ARHR1
MCID: HYP788
MIFTS: 25

Hypophosphatemic Rickets, Autosomal Recessive, 1 (ARHR1)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Hypophosphatemic Rickets, Autosomal Recessive, 1

MalaCards integrated aliases for Hypophosphatemic Rickets, Autosomal Recessive, 1:

Name: Hypophosphatemic Rickets, Autosomal Recessive, 1 58 76
Hypophosphatemic Rickets, Ar 58 13
Arhr1 58 76
Arhp 58 76
Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets 74
Hypophosphatemia, Autosomal Recessive; Arhp 58
Hypophosphatemia, Autosomal Recessive 58
Hypophosphatemia Autosomal Recessive 76
Arhr 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
hypophosphatemic rickets, autosomal recessive, 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 241520
MeSH 45 D012279
UMLS 74 C0342643

Summaries for Hypophosphatemic Rickets, Autosomal Recessive, 1

UniProtKB/Swiss-Prot : 76 Hypophosphatemic rickets, autosomal recessive, 1: 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.

MalaCards based summary : Hypophosphatemic Rickets, Autosomal Recessive, 1, also known as hypophosphatemic rickets, ar, is related to hypophosphatemic rickets, autosomal recessive, 2 and autosomal recessive hypophosphatemic rickets. An important gene associated with Hypophosphatemic Rickets, Autosomal Recessive, 1 is DMP1 (Dentin Matrix Acidic Phosphoprotein 1). The drugs Angiotensin II and Vasodilator Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are sensorineural hearing impairment and hypophosphatemia

Description from OMIM: 241520

Related Diseases for Hypophosphatemic Rickets, Autosomal Recessive, 1

Diseases in the Hereditary Hypophosphatemic Rickets family:

Hypophosphatemic Rickets, Autosomal Dominant Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic Rickets, Autosomal Recessive, 2 Autosomal Recessive Hypophosphatemic Rickets

Diseases related to Hypophosphatemic Rickets, Autosomal Recessive, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypophosphatemic rickets, autosomal recessive, 2 11.2
2 autosomal recessive hypophosphatemic rickets 11.1

Symptoms & Phenotypes for Hypophosphatemic Rickets, Autosomal Recessive, 1

Human phenotypes related to Hypophosphatemic Rickets, Autosomal Recessive, 1:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 33 HP:0000407
2 hypophosphatemia 33 HP:0002148
3 rickets 33 HP:0002748
4 increased bone mineral density 33 HP:0011001
5 craniosynostosis 33 HP:0001363
6 hypophosphatemic rickets 33 HP:0004912

Symptoms via clinical synopsis from OMIM:

58
Lab:
hypophosphatemia

H E E N T:
nerve deafness
early fusion of cranial sutures

Skel:
increased bone density
vitamin d resistant infantile rickets

Clinical features from OMIM:

241520

Drugs & Therapeutics for Hypophosphatemic Rickets, Autosomal Recessive, 1

Drugs for Hypophosphatemic Rickets, Autosomal Recessive, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational 11128-99-7, 68521-88-0, 4474-91-3 172198
2 Vasodilator Agents
3 Antihypertensive Agents
4 Angiotensinogen
5 Angiotensin I (1-7)

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP) Recruiting NCT03489993

Search NIH Clinical Center for Hypophosphatemic Rickets, Autosomal Recessive, 1

Genetic Tests for Hypophosphatemic Rickets, Autosomal Recessive, 1

Anatomical Context for Hypophosphatemic Rickets, Autosomal Recessive, 1

MalaCards organs/tissues related to Hypophosphatemic Rickets, Autosomal Recessive, 1:

42
Bone

Publications for Hypophosphatemic Rickets, Autosomal Recessive, 1

Articles related to Hypophosphatemic Rickets, Autosomal Recessive, 1:

# Title Authors Year
1
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. ( 17033625 )
2006
2
Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. ( 17033621 )
2006

Variations for Hypophosphatemic Rickets, Autosomal Recessive, 1

ClinVar genetic disease variations for Hypophosphatemic Rickets, Autosomal Recessive, 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DMP1 NM_004407.3(DMP1): c.362delC (p.Pro121Glnfs) deletion Pathogenic rs587776696 GRCh37 Chromosome 4, 88583292: 88583292
2 DMP1 NM_004407.3(DMP1): c.362delC (p.Pro121Glnfs) deletion Pathogenic rs587776696 GRCh38 Chromosome 4, 87662140: 87662140
3 DMP1 NM_004407.3(DMP1): c.55-1G> C single nucleotide variant Pathogenic rs587776697 GRCh37 Chromosome 4, 88578183: 88578183
4 DMP1 NM_004407.3(DMP1): c.55-1G> C single nucleotide variant Pathogenic rs587776697 GRCh38 Chromosome 4, 87657031: 87657031
5 DMP1 NM_004407.3(DMP1): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs104893834 GRCh37 Chromosome 4, 88577645: 88577645
6 DMP1 NM_004407.3(DMP1): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs104893834 GRCh38 Chromosome 4, 87656493: 87656493
7 DMP1 NM_004407.3(DMP1): c.1485_1491delCTATCAC (p.Tyr496Thrfs) deletion Pathogenic rs587776698 GRCh37 Chromosome 4, 88584415: 88584421
8 DMP1 NM_004407.3(DMP1): c.1485_1491delCTATCAC (p.Tyr496Thrfs) deletion Pathogenic rs587776698 GRCh38 Chromosome 4, 87663263: 87663269
9 DMP1 NM_004407.3(DMP1): c.815G> A (p.Arg272His) single nucleotide variant Uncertain significance rs145237146 GRCh38 Chromosome 4, 87662593: 87662593
10 DMP1 NM_004407.3(DMP1): c.815G> A (p.Arg272His) single nucleotide variant Uncertain significance rs145237146 GRCh37 Chromosome 4, 88583745: 88583745

Expression for Hypophosphatemic Rickets, Autosomal Recessive, 1

Search GEO for disease gene expression data for Hypophosphatemic Rickets, Autosomal Recessive, 1.

Pathways for Hypophosphatemic Rickets, Autosomal Recessive, 1

GO Terms for Hypophosphatemic Rickets, Autosomal Recessive, 1

Sources for Hypophosphatemic Rickets, Autosomal Recessive, 1

3 CDC
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10 dbSNP
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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