CBLL2

Summary

CBLL2 (Cbl proto-oncogene like 2, HGNC:26371) is a protein-coding gene on chromosome Xp22.11, encoding E3 ubiquitin-protein ligase CBLL2 (Q8N7E2). E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.

This gene encodes a member of the zinc finger domain-containing protein family. This family member contains both a RING-type and a C2H2-type of zinc finger domain, and it may function as an E3 ubiquitin-protein ligase. Protein localization suggests a role in human sperm production and quality control.

Source: NCBI Gene 158506 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 69 total — 7 pathogenic
• GTEx eGene: eQTL in 1 tissue, sQTL in 0 (q < 0.05)
• MANE Select transcript: NM_152577
• Notable: 69 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26371
Approved symbol	CBLL2
Name	Cbl proto-oncogene like 2
Location	Xp22.11
Locus type	gene with protein product
Status	Approved
Aliases	FLJ25735, HAKAIL, CT138
Ensembl gene	ENSG00000175809
Ensembl biotype	protein_coding
Entrez	158506

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

MANE Select: ENST00000323684

ENST00000323684

RefSeq mRNA: 1 — MANE Select: NM_152577 NM_152577

CCDS: CCDS14205

Canonical transcript exons

ENST00000323684 — 1 exons

Exon	Start	End
ENSE00001284854	22272913	22274461

Expression profiles

Bgee: expression breadth broad, 11 present calls, max score 84.69.

Highest expression (Bgee): sperm, testis, upper leg skin, skin of hip, adult organism.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CBLL2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 1 tissue and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

1 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Testis	eqtl	2.0e-02	+0.17	X:21667685:T:C

Top tissues by expression

showing 100 of 235 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	84.69	gold quality
left testis	UBERON:0004533	72.81	gold quality
right testis	UBERON:0004534	70.84	gold quality
testis	UBERON:0000473	70.38	gold quality
upper leg skin	UBERON:0004262	52.71	silver quality
skin of hip	UBERON:0001554	52.52	silver quality
adult organism	UBERON:0007023	43.96	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
germinal epithelium of ovary	UBERON:0001304	41.99	gold quality
inferior vagus X ganglion	UBERON:0005363	41.75	gold quality
vastus lateralis	UBERON:0001379	41.41	gold quality
quadriceps femoris	UBERON:0001377	41.37	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
mucosa of paranasal sinus	UBERON:0005030	40.98	gold quality
amniotic fluid	UBERON:0000173	40.69	gold quality
jejunal mucosa	UBERON:0000399	40.59	gold quality
biceps brachii	UBERON:0001507	40.57	gold quality
epithelium of nasopharynx	UBERON:0001951	40.45	gold quality
myocardium	UBERON:0002349	40.45	gold quality
gingival epithelium	UBERON:0001949	40.43	gold quality
esophagus squamous epithelium	UBERON:0006920	40.29	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	40.27	gold quality
jejunum	UBERON:0002115	40.18	gold quality
mammary duct	UBERON:0001765	40.07	gold quality
cartilage tissue	UBERON:0002418	40.06	gold quality
oviduct epithelium	UBERON:0004804	40.03	gold quality
mucosa of sigmoid colon	UBERON:0004993	39.95	gold quality
bronchial epithelial cell	CL:0002328	39.84	gold quality
deltoid	UBERON:0001476	39.83	gold quality
saphenous vein	UBERON:0007318	39.83	gold quality
parotid gland	UBERON:0001831	39.81	gold quality
bronchus	UBERON:0002185	39.81	gold quality
oocyte	CL:0000023	39.80	gold quality
urethra	UBERON:0000057	39.80	gold quality
heart right ventricle	UBERON:0002080	39.79	gold quality
pericardium	UBERON:0002407	39.77	gold quality
layer of synovial tissue	UBERON:0007616	39.77	gold quality
endothelial cell	CL:0000115	39.75	gold quality
synovial joint	UBERON:0002217	39.70	gold quality
dorsal root ganglion	UBERON:0000044	39.68	gold quality
nipple	UBERON:0002030	39.68	gold quality
decidua	UBERON:0002450	39.65	gold quality
penis	UBERON:0000989	39.64	gold quality
gingiva	UBERON:0001828	39.64	gold quality
trigeminal ganglion	UBERON:0001675	39.63	gold quality
tendon of biceps brachii	UBERON:0008188	39.60	gold quality
superior surface of tongue	UBERON:0007371	39.56	gold quality
pylorus	UBERON:0001166	39.55	gold quality
renal medulla	UBERON:0000362	39.53	gold quality
pons	UBERON:0000988	39.51	gold quality
thymus	UBERON:0002370	39.50	gold quality
medulla oblongata	UBERON:0001896	39.48	gold quality
superior vestibular nucleus	UBERON:0007227	39.47	gold quality
cardia of stomach	UBERON:0001162	39.46	gold quality
colonic mucosa	UBERON:0000317	39.45	gold quality
parietal pleura	UBERON:0002400	39.45	gold quality
Brodmann (1909) area 23	UBERON:0013554	39.40	gold quality
dorsal plus ventral thalamus	UBERON:0001897	39.38	gold quality
tongue	UBERON:0001723	39.37	gold quality
cerebellar vermis	UBERON:0004720	39.37	gold quality
oral cavity	UBERON:0000167	39.35	gold quality
subthalamic nucleus	UBERON:0001906	39.35	gold quality
ventral tegmental area	UBERON:0002691	39.35	gold quality
trachea	UBERON:0003126	39.33	gold quality
parietal lobe	UBERON:0001872	39.32	gold quality
vena cava	UBERON:0004087	39.31	gold quality
pharyngeal mucosa	UBERON:0000355	39.27	gold quality
substantia nigra pars compacta	UBERON:0001965	39.23	gold quality
visceral pleura	UBERON:0002401	39.23	gold quality
postcentral gyrus	UBERON:0002581	39.23	gold quality
body of tongue	UBERON:0011876	39.22	gold quality
medial globus pallidus	UBERON:0002477	39.18	gold quality
trabecular bone tissue	UBERON:0002483	39.18	gold quality
globus pallidus	UBERON:0001875	39.15	gold quality
substantia nigra pars reticulata	UBERON:0001966	39.11	gold quality
entorhinal cortex	UBERON:0002728	39.05	gold quality
nasal cavity epithelium	UBERON:0005384	39.04	gold quality
lateral nuclear group of thalamus	UBERON:0002736	39.00	gold quality
corpus epididymis	UBERON:0004359	38.98	gold quality
tibia	UBERON:0000979	38.93	gold quality
lateral globus pallidus	UBERON:0002476	38.81	gold quality
seminal vesicle	UBERON:0000998	38.75	gold quality
caput epididymis	UBERON:0004358	38.75	gold quality
cauda epididymis	UBERON:0004360	38.74	gold quality
middle temporal gyrus	UBERON:0002771	38.72	gold quality
mammalian vulva	UBERON:0000997	38.66	gold quality
pigmented layer of retina	UBERON:0001782	38.55	gold quality
bone marrow cell	CL:0002092	38.36	gold quality
skeletal muscle tissue	UBERON:0001134	38.20	gold quality
Brodmann (1909) area 46	UBERON:0006483	37.40	gold quality
bone marrow	UBERON:0002371	37.23	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
muscle tissue	UBERON:0002385	37.18	gold quality
superior frontal gyrus	UBERON:0002661	36.54	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
mammary gland	UBERON:0001911	36.23	gold quality
placenta	UBERON:0001987	36.19	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.63

HPA expression

RNA tissue specificity: Tissue enriched

20 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Testis	tissue	7.1
Cerebellum	tissue	1.2
Midbrain	tissue	0.6
Medulla oblongata	tissue	0.6
Hypothalamus	tissue	0.6
Cerebral cortex	tissue	0.5
Pons	tissue	0.5
Basal ganglia	tissue	0.5
Thalamus	tissue	0.5
Putamen	tissue	0.4
Amygdala	tissue	0.4
Substantia nigra	tissue	0.4
Spinal cord	tissue	0.4
Hippocampal formation	tissue	0.4
Nucleus accumbens	tissue	0.3
Locus coeruleus	tissue	0.3
Hippocampus	tissue	0.3
Retrosplenial cortex	tissue	0.3
Occipital cortex	tissue	0.3
Postcentral gyrus	tissue	0.2

Brain sub-regions (HPA Brain Atlas): detected in 184; highest nTPM — Vermis (1.2), Flocculonodular lobe (1.0), Cerebellar cortex (0.9), Arcuate nucleus (0.6), Nucleus tractus solitarii (0.6).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting CBLL2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

15 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-370-5P	99.78	66.81	706
HSA-MIR-379-3P	99.69	69.60	1524
HSA-MIR-411-3P	99.69	69.63	1524
HSA-MIR-584-3P	99.35	67.69	1082
HSA-MIR-4635	98.74	67.63	1339
HSA-MIR-11399	98.71	65.69	869
HSA-MIR-4277	98.34	67.17	1323
HSA-MIR-93-3P	98.15	66.65	1309
HSA-MIR-6847-5P	97.93	66.74	1808
HSA-MIR-3928-3P	97.61	66.53	1096

Functional genomics

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000323684 — one region, missense o/e 1.01.

Literature-anchored findings (GeneRIF, showing 1)

• A novel RING finger protein, ZNF645, which is expressed specifically in human testis and sperm and has E3 ubiquitin ligase activity. (PMID:20657603)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
danio_rerio	cbll1	ENSDARG00000015222
drosophila_melanogaster	Hakai	FBGN0032812

Paralogs (1): CBLL1 (ENSG00000105879)

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Macaca fascicularis	Q4R7I8	99.6%	Diamond
Mus musculus	Q9JIY2	95.3%	Diamond
Gallus gallus	Q5ZHZ4	89.7%	Diamond
Xenopus laevis	Q4V7X9	75.3%	Diamond
Arabidopsis thaliana	Q9LFC0	38.4%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
PHEX-AS1	ncRNA	100873942
PTCHD1	protein-coding	139411
DDX53	protein-coding	168400
PHEX	protein-coding	5251
SMS	protein-coding	6611
PTCHD1-AS	ncRNA	100873065

Protein

Protein identifiers

E3 ubiquitin-protein ligase CBLL2 — Q8N7E2 (reviewed: Q8N7E2)

Alternative names: Cbl proto-oncogene-like protein 2, RING-type E3 ubiquitin transferase ZNF645, Zinc finger protein 645, c-Cbl-like protein 2

All UniProt accessions (1): Q8N7E2

UniProt curated annotations — full annotation on UniProt →

Function. E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. May operate on tyrosine-phosphorylated SRC substrates.

Subunit / interactions. Homodimer.

Subcellular location. Cytoplasm.

Tissue specificity. Exclusively expressed in testis and sperm, including spermatocytes, round and elongated spermatids, and Leydig cells.

Domain organisation. The HYB domain forms a phosphotyrosine-binding pocket upon dimerization, and mediates as well the recognition of its flanking acidic amino acids.

Pathway. Protein modification; protein ubiquitination.

RefSeq proteins (1): NP_689790* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001841	Znf_RING	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR013087	Zf-C2H2_type	Domain
IPR017907	Znf_RING_CS	Conserved_site
IPR040380	HAKAI-like_RING-HC	Domain
IPR040383	HAKAI/CBLL2	Family
IPR041042	Znf_Hakai	Domain

Pfam: PF18408

UniProt features (12 total): region of interest 3, zinc finger region 2, sequence conflict 2, compositionally biased region 2, sequence variant 2, chain 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N7E2-F1	55.14	0.18

Human Protein Atlas

Protein class: Enzymes, ENZYME proteins, Transferases, Metabolic proteins, Predicted intracellular proteins

Protein evidence: Evidence at protein level

Function

Pathways and Gene Ontology

Reactome pathways

1 curated (TAS) of 4; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

4 pathways:

ID	Pathway	Evidence
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation	curated
R-HSA-1280218	Adaptive Immune System	—
R-HSA-983169	Class I MHC mediated antigen processing & presentation	—
R-HSA-168256	Immune System	—

MSigDB gene sets: 20 (showing top): REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOCC_TRANSFERASE_COMPLEX, GOCC_METHYLTRANSFERASE_COMPLEX, GOMF_ACYLTRANSFERASE_ACTIVITY, GOMF_AMINOACYLTRANSFERASE_ACTIVITY, GOMF_UBIQUITIN_LIKE_PROTEIN_LIGASE_ACTIVITY, chrXp22, YAP1_DN, MIR448, MIR584_3P, MIR3928_3P, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION

GO Biological Process (2): protein ubiquitination (GO:0016567), regulation of cell adhesion (GO:0030155)

GO Molecular Function (5): zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), RNA N6-methyladenosine methyltransferase complex (GO:0036396)

Reactome top-level categories

3 top-level categories:

Category	Pathways
Class I MHC mediated antigen processing & presentation	1
Immune System	1
Adaptive Immune System	1

GO top-level categories

13 GO namespaces:

Category	Terms
protein modification by small protein conjugation	1
cell adhesion	1
regulation of cellular process	1
transition metal ion binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
binding	1
catalytic activity	1
cation binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1
methyltransferase complex	1

Protein interactions and networks

STRING

showing 15 of 618 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CBLL2	RNF151	Q2KHN1	390
CBLL2	OR1J4	Q8NGS1	390
CBLL2	UBQLN4	Q9NRR5	370
CBLL2	DNAJB2	P25686	368
CBLL2	DDX20	Q9UHI6	368
CBLL2	TRIM13	O60858	360
CBLL2	SMCO3	A2RU48	356
CBLL2	WTAP	Q15007	343
CBLL2	METTL14	Q9HCE5	342
CBLL2	NUP214	P35658	335
CBLL2	VIRMA	Q69YN4	325
CBLL2	OR5I1	Q13606	322
CBLL2	OR2B11	Q5JQS5	316
CBLL2	ZNF598	Q86UK7	315
CBLL2	ZC3H13	Q5T200	314

IntAct

Human interaction partners of CBLL2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

9 partners by confidence:

Partner	Interaction type	MIscore	Records
CYSRT1	physical association	0.560	3
KRTAP12-2	physical association	0.560	3
LONRF1	physical association	0.560	3
MAPK9	physical association	0.560	3
MDFI	physical association	0.560	3
PIH1D2	physical association	0.560	3
PRR13	physical association	0.560	3
SRSF10	association	0.350	2
COL1A1	association	0.350	1

SIGNOR signaling

1 signaling interactions:

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	CBLL2	ubiquitination

Disease & clinical

Genetic variants

Variant evidence for CBLL2: 69 ClinVar records (7 pathogenic / likely pathogenic). Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	7
Likely pathogenic	0
Uncertain significance	49
Likely benign	9
Benign	3

Top pathogenic / likely-pathogenic (7)

Showing all 7 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
438562	NC_000023.10:g.22256748_22370988del114241	Pathogenic	criteria provided, single submitter	1
830979	NC_000023.11:g.(?22168312)(22274269_?)del	Pathogenic	criteria provided, single submitter	1
831244	NC_000023.10:g.(?21990015)(22292386_?)del	Pathogenic	criteria provided, single submitter	1
831597	NC_000023.10:g.(?22094506)(22292386_?)del	Pathogenic	criteria provided, single submitter	1
832361	NC_000023.11:g.(?22245333)(22274269_?)del	Pathogenic	criteria provided, single submitter	1
989452	NC_000023.11:g.22213388_22345581del	Pathogenic	criteria provided, single submitter	1
1013602	NC_000023.11:g.22243338_22690207del	Pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore CBLL2’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 15 predictions of 41):

Position(s)	Effect	Δscore	Sites
X:22273042	donor_gain	0.7800
X:22274124	acceptor_gain	0.5300
X:22274087	acceptor_gain	0.4800
X:22274125	acceptor_gain	0.4700
X:22273075	donor_gain	0.4000
X:22274125	acceptor_gain	0.3700
X:22273027	donor_gain	0.3600
X:22274091–22274092	acceptor_loss	0.3600	5
X:22274090–22274092	acceptor_loss	0.3500	2
X:22274124	acceptor_gain	0.3400

AlphaMissense

261 missense substitutions predicted likely pathogenic (of 2,790 scored), across 68 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
H75	8	0.837	0.948
H133	8	0.812	0.935
H138	8	0.750	0.876
C57	7	0.926	0.950
C78	7	0.911	0.950
F112	7	0.905	0.983
C73	7	0.880	0.924
F77	7	0.879	0.978
C114	7	0.875	0.932
C93	7	0.868	0.942
C60	7	0.864	0.938
C120	7	0.850	0.926
C81	7	0.849	0.902
C96	7	0.823	0.907
G68	6	0.855	0.932
P63	6	0.810	0.911
P72	6	0.810	0.879
G47	6	0.796	0.930
V100	6	0.691	0.861
Y124	5	0.824	0.909

HPA cancer prognostics

RNA cancer specificity: Not detected

Disease associations

OMIM: gene `` | disease phenotypes: MIM:307800

GenCC curated gene-disease

Mondo (1): X-linked dominant hypophosphatemic rickets (MONDO:0010619)

Orphanet (1): X-linked hypophosphatemia (Orphanet:89936)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	affects methylation	1
Permethrin	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_XW72	HEK293 eGFP-ZNF645	Transformed cell line	Female

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

45 trials:

NCT	Phase	Status	Title
NCT03820518	Phase 4	UNKNOWN	Using Different Doses of Active Vitamin D Combined With Neutral Phosphate in Children With X-linked Hypophosphatemia
NCT04146935	Phase 4	COMPLETED	Examining the Effect of Burosumab on Muscle Function
NCT04419363	Phase 4	UNKNOWN	Burosumab in Children and Adolescents With X-linked Hypophosphatemia
NCT04842019	Phase 4	COMPLETED	Study to Assess the Safety, Pharmacokinetics and Efficacy of KRN23 in Adult Chinese Patients With XLH
NCT04842032	Phase 4	COMPLETED	Study to Assess the Safety, Pharmacokinetics and Efficacy of KRN23 in Pediatric Chinese Patients With XLH
NCT02526160	Phase 3	COMPLETED	Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH)
NCT02537431	Phase 3	COMPLETED	Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH)
NCT02915705	Phase 3	COMPLETED	Efficacy and Safety of Burosumab Versus Oral Phosphate and Active Vitamin D Treatment in Pediatric Patients With XLH
NCT03233126	Phase 3	COMPLETED	A Study of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia
NCT03920072	Phase 3	COMPLETED	Study of the Anti-FGF23 Antibody, Burosumab, in Adults With XLH
NCT04308096	Phase 3	COMPLETED	A Study of KRN23 in Adult and Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia
NCT04695860	Phase 3	COMPLETED	Anti-FGF23 (Burosumab) in Adult Patients With XLH
NCT04872907	Phase 3	UNKNOWN	Prevention of Spontaneous Dental Abscesses in Children With X-linked Hypophosphatemia : a RCT
NCT02163577	Phase 2	COMPLETED	Study of KRN23 (Burosumab), a Recombinant Fully Human Monoclonal Antibody Against Fibroblast Growth Factor 23 (FGF23), in Pediatric Subjects With X-linked Hypophosphatemia (XLH)
NCT02312687	Phase 2	COMPLETED	Long-Term Extension Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH)
NCT02750618	Phase 2	COMPLETED	Study of the Safety, Pharmacodynamics (PD) and Efficacy of KRN23 in Children From 1 to 4 Years Old With X-linked Hypophosphatemia (XLH)
NCT00195936	Phase 1	COMPLETED	Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic Rickets
NCT00830674	Phase 1	COMPLETED	A Study of KRN23 in X-linked Hypophosphatemia
NCT02181764	Phase 1	COMPLETED	A Study of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/Osteomalacia
NCT01340482	Phase 1/2	COMPLETED	A Repeated Study of KRN23 in Adults With X-Linked Hypophosphatemia
NCT01571596	Phase 1/2	COMPLETED	An Extension Study of KRN23 in Adults With X-Linked Hypophosphatemia
NCT02720770	Phase 1/2	COMPLETED	Growth Hormone Treatment in Children With Hypophosphatemic Rickets
NCT04188964	Phase 1/2	COMPLETED	Study to Assess the Safety, Tolerability, Pharmacokinetics and Efficacy of Burosumab in Patients Less Than 1 Year of Age
NCT06525636	Phase 1/2	RECRUITING	A First-in-human Study of KK8123 in Adults With X-linked Hypophosphatemia
NCT03748966	Early Phase 1	COMPLETED	Calcitriol Monotherapy for X-Linked Hypophosphatemia
NCT03771105	Early Phase 1	RECRUITING	The Impact of Phosphate Metabolism on Healthy Aging
NCT01652573	Not specified	COMPLETED	Calcitonin for Treating X-linked Hypophosphatemia
NCT03193476	Not specified	RECRUITING	Registry for Patients With X-Linked Hypophosphatemia
NCT03489993	Not specified	COMPLETED	FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP)
NCT03596554	Not specified	COMPLETED	X-linked Hypophosphatemia and FGF21
NCT03651505	Not specified	ACTIVE_NOT_RECRUITING	X-linked Hypophosphatemia Disease Monitoring Program
NCT03745521	Not specified	ACTIVE_NOT_RECRUITING	Study of Longitudinal Observation for Patient With X-linked Hypophosphatemic Rickets/Osteomalacia in Collaboration With Asian Partners
NCT03775187	Not specified	AVAILABLE	Expanded Access to Burosumab
NCT03879915	Not specified	UNKNOWN	Dental Implants in Patients With X-linked Hypophosphatemia
NCT04049877	Not specified	COMPLETED	Retrospective and Prospective Disease Progression and Quality of Life in XLH
NCT04273490	Not specified	COMPLETED	Characterising Pain, QoL, Body Composition, Arterial Stiffness, Muscles and Bones in Adult Persons With XLH and Healthy Controls
NCT04946409	Not specified	ACTIVE_NOT_RECRUITING	Burden of Disease and Functional Impairment in XLH
NCT05181839	Not specified	COMPLETED	A Study to Describe the Lived Experience of XLH for Adolescents at End of Skeletal Growth
NCT05312086	Not specified	UNKNOWN	Muscle Abnormalities in Children With XLH
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT06067932	Not specified	COMPLETED	Foot Disorders in X-linked Hypophosphatemia
NCT06248632	Not specified	UNKNOWN	Effect of Burosumab on the Inflammatory Profile of Patients With X-linked Hypophosphatemic Rickets FLAM-XLH
NCT06921720	Not specified	RECRUITING	Phosphorus-31 Spectroscopy in Phosphate Diabetes
NCT07183579	Not specified	RECRUITING	Effective Dosing of Burosumab in XLH
NCT07607600	Not specified	WITHDRAWN	Treatment Patterns, Biochemical Profiles and Clinical Outcomes in Adults With X-Linked Hypophosphatemia