DMP1

Summary

DMP1 (dentin matrix acidic phosphoprotein 1, HGNC:2932) is a protein-coding gene on chromosome 4q22.1, encoding Dentin matrix acidic phosphoprotein 1 (Q13316). May have a dual function during osteoblast differentiation.

Dentin matrix acidic phosphoprotein is an extracellular matrix protein and a member of the small integrin binding ligand N-linked glycoprotein family. This protein, which is critical for proper mineralization of bone and dentin, is present in diverse cells of bone and tooth tissues. The protein contains a large number of acidic domains, multiple phosphorylation sites, a functional arg-gly-asp cell attachment sequence, and a DNA binding domain. In undifferentiated osteoblasts it is primarily a nuclear protein that regulates the expression of osteoblast-specific genes. During osteoblast maturation the protein becomes phosphorylated and is exported to the extracellular matrix, where it orchestrates mineralized matrix formation. Mutations in the gene are known to cause autosomal recessive hypophosphatemia, a disease that manifests as rickets and osteomalacia. The gene structure is conserved in mammals. Two transcript variants encoding different isoforms have been described for this gene.

Source: NCBI Gene 1758 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hypophosphatemic rickets, autosomal recessive, 1 (Definitive, GenCC) — +1 more curated relationship
• GWAS associations: 5
• Clinical variants (ClinVar): 250 total — 10 pathogenic, 3 likely-pathogenic
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_004407

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2932
Approved symbol	DMP1
Name	dentin matrix acidic phosphoprotein 1
Location	4q22.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000152592
Ensembl biotype	protein_coding
OMIM	600980
Entrez	1758

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding_CDS_not_defined, 2 protein_coding, 1 nonsense_mediated_decay

ENST00000282479, ENST00000339673, ENST00000682752, ENST00000682781, ENST00000683764, ENST00000684240, ENST00000684389

RefSeq mRNA: 2 — MANE Select: NM_004407 NM_001079911, NM_004407

CCDS: CCDS3623, CCDS43249

Canonical transcript exons

ENST00000339673 — 6 exons

Exon	Start	End
ENSE00001006072	87659220	87659252
ENSE00001006073	87659431	87659478
ENSE00001006075	87657032	87657079
ENSE00001374293	87656472	87656546
ENSE00003889887	87661962	87664357
ENSE00003890133	87650280	87650384

Expression profiles

Bgee: expression breadth broad, 40 present calls, max score 97.43.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1271 / max 153.8603, expressed in 21 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
48740	0.1271	21

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
periodontal ligament	UBERON:0008266	97.43	gold quality
tibia	UBERON:0000979	96.40	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	71.18	silver quality
trabecular bone tissue	UBERON:0002483	71.12	silver quality
diaphragm	UBERON:0001103	68.24	gold quality
vena cava	UBERON:0004087	64.92	silver quality
olfactory bulb	UBERON:0002264	63.23	silver quality
lower lobe of lung	UBERON:0008949	61.50	silver quality
tendon of biceps brachii	UBERON:0008188	60.65	silver quality
cerebellar vermis	UBERON:0004720	60.06	gold quality
secondary oocyte	CL:0000655	58.88	gold quality
pons	UBERON:0000988	56.60	silver quality
sperm	CL:0000019	56.15	silver quality
male germ cell	CL:0000015	55.90	silver quality
vastus lateralis	UBERON:0001379	55.73	gold quality
oocyte	CL:0000023	55.55	gold quality
quadriceps femoris	UBERON:0001377	55.33	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	54.76	gold quality
inferior olivary complex	UBERON:0002127	54.27	gold quality
medial globus pallidus	UBERON:0002477	53.88	silver quality
jejunal mucosa	UBERON:0000399	53.17	gold quality
heart right ventricle	UBERON:0002080	52.68	gold quality
Brodmann (1909) area 46	UBERON:0006483	52.63	gold quality
mucosa of paranasal sinus	UBERON:0005030	52.31	gold quality
bone element	UBERON:0001474	52.00	silver quality
deltoid	UBERON:0001476	51.21	gold quality
epithelial cell of pancreas	CL:0000083	50.46	gold quality
frontal pole	UBERON:0002795	50.41	gold quality
middle frontal gyrus	UBERON:0002702	50.30	gold quality
hair follicle	UBERON:0002073	50.23	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.44

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

67 targeting DMP1, 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-3613-3P	100.00	76.36	7965
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-202-3P	99.84	71.41	1290
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-200A-5P	99.76	69.10	949

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• Three SIBLINGs (small integrin-binding ligand, N-linked glycoproteins) enhance factor H’s cofactor activity enabling MCP-like cellular evasion of complement-mediated attack. (PMID:11825898)
• DMP1 immunostaining intensity and extent scores were significantly higher in adenocarcinoma (p = 0.0004) and squamous carcinoma (p < 0.0001) samples compared with adjacent normal lung tissue (PMID:12929940)
• dentin matrix protein-1 is processed by Bone morphogenetic protein-1/Tolloid-like proteinases (PMID:14578349)
• Findings indicate that DMP1 immunohistochemistry is a useful tool for identifying phosphaturic mesenchymal tumors (PMTs). (PMID:15001995)
• a silencing cis-element may play a critical role in the regulation of DMP1 cell-specific expression (PMID:15108359)
• DMP1 is expressed in salivary gland ducts. (PMID:15329369)
• 8-kb region of the Dentin matrix protein 1 (DMP1) gene is a target for mechanotransduction in osteocytes, and its cis-regulatory activity may be correlated to local strain in bone (PMID:15728181)
• DMP1 is expressed in parietal cells of Bowman’s capsule and throughout the ductal system of nephrons. (PMID:15954904)
• Deletion of mouse Dmp1 results in bone hypomineralization. (PMID:16294270)
• Dentin matrix protein 1 enhances invasion potential of colon cancer cells by bridging matrix metalloproteinase-9 to integrins and CD44 (PMID:16357164)
• analysis of a chondroitin sulfate chain attached to the bone dentin matrix protein 1 NH2-terminal fragment (PMID:16421105)
• DMP1 regulates the expression of the DSPP gene (PMID:16679514)
• Absence of DMP1 results in defective osteocyte maturation and increased FGF23 expression, leading to pathological changes in bone mineralization. (PMID:17033621)
• DMP1 may regulate FGF23 expression. (PMID:17033625)
• DMP1 has a role in breast cancer progression and bone metastases development (PMID:17136477)
• Thus, our results suggest that Cbfalpha1 upregulates DMP1 gene expression differentially that may contribute to the spatial-temporal expression pattern of DMP1 during odontoblast differentiation. (PMID:17434448)
• Discussion of DMP1 role in the maturation of odontoblasts and osteoblasts as well as in mineralization; identification of DMP1 mutations in autosomal-recessive hypophosphatemic rickets; and regulation of phosphate homeostasis through FGF23 [review]. (PMID:18037646)
• mRNA of DMP1 involved in the pathogenesis of hypophosphataemic rickets is highly expressed in cells of the osteoblasts/osteocyte lineage. (PMID:18214537)
• inactivating mutations in DMP1 increase, through yet unknown mechanisms, FGF23 synthesis and thus enhance renal phosphate excretion–REVIEW (PMID:18660670)
• binding of DMP1 with GRP-78 receptor might be an important mechanism by which DMP1 is internalized and transported to the nucleus during bone and tooth development (PMID:18757373)
• Dentin matrix protein-1 isoforms promote differential cell attachment and migration (PMID:18819913)
• A novel DMP1 deletion is identified as the cause of autosomal recessive hypophosphatemic rickets, as well as demonstrated that the ARHR mutations alter DMP1 cellular processing, and that DMP1 can be regulated by vitamin D. (PMID:19007919)
• The patterns of expression of FGF-23, MEPE, and DMP1 differ markedly in trabecular bone, suggesting that individual osteocytes may have specialized functions. (PMID:19679205)
• The identified genetic mutation underscores the importance of DMP-1 mutations in the pathogenesis of autosomal recessive form of hypophosphatemia. (PMID:19796717)
• study describes a Japanese family that includes 2 autosomal recessive hypophosphatemic rickets-affected siblings carrying a novel mutation of the DMP1 gene (98G>A, W33X), which leads to a truncated DMP protein with no putative biological function (PMID:20213538)
• clinical and laboratory observations in this family confirm that DMP1 has an important role in normal skeletal development and mineral homeostasis (PMID:20499351)
• Data show the wide spectrum of genetic variation that can be seen in PHEX, FGF23 and DMP1 when screening a large cohort with hypophosphatemic rickets. (PMID:21050253)
• Study shows the pivotal roles of Dmp1 in HER2/neu-p53 signaling and breast carcinogenesis. (PMID:21062982)
• after VE-cadherin induction by DMP1, DMP1 inhibited VEGFR-2 phosphorylation and Src-mediated signaling; DMP1 is identified as a new specific inhibitor of VEGF-induced angiogenesis (PMID:21190990)
• possible role of dentine matrix protein 1 in the aetiology of [aggressive periodontitis] (PMID:21299946)
• DMP1 is specifically involved in signaling via extracellular matrix-cell surface interaction. (PMID:21642437)
• Simvastatin plus all-trans retinoic acid reduces expression of WT1 and DMP1 in the promyelocytic leukemia cell line NB4. (PMID:22093791)
• DMP-1 stimulated production of IL-6/IL-8 from pulp fibroblasts. Inhibition of p38 mitogen-activated protein kinase pathway blocked proinflammatory effect on pulp fibroblasts. DMP-1 might participate in development of inflammatory changes in pulp. (PMID:22152625)
• DMP1 is regulated post-transcriptionally by let-7 during odontoblast differentiation. (PMID:22552299)
• Mutations in PHEX and DMP1 play a role in causing hypophosphatemic rickets. (PMID:22695891)
• DMP-1 is a matrix marker expressed around osteocytes in human woven and lamellar bone and is useful in identifying osteosarcoma and other bone-forming tumours. (PMID:23559304)
• DMP1 and DSPP were more abundant in carious than in sound samples. (PMID:24441185)
• DMP1 may play an important role in maintaining the chondrogenic phenotype and its possible involvement in altered cartilage matrix remodelling and degradation in disease conditions like osteoarthritis. (PMID:24987156)
• Results suggest that FAM20C suppresses FGF23 production by enhancing DMP1 expression, and inactivating mutations in FAM20C cause FGF23-related hypophosphatemia by decreasing transcription of DMP1. (PMID:25026495)
• A family of autosomal recessive form of Hypophosphatemic rickets secondary to a DMP1 mutation located in the first coding exon of the gene, is reported. (PMID:25180662)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Dmp1	ENSMUSG00000029307
rattus_norvegicus	Dmp1	ENSRNOG00000002167

Protein

Protein identifiers

Dentin matrix acidic phosphoprotein 1 — Q13316 (reviewed: Q13316)

All UniProt accessions (2): Q13316, A0A804HJB8

UniProt curated annotations — full annotation on UniProt →

Function. May have a dual function during osteoblast differentiation. In the nucleus of undifferentiated osteoblasts, unphosphorylated form acts as a transcriptional component for activation of osteoblast-specific genes like osteocalcin. During the osteoblast to osteocyte transition phase it is phosphorylated and exported into the extracellular matrix, where it regulates nucleation of hydroxyapatite.

Subunit / interactions. Interacts with importin alpha.

Subcellular location. Nucleus. Cytoplasm. Secreted. Extracellular space. Extracellular matrix.

Tissue specificity. Expressed in tooth particularly in odontoblast, ameloblast and cementoblast.

Post-translational modifications. Phosphorylated in the cytosol and extracellular matrix and unphosphorylated in the nucleus. Phosphorylation is necessary for nucleocytoplasmic transport and may be catalyzed by a nuclear isoform of CK2 and can be augmented by calcium. Phosphorylated (in vitro) by FAM20C in the extracellular medium at sites within the S-x-E/pS motif.

Disease relevance. Hypophosphatemic rickets, autosomal recessive, 1 (ARHR1) [MIM:241520] A hereditary form of hypophosphatemic rickets, a disorder of proximal renal tubule function that causes phosphate loss, hypophosphatemia and skeletal deformities, including rickets and osteomalacia unresponsive to vitamin D. Symptoms are bone pain, fractures and growth abnormalities. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
Q13316-1	1	yes
Q13316-2	2

RefSeq proteins (2): NP_001073380, NP_004398* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009889	DMP1	Family

Pfam: PF07263

UniProt features (32 total): compositionally biased region 15, glycosylation site 8, sequence variant 4, signal peptide 1, chain 1, region of interest 1, splice variant 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13316-F1	47.80	0.00

Functional residue map

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

Glycosylation sites (8): 25, 285, 324, 345, 351, 413, 426, 467

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-3000178	ECM proteoglycans
R-HSA-381426	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275	Post-translational protein phosphorylation

MSigDB gene sets: 210 (showing top): GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, RACCACAR_AML_Q6, GOBP_TOOTH_MINERALIZATION, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, NKX61_01, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, YGACNNYACAR_UNKNOWN, GOBP_ENAMEL_MINERALIZATION, MORF_ZNF10, MCLACHLAN_DENTAL_CARIES_DN, GROSS_HYPOXIA_VIA_ELK3_DN, GROSS_HYPOXIA_VIA_HIF1A_DN

GO Biological Process (5): ossification (GO:0001503), positive regulation of cell-substrate adhesion (GO:0010811), extracellular matrix organization (GO:0030198), biomineral tissue development (GO:0031214), regulation of enamel mineralization (GO:0070173)

GO Molecular Function (3): integrin binding (GO:0005178), calcium ion binding (GO:0005509), extracellular matrix binding (GO:0050840)

GO Cellular Component (5): extracellular region (GO:0005576), nucleus (GO:0005634), endoplasmic reticulum lumen (GO:0005788), extracellular matrix (GO:0031012), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Extracellular matrix organization	1
Metabolism of proteins	1
Post-translational protein modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
multicellular organismal process	1
regulation of cell-substrate adhesion	1
cell-substrate adhesion	1
positive regulation of cell adhesion	1
extracellular structure organization	1
external encapsulating structure organization	1
tissue development	1
animal organ development	1
enamel mineralization	1
regulation of tooth mineralization	1
signaling receptor binding	1
protein-containing complex binding	1
cell adhesion molecule binding	1
metal ion binding	1
binding	1
intracellular membrane-bounded organelle	1
endoplasmic reticulum	1
intracellular organelle lumen	1
external encapsulating structure	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

846 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DMP1	MMP9	P14780	982
DMP1	MEPE	Q9NQ76	981
DMP1	DSPP	Q9NZW4	979
DMP1	IBSP	P21815	963
DMP1	SPP1	P10451	920
DMP1	FGF23	Q9GZV9	899
DMP1	MMP3	P08254	873
DMP1	PHEX	P78562	871
DMP1	BGLAP	P02818	788
DMP1	SOST	Q9BQB4	774
DMP1	PTH	P01270	735
DMP1	ENAM	Q9NRM1	710
DMP1	RUNX2	Q13950	709
DMP1	SP7	Q8TDD2	670
DMP1	AMBN	Q9NP70	659

IntAct

1 interactions, top by confidence:

BioGRID (3): CCND2 (Reconstituted Complex), CCND2 (Affinity Capture-Western), DMP1 (Affinity Capture-MS)

ESM2 similar proteins: A0A060XQP6, A0A1S4FQ37, A2VD23, A3KQQ9, A7E371, B3A0Q3, B3EWZ0, B3EWZ1, B3EWZ4, B7W112, D1FQ14, E9Q9K5, G5EC21, O01949, O16883, O43493, O46203, O55188, O84462, P08721, P10451, P10923, P13665, P14287, P19814, P23498, P31096, P31097, P31098, P31936, P35662, P35663, P98193, Q13316, Q14093, Q28139, Q5MIT9, Q5SRN2, Q5UQ32, Q62313

Diamond homologs: O55188, P98193, Q13316, Q95120

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
FAM20C	“up-regulates quantity”	DMP1	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	10
Likely pathogenic	3
Uncertain significance	136
Likely benign	64
Benign	19

Top pathogenic / likely-pathogenic (13)

Variant ID	HGVS	Classification
1339444	NM_004407.4(DMP1):c.2T>A (p.Met1Lys)	Pathogenic
1400066	NM_004407.4(DMP1):c.445G>T (p.Glu149Ter)	Pathogenic
1456849	NM_004407.4(DMP1):c.4A>T (p.Lys2Ter)	Pathogenic
3606166	NM_004407.4(DMP1):c.1288C>T (p.Gln430Ter)	Pathogenic
3624144	NM_004407.4(DMP1):c.683dup (p.Asn229fs)	Pathogenic
3655799	NM_004407.4(DMP1):c.55-2A>T	Pathogenic
4732576	NM_004407.4(DMP1):c.273del (p.Ser92fs)	Pathogenic
4809279	NM_004407.4(DMP1):c.54+1G>A	Pathogenic
595958	NM_004407.4(DMP1):c.98G>A (p.Trp33Ter)	Pathogenic
8575	NM_004407.4(DMP1):c.1A>G (p.Met1Val)	Pathogenic
2734659	NM_004407.4(DMP1):c.184-1G>A	Likely pathogenic
3906100	NM_004407.4(DMP1):c.534del (p.Glu179fs)	Likely pathogenic
505906	NM_004407.4(DMP1):c.979C>T (p.Gln327Ter)	Likely pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

3529 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:87663303:T:A	C509S	0.986
4:87663304:G:C	C509S	0.986
4:87663295:A:T	D506V	0.985
4:87663303:T:C	C509R	0.984
4:87663295:A:C	D506A	0.982
4:87663299:T:A	N507K	0.980
4:87663299:T:G	N507K	0.980
4:87663305:C:G	C509W	0.980
4:87663294:G:C	D506H	0.979
4:87663301:A:T	D508V	0.974
4:87663301:A:C	D508A	0.973
4:87662103:A:C	S109R	0.972
4:87662105:T:A	S109R	0.972
4:87662105:T:G	S109R	0.972
4:87663304:G:A	C509Y	0.972
4:87663291:G:C	D505H	0.967
4:87663308:A:C	Q510H	0.967
4:87663308:A:T	Q510H	0.967
4:87663309:G:C	D511H	0.965
4:87663298:A:T	N507I	0.958
4:87663300:G:C	D508H	0.958
4:87663302:C:A	D508E	0.958
4:87663302:C:G	D508E	0.958
4:87663304:G:T	C509F	0.957
4:87663310:A:T	D511V	0.957
4:87663301:A:G	D508G	0.956
4:87663292:A:C	D505A	0.955
4:87663292:A:T	D505V	0.955
4:87656526:G:A	G12R	0.954
4:87656526:G:C	G12R	0.954

dbSNP variants (sampled 300 via entrez): RS1000018575 (4:87649179 C>T), RS1000057758 (4:87648717 A>G,T), RS1000132666 (4:87653663 G>A), RS1000469308 (4:87651935 C>T), RS1000505451 (4:87651594 T>C), RS1000785455 (4:87664615 T>C), RS1001316649 (4:87664425 T>G), RS1001346047 (4:87664211 G>A,C,T), RS1001356905 (4:87655580 C>T), RS1001574565 (4:87657404 C>A), RS1001722946 (4:87650042 A>G), RS10019009 (4:87661983 A>G,T), RS1002027219 (4:87652225 C>T), RS1002058299 (4:87651989 T>A), RS1002177471 (4:87649938 C>T)

Disease associations

OMIM: gene MIM:600980 | disease phenotypes: MIM:241520

GenCC curated gene-disease

Disease	Classification	Inheritance
hypophosphatemic rickets, autosomal recessive, 1	Definitive	Autosomal recessive
autosomal recessive hypophosphatemic rickets	Supportive	Autosomal recessive

Mondo (3): hypophosphatemic rickets, autosomal recessive, 1 (MONDO:0009430), hypophosphatemic rickets (MONDO:0024300), autosomal recessive hypophosphatemic rickets (MONDO:0017324)

Orphanet (1): Autosomal recessive hypophosphatemic rickets (Orphanet:289176)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST001713_23	Dental caries	7.000000e-08
GCST006288_207	Heel bone mineral density	8.000000e-10
GCST006288_314	Heel bone mineral density	9.000000e-06
GCST006288_525	Heel bone mineral density	8.000000e-14
GCST006979_440	Heel bone mineral density	7.000000e-33

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009270	heel bone mineral density

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D063730	Rickets, Hypophosphatemic	C05.116.198.816.875; C18.452.104.816.875; C18.452.174.845.875; C18.452.750.400.750; C18.654.521.500.133.770.734.875
C562792	Hypophosphatemic Rickets, Autosomal Recessive, 1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
beta-glycerophosphoric acid	affects cotreatment, increases expression, decreases reaction	2
Dexamethasone	affects cotreatment, increases expression, decreases reaction	2
tributyltin	affects cotreatment, decreases reaction, increases expression	1
ascorbate-2-phosphate	increases expression, decreases reaction, affects cotreatment	1
lead nitrate	affects cotreatment, decreases reaction, increases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases expression	1
CGP 52608	affects binding, increases reaction	1
2,2’,4,4’,5-brominated diphenyl ether	decreases expression	1
bisphenol S	increases expression	1
Rosiglitazone	increases expression, affects cotreatment, decreases reaction	1
Bexarotene	decreases reaction, increases expression, affects cotreatment	1
Ascorbic Acid	affects cotreatment, increases expression, decreases reaction	1
Benzo(a)pyrene	increases methylation	1
Cannabidiol	increases expression	1
Phosphates	decreases reaction, increases expression	1
Foscarnet	decreases reaction, increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT06046820	PHASE3	ACTIVE_NOT_RECRUITING	The ENERGY 3 Study: Evaluation of Efficacy and Safety of INZ-701 in Children With ENPP1 Deficiency
NCT07473973	PHASE3	RECRUITING	ENERGY 2: Evaluation of the Efficacy and Safety of INZ-701 in Infants With ENPP1 Deficiency
NCT01237288	PHASE3	COMPLETED	Therapeutic Use of Oral Sodium Phosphate (Z-521) in Primary Hypophosphatemic Rickets
NCT03581591	PHASE3	COMPLETED	Open Label Trial Assessing Safety and Efficacy of Burosumab (KRN23), in a Patient With ENS and Hypophosphatemic Rickets
NCT06739980	PHASE2	WITHDRAWN	The ENABLE Study: Safety and Efficacy Study of INZ-701 in Patients With ENPP1 Deficiency
NCT05734196	PHASE1	RECRUITING	The ENERGY Study: Evaluation of Safety and Tolerability of INZ-701 in Infants With ENPP1 Deficiency or ABCC6 Deficiency
NCT00473187	PHASE1	UNKNOWN	Effects of GH on Body Proportions and Final Height in X-Linked Hypophosphatemic Rickets
NCT04686175	PHASE1/PHASE2	COMPLETED	Evaluation of Safety, Tolerability, and Efficacy of INZ-701 in Adults With ENPP1 Deficiency
NCT03758534	Not specified	UNKNOWN	Natural History of GACI With or Without ARHR2 or PXE
NCT05050669	Not specified	COMPLETED	Natural History Study of ENPP1 Deficiency and the Early-onset Form of ABCC6 Deficiency
NCT03748966	EARLY_PHASE1	COMPLETED	Calcitriol Monotherapy for X-Linked Hypophosphatemia
NCT00844740	Not specified	WITHDRAWN	Calcimimetics in Hypophosphatemic Rickets
NCT01578824	Not specified	COMPLETED	Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent Patients
NCT03348644	Not specified	COMPLETED	Milk Products in the Treatment of Hypophosphatemic Rickets
NCT03651505	Not specified	ACTIVE_NOT_RECRUITING	X-linked Hypophosphatemia Disease Monitoring Program
NCT04184661	Not specified	COMPLETED	Burosumab and 1-25 (OH) Vitamin D on Human Osteoclasts