ARHR1
MCID: HYP788
MIFTS: 28

Hypophosphatemic Rickets, Autosomal Recessive, 1 (ARHR1)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Muscle 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 57 72
Hypophosphatemic Rickets, Ar 57 29 13
Hypophosphatemia, Autosomal Recessive 57 6
Arhr1 57 72
Arhp 57 72
Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets 70
Hypophosphatemia, Autosomal Recessive; Arhp 57
Hypophosphatemia Autosomal Recessive 72
Arhr 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
hypophosphatemic rickets, autosomal recessive, 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 241520
OMIM Phenotypic Series 57 PS193100
MeSH 44 D012279
UMLS 70 C0342643

Summaries for Hypophosphatemic Rickets, Autosomal Recessive, 1

UniProtKB/Swiss-Prot : 72 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 autosomal recessive hypophosphatemic rickets and hypophosphatemic rickets, autosomal recessive, 2. 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 hypophosphatemia

More information from OMIM: 241520 PS193100

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 autosomal recessive hypophosphatemic rickets 11.4
2 hypophosphatemic rickets, autosomal recessive, 2 11.2
3 hypophosphatemic rickets, x-linked recessive 9.9
4 hypophosphatemia 9.9
5 rickets 9.9
6 dentinogenesis imperfecta 9.9

Graphical network of the top 20 diseases related to Hypophosphatemic Rickets, Autosomal Recessive, 1:



Diseases related to Hypophosphatemic Rickets, Autosomal Recessive, 1

Symptoms & Phenotypes for Hypophosphatemic Rickets, Autosomal Recessive, 1

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

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 hypophosphatemia 31 HP:0002148
3 rickets 31 HP:0002748
4 increased bone mineral density 31 HP:0011001
5 craniosynostosis 31 HP:0001363
6 hypophosphatemic rickets 31 HP:0004912

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

Drugs & Therapeutics for Hypophosphatemic Rickets, Autosomal Recessive, 1

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

Genetic Tests for Hypophosphatemic Rickets, Autosomal Recessive, 1

Genetic tests related to Hypophosphatemic Rickets, Autosomal Recessive, 1:

# Genetic test Affiliating Genes
1 Hypophosphatemic Rickets, Ar 29

Anatomical Context for Hypophosphatemic Rickets, Autosomal Recessive, 1

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

40
Bone

Publications for Hypophosphatemic Rickets, Autosomal Recessive, 1

Articles related to Hypophosphatemic Rickets, Autosomal Recessive, 1:

# Title Authors PMID Year
1
Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. 6 57
17033621 2006
2
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. 6 57
17033625 2006
3
Autosomal recessive hypophosphataemia. 57
2782942 1989
4
Renal hypophosphataemia has several mendelian forms. 57
2889114 1987
5
Sensorineural deafness associated with recessive hypophosphataemic rickets. 57
894124 1977
6
Recessive hypophosphataemic rickets, and possible aetiology of the 'vitamin D-resistant' syndrome. 57
180907 1976
7
Clinical Characteristics and Bone Features of Autosomal Recessive Hypophosphatemic Rickets Type 1 in Three Chinese Families: Report of Five Chinese Cases and Review of the Literature. 61
32920683 2020
8
Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy? 61
31843680 2020
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, 1

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

6 (show top 50) (show all 66)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DMP1 NM_004407.4(DMP1):c.1485_1491del (p.Tyr496fs) Deletion Pathogenic 8576 rs587776698 GRCh37: 4:88584414-88584420
GRCh38: 4:87663262-87663268
2 DMP1 NM_004407.4(DMP1):c.1A>G (p.Met1Val) SNV Pathogenic 8575 rs104893834 GRCh37: 4:88577645-88577645
GRCh38: 4:87656493-87656493
3 DMP1 NM_004407.4(DMP1):c.55-1G>C SNV Pathogenic 8574 rs587776697 GRCh37: 4:88578183-88578183
GRCh38: 4:87657031-87657031
4 DMP1 NM_004407.4(DMP1):c.362del (p.Pro121fs) Deletion Pathogenic 8573 rs587776696 GRCh37: 4:88583290-88583290
GRCh38: 4:87662138-87662138
5 DMP1 NM_004407.4(DMP1):c.*131T>C SNV Uncertain significance 905724 GRCh37: 4:88584603-88584603
GRCh38: 4:87663451-87663451
6 DMP1 NM_004407.4(DMP1):c.*373T>A SNV Uncertain significance 349994 rs183996325 GRCh37: 4:88584845-88584845
GRCh38: 4:87663693-87663693
7 DMP1 NM_004407.4(DMP1):c.1333G>A (p.Glu445Lys) SNV Uncertain significance 349984 rs761098924 GRCh37: 4:88584263-88584263
GRCh38: 4:87663111-87663111
8 DMP1 NM_004407.4(DMP1):c.*61C>T SNV Uncertain significance 349990 rs886059688 GRCh37: 4:88584533-88584533
GRCh38: 4:87663381-87663381
9 DMP1 NM_004407.4(DMP1):c.*602C>A SNV Uncertain significance 349996 rs886059689 GRCh37: 4:88585074-88585074
GRCh38: 4:87663922-87663922
10 DMP1 NM_004407.4(DMP1):c.709A>G (p.Met237Val) SNV Uncertain significance 349977 rs201413886 GRCh37: 4:88583639-88583639
GRCh38: 4:87662487-87662487
11 DMP1 NM_004407.4(DMP1):c.289A>G (p.Lys97Glu) SNV Uncertain significance 349971 rs886059685 GRCh37: 4:88583219-88583219
GRCh38: 4:87662067-87662067
12 DMP1 NM_004407.4(DMP1):c.815G>A (p.Arg272His) SNV Uncertain significance 349978 rs145237146 GRCh37: 4:88583745-88583745
GRCh38: 4:87662593-87662593
13 DMP1 NM_004407.4(DMP1):c.*438G>T SNV Uncertain significance 905726 GRCh37: 4:88584910-88584910
GRCh38: 4:87663758-87663758
14 DMP1 NM_004407.4(DMP1):c.879T>C (p.Ser293=) SNV Uncertain significance 198171 rs150896376 GRCh37: 4:88583809-88583809
GRCh38: 4:87662657-87662657
15 DMP1 NM_004407.4(DMP1):c.905G>T (p.Arg302Ile) SNV Uncertain significance 906175 GRCh37: 4:88583835-88583835
GRCh38: 4:87662683-87662683
16 DMP1 NM_004407.4(DMP1):c.996C>G (p.Asn332Lys) SNV Uncertain significance 906176 GRCh37: 4:88583926-88583926
GRCh38: 4:87662774-87662774
17 DMP1 NM_004407.4(DMP1):c.*527G>A SNV Uncertain significance 906239 GRCh37: 4:88584999-88584999
GRCh38: 4:87663847-87663847
18 DMP1 NM_004407.4(DMP1):c.*799T>C SNV Uncertain significance 906240 GRCh37: 4:88585271-88585271
GRCh38: 4:87664119-87664119
19 DMP1 NM_004407.4(DMP1):c.*808G>A SNV Uncertain significance 906241 GRCh37: 4:88585280-88585280
GRCh38: 4:87664128-87664128
20 DMP1 NM_004407.4(DMP1):c.11G>C (p.Ser4Thr) SNV Uncertain significance 282960 rs373562639 GRCh37: 4:88577655-88577655
GRCh38: 4:87656503-87656503
21 DMP1 NM_004407.4(DMP1):c.55-3T>G SNV Uncertain significance 288212 rs181490843 GRCh37: 4:88578181-88578181
GRCh38: 4:87657029-87657029
22 DMP1 NM_004407.4(DMP1):c.1255C>T (p.Pro419Ser) SNV Uncertain significance 907170 GRCh37: 4:88584185-88584185
GRCh38: 4:87663033-87663033
23 DMP1 NM_004407.4(DMP1):c.1356C>T (p.Asp452=) SNV Uncertain significance 907171 GRCh37: 4:88584286-88584286
GRCh38: 4:87663134-87663134
24 DMP1 NM_004407.4(DMP1):c.1433A>C (p.Asp478Ala) SNV Uncertain significance 499915 rs148156611 GRCh37: 4:88584363-88584363
GRCh38: 4:87663211-87663211
25 DMP1 NM_004407.4(DMP1):c.*875T>C SNV Uncertain significance 907243 GRCh37: 4:88585347-88585347
GRCh38: 4:87664195-87664195
26 DMP1 NM_004407.4(DMP1):c.*898G>T SNV Uncertain significance 907244 GRCh37: 4:88585370-88585370
GRCh38: 4:87664218-87664218
27 DMP1 NM_004407.4(DMP1):c.943G>C (p.Gly315Arg) SNV Uncertain significance 349980 rs149603030 GRCh37: 4:88583873-88583873
GRCh38: 4:87662721-87662721
28 DMP1 NM_004407.4(DMP1):c.*918T>G SNV Uncertain significance 350005 rs146337309 GRCh37: 4:88585390-88585390
GRCh38: 4:87664238-87664238
29 DMP1 NM_004407.4(DMP1):c.91G>A (p.Glu31Lys) SNV Uncertain significance 349969 rs202210004 GRCh37: 4:88578220-88578220
GRCh38: 4:87657068-87657068
30 DMP1 NM_004407.4(DMP1):c.*159T>A SNV Uncertain significance 349991 rs865870083 GRCh37: 4:88584631-88584631
GRCh38: 4:87663479-87663479
31 DMP1 NM_004407.4(DMP1):c.370A>C (p.Lys124Gln) SNV Uncertain significance 349972 rs886059686 GRCh37: 4:88583300-88583300
GRCh38: 4:87662148-87662148
32 DMP1 NM_004407.4(DMP1):c.1456A>G (p.Ile486Val) SNV Uncertain significance 349988 rs886059687 GRCh37: 4:88584386-88584386
GRCh38: 4:87663234-87663234
33 DMP1 NM_004407.4(DMP1):c.658C>A (p.Pro220Thr) SNV Uncertain significance 349975 rs367695473 GRCh37: 4:88583588-88583588
GRCh38: 4:87662436-87662436
34 DMP1 NM_004407.4(DMP1):c.*850G>A SNV Uncertain significance 350002 rs570065274 GRCh37: 4:88585322-88585322
GRCh38: 4:87664170-87664170
35 DMP1 NM_004407.4(DMP1):c.*695T>A SNV Uncertain significance 349999 rs886059690 GRCh37: 4:88585167-88585167
GRCh38: 4:87664015-87664015
36 DMP1 NM_004407.4(DMP1):c.1023C>T (p.Ser341=) SNV Uncertain significance 349981 rs140807822 GRCh37: 4:88583953-88583953
GRCh38: 4:87662801-87662801
37 DMP1 NM_004407.4(DMP1):c.1408G>A (p.Glu470Lys) SNV Uncertain significance 349986 rs369921592 GRCh37: 4:88584338-88584338
GRCh38: 4:87663186-87663186
38 DMP1 NM_004407.4(DMP1):c.674G>A (p.Ser225Asn) SNV Uncertain significance 349976 rs373051924 GRCh37: 4:88583604-88583604
GRCh38: 4:87662452-87662452
39 DMP1 NM_004407.4(DMP1):c.428C>T (p.Thr143Ile) SNV Uncertain significance 349973 rs370153862 GRCh37: 4:88583358-88583358
GRCh38: 4:87662206-87662206
40 DMP1 NM_004407.4(DMP1):c.1107C>T (p.Asp369=) SNV Uncertain significance 290776 rs147451774 GRCh37: 4:88584037-88584037
GRCh38: 4:87662885-87662885
41 DMP1 NM_004407.4(DMP1):c.159C>T (p.Gly53=) SNV Uncertain significance 903752 GRCh37: 4:88580606-88580606
GRCh38: 4:87659454-87659454
42 DMP1 NM_004407.4(DMP1):c.312C>T (p.Asp104=) SNV Uncertain significance 903753 GRCh37: 4:88583242-88583242
GRCh38: 4:87662090-87662090
43 DMP1 NM_004407.4(DMP1):c.313G>A (p.Asp105Asn) SNV Uncertain significance 903754 GRCh37: 4:88583243-88583243
GRCh38: 4:87662091-87662091
44 DMP1 NM_004407.4(DMP1):c.1534G>A (p.Gly512Ser) SNV Uncertain significance 903830 GRCh37: 4:88584464-88584464
GRCh38: 4:87663312-87663312
45 DMP1 NM_004407.4(DMP1):c.1538A>G (p.Tyr513Cys) SNV Uncertain significance 903831 GRCh37: 4:88584468-88584468
GRCh38: 4:87663316-87663316
46 DMP1 NM_004407.4(DMP1):c.*27C>T SNV Uncertain significance 903832 GRCh37: 4:88584499-88584499
GRCh38: 4:87663347-87663347
47 DMP1 NM_004407.4(DMP1):c.*77T>C SNV Uncertain significance 903833 GRCh37: 4:88584549-88584549
GRCh38: 4:87663397-87663397
48 DMP1 NM_004407.4(DMP1):c.542G>A (p.Gly181Asp) SNV Uncertain significance 905665 GRCh37: 4:88583472-88583472
GRCh38: 4:87662320-87662320
49 DMP1 NM_004407.4(DMP1):c.639G>A (p.Glu213=) SNV Likely benign 733883 rs116732769 GRCh37: 4:88583569-88583569
GRCh38: 4:87662417-87662417
50 DMP1 NM_004407.4(DMP1):c.724T>C (p.Ser242Pro) SNV Likely benign 905667 GRCh37: 4:88583654-88583654
GRCh38: 4:87662502-87662502

Expression for Hypophosphatemic Rickets, Autosomal Recessive, 1

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Pathways for Hypophosphatemic Rickets, Autosomal Recessive, 1

GO Terms for Hypophosphatemic Rickets, Autosomal Recessive, 1

Sources for Hypophosphatemic Rickets, Autosomal Recessive, 1

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
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30 HMDB
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32 ICD10
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57 OMIM® (Updated 20-May-2021)
61 PubMed
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