ARHR2
MCID: HYP369
MIFTS: 29

Hypophosphatemic Rickets, Autosomal Recessive, 2 (ARHR2)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Muscle diseases, Nephrological 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 72 29 13 6 70
Arhr2 57 72
Rickets, Hypophosphatemic, Autosomal Recessive, Type 2 39
Hypophosphatemia Autosomal Recessive 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
normal renal function
no vascular or periarticular calcifications


HPO:

31
hypophosphatemic rickets, autosomal recessive, 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 613312
OMIM Phenotypic Series 57 PS193100
MeSH 44 D012279
MedGen 41 C2750078
UMLS 70 C2750078

Summaries for Hypophosphatemic Rickets, Autosomal Recessive, 2

UniProtKB/Swiss-Prot : 72 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 phenotypes are carious teeth and delayed skeletal maturation

More information from OMIM: 613312 PS193100

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 11.5

Symptoms & Phenotypes for Hypophosphatemic Rickets, Autosomal Recessive, 2

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

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 carious teeth 31 very rare (1%) HP:0000670
2 delayed skeletal maturation 31 HP:0002750
3 short stature 31 HP:0004322
4 genu valgum 31 HP:0002857
5 pulmonic stenosis 31 HP:0001642
6 genu varum 31 HP:0002970
7 coxa valga 31 HP:0002673
8 hypoplasia of teeth 31 HP:0000685
9 hyperphosphaturia 31 HP:0003109
10 hypophosphatemic rickets 31 HP:0004912
11 medullary nephrocalcinosis 31 HP:0012408

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Height:
short stature

Skeletal Limbs:
genu valgum
genu varum
bowing of tibia
slight widening of the wrist
widening of growth pate of radius
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)

Laboratory Abnormalities:
hypophosphatemia
hyperphosphaturia
elevated plasma alkaline phosphatase
normal calcium level
normal calcium excretion
more
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 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hypophosphatemic Rickets, Autosomal Recessive, 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Natural History of Generalized Arterial Calcification of Infancy (GACI) With or Without Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) or Pseudoxanthoma Elasticum (PXE) Unknown status NCT03758534
2 A Natural History Study of Patients With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Completed NCT03478839

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:

40
Bone

Publications for Hypophosphatemic Rickets, Autosomal Recessive, 2

Articles related to Hypophosphatemic Rickets, Autosomal Recessive, 2:

# Title Authors PMID Year
1
Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. 57 6
20137772 2010
2
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. 6 57
20137773 2010
3
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. 57 6
12881724 2003
4
Genetic pathways disrupted by ENPP1 deficiency provide insight into mechanisms of osteoporosis, osteomalacia, and paradoxical mineralization. 61
32980560 2021
5
Response of the ENPP1-Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice. 61
33465815 2021
6
Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations. 61
31826312 2020
7
Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency. 61
31805212 2020
8
Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1. 61
25741938 2015
9
[Updates on rickets and osteomalacia: the therapy for FGF23 related rickets]. 61
24076648 2013
10
A patient with hypophosphatemic rickets and ossification of posterior longitudinal ligament caused by a novel homozygous mutation in ENPP1 gene. 61
21745613 2011

Variations for Hypophosphatemic Rickets, Autosomal Recessive, 2

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

6 (show top 50) (show all 180)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ENPP1 NM_006208.3(ENPP1):c.2702A>C (p.Tyr901Ser) SNV Pathogenic 13596 rs121908249 GRCh37: 6:132211575-132211575
GRCh38: 6:131890435-131890435
2 ENPP1 NM_006208.3(ENPP1):c.797G>T (p.Gly266Val) SNV Pathogenic 13594 rs121908248 GRCh37: 6:132181528-132181528
GRCh38: 6:131860388-131860388
3 ENPP1 NM_006208.3(ENPP1):c.2248dup (p.Ser750fs) Duplication Pathogenic 13595 rs587776797 GRCh37: 6:132204849-132204850
GRCh38: 6:131883709-131883710
4 ENPP1 NM_006208.3(ENPP1):c.430+1del Deletion Pathogenic 444060 rs1554278331 GRCh37: 6:132171246-132171246
GRCh38: 6:131850106-131850106
5 ENPP1 NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp) SNV Pathogenic 547983 rs373044722 GRCh37: 6:132194066-132194066
GRCh38: 6:131872926-131872926
6 ENPP1 NM_006208.3(ENPP1):c.2444+702_*868del Deletion Pathogenic 13593 GRCh37: 6:132206903-132212517
GRCh38: 6:131885763-131891377
7 ENPP1 NM_006208.3(ENPP1):c.323G>T (p.Cys108Phe) SNV Likely pathogenic 547984 rs763922486 GRCh37: 6:132171139-132171139
GRCh38: 6:131849999-131849999
8 ENPP1 NM_006208.3(ENPP1):c.313+15G>T SNV Uncertain significance 903942 GRCh37: 6:132169003-132169003
GRCh38: 6:131847863-131847863
9 ENPP1 NM_006208.3(ENPP1):c.443C>G (p.Thr148Ser) SNV Uncertain significance 903943 GRCh37: 6:132172294-132172294
GRCh38: 6:131851154-131851154
10 ENPP1 NM_006208.3(ENPP1):c.1653T>C (p.Tyr551=) SNV Uncertain significance 732180 rs1452598874 GRCh37: 6:132196933-132196933
GRCh38: 6:131875793-131875793
11 ENPP1 NM_006208.3(ENPP1):c.1724-5T>G SNV Uncertain significance 904011 GRCh37: 6:132198127-132198127
GRCh38: 6:131876987-131876987
12 ENPP1 NM_006208.3(ENPP1):c.2380G>A (p.Val794Ile) SNV Uncertain significance 904076 GRCh37: 6:132206139-132206139
GRCh38: 6:131884999-131884999
13 ENPP1 NM_006208.3(ENPP1):c.2415A>T (p.Gly805=) SNV Uncertain significance 904077 GRCh37: 6:132206174-132206174
GRCh38: 6:131885034-131885034
14 ENPP1 NM_006208.3(ENPP1):c.*128C>T SNV Uncertain significance 904142 GRCh37: 6:132211779-132211779
GRCh38: 6:131890639-131890639
15 ENPP1 NM_006208.3(ENPP1):c.*671T>C SNV Uncertain significance 904198 GRCh37: 6:132212322-132212322
GRCh38: 6:131891182-131891182
16 ENPP1 NM_006208.3(ENPP1):c.*1105T>C SNV Uncertain significance 904252 GRCh37: 6:132212756-132212756
GRCh38: 6:131891616-131891616
17 ENPP1 NM_006208.3(ENPP1):c.*1125G>T SNV Uncertain significance 904253 GRCh37: 6:132212776-132212776
GRCh38: 6:131891636-131891636
18 ENPP1 NM_006208.3(ENPP1):c.*1525T>G SNV Uncertain significance 904322 GRCh37: 6:132213176-132213176
GRCh38: 6:131892036-131892036
19 ENPP1 NM_006208.3(ENPP1):c.*3885C>T SNV Uncertain significance 904506 GRCh37: 6:132215536-132215536
GRCh38: 6:131894396-131894396
20 ENPP1 NM_006208.3(ENPP1):c.*3919C>T SNV Uncertain significance 904507 GRCh37: 6:132215570-132215570
GRCh38: 6:131894430-131894430
21 ENPP1 NM_006208.3(ENPP1):c.*3920G>A SNV Uncertain significance 904508 GRCh37: 6:132215571-132215571
GRCh38: 6:131894431-131894431
22 ENPP1 NM_006208.3(ENPP1):c.*4014C>A SNV Uncertain significance 904509 GRCh37: 6:132215665-132215665
GRCh38: 6:131894525-131894525
23 ENPP1 NM_006208.3(ENPP1):c.2444+10T>C SNV Uncertain significance 904854 GRCh37: 6:132206213-132206213
GRCh38: 6:131885073-131885073
24 ENPP1 NM_006208.3(ENPP1):c.*392G>A SNV Uncertain significance 904920 GRCh37: 6:132212043-132212043
GRCh38: 6:131890903-131890903
25 ENPP1 NM_006208.3(ENPP1):c.21G>T (p.Ala7=) SNV Uncertain significance 355324 rs886061063 GRCh37: 6:132129196-132129196
GRCh38: 6:131808056-131808056
26 ENPP1 NM_006208.3(ENPP1):c.*3450T>C SNV Uncertain significance 355417 rs886061081 GRCh37: 6:132215101-132215101
GRCh38: 6:131893961-131893961
27 ENPP1 NM_006208.3(ENPP1):c.*888C>T SNV Uncertain significance 355374 rs886061069 GRCh37: 6:132212539-132212539
GRCh38: 6:131891399-131891399
28 ENPP1 NM_006208.3(ENPP1):c.*848T>C SNV Uncertain significance 904978 GRCh37: 6:132212499-132212499
GRCh38: 6:131891359-131891359
29 ENPP1 NM_006208.3(ENPP1):c.*1618A>G SNV Uncertain significance 905122 GRCh37: 6:132213269-132213269
GRCh38: 6:131892129-131892129
30 ENPP1 NM_006208.3(ENPP1):c.*1716G>A SNV Uncertain significance 905123 GRCh37: 6:132213367-132213367
GRCh38: 6:131892227-131892227
31 ENPP1 NM_006208.3(ENPP1):c.*2543T>G SNV Uncertain significance 905182 GRCh37: 6:132214194-132214194
GRCh38: 6:131893054-131893054
32 ENPP1 NM_006208.3(ENPP1):c.*3600G>T SNV Uncertain significance 905237 GRCh37: 6:132215251-132215251
GRCh38: 6:131894111-131894111
33 ENPP1 NM_006208.3(ENPP1):c.*3602C>T SNV Uncertain significance 905238 GRCh37: 6:132215253-132215253
GRCh38: 6:131894113-131894113
34 ENPP1 NM_006208.3(ENPP1):c.*4047C>T SNV Uncertain significance 905295 GRCh37: 6:132215698-132215698
GRCh38: 6:131894558-131894558
35 ENPP1 NM_006208.3(ENPP1):c.157A>G (p.Met53Val) SNV Uncertain significance 906278 GRCh37: 6:132129332-132129332
GRCh38: 6:131808192-131808192
36 ENPP1 NM_006208.3(ENPP1):c.214C>T (p.Pro72Ser) SNV Uncertain significance 906279 GRCh37: 6:132129389-132129389
GRCh38: 6:131808249-131808249
37 ENPP1 NM_006208.3(ENPP1):c.685G>A (p.Gly229Ser) SNV Uncertain significance 906337 GRCh37: 6:132176133-132176133
GRCh38: 6:131854993-131854993
38 ENPP1 NM_006208.3(ENPP1):c.1056T>G (p.Ala352=) SNV Uncertain significance 193688 rs150279426 GRCh37: 6:132185676-132185676
GRCh38: 6:131864536-131864536
39 ENPP1 NM_006208.3(ENPP1):c.1998G>A (p.Gln666=) SNV Uncertain significance 905886 GRCh37: 6:132201072-132201072
GRCh38: 6:131879932-131879932
40 ENPP1 NM_006208.3(ENPP1):c.*516T>C SNV Uncertain significance 906514 GRCh37: 6:132212167-132212167
GRCh38: 6:131891027-131891027
41 ENPP1 NM_006208.3(ENPP1):c.*902G>A SNV Uncertain significance 906566 GRCh37: 6:132212553-132212553
GRCh38: 6:131891413-131891413
42 ENPP1 NM_006208.3(ENPP1):c.*1239T>C SNV Uncertain significance 906628 GRCh37: 6:132212890-132212890
GRCh38: 6:131891750-131891750
43 ENPP1 NM_006208.3(ENPP1):c.*4332C>T SNV Uncertain significance 906897 GRCh37: 6:132215983-132215983
GRCh38: 6:131894843-131894843
44 ENPP1 NM_006208.3(ENPP1):c.*4369C>T SNV Uncertain significance 906898 GRCh37: 6:132216020-132216020
GRCh38: 6:131894880-131894880
45 ENPP1 NM_006208.3(ENPP1):c.313+11G>T SNV Uncertain significance 907283 GRCh37: 6:132168999-132168999
GRCh38: 6:131847859-131847859
46 ENPP1 NM_006208.3(ENPP1):c.313+13G>T SNV Uncertain significance 903941 GRCh37: 6:132169001-132169001
GRCh38: 6:131847861-131847861
47 ENPP1 NM_006208.3(ENPP1):c.2191A>T (p.Asn731Tyr) SNV Uncertain significance 907409 GRCh37: 6:132203575-132203575
GRCh38: 6:131882435-131882435
48 ENPP1 NM_006208.3(ENPP1):c.*120C>T SNV Uncertain significance 907459 GRCh37: 6:132211771-132211771
GRCh38: 6:131890631-131890631
49 ENPP1 NM_006208.3(ENPP1):c.10G>A (p.Asp4Asn) SNV Uncertain significance 905766 GRCh37: 6:132129185-132129185
GRCh38: 6:131808045-131808045
50 ENPP1 NM_006208.3(ENPP1):c.522C>T (p.Gly174=) SNV Uncertain significance 722482 rs144882196 GRCh37: 6:132172373-132172373
GRCh38: 6:131851233-131851233

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

72
# 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

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

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
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32 ICD10
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
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68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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