ARHR
MCID: ATS239
MIFTS: 45

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 DMP1 (Dentin Matrix Acidic Phosphoprotein 1), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Negative regulation of FGFR3 signaling. 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 87)
# Related Disease Score Top Affiliating Genes
1 arterial calcification of infancy 30.8 SPP1 SLC34A3 PHEX KL GALNT3 FGF23
2 dentinogenesis imperfecta 29.9 SPP1 DSPP DMP1
3 hypophosphatemic rickets, x-linked recessive 29.4 SLC34A3 SFRP4 PHEX MEPE FGF23 ENPP1
4 osteomalacia 27.7 SLC34A3 SFRP4 PTH PHEX MEPE FGF7
5 rickets 27.5 SPP1 SLC34A3 SFRP4 PTH PHEX MEPE
6 hypophosphatemic rickets, x-linked dominant 26.4 SPP1 SLC34A3 SFRP4 PTH PHEX MEPE
7 hypophosphatemia 25.8 SPP1 SLC34A3 SFRP4 PTH PHEX MEPE
8 hypophosphatemic rickets, autosomal recessive, 1 11.3
9 hypophosphatemic rickets, autosomal recessive, 2 10.4
10 opsismodysplasia 10.4 PHEX FGF23
11 arterial calcification, generalized, of infancy, 1 10.3
12 microcephaly and chorioretinopathy 1 10.3 FGF23 FAM20C
13 dentinogenesis imperfecta 1 10.3 DSPP DMP1
14 raine syndrome 10.3 FGF23 FAM20C DMP1
15 osteogenesis imperfecta, type vi 10.3 PHEX MEPE IBSP
16 hypercementosis 10.3 ENPP1 DSPP
17 osteoblastoma 10.2 SLC34A3 MEPE FGF23
18 hypophosphatasia, adult 10.2 PTH ENPP1
19 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
20 gorham's disease 10.2 PTH GALNT3
21 hypophosphatasia, childhood 10.2 PTH IBSP ENPP1
22 tracheal calcification 10.2 PTH KL FGF23
23 vitamin d-dependent rickets, type 2a 10.1 PHEX CYP27B1
24 dental pulp calcification 10.1 KL GALNT3 DSPP
25 angioid streaks 10.1 GALNT3 ENPP1
26 osteitis fibrosa 10.1 PTH FGF23
27 tooth erosion 10.1 STATH DSPP
28 dentin caries 10.1 STATH MEPE DSPP
29 pulmonary alveolar microlithiasis 10.1 SLC34A3 MEPE GALNT3 FGF23
30 blount's disease 10.1 SLC34A3 FGF23 EMP1
31 familial tumoral calcinosis 10.1 PHEX KL GALNT3 FGF23
32 dental pulp necrosis 10.1 MEPE IBSP DSPP DMP1
33 skin atrophy 10.0 KL FGF23 CYP27B1
34 root caries 10.0 STATH DSPP
35 ankylosis 10.0 IBSP FGFR1 ENPP1
36 hyperlipoproteinemia, type v 10.0 KL FGF23
37 dental caries 10.0 STATH IBSP DSPP
38 teeth hard tissue disease 10.0 STATH FAM20C DSPP
39 nephrolithiasis/osteoporosis, hypophosphatemic, 1 10.0 SLC34A3 PTH KL FGF23
40 hypocalcemia, autosomal dominant 1 10.0 PTH FGF23 CYP27B1
41 bone development disease 9.9 PTH IBSP FGFR1
42 conjunctival deposit 9.8 KL GALNT3 FGF23 EMP1
43 bone benign neoplasm 9.8 PTH FGF23
44 primary hyperparathyroidism 9.8 PTH KL FGF23 CYP27B1
45 fibrous dysplasia 9.8 SPP1 IBSP FGF23
46 calciphylaxis 9.7 SPP1 PTH FGF23
47 dental pulp disease 9.7 SPP1 IBSP DSPP
48 root resorption 9.7 SPP1 DSPP DMP1
49 tooth resorption 9.7 SPP1 IBSP DSPP
50 lacrimoauriculodentodigital syndrome 9.7 FGFR1 FGF7 FGF23

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 GR00221-A-1 9.58 FGFR1
2 Decreased viability GR00221-A-2 9.58 FGFR1
3 Decreased viability GR00240-S-1 9.58 DSPP SLC34A3
4 Decreased viability GR00249-S 9.58 ENPP1 FGF7 SPP1
5 Decreased viability GR00381-A-1 9.58 DSPP FAM20C SLC34A3
6 Decreased viability GR00386-A-1 9.58 FAM20C FGF7 FGFR1 IBSP KL SLC34A3
7 Decreased viability GR00402-S-2 9.58 DSPP ENPP1

MGI Mouse Phenotypes related to Autosomal Recessive Hypophosphatemic Rickets:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.33 CYP27B1 DMP1 ENPP1 FAM20C FGF23 FGF7
2 hematopoietic system MP:0005397 10.31 CYP27B1 DMP1 EMP1 FAM20C FGF23 FGF7
3 craniofacial MP:0005382 10.25 CYP27B1 DMP1 ENPP1 FAM20C FGFR1 GALNT3
4 immune system MP:0005387 10.24 CYP27B1 DMP1 ENPP1 FAM20C FGF23 FGF7
5 cardiovascular system MP:0005385 10.22 DMP1 ENPP1 FGF23 FGFR1 GALNT3 KL
6 homeostasis/metabolism MP:0005376 10.22 CYP27B1 DMP1 ENPP1 FAM20C FGF23 FGF7
7 digestive/alimentary MP:0005381 10.15 FAM20C FGF23 FGFR1 GALNT3 IBSP KL
8 endocrine/exocrine gland MP:0005379 10.13 CYP27B1 DMP1 FAM20C FGF23 FGFR1 GALNT3
9 limbs/digits/tail MP:0005371 10.03 CYP27B1 DMP1 ENPP1 FAM20C FGF23 FGFR1
10 renal/urinary system MP:0005367 9.97 CYP27B1 DMP1 ENPP1 FAM20C FGF23 FGF7
11 integument MP:0010771 9.92 CYP27B1 ENPP1 FGF23 FGF7 FGFR1 GALNT3
12 reproductive system MP:0005389 9.65 CYP27B1 DMP1 FAM20C FGF23 FGF7 FGFR1
13 skeleton MP:0005390 9.53 CYP27B1 DMP1 ENPP1 FAM20C FGF23 FGF7

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) Recruiting NCT03758534
2 A Natural History Study of Patients With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Recruiting 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 all 50)
# Title Authors PMID Year
1
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. 61 6
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. 61 6
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 2020
7
Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approach to Management. 61
32172442 2020
8
Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations. 61
31826312 2020
9
Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency. 61
31805212 2020
10
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
11
FGF23 and Associated Disorders of Phosphate Wasting. 61
31599133 2019
12
A Mutation in the Dmp1 Gene Alters Phosphate Responsiveness in Mice. 61
28005411 2017
13
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
14
Transgenic expression of Dspp partially rescued the long bone defects of Dmp1-null mice. 61
26686820 2016
15
Skeletal Muscle, but not Cardiovascular Function, Is Altered in a Mouse Model of Autosomal Recessive Hypophosphatemic Rickets. 61
27242547 2016
16
Atraumatic diplaced bilateral femoral neck fracture in a patient with hypophosphatemic rickets in postpartum period: A missed diagnosis. 61
27771603 2016
17
Hypophosphatemic rickets developed after treatment with etidronate disodium in a patient with generalized arterial calcification in infancy. 61
28377967 2015
18
Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1. 61
25741938 2015
19
Hypophosphatemic rickets: lessons from disrupted FGF23 control of phosphorus homeostasis. 61
25620749 2015
20
Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar. 61
24102521 2014
21
Hearing loss is part of the clinical picture of ENPP1 loss of function mutation. 61
24216977 2014
22
[Updates on rickets and osteomalacia: FGF23-mediated hypophosphatemic rickets/osteomalacia]. 61
24076640 2013
23
Osteocyte regulation of phosphate homeostasis and bone mineralization underlies the pathophysiology of the heritable disorders of rickets and osteomalacia. 61
23403405 2013
24
Pharmacological inhibition of fibroblast growth factor (FGF) receptor signaling ameliorates FGF23-mediated hypophosphatemic rickets. 61
23129509 2013
25
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
26
Hypophosphatemic rickets. 61
23108197 2012
27
Amelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null mice. 61
22732358 2012
28
Mutational analysis of patients with FGF23-related hypophosphatemic rickets. 61
22577109 2012
29
The chicken or the egg: PHEX, FGF23 and SIBLINGs unscrambled. 61
22573484 2012
30
[Osteocyte and DMP1]. 61
22549196 2012
31
Regulation of bone-renal mineral and energy metabolism: the PHEX, FGF23, DMP1, MEPE ASARM pathway. 61
22339660 2012
32
A patient with hypophosphatemic rickets and ossification of posterior longitudinal ligament caused by a novel homozygous mutation in ENPP1 gene. 61
21745613 2011
33
ASARM peptides: PHEX-dependent and -independent regulation of serum phosphate. 61
21177780 2011
34
Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets. 61
21050253 2011
35
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
36
DMP1 C-terminal mutant mice recapture the human ARHR tooth phenotype. 61
20499360 2010
37
A novel nonsense mutation in the DMP1 gene in a Japanese family with autosomal recessive hypophosphatemic rickets. 61
20213538 2010
38
Hypophosphatemia induced by intravenous administration of saccharated ferric oxide: another form of FGF23-related hypophosphatemia. 61
19555782 2009
39
A familial disorder with low bone density and renal phosphate wasting. 61
19712854 2009
40
Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets. 61
19007919 2009
41
Studies of the DMP1 57-kDa functional domain both in vivo and in vitro. 61
18728349 2009
42
Pathogenic role of Fgf23 in Dmp1-null mice. 61
18559986 2008
43
Phosphatonins: new hormones that control phosphorus homeostasis. 61
30290433 2008
44
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
45
Generation of a conditional null allele for Dmp1 in mouse. 61
18257058 2008
46
Dentin matrix protein 1 (DMP1): new and important roles for biomineralization and phosphate homeostasis. 61
18037646 2007
47
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
48
The role of DMP1 in autosomal recessive hypophosphatemic rickets. 61
18094488 2007
49
Emerging role of fibroblast growth factor 23 in a bone-kidney axis regulating systemic phosphate homeostasis and extracellular matrix mineralization. 61
17565275 2007
50
[Fibroblast growth factor (FGF) 23 works as a phosphate-regulating hormone and is involved in the pathogenesis of several disorders of phosphate metabolism]. 61
17657990 2007

Variations for Autosomal Recessive Hypophosphatemic Rickets

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:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 SPP1 IBSP FGFR1 FGF7 FGF23
2
Show member pathways
12.23 KL GALNT3 FGFR1 FGF7 FGF23
3
Show member pathways
12.21 KL FGFR1 FGF7 FGF23
4
Show member pathways
11.94 KL GALNT3 FGFR1 FGF7 FGF23
5
Show member pathways
11.9 SPP1 IBSP DSPP DMP1
6 11.41 IBSP DSPP DMP1
7 11.3 SPP1 FGFR1 FGF23
8 11.26 SPP1 PTH CYP27B1
9 11.14 SPP1 PTH IBSP
10 11.13 SLC34A3 PTH KL FGFR1 FGF23 CYP27B1
11 11.07 SPP1 PTH FGFR1 ENPP1
12 10.83 SPP1 MEPE FGFR1 FGF7 FGF23
13 10.49 PTH CYP27B1
14 10.48 PTH IBSP FGF23

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 SPP1 SFRP4 PTH KL IBSP FGF23
2 extracellular region GO:0005576 9.47 STATH SPP1 SFRP4 PTH MEPE KL
3 endoplasmic reticulum lumen GO:0005788 9.35 SPP1 MEPE FGF23 FAM20C DMP1

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.98 SPP1 MEPE FGF23 FAM20C DMP1
2 MAPK cascade GO:0000165 9.94 KL FGFR1 FGF7 FGF23
3 extracellular matrix organization GO:0030198 9.93 SPP1 IBSP DSPP DMP1
4 positive regulation of protein kinase B signaling GO:0051897 9.91 KL FGFR1 FGF7 FGF23
5 cellular protein metabolic process GO:0044267 9.89 SPP1 MEPE FGF23 FAM20C DMP1
6 ossification GO:0001503 9.83 STATH SPP1 IBSP DSPP DMP1
7 bone mineralization GO:0030282 9.78 PHEX IBSP CYP27B1
8 positive regulation of bone mineralization GO:0030501 9.75 PTH KL FAM20C
9 fibroblast growth factor receptor signaling pathway GO:0008543 9.72 KL GALNT3 FGFR1 FGF7 FGF23
10 calcium ion homeostasis GO:0055074 9.7 PTH KL CYP27B1
11 phosphate-containing compound metabolic process GO:0006796 9.65 FGF23 ENPP1
12 cellular response to vitamin D GO:0071305 9.65 PHEX FGF23
13 negative regulation of bone mineralization GO:0030502 9.65 STATH FGF23 ENPP1
14 vitamin D metabolic process GO:0042359 9.64 FGF23 CYP27B1
15 branching involved in salivary gland morphogenesis GO:0060445 9.63 FGFR1 FGF7
16 cellular phosphate ion homeostasis GO:0030643 9.63 SLC34A3 FGF23 ENPP1
17 skeletal system development GO:0001501 9.63 PTH PHEX MEPE FGFR1 FAM20C DSPP
18 cellular response to parathyroid hormone stimulus GO:0071374 9.62 PHEX FGF23
19 dentinogenesis GO:0097187 9.62 FAM20C DSPP
20 odontoblast differentiation GO:0071895 9.6 FAM20C DSPP
21 regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling GO:0060665 9.59 FGFR1 FGF7
22 phosphate ion homeostasis GO:0055062 9.58 SFRP4 PTH FGF23
23 response to sodium phosphate GO:1904383 9.57 PHEX FGF23
24 vitamin D catabolic process GO:0042369 9.56 FGF23 CYP27B1
25 regulation of bone mineralization GO:0030500 9.56 STATH FGF23 ENPP1 CYP27B1
26 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.55 FGF23 CYP27B1
27 regulation of phosphate transport GO:0010966 9.54 FGFR1 FGF23
28 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.54 KL FGFR1 FGF23
29 regulation of phosphorus metabolic process GO:0051174 9.51 FGFR1 FAM20C
30 biomineral tissue development GO:0031214 9.28 STATH SPP1 PHEX MEPE IBSP FAM20C
31 response to vitamin D GO:0033280 9.26 SPP1 PTH PHEX CYP27B1

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.55 GALNT3 FAM20C ENPP1 DSPP DMP1
2 fibroblast growth factor binding GO:0017134 8.96 KL FGFR1
3 fibroblast growth factor receptor binding GO:0005104 8.8 KL FGF7 FGF23

Sources for Autosomal Recessive Hypophosphatemic Rickets

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