MCID: HYP788
MIFTS: 22

Hypophosphatemic Rickets, Autosomal Recessive, 1

Categories: Genetic diseases, Nephrological diseases, Bone diseases, Endocrine diseases, Fetal 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 57 75
Hypophosphatemic Rickets, Ar 57 13
Arhr1 57 75
Arhp 57 75
Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets 73
Hypophosphatemia, Autosomal Recessive; Arhp 57
Hypophosphatemia, Autosomal Recessive 57
Hypophosphatemia Autosomal Recessive 75
Arhr 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
hypophosphatemic rickets, autosomal recessive, 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 241520
MedGen 42 C0342643
MeSH 44 D012279
UMLS 73 C0342643

Summaries for Hypophosphatemic Rickets, Autosomal Recessive, 1

UniProtKB/Swiss-Prot : 75 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). Affiliated tissues include bone, and related phenotypes are sensorineural hearing impairment and craniosynostosis

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 11.0
2 autosomal recessive hypophosphatemic rickets 10.9

Symptoms & Phenotypes for Hypophosphatemic Rickets, Autosomal Recessive, 1

Symptoms via clinical synopsis from OMIM:

57
Skel:
vitamin d resistant infantile rickets
increased bone density

Lab:
hypophosphatemia

HEENT:
early fusion of cranial sutures
nerve deafness


Clinical features from OMIM:

241520

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 craniosynostosis 32 HP:0001363
3 hypophosphatemia 32 HP:0002148
4 rickets 32 HP:0002748
5 hypophosphatemic rickets 32 HP:0004912
6 increased bone mineral density 32 HP:0011001

Drugs & Therapeutics for Hypophosphatemic Rickets, Autosomal Recessive, 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Recruiting NCT03478839
2 FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP) Not yet 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:

41
Bone

Publications for Hypophosphatemic Rickets, Autosomal Recessive, 1

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

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

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17 ExPASy
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62 PubMed
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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