ARHR
MCID: ATS239
MIFTS: 50

Autosomal Recessive Hypophosphatemic Rickets (ARHR)

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

Aliases & Classifications for Autosomal Recessive Hypophosphatemic Rickets

MalaCards integrated aliases for Autosomal Recessive Hypophosphatemic Rickets:

Name: Autosomal Recessive Hypophosphatemic Rickets 12 58 36 15
Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets 71
Arhr 58

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive hypophosphatemic rickets
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare renal diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Autosomal Recessive Hypophosphatemic Rickets

KEGG : 36 Autosomal recessive hypophosphatemic rickets (ARHR) is a rare form of hypophosphatemic rickets that is caused by mutations in the DMP1 gene. DMP1 is highly expressed in mineralized tissues, especially in osteoblasts and osteocytes, and is a key regulatory protein that is required for the normal growth and development of bone, cartilage and dentin. Recently, ARHR associated with a mutation in the ENPP1 gene has also been reported.

MalaCards based summary : Autosomal Recessive Hypophosphatemic Rickets, also known as autosomal recessive hypophosphatemic vitamin d refractory rickets, is related to arterial calcification of infancy and dentinogenesis imperfecta. An important gene associated with Autosomal Recessive Hypophosphatemic Rickets is ENPP1 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 1), and among its related pathways/superpathways are ECM-receptor interaction and Parathyroid hormone synthesis, secretion and action. Affiliated tissues include bone, skeletal muscle and kidney, and related phenotypes are hypophosphatemic rickets and skeletal dysplasia

Disease Ontology : 12 A rickets that has material basis in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.

Related Diseases for Autosomal Recessive Hypophosphatemic Rickets

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 Autosomal Recessive Hypophosphatemic Rickets via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 92)
# Related Disease Score Top Affiliating Genes
1 arterial calcification of infancy 30.9 SLC34A3 PHEX KL GALNT3 FGF23 FAM20C
2 dentinogenesis imperfecta 29.9 MEPE IBSP DSPP DMP1
3 hypophosphatemic rickets, x-linked recessive 29.9 SLC34A3 SFRP4 PHEX MEPE FGF23 ENPP1
4 rickets 29.2 SLC34A3 PTH PHEX MEPE KL IBSP
5 hypophosphatemia 28.6 SLC34A3 SFRP4 PTH PHEX MEPE KL
6 osteomalacia 28.5 SOST SLC34A3 SFRP4 PTH PHEX MEPE
7 hypophosphatemic rickets, x-linked dominant 26.8 SOST SLC34A3 SFRP4 PTH PHEX MEPE
8 hypophosphatemic rickets, autosomal recessive, 2 10.4
9 opsismodysplasia 10.3 PHEX FGF23
10 microcephaly and chorioretinopathy 1 10.3 FGF23 FAM20C
11 dentinogenesis imperfecta 1 10.3 DSPP DMP1
12 fanconi renotubular syndrome 2 10.3 SLC34A3 PHEX
13 hypercementosis 10.2 ENPP1 DSPP
14 suppurative periapical periodontitis 10.2 PHEX DSPP
15 dentin caries 10.2 MEPE DSPP
16 periapical periodontitis 10.2 IBSP DSPP
17 raine syndrome 10.2 FGF23 FAM20C DMP1
18 hypophosphatasia, adult 10.2 PTH ENPP1
19 dental pulp calcification 10.2 GALNT3 DSPP
20 hepatocellular clear cell carcinoma 10.2 KL FGF23
21 dentin dysplasia, type ii 10.2 IBSP DSPP DMP1
22 dental pulp disease 10.2 IBSP DSPP DMP1
23 acute apical periodontitis 10.2 STATH PHEX
24 calciphylaxis 10.1 PTH FGF23
25 arterial calcification, generalized, of infancy, 1 10.1
26 hypophosphatemic rickets, autosomal recessive, 1 10.1
27 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
28 nephrolithiasis 10.1 SLC34A3 PTH FGF23
29 hypophosphatasia, childhood 10.1 PTH IBSP ENPP1
30 osteitis fibrosa 10.1 PTH FGF23
31 tooth erosion 10.1 STATH DSPP
32 tracheal calcification 10.1 PTH KL FGF23
33 root caries 10.1 STATH DSPP
34 hyperlipoproteinemia, type v 10.1 KL FGF23
35 sclerosteosis 1 10.1 SOST DMP1
36 angioid streaks 10.1 GALNT3 ENPP1
37 colon sarcoma 10.1 IBSP CYP27B1
38 tooth resorption 10.1 PTH IBSP DSPP
39 dental pulp necrosis 10.0 MEPE IBSP DSPP DMP1
40 dentin dysplasia 10.0 MEPE IBSP DSPP DMP1
41 pulmonary alveolar microlithiasis 10.0 SLC34A3 MEPE GALNT3 FGF23
42 mccune-albright syndrome 10.0 SOST IBSP FGF23
43 familial tumoral calcinosis 10.0 PHEX KL GALNT3 FGF23
44 teeth hard tissue disease 10.0 STATH FAM20C DSPP
45 skin atrophy 10.0 KL FGF23 CYP27B1
46 calcification of joints and arteries 10.0 ENPP1 ARSJ
47 renal osteodystrophy 10.0 SOST PTH FGF23
48 nephrolithiasis/osteoporosis, hypophosphatemic, 1 10.0 SLC34A3 PTH KL FGF23
49 hypocalcemia, autosomal dominant 1 10.0 PTH FGF23 CYP27B1
50 ischemic bone disease 10.0 SOST PTH IBSP

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



Diseases related to Autosomal Recessive Hypophosphatemic Rickets

Symptoms & Phenotypes for Autosomal Recessive Hypophosphatemic Rickets

Human phenotypes related to Autosomal Recessive Hypophosphatemic Rickets:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypophosphatemic rickets 58 31 obligate (100%) Obligate (100%) HP:0004912
2 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
3 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 delayed eruption of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000684
6 osteomalacia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002749
7 increased bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0011001
8 genu varum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002970
9 coxa vara 58 31 hallmark (90%) Very frequent (99-80%) HP:0002812
10 lower limb asymmetry 58 31 hallmark (90%) Very frequent (99-80%) HP:0100559
11 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
12 sclerotic vertebral endplates 58 31 hallmark (90%) Very frequent (99-80%) HP:0004576
13 rickets of the lower limbs 58 31 hallmark (90%) Very frequent (99-80%) HP:0006463
14 polyarticular arthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005764
15 hyperphosphaturia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003109
16 renal hypophosphatemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008732
17 abnormal trabecular bone morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0100671
18 renal phosphate wasting 58 31 hallmark (90%) Very frequent (99-80%) HP:0000117
19 enlargement of the wrists 58 31 hallmark (90%) Very frequent (99-80%) HP:0003020
20 distal femoral bowing 58 31 hallmark (90%) Very frequent (99-80%) HP:0005096
21 elevated alkaline phosphatase of bone origin 58 31 hallmark (90%) Very frequent (99-80%) HP:0010639
22 abnormality of renal excretion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011036
23 low serum calcitriol 58 31 hallmark (90%) Very frequent (99-80%) HP:0012052
24 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
25 spinal canal stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0003416
26 craniosynostosis 58 31 frequent (33%) Frequent (79-30%) HP:0001363
27 abnormality of the sacroiliac joint 58 31 frequent (33%) Frequent (79-30%) HP:0100781
28 tibial bowing 58 31 frequent (33%) Frequent (79-30%) HP:0002982
29 tooth abscess 58 31 frequent (33%) Frequent (79-30%) HP:0030757
30 enthesitis 58 31 frequent (33%) Frequent (79-30%) HP:0100686
31 pseudo-fractures 58 31 frequent (33%) Frequent (79-30%) HP:0100036
32 seizures 58 Excluded (0%)
33 muscle weakness 58 Excluded (0%)
34 growth delay 58 Very frequent (99-80%)
35 abnormality of the lower limb 58 Very frequent (99-80%)
36 hypocalcemic tetany 58 Excluded (0%)
37 abnormality of vitamin d metabolism 58 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Autosomal Recessive Hypophosphatemic Rickets according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.44 DSPP SLC34A3
2 Decreased viability GR00249-S 9.44 ENPP1 SOST
3 Decreased viability GR00381-A-1 9.44 DSPP FAM20C SLC34A3
4 Decreased viability GR00386-A-1 9.44 FAM20C IBSP KL SLC34A3
5 Decreased viability GR00402-S-2 9.44 DSPP ENPP1

MGI Mouse Phenotypes related to Autosomal Recessive Hypophosphatemic Rickets:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.22 CYP27B1 DMP1 ENPP1 FAM20C FGF23 GALNT3
2 homeostasis/metabolism MP:0005376 10.13 CYP27B1 DMP1 EMP1 ENPP1 FAM20C FGF23
3 craniofacial MP:0005382 10.11 CYP27B1 DMP1 ENPP1 FAM20C GALNT3 IBSP
4 hematopoietic system MP:0005397 10.11 CYP27B1 DMP1 FAM20C FGF23 GALNT3 IBSP
5 digestive/alimentary MP:0005381 10.03 FAM20C FGF23 GALNT3 IBSP KL PHEX
6 immune system MP:0005387 10.03 CYP27B1 DMP1 ENPP1 FAM20C FGF23 GALNT3
7 limbs/digits/tail MP:0005371 9.93 CYP27B1 DMP1 ENPP1 FAM20C FGF23 GALNT3
8 renal/urinary system MP:0005367 9.65 CYP27B1 DMP1 ENPP1 FAM20C FGF23 GALNT3
9 skeleton MP:0005390 9.47 CYP27B1 DMP1 ENPP1 FAM20C FGF23 GALNT3

Drugs & Therapeutics for Autosomal Recessive Hypophosphatemic Rickets

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 Autosomal Recessive Hypophosphatemic Rickets

Genetic Tests for Autosomal Recessive Hypophosphatemic Rickets

Anatomical Context for Autosomal Recessive Hypophosphatemic Rickets

MalaCards organs/tissues related to Autosomal Recessive Hypophosphatemic Rickets:

40
Bone, Skeletal Muscle, Kidney

Publications for Autosomal Recessive Hypophosphatemic Rickets

Articles related to Autosomal Recessive Hypophosphatemic Rickets:

(show top 50) (show all 53)
# Title Authors PMID Year
1
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. 6 61
20137773 2010
2
Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. 6 61
20137772 2010
3
Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. 6 61
17033621 2006
4
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. 6
17033625 2006
5
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. 6
12881724 2003
6
New Therapies for Hypophosphatemia-Related to FGF23 Excess. 61
32504139 2021
7
Genetic pathways disrupted by ENPP1 deficiency provide insight into mechanisms of osteoporosis, osteomalacia, and paradoxical mineralization. 61
32980560 2021
8
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
9
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
10
Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approach to Management. 61
32172442 2020
11
Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations. 61
31826312 2020
12
Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency. 61
31805212 2020
13
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
14
FGF23 and Associated Disorders of Phosphate Wasting. 61
31599133 2019
15
A Mutation in the Dmp1 Gene Alters Phosphate Responsiveness in Mice. 61
28005411 2017
16
Sclerostin antibody (Scl-Ab) improves osteomalacia phenotype in dentin matrix protein 1(Dmp1) knockout mice with little impact on serum levels of phosphorus and FGF23. 61
26721590 2016
17
Transgenic expression of Dspp partially rescued the long bone defects of Dmp1-null mice. 61
26686820 2016
18
Atraumatic diplaced bilateral femoral neck fracture in a patient with hypophosphatemic rickets in postpartum period: A missed diagnosis. 61
27771603 2016
19
Skeletal Muscle, but not Cardiovascular Function, Is Altered in a Mouse Model of Autosomal Recessive Hypophosphatemic Rickets. 61
27242547 2016
20
Hypophosphatemic rickets developed after treatment with etidronate disodium in a patient with generalized arterial calcification in infancy. 61
28377967 2015
21
Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1. 61
25741938 2015
22
Hypophosphatemic rickets: lessons from disrupted FGF23 control of phosphorus homeostasis. 61
25620749 2015
23
Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar. 61
24102521 2014
24
Hearing loss is part of the clinical picture of ENPP1 loss of function mutation. 61
24216977 2014
25
[Updates on rickets and osteomalacia: FGF23-mediated hypophosphatemic rickets/osteomalacia]. 61
24076640 2013
26
Osteocyte regulation of phosphate homeostasis and bone mineralization underlies the pathophysiology of the heritable disorders of rickets and osteomalacia. 61
23403405 2013
27
Pharmacological inhibition of fibroblast growth factor (FGF) receptor signaling ameliorates FGF23-mediated hypophosphatemic rickets. 61
23129509 2013
28
Mineralizing enthesopathy is a common feature of renal phosphate-wasting disorders attributed to FGF23 and is exacerbated by standard therapy in hyp mice. 61
23038738 2012
29
Hypophosphatemic rickets. 61
23108197 2012
30
Amelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null mice. 61
22732358 2012
31
Mutational analysis of patients with FGF23-related hypophosphatemic rickets. 61
22577109 2012
32
The chicken or the egg: PHEX, FGF23 and SIBLINGs unscrambled. 61
22573484 2012
33
[Osteocyte and DMP1]. 61
22549196 2012
34
Regulation of bone-renal mineral and energy metabolism: the PHEX, FGF23, DMP1, MEPE ASARM pathway. 61
22339660 2012
35
A patient with hypophosphatemic rickets and ossification of posterior longitudinal ligament caused by a novel homozygous mutation in ENPP1 gene. 61
21745613 2011
36
ASARM peptides: PHEX-dependent and -independent regulation of serum phosphate. 61
21177780 2011
37
Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets. 61
21050253 2011
38
A novel nonsense mutation in the DMP1 gene identified by a genome-wide association study is responsible for inherited rickets in Corriedale sheep. 61
21747952 2011
39
DMP1 C-terminal mutant mice recapture the human ARHR tooth phenotype. 61
20499360 2010
40
A novel nonsense mutation in the DMP1 gene in a Japanese family with autosomal recessive hypophosphatemic rickets. 61
20213538 2010
41
Hypophosphatemia induced by intravenous administration of saccharated ferric oxide: another form of FGF23-related hypophosphatemia. 61
19555782 2009
42
A familial disorder with low bone density and renal phosphate wasting. 61
19712854 2009
43
Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets. 61
19007919 2009
44
Studies of the DMP1 57-kDa functional domain both in vivo and in vitro. 61
18728349 2009
45
Pathogenic role of Fgf23 in Dmp1-null mice. 61
18559986 2008
46
Phosphatonins: new hormones that control phosphorus homeostasis. 61
30290433 2008
47
Degradation of MEPE, DMP1, and release of SIBLING ASARM-peptides (minhibins): ASARM-peptide(s) are directly responsible for defective mineralization in HYP. 61
18162525 2008
48
Generation of a conditional null allele for Dmp1 in mouse. 61
18257058 2008
49
Dentin matrix protein 1 (DMP1): new and important roles for biomineralization and phosphate homeostasis. 61
18037646 2007
50
Fibroblast growth factor 23 impairs phosphorus and vitamin D metabolism in vivo and suppresses 25-hydroxyvitamin D-1alpha-hydroxylase expression in vitro. 61
17699549 2007

Variations for Autosomal Recessive Hypophosphatemic Rickets

ClinVar genetic disease variations for Autosomal Recessive Hypophosphatemic Rickets:

6 (show top 50) (show all 246)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DMP1 NM_004407.4(DMP1):c.1A>G (p.Met1Val) SNV Pathogenic 8575 rs104893834 4:88577645-88577645 4:87656493-87656493
2 DMP1 NM_004407.4(DMP1):c.1485_1491del (p.Tyr496fs) Deletion Pathogenic 8576 rs587776698 4:88584414-88584420 4:87663262-87663268
3 DMP1 NM_004407.4(DMP1):c.362del (p.Pro121fs) Deletion Pathogenic 8573 rs587776696 4:88583290-88583290 4:87662138-87662138
4 DMP1 NM_004407.4(DMP1):c.55-1G>C SNV Pathogenic 8574 rs587776697 4:88578183-88578183 4:87657031-87657031
5 ENPP1 NC_000006.11:g.132206904_132212518del Deletion Pathogenic 13593 6:132206904-132212518 6:131885764-131891378
6 ENPP1 NM_006208.3(ENPP1):c.797G>T (p.Gly266Val) SNV Pathogenic 13594 rs121908248 6:132181528-132181528 6:131860388-131860388
7 ENPP1 NM_006208.3(ENPP1):c.2248dup (p.Ser750fs) Duplication Pathogenic 13595 rs587776797 6:132204849-132204850 6:131883709-131883710
8 ENPP1 NM_006208.3(ENPP1):c.2702A>C (p.Tyr901Ser) SNV Pathogenic 13596 rs121908249 6:132211575-132211575 6:131890435-131890435
9 ENPP1 NM_006208.3(ENPP1):c.430+1del Deletion Pathogenic 444060 rs1554278331 6:132171246-132171246 6:131850106-131850106
10 ENPP1 NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp) SNV Pathogenic 547983 rs373044722 6:132194066-132194066 6:131872926-131872926
11 ENPP1 NM_006208.3(ENPP1):c.323G>T (p.Cys108Phe) SNV Likely pathogenic 547984 rs763922486 6:132171139-132171139 6:131849999-131849999
12 ENPP1 NM_006208.3(ENPP1):c.313+15G>T SNV Uncertain significance 903942 6:132169003-132169003 6:131847863-131847863
13 ENPP1 NM_006208.3(ENPP1):c.443C>G (p.Thr148Ser) SNV Uncertain significance 903943 6:132172294-132172294 6:131851154-131851154
14 ENPP1 NM_006208.3(ENPP1):c.1653T>C (p.Tyr551=) SNV Uncertain significance 732180 rs1452598874 6:132196933-132196933 6:131875793-131875793
15 ENPP1 NM_006208.3(ENPP1):c.1724-5T>G SNV Uncertain significance 904011 6:132198127-132198127 6:131876987-131876987
16 ENPP1 NM_006208.3(ENPP1):c.21G>T (p.Ala7=) SNV Uncertain significance 355324 rs886061063 6:132129196-132129196 6:131808056-131808056
17 ENPP1 NM_006208.3(ENPP1):c.2380G>A (p.Val794Ile) SNV Uncertain significance 904076 6:132206139-132206139 6:131884999-131884999
18 ENPP1 NM_006208.3(ENPP1):c.2415A>T (p.Gly805=) SNV Uncertain significance 904077 6:132206174-132206174 6:131885034-131885034
19 ENPP1 NM_006208.3(ENPP1):c.*128C>T SNV Uncertain significance 904142 6:132211779-132211779 6:131890639-131890639
20 ENPP1 NM_006208.3(ENPP1):c.*671T>C SNV Uncertain significance 904198 6:132212322-132212322 6:131891182-131891182
21 ENPP1 NM_006208.3(ENPP1):c.*1105T>C SNV Uncertain significance 904252 6:132212756-132212756 6:131891616-131891616
22 ENPP1 NM_006208.3(ENPP1):c.*1125G>T SNV Uncertain significance 904253 6:132212776-132212776 6:131891636-131891636
23 ENPP1 NM_006208.3(ENPP1):c.*1525T>G SNV Uncertain significance 904322 6:132213176-132213176 6:131892036-131892036
24 ENPP1 NM_006208.3(ENPP1):c.*3885C>T SNV Uncertain significance 904506 6:132215536-132215536 6:131894396-131894396
25 ENPP1 NM_006208.3(ENPP1):c.*3919C>T SNV Uncertain significance 904507 6:132215570-132215570 6:131894430-131894430
26 ENPP1 NM_006208.3(ENPP1):c.*3920G>A SNV Uncertain significance 904508 6:132215571-132215571 6:131894431-131894431
27 ENPP1 NM_006208.3(ENPP1):c.*4014C>A SNV Uncertain significance 904509 6:132215665-132215665 6:131894525-131894525
28 ENPP1 NM_006208.3(ENPP1):c.2444+10T>C SNV Uncertain significance 904854 6:132206213-132206213 6:131885073-131885073
29 ENPP1 NM_006208.3(ENPP1):c.2462G>A (p.Arg821His) SNV Uncertain significance 788102 rs367759638 6:132207719-132207719 6:131886579-131886579
30 ENPP1 NM_006208.3(ENPP1):c.2624C>T (p.Ser875Phe) SNV Uncertain significance 596161 rs140729669 6:132211497-132211497 6:131890357-131890357
31 ENPP1 NM_006208.3(ENPP1):c.*392G>A SNV Uncertain significance 904920 6:132212043-132212043 6:131890903-131890903
32 ENPP1 NM_006208.3(ENPP1):c.*848T>C SNV Uncertain significance 904978 6:132212499-132212499 6:131891359-131891359
33 ENPP1 NM_006208.3(ENPP1):c.*1618A>G SNV Uncertain significance 905122 6:132213269-132213269 6:131892129-131892129
34 ENPP1 NM_006208.3(ENPP1):c.*1716G>A SNV Uncertain significance 905123 6:132213367-132213367 6:131892227-131892227
35 ENPP1 NM_006208.3(ENPP1):c.*2543T>G SNV Uncertain significance 905182 6:132214194-132214194 6:131893054-131893054
36 ENPP1 NM_006208.3(ENPP1):c.*3600G>T SNV Uncertain significance 905237 6:132215251-132215251 6:131894111-131894111
37 ENPP1 NM_006208.3(ENPP1):c.*3602C>T SNV Uncertain significance 905238 6:132215253-132215253 6:131894113-131894113
38 ENPP1 NM_006208.3(ENPP1):c.*4047C>T SNV Uncertain significance 905295 6:132215698-132215698 6:131894558-131894558
39 ENPP1 NM_006208.3(ENPP1):c.*4287G>A SNV Uncertain significance 905297 6:132215938-132215938 6:131894798-131894798
40 ENPP1 NM_006208.3(ENPP1):c.10G>A (p.Asp4Asn) SNV Uncertain significance 905766 6:132129185-132129185 6:131808045-131808045
41 ENPP1 NM_006208.3(ENPP1):c.522C>T (p.Gly174=) SNV Uncertain significance 722482 rs144882196 6:132172373-132172373 6:131851233-131851233
42 ENPP1 NM_006208.3(ENPP1):c.536A>G (p.Asn179Ser) SNV Uncertain significance 905827 6:132172387-132172387 6:131851247-131851247
43 ENPP1 NM_006208.3(ENPP1):c.601C>T (p.Pro201Ser) SNV Uncertain significance 905828 6:132173359-132173359 6:131852219-131852219
44 ENPP1 NM_006208.3(ENPP1):c.614C>A (p.Ala205Glu) SNV Uncertain significance 905829 6:132173372-132173372 6:131852232-131852232
45 ENPP1 NM_006208.3(ENPP1):c.*1239T>C SNV Uncertain significance 906628 6:132212890-132212890 6:131891750-131891750
46 ENPP1 NM_006208.3(ENPP1):c.*1858C>G SNV Uncertain significance 906699 6:132213509-132213509 6:131892369-131892369
47 ENPP1 NM_006208.3(ENPP1):c.*1864T>C SNV Uncertain significance 906700 6:132213515-132213515 6:131892375-131892375
48 ENPP1 NM_006208.3(ENPP1):c.*1940T>G SNV Uncertain significance 906701 6:132213591-132213591 6:131892451-131892451
49 ENPP1 NM_006208.3(ENPP1):c.*2564A>G SNV Uncertain significance 905183 6:132214215-132214215 6:131893075-131893075
50 ENPP1 NM_006208.3(ENPP1):c.*2966C>G SNV Uncertain significance 906786 6:132214617-132214617 6:131893477-131893477

Expression for Autosomal Recessive Hypophosphatemic Rickets

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

Pathways for Autosomal Recessive Hypophosphatemic Rickets

Pathways related to Autosomal Recessive Hypophosphatemic Rickets according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.69 IBSP DSPP DMP1
2 11.13 SOST SLC34A3 PTH KL FGF23 CYP27B1
3 11.09 IBSP DSPP DMP1
4 10.28 PTH IBSP FGF23
5 10.26 PTH CYP27B1

GO Terms for Autosomal Recessive Hypophosphatemic Rickets

Cellular components related to Autosomal Recessive Hypophosphatemic Rickets according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.76 SOST SFRP4 PTH KL IBSP FGF23
2 extracellular region GO:0005576 9.44 STATH SOST SFRP4 PTH MEPE KL
3 endoplasmic reticulum lumen GO:0005788 9.35 MEPE FGF23 FAM20C DMP1 ARSJ

Biological processes related to Autosomal Recessive Hypophosphatemic Rickets according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.9 MEPE FGF23 FAM20C DMP1
2 cellular protein metabolic process GO:0044267 9.87 MEPE FGF23 FAM20C DMP1
3 skeletal system development GO:0001501 9.84 PTH PHEX MEPE DSPP
4 fibroblast growth factor receptor signaling pathway GO:0008543 9.75 KL GALNT3 FGF23
5 bone mineralization GO:0030282 9.73 PHEX IBSP CYP27B1
6 calcium ion homeostasis GO:0055074 9.63 PTH KL CYP27B1
7 phosphate-containing compound metabolic process GO:0006796 9.61 FGF23 ENPP1
8 response to vitamin D GO:0033280 9.61 PTH PHEX CYP27B1
9 cellular response to vitamin D GO:0071305 9.59 PHEX FGF23
10 vitamin D metabolic process GO:0042359 9.58 FGF23 CYP27B1
11 negative regulation of bone mineralization GO:0030502 9.58 STATH FGF23 ENPP1
12 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.55 KL FGF23
13 ossification GO:0001503 9.55 STATH SOST IBSP DSPP DMP1
14 cellular response to parathyroid hormone stimulus GO:0071374 9.54 SOST PHEX FGF23
15 response to sodium phosphate GO:1904383 9.52 PHEX FGF23
16 odontoblast differentiation GO:0071895 9.51 FAM20C DSPP
17 cellular phosphate ion homeostasis GO:0030643 9.5 SLC34A3 FGF23 ENPP1
18 vitamin D catabolic process GO:0042369 9.49 FGF23 CYP27B1
19 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.48 FGF23 CYP27B1
20 phosphate ion homeostasis GO:0055062 9.43 SFRP4 PTH FGF23
21 regulation of bone mineralization GO:0030500 9.26 STATH FGF23 ENPP1 CYP27B1
22 biomineral tissue development GO:0031214 9.23 STATH PHEX MEPE IBSP FAM20C ENPP1

Molecular functions related to Autosomal Recessive Hypophosphatemic Rickets according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor binding GO:0005104 8.62 KL FGF23

Sources for Autosomal Recessive Hypophosphatemic Rickets

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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