GHR

Summary

GHR (growth hormone receptor, HGNC:4263) is a protein-coding gene on chromosome 5p13.1-p12, encoding Growth hormone receptor (P10912). Receptor for pituitary gland growth hormone (GH1) involved in regulating postnatal body growth.

This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.

Source: NCBI Gene 2690 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Laron syndrome (Definitive, GenCC) — +1 more curated relationship
• GWAS associations: 14
• Clinical variants (ClinVar): 637 total — 48 pathogenic, 10 likely-pathogenic
• Phenotypes (HPO): 46
• Druggable target: yes
• MANE Select transcript: NM_000163

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4263
Approved symbol	GHR
Name	growth hormone receptor
Location	5p13.1-p12
Locus type	gene with protein product
Status	Approved
Aliases	GHBP
Ensembl gene	ENSG00000112964
Ensembl biotype	protein_coding
OMIM	600946
Entrez	2690

Gene structure

Transcript identifiers

Ensembl transcripts: 34 — 30 protein_coding, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000230882, ENST00000357703, ENST00000505006, ENST00000511135, ENST00000513625, ENST00000513671, ENST00000537449, ENST00000612382, ENST00000612626, ENST00000615111, ENST00000618088, ENST00000620156, ENST00000622294, ENST00000887685, ENST00000887686, ENST00000887687, ENST00000887688, ENST00000887689, ENST00000887690, ENST00000887691, ENST00000887692, ENST00000887693, ENST00000887694, ENST00000887695, ENST00000887696, ENST00000887697, ENST00000887698, ENST00000887699, ENST00000887700, ENST00000887701, ENST00000887702, ENST00000887703, ENST00000887704, ENST00000887705

RefSeq mRNA: 11 — MANE Select: NM_000163 NM_000163, NM_001242399, NM_001242400, NM_001242401, NM_001242402, NM_001242403, NM_001242404, NM_001242405, NM_001242406, NM_001242460, NM_001242462

CCDS: CCDS3940, CCDS56364, CCDS75239, CCDS75240

Canonical transcript exons

ENST00000230882 — 10 exons

Exon	Start	End
ENSE00001149027	42688890	42689019
ENSE00001196895	42718453	42721878
ENSE00002053008	42423439	42423955
ENSE00003525394	42711207	42711372
ENSE00003585852	42718052	42718121
ENSE00003638001	42565864	42565944
ENSE00003646626	42713429	42713519
ENSE00003718484	42629038	42629103
ENSE00003729102	42699824	42700002
ENSE00003738883	42694917	42695089

Expression profiles

Bgee: expression breadth ubiquitous, 248 present calls, max score 96.53.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.3469 / max 461.4200, expressed in 977 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
56272	2.5242	868
56275	0.9916	258
56277	0.7970	160
56274	0.4559	192
56276	0.2664	86
56273	0.1422	68
56282	0.0916	8
56278	0.0403	22
56280	0.0298	6
56281	0.0079	4

Top tissues by expression

288 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	96.53	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	96.36	gold quality
biceps brachii	UBERON:0001507	96.05	gold quality
deltoid	UBERON:0001476	95.45	gold quality
vastus lateralis	UBERON:0001379	95.43	gold quality
liver	UBERON:0002107	95.32	gold quality
skeletal muscle tissue	UBERON:0001134	95.15	gold quality
quadriceps femoris	UBERON:0001377	94.92	gold quality
calcaneal tendon	UBERON:0003701	94.76	gold quality
tibialis anterior	UBERON:0001385	94.74	gold quality
gluteal muscle	UBERON:0002000	94.62	gold quality
triceps brachii	UBERON:0001509	94.39	gold quality
adipose tissue	UBERON:0001013	94.21	gold quality
right lobe of liver	UBERON:0001114	94.05	gold quality
connective tissue	UBERON:0002384	93.69	gold quality
diaphragm	UBERON:0001103	93.63	gold quality
renal glomerulus	UBERON:0000074	93.57	gold quality
subcutaneous adipose tissue	UBERON:0002190	93.42	gold quality
muscle organ	UBERON:0001630	93.41	gold quality
skeletal muscle organ	UBERON:0014892	93.41	gold quality
metanephric glomerulus	UBERON:0004736	93.19	gold quality
muscle tissue	UBERON:0002385	92.97	gold quality
muscle of leg	UBERON:0001383	92.76	gold quality
gastrocnemius	UBERON:0001388	92.65	gold quality
synovial joint	UBERON:0002217	92.63	gold quality
adipose tissue of abdominal region	UBERON:0007808	92.01	gold quality
thoracic mammary gland	UBERON:0005200	91.92	gold quality
mammary gland	UBERON:0001911	91.80	gold quality
skin of hip	UBERON:0001554	91.64	gold quality
omental fat pad	UBERON:0010414	91.59	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	14.47
E-CURD-112	no	371.22

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GFI1, GLI3, HIF1A, HNF4A, HNF4G, IRF6, NR2F2, POU1F1, SP1, SP3, SPI1, SSRP1, STAT5A, TP53, YBX1, ZNF148

miRNA regulators (miRDB)

100 targeting GHR, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690

Literature-anchored findings (GeneRIF, showing 40)

• structure of a phage display-derived variant of human growth hormone complexed to two copies of the extracellular domain of its receptor: evidence for strong structural coupling between receptor binding sites (PMID:11851338)
• plays an important role in the genetic and perhaps nutritional determination of adult stature in humans (PMID:11924928)
• Heterozygous T51I mutation of the growth hormone (GH) receptor does not inhibit the signal transduction of GH and is not responsible for GH insensitivity. (PMID:12423626)
• the presence of exon 3-retaining and -excluding GHR isoforms results from a genomic deletion rather than from alternative splicing (PMID:12611612)
• Of the 33 hypertrophic actinic keratosis specimens, 30 (91%) showed immunopositive staining for p53, 33 (100%) for bcl-2, and 12 (36%) for GHR. (PMID:12756585)
• self-inhibitory effect of growth hormone on the level of GHR/GHBP gene transcription, which does not involve the regulation of the shedding of GHBP (PMID:12846737)
• identification of members of the PTP family that have substrate specificity for the phosphorylated human GH receptor (PMID:12907755)
• Detection of the binding-site hot spot at the remodeled human growth hormone-receptor interface complexed with growth hormone. (PMID:14517972)
• the JAK-STAT5 pathway and the novel tyrosine phosphorylation pathway, dependent on signaling from the C-terminal region of hGHR and might be involved in the GH-stimulated IGF-I gene expression in Ba/F3 cells. (PMID:14551225)
• Growth hormone binding to its receptor plays a role in the final stages of oocyte maturation and early embryogenesis (PMID:15085728)
• role of human growth hormone (GH) and its receptor (GHR) in human prostate cancer (PMID:15196705)
• Using a mutagenesis-scanning analysis of 81 single and 32 pairwise double mutations, it is shown that the GHv hormone’s two spatially distal receptor binding sites (Site1 and Site2) are allosterically coupled (PMID:15563602)
• preliminary X-ray diffraction analysis of the unliganded human growth hormone receptor (PMID:15583394)
• GHR is subject to sequential proteolysis by metalloprotease and gamma-secretases, including PS1 (PMID:15743767)
• We report a Chinese girl diagnosed with Laron syndrome at age 1.9 years with height -4.9 SDS, basal GH 344 mIU/ml, IGF-I <12 ng/ml, IGFBP-3 <0.2 mg/ml, and undetectable GHBP. A novel mutation of the GHR was identified at the donor splice site of intron 6. (PMID:15751611)
• Results describe the intramolecular cooperativity in the high affinity site (site 1) of human growth hormone (hGH) for binding to its receptor. (PMID:15755445)
• stability of the ternary hormone-receptor complex reflects the affinity of the Site2 binding and is surprisingly exempt from changes in Site1 affinity, directly demonstrating that dissociation of the active signaling complex is a stepwise process (PMID:15857837)
• Epression was demonstrated in all normal pituitaries, most inactive adenomas and the majority of somatotropin-producing adenomas. (PMID:15891957)
• activation mechanism involving a relative rotation of subunits within a dimeric growth hormone receptor as a result of asymmetric placement of the receptor-binding sites on the ligand (PMID:16116438)
• Heterozygous mutations of the growth hormone receptor gene are uncommon in Italian idiopathic short stature patients, who are selected for adequate GH levels (PMID:16213173)
• Patients with growth hormone deficiency who are homozygous for GHR exon 3 are less responsive to short- and long-term hGH therapy. (PMID:16291702)
• CJC-1295, a long-acting analog of GH-releasing hormone may be uxeful in increasing GH and IGF-I levels. (PMID:16352683)
• Findings show that IQ and abnormalities in the brain of patients with LS differ with various molecular defects of the GH-receptor. The most severe mental deficits and brain pathology occurred in patients with 3, 5, 6 exon deletion. (PMID:16372230)
• The most common GHR polymorphisms do not appear to affect the growth response to recombinanat human growth hormone in growth hormone deficient children. (PMID:16394090)
• No association is found between growth hormone receptor genotype and either hypertension or stroke. (PMID:16572267)
• Sequence changes of the GHR are common in children with idiopathic short stature (ISS), but these sequence changes represent a simple polymorphism of the GHR. They do not seem to play a contributory role in the etiology of short stature. (PMID:16582564)
• The increase in nuclear expression of GHR with advanced stages of chronic liver disease suggests that GH may act directly at the nuclear level to promote hepatocyte proliferation/regeneration. (PMID:16722931)
• GH signaling pathways: STAT5 is acutely activated in human muscle and fat after a GH bolus, but additional downstream GH signaling was significant only in fat (PMID:16757551)
• Growth hormone receptor (GHR) signaling events require the involvement of the common cytokine receptor gamma-chain. Colocalization of GHR and common gamma-chain is observed on the surface of normal lymphoblastoid cells. (PMID:17082603)
• The hGHR 3+ and 3- isoforms appear not to have differential effects on two major growth outcomes of growth hormone action, final adult height, and bone mineral density in a population of healthy adult women (PMID:17090634)
• Activation of the pseudoexon in the GHR gene can lead to a variety of growth hormone insensitivity phenotypes (PMID:17148568)
• Several mutations of GHR gene were detected in short-statured patients with non-growth-hormone deficiency. (PMID:17274879)
• increased risk of breast cancer with higher GHBP (PMID:17287408)
• pegvisomant blocks the GH receptor-mediated signal transduction pathways (PMID:17289896)
• results suggest that the GHR allelic variant does not play a significant role in the regulation of GH-IGF-I/BP3 axis or in insulin sensitivity in prepubertal LBW children. (PMID:17347571)
• GH-dependent IGF-I and IGFBP-3 secretion is not affected by heterozygosity for the E180 splice mutation that causes GHRD/Laron syndrome in the Ecuadorian population. (PMID:17350302)
• each of the compound heterozygous mutations of GHR gene contributed additively to the pathological condition, and the more detrimental of the 2 mutations, C94S, may cause (partial) primary growth hormone insensitivity, even in a heterozygous state (PMID:17405847)
• increased spontaneous postnatal growth velocity in the carriers of the d3-GHR allele, but the opposite effect on prenatal growth in the small for gestational age group (PMID:17426087)
• Case of a patient with mild short stature, who acquired GHD in late adulthood due to a non-secreting pituitary adenoma and get additionally diagnosed for pre-existing growth hormone insensitivity due to R179C mutation. (PMID:17462934)
• The growth hormone receptor did not appear to be a predisposing gene or disease modifier gene of adolescent idiopathic scoliosis. (PMID:17514010)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	ghrb	ENSDARG00000007671
danio_rerio	il11ra	ENSDARG00000026736
danio_rerio	ghra	ENSDARG00000054771
danio_rerio	il6r	ENSDARG00000104474
mus_musculus	Ghr	ENSMUSG00000055737
rattus_norvegicus	Ghr	ENSRNOG00000015654

Paralogs (23): CRLF1 (ENSG00000006016), IL12RB2 (ENSG00000081985), IL5RA (ENSG00000091181), IL12RB1 (ENSG00000096996), IL27RA (ENSG00000104998), EBI3 (ENSG00000105246), PRLR (ENSG00000113494), LIFR (ENSG00000113594), LEPR (ENSG00000116678), CSF3R (ENSG00000119535), CNTFR (ENSG00000122756), IL13RA2 (ENSG00000123496), IL13RA1 (ENSG00000131724), IL6ST (ENSG00000134352), IL11RA (ENSG00000137070), OSMR (ENSG00000145623), IL2RG (ENSG00000147168), IL6R (ENSG00000160712), IL23R (ENSG00000162594), IL31RA (ENSG00000164509), IL3RA (ENSG00000185291), CSF2RA (ENSG00000198223), CRLF2 (ENSG00000205755)

Protein

Protein identifiers

Growth hormone receptor — P10912 (reviewed: P10912)

Alternative names: Somatotropin receptor

All UniProt accessions (5): A0A087X0H5, A0A087X162, E7ES05, E9PCN7, P10912

UniProt curated annotations — full annotation on UniProt →

Function. Receptor for pituitary gland growth hormone (GH1) involved in regulating postnatal body growth. On ligand binding, couples to the JAK2/STAT5 pathway. The soluble form (GHBP) acts as a reservoir of growth hormone in plasma and may be a modulator/inhibitor of GH signaling. Up-regulates the production of the soluble Growth hormone-binding protein form (GHBP) and acts as a negative inhibitor of growth hormone signaling.

Subunit / interactions. On growth hormone (GH) binding, forms homodimers and binds JAK2 via a box 1-containing domain.

Subcellular location. Cell membrane Cell membrane Secreted.

Tissue specificity. Expressed in various tissues with high expression in liver and skeletal muscle. Isoform 2 is expressed in lung, stomach and muscle. Predominantly expressed in kidney, bladder, adrenal gland and brain stem. Highly expressed in placental villi.

Post-translational modifications. The soluble form (GHBP) is produced by phorbol ester-promoted proteolytic cleavage at the cell surface (shedding) by ADAM17/TACE. Shedding is inhibited by growth hormone (GH) binding to the receptor probably due to a conformational change in GHR rendering the receptor inaccessible to ADAM17. On GH binding, phosphorylated on tyrosine residues in the cytoplasmic domain by JAK2. Ubiquitinated by the ECS(SOCS2) complex following ligand-binding and phosphorylation by JAK2, leading to its degradation by the proteasome. Regulation by the ECS(SOCS2) complex acts as a negative feedback loop of growth hormone receptor signaling. Ubiquitination is not sufficient for GHR internalization.

Disease relevance. Laron syndrome (LARS) [MIM:262500] A severe form of growth hormone insensitivity characterized by growth impairment, short stature, dysfunctional growth hormone receptor, and failure to generate insulin-like growth factor I in response to growth hormone. The disease is caused by variants affecting the gene represented in this entry. Growth hormone insensitivity, partial (GHIP) [MIM:604271] A disease characterized by partial resistance to growth hormone resulting in short stature. Short stature is defined by a standing height more than 2 standard deviations below the mean (or below the 2.5 percentile) for sex and chronological age, compared with a well-nourished, healthy, genetically relevant population. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding. The box 1 motif is required for JAK interaction and/or activation. The extracellular domain is the ligand-binding domain representing the growth hormone-binding protein (GHBP). The ubiquitination-dependent endocytosis motif (UbE) is required for recruitment of the ubiquitin conjugation system on to the receptor and for its internalization.

Polymorphism. Genetic variation in GHR may act as phenotype modifier in familial hypercholesterolemia [MIM:143890] patients carrying a mutation in the LDLR gene.

Miscellaneous. Arises by species-specific retrovirus-mediated alternative splice mimicry.

Similarity. Belongs to the type I cytokine receptor family. Type 1 subfamily.

Isoforms (4)

UniProt ID	Names	Canonical?
P10912-1	1, GHRfl	yes
P10912-2	2, GHRtr, GHR1-279
P10912-3	3, GHR1-277
P10912-4	4, GHRd3

RefSeq proteins (11): NP_000154, NP_001229328, NP_001229329, NP_001229330, NP_001229331, NP_001229332, NP_001229333, NP_001229334, NP_001229335, NP_001229389, NP_001229391 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003528	Long_hematopoietin_rcpt_CS	Conserved_site
IPR003961	FN3_dom	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR015152	Growth/epo_recpt_lig-bind	Domain
IPR025871	GHBP	Domain
IPR036116	FN3_sf	Homologous_superfamily

Pfam: PF00041, PF09067, PF12772

UniProt features (84 total): sequence variant 28, strand 13, splice variant 6, glycosylation site 5, mutagenesis site 5, helix 4, short sequence motif 3, modified residue 3, disulfide bond 3, turn 3, region of interest 3, chain 2, topological domain 2, signal peptide 1, compositionally biased region 1, transmembrane region 1, domain 1

Structure

Experimental structures (PDB)

11 structures.

PDB	Method	Resolution (Å)
6I5N	X-RAY DIFFRACTION	1.98
1AXI	X-RAY DIFFRACTION	2.1
1HWG	X-RAY DIFFRACTION	2.5
1A22	X-RAY DIFFRACTION	2.6
1KF9	X-RAY DIFFRACTION	2.6
2AEW	X-RAY DIFFRACTION	2.7
3HHR	X-RAY DIFFRACTION	2.8
6I5J	X-RAY DIFFRACTION	2.8
1HWH	X-RAY DIFFRACTION	2.9
5OEK	SOLUTION NMR
5OHD	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P10912-F1	59.70	0.28

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (3): 341, 487, 595

Disulfide bonds (3): 56–66, 101–112, 126–140

Glycosylation sites (5): 46, 115, 156, 161, 200

Mutagenesis-validated functional residues (5):

Position	Phenotype
260	no change in shedding activity: no change in hormone binding.
261	no change in shedding activity: no change in hormone binding.
262	no change in shedding activity: no change in hormone binding.
487	increased growth hormone receptor signaling pathway due to decreased ubiquitination by the ecs(socs2) complex; when asso
595	increased growth hormone receptor signaling pathway due to decreased ubiquitination by the ecs(socs2) complex; when asso

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-1170546	Prolactin receptor signaling
R-HSA-982772	Growth hormone receptor signaling

MSigDB gene sets: 438 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, AHRARNT_01, RRAGTTGT_UNKNOWN, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, TAATAAT_MIR126, BENPORATH_ES_WITH_H3K27ME3, FARMER_BREAST_CANCER_CLUSTER_7, GOBP_RESPONSE_TO_ESTRADIOL, GOBP_CARTILAGE_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GGGNRMNNYCAT_UNKNOWN, GOBP_RESPONSE_TO_PEPTIDE

GO Biological Process (32): endocytosis (GO:0006897), cell surface receptor signaling pathway via JAK-STAT (GO:0007259), positive regulation of cell population proliferation (GO:0008284), response to gravity (GO:0009629), hormone-mediated signaling pathway (GO:0009755), cytokine-mediated signaling pathway (GO:0019221), taurine metabolic process (GO:0019530), receptor internalization (GO:0031623), response to food (GO:0032094), regulation of response to nutrient levels (GO:0032107), response to estradiol (GO:0032355), cellular response to insulin stimulus (GO:0032869), cellular response to hormone stimulus (GO:0032870), regulation of multicellular organism growth (GO:0040014), positive regulation of multicellular organism growth (GO:0040018), hormone metabolic process (GO:0042445), positive regulation of MAPK cascade (GO:0043410), positive regulation of cell differentiation (GO:0045597), positive regulation of receptor signaling pathway via JAK-STAT (GO:0046427), response to cycloheximide (GO:0046898), insulin-like growth factor receptor signaling pathway (GO:0048009), response to glucocorticoid (GO:0051384), cartilage development involved in endochondral bone morphogenesis (GO:0060351), growth hormone receptor signaling pathway (GO:0060396), response to interleukin-1 (GO:0070555), response to hormone (GO:0009725), response to cytokine (GO:0034097), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), response to peptide hormone (GO:0043434), growth hormone receptor signaling pathway via JAK-STAT (GO:0060397), negative regulation of growth hormone receptor signaling pathway (GO:0060400), response to growth hormone (GO:0060416)

GO Molecular Function (15): growth hormone receptor activity (GO:0004903), lipid binding (GO:0008289), peptide hormone binding (GO:0017046), growth factor binding (GO:0019838), protein phosphatase binding (GO:0019903), cytokine binding (GO:0019955), protein tyrosine kinase activator activity (GO:0030296), SH2 domain binding (GO:0042169), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), proline-rich region binding (GO:0070064), protein tyrosine kinase binding (GO:1990782), cytokine receptor activity (GO:0004896), protein binding (GO:0005515), protein kinase binding (GO:0019901)

GO Cellular Component (11): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), cytosol (GO:0005829), plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), cell surface (GO:0009986), membrane (GO:0016020), cytoplasmic ribonucleoprotein granule (GO:0036464), neuronal cell body (GO:0043025), signaling receptor complex (GO:0043235), growth hormone receptor complex (GO:0070195)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Cytokine Signaling in Immune system	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein binding	4
cellular anatomical structure	4
positive regulation of cellular process	2
response to nutrient levels	2
multicellular organism growth	2
binding	2
cytoplasm	2
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
cell surface receptor signaling pathway via STAT	1
cell population proliferation	1
regulation of cell population proliferation	1
response to abiotic stimulus	1
signal transduction	1
cellular response to hormone stimulus	1
cell surface receptor signaling pathway	1
cellular response to cytokine stimulus	1
alkanesulfonate metabolic process	1
receptor-mediated endocytosis	1
response to chemical	1
regulation of response to stimulus	1
response to lipid	1
response to oxygen-containing compound	1
response to insulin	1
cellular response to peptide hormone stimulus	1
response to hormone	1
cellular response to chemical stimulus	1
cellular response to endogenous stimulus	1
regulation of developmental growth	1
regulation of multicellular organismal process	1
regulation of multicellular organism growth	1
positive regulation of developmental growth	1
positive regulation of multicellular organismal process	1
metabolic process	1
regulation of hormone levels	1
MAPK cascade	1
regulation of MAPK cascade	1
positive regulation of intracellular signal transduction	1

Protein interactions and networks

STRING

1380 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GHR	GH1	P01241	985
GHR	JAK2	O60674	985
GHR	SOCS2	O14508	953
GHR	IGF1	P01343	947
GHR	CSH1	P01243	928
GHR	A6NFB4	A6NFB4	923
GHR	CSH1	P01243	922
GHR	PRL	P01236	920
GHR	STAT5B	P51692	897
GHR	IGFBP3	P17936	897
GHR	GHRHR	Q02643	843
GHR	GHRH	P01286	840
GHR	IGF1R	P08069	798
GHR	STAT5A	P42229	769
GHR	PROP1	O75360	756

IntAct

56 interactions, top by confidence:

A	B	Type	Score
GHR	GH1	psi-mi:“MI:0407”(direct interaction)	0.730
GH1	GHR	psi-mi:“MI:0407”(direct interaction)	0.730
PTPRB	GHR	psi-mi:“MI:0407”(direct interaction)	0.680
PTPRB	GHR	psi-mi:“MI:0203”(dephosphorylation reaction)	0.680
PTPN2	GHR	psi-mi:“MI:0407”(direct interaction)	0.650
PTPN1	GHR	psi-mi:“MI:0407”(direct interaction)	0.650
PTPRH	GHR	psi-mi:“MI:0407”(direct interaction)	0.650
PTPN3	GHR	psi-mi:“MI:0407”(direct interaction)	0.650
PTPN2	GHR	psi-mi:“MI:0203”(dephosphorylation reaction)	0.650
PTPN1	GHR	psi-mi:“MI:0203”(dephosphorylation reaction)	0.650
PTPRH	GHR	psi-mi:“MI:0203”(dephosphorylation reaction)	0.650
PTPN3	GHR	psi-mi:“MI:0203”(dephosphorylation reaction)	0.650
PTPN2	GHR	psi-mi:“MI:0915”(physical association)	0.650
PTPN3	GHR	psi-mi:“MI:0915”(physical association)	0.650
PTPN1	GHR	psi-mi:“MI:0915”(physical association)	0.650
PTPRH	GHR	psi-mi:“MI:0915”(physical association)	0.650
PTPN9	GHR	psi-mi:“MI:0407”(direct interaction)	0.560
DUSP7	GHR	psi-mi:“MI:0407”(direct interaction)	0.560
DUSP7	GHR	psi-mi:“MI:0203”(dephosphorylation reaction)	0.560

BioGRID (75): GHR (Reconstituted Complex), GHR (Biochemical Activity), GHR (Co-localization), GHR (Co-localization), GHR (Co-localization), GHR (Protein-peptide), GHR (Protein-peptide), GHR (Protein-peptide), GHR (Protein-peptide), GHR (Protein-peptide), GHR (Protein-peptide), GHR (Protein-peptide), GHR (Protein-peptide), GHR (Protein-peptide), GHR (Protein-peptide)

ESM2 similar proteins: A0MSX9, A5HJM1, D5K8A9, K9JA28, O46561, O46600, O70458, P05710, P10912, P14787, P15260, P16310, P16471, P16871, P16872, P16882, P19756, P19941, P26954, P26955, P40190, P79108, P79194, Q00560, Q02092, Q08501, Q28172, Q28235, Q28575, Q38IC7, Q4W815, Q5VWK5, Q6JTA8, Q6PHB0, Q7Z6A9, Q8C4Q9, Q8K4B4, Q8NDB2, Q8NI17, Q90375

Diamond homologs: O46561, O46600, O75462, P05710, P10912, P14787, P16310, P16471, P16882, P19756, P19941, P79108, P79194, Q02092, Q04594, Q08501, Q28172, Q28235, Q28575, Q6JTA8, Q90374, Q90375, Q91094, Q91513, Q95JF2, Q95ML5, Q9JI97, Q9JM58, Q9XSZ1, Q9TU69, O02671, P40189, P78552

SIGNOR signaling

21 interactions.

A	Effect	B	Mechanism
DUSP7	down-regulates	GHR	dephosphorylation
PTPN9	down-regulates	GHR	dephosphorylation
PTPRB	down-regulates	GHR	dephosphorylation
GH1	“up-regulates activity”	GHR	binding
GHR	“up-regulates activity”	MAP2K5	phosphorylation
GHR	up-regulates	NFATC2
JAK2	“up-regulates activity”	GHR	phosphorylation
EPHA4	“up-regulates activity”	GHR	phosphorylation
GH1	up-regulates	GHR	binding
PTPN2	“down-regulates activity”	GHR	dephosphorylation
PTPN1	“down-regulates activity”	GHR	dephosphorylation
PTPN3	“down-regulates activity”	GHR	dephosphorylation
PTPN9	“down-regulates activity”	GHR	dephosphorylation
DUSP7	“down-regulates activity”	GHR	dephosphorylation
PTPRH	“down-regulates activity”	GHR	dephosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 22 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Downstream signal transduction	7	133.2×	8e-12
Signaling by FGFR1 in disease	5	73.2×	7e-07

GO biological processes:

GO term	Partners	Fold	FDR
peptidyl-tyrosine dephosphorylation	6	253.4×	2e-11
protein dephosphorylation	6	63.4×	5e-08
B cell differentiation	6	62.5×	5e-08
cytokine-mediated signaling pathway	5	31.1×	1e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

637 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	48
Likely pathogenic	10
Uncertain significance	273
Likely benign	194
Benign	46

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1206352	NM_000163.5(GHR):c.192_193del (p.Ser65fs)	Pathogenic
1393273	NM_000163.5(GHR):c.757del (p.Gln253fs)	Pathogenic
1804177	NM_000163.5(GHR):c.267-1155_333del	Pathogenic
2446354	NM_000163.5(GHR):c.70+1G>T	Pathogenic
254180	NM_000163.5(GHR):c.559T>C (p.Trp187Arg)	Pathogenic
2704686	NM_000163.5(GHR):c.337del (p.Tyr113fs)	Pathogenic
2734724	NM_000163.5(GHR):c.1A>G (p.Met1Val)	Pathogenic
2734725	NM_000163.5(GHR):c.11G>A (p.Trp4Ter)	Pathogenic
2734726	NM_000163.5(GHR):c.335G>T (p.Cys112Phe)	Pathogenic
2734728	NM_000163.5(GHR):c.744del (p.Leu247_Tyr248insTer)	Pathogenic
2807422	NM_000163.5(GHR):c.697A>T (p.Lys233Ter)	Pathogenic
2824242	NM_000163.5(GHR):c.203G>A (p.Trp68Ter)	Pathogenic
2855536	NM_000163.5(GHR):c.438del (p.Ile146fs)	Pathogenic
3006173	NM_000163.5(GHR):c.561G>A (p.Trp187Ter)	Pathogenic
3012514	NM_000163.5(GHR):c.1687G>T (p.Glu563Ter)	Pathogenic
3246438	NC_000005.9:g.(?42565977)(42719526_?)del	Pathogenic
3246439	NC_000005.9:g.(?42565977)(42566066_?)del	Pathogenic
3246441	NC_000005.9:g.(?42694999)(42700896_?)del	Pathogenic
3246443	NC_000005.9:g.(?42695125)(42722744_?)del	Pathogenic
3609138	NM_000163.5(GHR):c.800G>A (p.Trp267Ter)	Pathogenic
397577	NM_000163.5(GHR):c.281G>A (p.Trp94Ter)	Pathogenic
4077372	NM_000163.5(GHR):c.784G>C (p.Asp262His)	Pathogenic
4708877	NM_000163.5(GHR):c.372_378del (p.Tyr125fs)	Pathogenic
4718366	NM_000163.5(GHR):c.1564_1565dup (p.Leu523fs)	Pathogenic
4722702	NM_000163.5(GHR):c.1369C>T (p.Gln457Ter)	Pathogenic
4730714	NM_000163.5(GHR):c.1641_1645del (p.Pro548fs)	Pathogenic
4805496	NM_000163.5(GHR):c.3G>A (p.Met1Ile)	Pathogenic
492774	NM_000163.5(GHR):c.945G>A (p.Lys315=)	Pathogenic
8631	GHR, EX4,6DEL	Pathogenic
8632	NM_000163.5(GHR):c.341T>C (p.Phe114Ser)	Pathogenic

SpliceAI

3265 predictions. Top by Δscore:

Variant	Effect	Δscore
5:42423953:G:GT	donor_gain	1.0000
5:42565936:G:GT	donor_gain	1.0000
5:42565941:GAGG:G	donor_gain	1.0000
5:42565943:GG:G	donor_gain	1.0000
5:42565944:GG:G	donor_gain	1.0000
5:42629030:T:TA	acceptor_gain	1.0000
5:42629034:TCAGC:T	acceptor_loss	1.0000
5:42629035:CA:C	acceptor_loss	1.0000
5:42629036:A:AG	acceptor_gain	1.0000
5:42629037:G:C	acceptor_loss	1.0000
5:42629037:G:GA	acceptor_gain	1.0000
5:42629037:GCC:G	acceptor_gain	1.0000
5:42629037:GCCAC:G	acceptor_gain	1.0000
5:42629099:GACAA:G	donor_gain	1.0000
5:42629102:AAG:A	donor_loss	1.0000
5:42629103:AGT:A	donor_loss	1.0000
5:42629104:G:GG	donor_gain	1.0000
5:42629105:T:A	donor_loss	1.0000
5:42695050:G:GA	donor_gain	1.0000
5:42699821:C:G	acceptor_gain	1.0000
5:42699822:A:AG	acceptor_gain	1.0000
5:42699823:G:GG	acceptor_gain	1.0000
5:42699823:GT:G	acceptor_gain	1.0000
5:42700000:ATGGT:A	donor_loss	1.0000
5:42700003:G:GA	donor_loss	1.0000
5:42700004:T:G	donor_loss	1.0000
5:42423951:CGGAG:C	donor_loss	0.9900
5:42423953:GAGGT:G	donor_loss	0.9900
5:42423954:AGGT:A	donor_loss	0.9900
5:42423955:GGTAC:G	donor_loss	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000004818 (5:42690514 A>G), RS1000018259 (5:42562488 T>C), RS1000019604 (5:42433564 A>G), RS1000022285 (5:42519891 G>A), RS1000025459 (5:42661397 G>C), RS1000026399 (5:42618242 T>G), RS1000033252 (5:42426890 G>A), RS1000033960 (5:42602153 C>A), RS1000036609 (5:42700381 G>T), RS1000037458 (5:42515851 T>A), RS1000037760 (5:42527158 G>A), RS1000046926 (5:42567878 T>A), RS1000060426 (5:42546836 A>G), RS1000067071 (5:42706421 T>C), RS1000085842 (5:42568177 T>C)

Disease associations

OMIM: gene MIM:600946 | disease phenotypes: MIM:262500, MIM:604271, MIM:143890, MIM:615925

GenCC curated gene-disease

Disease	Classification	Inheritance
Laron syndrome	Definitive	Autosomal recessive
short stature due to partial GHR deficiency	Strong	Autosomal dominant

Mondo (6): Laron syndrome (MONDO:0009877), growth hormone insensitivity syndrome (MONDO:0015892), short stature due to partial GHR deficiency (MONDO:0011420), hypercholesterolemia, familial, 1 (MONDO:0007750), specific learning disability (MONDO:0016225), short stature due to GHSR deficiency (MONDO:0014403)

Orphanet (6): Growth hormone insensitivity syndrome (Orphanet:181393), Laron syndrome (Orphanet:633), Short stature due to partial GHR deficiency (Orphanet:314802), Short stature due to GHSR deficiency (Orphanet:314811), Homozygous familial hypercholesterolemia (Orphanet:391665), Specific learning disability (Orphanet:211047)

HPO phenotypes

46 total (30 of 46 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000274	Small face
HP:0000347	Micrognathia
HP:0000348	High forehead
HP:0000457	Depressed nasal ridge
HP:0000592	Blue sclerae
HP:0000684	Delayed eruption of teeth
HP:0000691	Microdontia
HP:0000818	Abnormality of the endocrine system
HP:0000823	Delayed puberty
HP:0000929	Abnormal skull morphology
HP:0000966	Hypohidrosis
HP:0001084	Corneal arcus
HP:0001114	Xanthelasma
HP:0001156	Brachydactyly
HP:0001249	Intellectual disability
HP:0001270	Motor delay
HP:0001367	Abnormal joint morphology
HP:0001510	Growth delay
HP:0001620	Abnormally high-pitched voice
HP:0001677	Coronary artery atherosclerosis
HP:0001831	Short toe
HP:0001943	Hypoglycemia
HP:0001956	Truncal obesity
HP:0001999	Abnormal facial shape
HP:0002750	Delayed skeletal maturation
HP:0002758	Osteoarthritis
HP:0003026	Short long bone
HP:0003124	Hypercholesterolemia

GWAS associations

14 associations (top):

Study	Trait	p-value
GCST000144_2	Systemic lupus erythematosus	4.000000e-06
GCST000301_11	Iron status biomarkers	8.000000e-06
GCST001692_4	Response to taxane treatment (docetaxel)	3.000000e-06
GCST002541_12	Menarche (age at onset)	4.000000e-09
GCST002702_95	Height	8.000000e-06
GCST006043_3	Plasma renin activity levels	6.000000e-06
GCST006088_66	Familial squamous cell lung carcinoma	9.000000e-06
GCST006585_1085	Blood protein levels	1.000000e-13
GCST006979_768	Heel bone mineral density	4.000000e-28
GCST008163_555	Height	4.000000e-08
GCST008839_144	Height	2.000000e-24
GCST012227_1345	Hip circumference adjusted for BMI	2.000000e-10
GCST90000025_30	Appendicular lean mass	3.000000e-18
GCST90000025_31	Appendicular lean mass	8.000000e-40

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004461	iron biomarker measurement
EFO:0004703	age at menarche
EFO:0006828	plasma renin activity measurement
EFO:0006953	family history of lung cancer
EFO:0009270	heel bone mineral density
EFO:0008039	BMI-adjusted hip circumference
EFO:0004980	appendicular lean mass

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D046150	Laron Syndrome	C05.116.099.343.679; C16.320.240.750; C19.297.656
D000067559	Specific Learning Disorder	C10.597.606.150.550.700; C23.888.592.604.150.550.700; F03.625.374.188.700; F03.625.562.700
C565805	Short Stature, Idiopathic, Autosomal (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL1976 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: catalytic receptor — Prolactin receptor family

Most potent curated ligand interactions (2 total), top 2:

Ligand	Action	Affinity	Parameter
growth hormone 1	Agonist	9.04	pKd
somatrogon	Agonist	8.2	pKd

CTD chemical–gene interactions

52 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases expression, decreases methylation	5
Tetrachlorodibenzodioxin	affects cotreatment, increases expression, affects expression, decreases expression, decreases reaction	4
Aflatoxin B1	affects expression, decreases expression, decreases methylation, increases methylation	4
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	3
sodium arsenite	decreases expression, affects methylation	2
Acetaminophen	decreases expression	2
Estradiol	affects cotreatment, increases expression, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Silicon Dioxide	decreases expression	2
Cyclosporine	decreases expression	2
sotorasib	affects cotreatment, increases expression	1
methylmercuric chloride	decreases expression	1
methyleugenol	decreases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	decreases methylation	1
salinomycin	decreases expression	1
trichostatin A	increases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
fipronil	affects cotreatment, decreases expression	1
CGP 52608	affects binding, increases reaction	1
T0901317	affects cotreatment, decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, increases expression	1
trametinib	affects cotreatment, increases expression	1
NVP-BKM120	affects cotreatment, increases expression	1
Bortezomib	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Chelating Agents	affects binding, decreases expression	1
Copper	affects binding, decreases expression	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5650400	Binding	Inhibition of growth hormone receptor (unknown origin) at 0.3 uM incubated for 6 hrs by ingenuity upstream regulator analysis	Discovery of a selective catalytic p300/CBP inhibitor that targets lineage-specific tumours. — Nature

Cellosaurus cell lines

6 cell lines: 3 cancer cell line, 2 transformed cell line, 1 factor-dependent cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D1WI	Abcam A-549 GHR KO	Cancer cell line	Male
CVCL_D2AX	Abcam HCT 116 GHR KO	Cancer cell line	Male
CVCL_D2NG	Abcam THP-1 GHR KO	Cancer cell line	Male
CVCL_D9FH	Ubigene HEK293 GHR KO	Transformed cell line	Female
CVCL_HQ14	GM21902	Transformed cell line	Female
CVCL_K247	Ba/F3-hGHR	Factor-dependent cell line

Clinical trials (associated diseases)

51 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT06231459	PHASE4	COMPLETED	Expression of Pro- and Anti-inflammatory Cytokines During Anti-PCSK9 in Familial Hypercholesterolemia
NCT00000594	PHASE3	COMPLETED	NHLBI Type II Coronary Intervention Study
NCT00092833	PHASE3	TERMINATED	Investigational Drug in Patients With Hypercholesterolemia or in Patients With Sitosterolemia (0653-026)(COMPLETED)
NCT00134485	PHASE3	COMPLETED	Study To Evaluate The Safety And Efficacy Of Torcetrapib/Atorvastatin In Subjects With Familial Hypercholerolemia
NCT00134511	PHASE3	COMPLETED	Study To Evaluate The Effect Of Torcetrapib/Atorvastatin In Patients With Genetic High Cholesterol Disorder
NCT00136981	PHASE3	COMPLETED	Carotid B-Mode Ultrasound Study to Compare Anti-Atherosclerotic Effect of Torcetrpib/Atorvastatin to Atorvastatin Alone.
NCT00384293	PHASE3	TERMINATED	Carotid IMT (Intima Media Thickening) Study (0524A-041)(TERMINATED)
NCT01524289	PHASE3	COMPLETED	Study to Assess the Tolerability and Efficacy of Anacetrapib (MK-0859) Co-Administered With Statin in Participants With Heterozygous Familial Hypercholesterolemia (MK-0859-020)
NCT00280995	PHASE2	COMPLETED	Dose-escalating Safety Study of ISIS 301012 in Homozygous Familial Hypercholesterolemia Subjects on Lipid Lowering Therapy
NCT00281008	PHASE2	COMPLETED	Study of ISIS 301012 (Mipomersen) in Heterozygous Familial Hypercholesterolemia Subjects on Lipid Lowering Therapy
NCT01375751	PHASE2	COMPLETED	Reduction of Low-Density Lipoprotein Cholesterol (LDL-C) With PCSK9 Inhibition in Heterozygous Familial Hypercholesterolemia Disorder Study
NCT00515307	PHASE1	COMPLETED	Bone Marrow Stem Cells as a Source of Allogenic Hepatocyte Transplantation in Homozygous Familial Hypercholesterolemia
NCT01583647	PHASE1	TERMINATED	A Study of Extended-release (ER) Niacin/Laropiprant in Adolescents With Heterozygous Familial Hypercholesterolemia (MK-0524A-158)
NCT00368173	PHASE2/PHASE3	COMPLETED	IGF-I/IGFBP-3 Therapy in Children and Adolescents With Growth Hormone Insenitivity Syndrome (GHIS) Such as Laron Syndrome
NCT00571727	PHASE2/PHASE3	COMPLETED	Long-Term Treatment With rhIGF-1 in GHIS
NCT00005168	Not specified	COMPLETED	Hyperapo B and Coronary Heart Disease
NCT01753232	Not specified	COMPLETED	Safety and Efficacy of the DALI LDL-adsorber and MONET Lipoprotein Filter
NCT03018678	Not specified	COMPLETED	Screening Protocol for a Gene Therapy Trial in Subjects With Homozygous Familial Hypercholesterolemia
NCT03110432	Not specified	COMPLETED	Prospective German Very High Cardiovascular Risk Patients Dyslipidemia Treatment Indication Registry
NCT03795038	Not specified	COMPLETED	Comparison of the Plasma Lipoprotein Apheresis Systems DIAMED and MONET vs. the Whole Blood Apheresis System DALI
NCT03989167	Not specified	RECRUITING	Clinical Decision Support for Familial Hypercholesterolemia
NCT04073797	Not specified	RECRUITING	PET Imaging of Inflammation and Lipid Lowering Study
NCT04118348	Not specified	COMPLETED	Evaluating the Efficacy of Pediatric Lipid Screening Alerts
NCT04313270	Not specified	UNKNOWN	Subclinical Atherosclerosis in Patients With Familial Hypercholesterolemia Treated With Evolocumab®
NCT04526457	Not specified	COMPLETED	Is Family Screening Improved by Genetic Testing of Familial Hypercholesterolemia
NCT04656028	Not specified	ACTIVE_NOT_RECRUITING	Genetic Testing and Motivational Counseling for FH
NCT04722068	Not specified	COMPLETED	Regeneron 1331 Kinetics Sub-Study HoFH
NCT04837638	Not specified	UNKNOWN	Diet Quality and Coronary Artery Calcification in Adults With Heterozygous Familial Hypercholesterolemia
NCT06555120	Not specified	RECRUITING	Screening for Familial Hypercholesterolemia in Children
NCT07543731	Not specified	NOT_YET_RECRUITING	A Real-World Study of Long-Term Adherence and Persistence to Inclisiran, Evolocumab, and Alirocumab
NCT03261076	Not specified	UNKNOWN	Reading Remediation and Outcomes in Detention
NCT04122820	Not specified	UNKNOWN	Ambulatory Screening for Specific Learning Disabilities (SLD) and Developmental Coordination Disorder (DCD).
NCT04783987	Not specified	UNKNOWN	Single and Dual Task Gait Parameters in Children With Specific Learning Difficulties
NCT05319197	Not specified	COMPLETED	HAND FUNCTIONS OF CHILDREN WITH A SPECIFIC LEARNING DISORDER
NCT05780853	Not specified	RECRUITING	A Game-based Neurodevelopmental Assessment for Young Children
NCT05787483	Not specified	COMPLETED	Biopsychosocial Outcomes of Mindfulness-based Instruction
NCT05872737	Not specified	RECRUITING	FAB Programme for Parents of Children With NDD
NCT05902143	Not specified	UNKNOWN	Fine Motor Function in Children With Specific Learning Disorders
NCT05923645	Not specified	UNKNOWN	Efficacy of rTMS as an Adjunct to AI Enabled Remedial Intervention in Children With Dyslexia
NCT05998083	Not specified	COMPLETED	The Effectiveness of Purposeful Exercises in Children Diagnosed With Special Learning Disabilities