MCID: HYP369
MIFTS: 21

Hypophosphatemic Rickets, Autosomal Recessive, 2

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

Aliases & Classifications for Hypophosphatemic Rickets, Autosomal Recessive, 2

MalaCards integrated aliases for Hypophosphatemic Rickets, Autosomal Recessive, 2:

Name: Hypophosphatemic Rickets, Autosomal Recessive, 2 57 75 29 13 6 73
Arhr2 57 75
Rickets, Hypophosphatemic, Autosomal Recessive, Type 2 40
Hypophosphatemia Autosomal Recessive 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
normal renal function
no vascular or periarticular calcifications


HPO:

32
hypophosphatemic rickets, autosomal recessive, 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613312
MedGen 42 C2750078
MeSH 44 D012279
SNOMED-CT via HPO 69 258211005 66266003
UMLS 73 C2750078

Summaries for Hypophosphatemic Rickets, Autosomal Recessive, 2

UniProtKB/Swiss-Prot : 75 Hypophosphatemic rickets, autosomal recessive, 2: 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, 2, also known as arhr2, is related to hypophosphatemic rickets, autosomal recessive, 1. An important gene associated with Hypophosphatemic Rickets, Autosomal Recessive, 2 is ENPP1 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 1). Affiliated tissues include bone, and related phenotype is hypophosphatemic rickets.

Description from OMIM: 613312

Related Diseases for Hypophosphatemic Rickets, Autosomal Recessive, 2

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, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypophosphatemic rickets, autosomal recessive, 1 11.3

Symptoms & Phenotypes for Hypophosphatemic Rickets, Autosomal Recessive, 2

Symptoms via clinical synopsis from OMIM:

57
Skeletal Limbs:
genu valgum
genu varum
bowing of tibia
slight widening of the wrist
widening of growth pate of radius
more
Laboratory Abnormalities:
hypophosphatemia
hyperphosphaturia
elevated plasma alkaline phosphatase
normal calcium level
normal calcium excretion
more
Head And Neck Teeth:
hypoplastic teeth (in 1 patient)
dental caries (rare)

Cardiovascular Vascular:
aortic root dissection (in 1 patient)
pulmonary stenosis, mild (in 1 patient)

Skeletal Pelvis:
coxa valga (in 1 patient)

Growth Height:
short stature

Skeletal:
delayed bone age

Cardiovascular Heart:
thickening of aortic valves (in 1 patient)

Genitourinary Kidneys:
medullary nephrocalcinosis (in 1 patient)


Clinical features from OMIM:

613312

Human phenotypes related to Hypophosphatemic Rickets, Autosomal Recessive, 2:

32
# Description HPO Frequency HPO Source Accession
1 hypophosphatemic rickets 32 HP:0004912

Drugs & Therapeutics for Hypophosphatemic Rickets, Autosomal Recessive, 2

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, 2

Genetic Tests for Hypophosphatemic Rickets, Autosomal Recessive, 2

Genetic tests related to Hypophosphatemic Rickets, Autosomal Recessive, 2:

# Genetic test Affiliating Genes
1 Hypophosphatemic Rickets, Autosomal Recessive, 2 29 ENPP1

Anatomical Context for Hypophosphatemic Rickets, Autosomal Recessive, 2

MalaCards organs/tissues related to Hypophosphatemic Rickets, Autosomal Recessive, 2:

41
Bone

Publications for Hypophosphatemic Rickets, Autosomal Recessive, 2

Variations for Hypophosphatemic Rickets, Autosomal Recessive, 2

UniProtKB/Swiss-Prot genetic disease variations for Hypophosphatemic Rickets, Autosomal Recessive, 2:

75
# Symbol AA change Variation ID SNP ID
1 ENPP1 p.Gly266Val VAR_063719 rs121908248
2 ENPP1 p.Tyr901Ser VAR_063720 rs121908249
3 ENPP1 p.Gly92Asp VAR_077255
4 ENPP1 p.Asn792Ser VAR_077280 rs370184526

ClinVar genetic disease variations for Hypophosphatemic Rickets, Autosomal Recessive, 2:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 ENPP1 NG_008206.1: g.82749_88363del5615 deletion Pathogenic GRCh38 Chromosome 6, 131885764: 131891378
2 ENPP1 NG_008206.1: g.82749_88363del5615 deletion Pathogenic GRCh37 Chromosome 6, 132206904: 132212518
3 ENPP1 NM_006208.2(ENPP1): c.797G> T (p.Gly266Val) single nucleotide variant Pathogenic rs121908248 GRCh37 Chromosome 6, 132181528: 132181528
4 ENPP1 NM_006208.2(ENPP1): c.797G> T (p.Gly266Val) single nucleotide variant Pathogenic rs121908248 GRCh38 Chromosome 6, 131860388: 131860388
5 ENPP1 NM_006208.2(ENPP1): c.2248dupA (p.Ser750Lysfs) duplication Pathogenic rs587776797 GRCh37 Chromosome 6, 132204851: 132204851
6 ENPP1 NM_006208.2(ENPP1): c.2248dupA (p.Ser750Lysfs) duplication Pathogenic rs587776797 GRCh38 Chromosome 6, 131883711: 131883711
7 ENPP1 NM_006208.2(ENPP1): c.2702A> C (p.Tyr901Ser) single nucleotide variant Pathogenic rs121908249 GRCh37 Chromosome 6, 132211575: 132211575
8 ENPP1 NM_006208.2(ENPP1): c.2702A> C (p.Tyr901Ser) single nucleotide variant Pathogenic rs121908249 GRCh38 Chromosome 6, 131890435: 131890435
9 ENPP1 NM_006208.2(ENPP1): c.430+1delG deletion Pathogenic GRCh37 Chromosome 6, 132171247: 132171247
10 ENPP1 NM_006208.2(ENPP1): c.430+1delG deletion Pathogenic GRCh38 Chromosome 6, 131850107: 131850107
11 ENPP1 NM_006208.2(ENPP1): c.288delG (p.Leu97Terfs) deletion Pathogenic GRCh37 Chromosome 6, 132168963: 132168963
12 ENPP1 NM_006208.2(ENPP1): c.288delG (p.Leu97Terfs) deletion Pathogenic GRCh38 Chromosome 6, 131847823: 131847823

Expression for Hypophosphatemic Rickets, Autosomal Recessive, 2

Search GEO for disease gene expression data for Hypophosphatemic Rickets, Autosomal Recessive, 2.

Pathways for Hypophosphatemic Rickets, Autosomal Recessive, 2

GO Terms for Hypophosphatemic Rickets, Autosomal Recessive, 2

Sources for Hypophosphatemic Rickets, Autosomal Recessive, 2

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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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