MCID: ATS239
MIFTS: 41

Autosomal Recessive Hypophosphatemic Rickets

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

Aliases & Classifications for Autosomal Recessive Hypophosphatemic Rickets

MalaCards integrated aliases for Autosomal Recessive Hypophosphatemic Rickets:

Name: Autosomal Recessive Hypophosphatemic Rickets 12 59 15
Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets 73
Arhr 59

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive hypophosphatemic rickets
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:



Summaries for Autosomal Recessive Hypophosphatemic Rickets

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.

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 hypophosphatemic rickets, x-linked recessive. An important gene associated with Autosomal Recessive Hypophosphatemic Rickets is ENPP1 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 1), and among its related pathways/superpathways are ECM proteoglycans and Osteoblast Signaling. Affiliated tissues include bone and skeletal muscle, and related phenotypes are hypophosphatemic rickets and renal phosphate wasting

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 all 29)
# Related Disease Score Top Affiliating Genes
1 arterial calcification of infancy 30.0 ENPP1 FGF23 PHEX
2 hypophosphatemic rickets, x-linked recessive 30.0 DMP1 ENPP1 FGF23 PHEX
3 rickets 30.0 DMP1 ENPP1 FGF23 PHEX
4 hypophosphatemic rickets, autosomal recessive, 1 10.9
5 raine syndrome 10.4 DMP1 FGF23
6 opsismodysplasia 10.3 FGF23 PHEX
7 familial tumoral calcinosis 10.3 FGF23 PHEX
8 hypophosphatemic rickets, autosomal dominant 10.3 FGF23 PHEX
9 hypophosphatasia 10.3 ENPP1 PHEX
10 hypercementosis 10.2 ENPP1 FAM20A
11 dentin dysplasia, type ii 10.2 DMP1 IBSP
12 mineral metabolism disease 10.2 FGF23 PHEX
13 dentin dysplasia 10.1 DMP1 IBSP
14 mccune-albright syndrome 10.1 FGF23 IBSP
15 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
16 hyperphosphatemia 10.0 FGF23 PHEX
17 fibrous dysplasia 10.0 FGF23 IBSP
18 osteogenesis imperfecta, type vi 10.0 IBSP PHEX
19 bone remodeling disease 10.0 FGF23 PHEX
20 calcinosis 9.9 ENPP1 FGF23 PHEX
21 enthesopathy 9.9 DMP1 FGF23 PHEX
22 oncogenic osteomalacia 9.9 DMP1 FGF23 PHEX
23 hypophosphatemic rickets, x-linked dominant 9.9 DMP1 FGF23 PHEX
24 phosphorus metabolism disease 9.9 DMP1 FGF23 PHEX
25 osteomalacia 9.9 DMP1 FGF23 PHEX
26 pseudoxanthoma elasticum 9.8 ENPP1 IBSP
27 hyperparathyroidism 9.6 FGF23 PHEX
28 hypophosphatemic rickets with hypercalciuria, hereditary 9.5 DMP1 ENPP1 FGF23 PHEX
29 hypophosphatemia 9.5 DMP1 ENPP1 FGF23 PHEX

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:

59 32 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypophosphatemic rickets 59 32 obligate (100%) Obligate (100%) HP:0004912
2 renal phosphate wasting 59 32 hallmark (90%) Very frequent (99-80%) HP:0000117
3 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
4 delayed eruption of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000684
5 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
6 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
7 osteomalacia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002749
8 coxa vara 59 32 hallmark (90%) Very frequent (99-80%) HP:0002812
9 genu varum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002970
10 enlargement of the wrists 59 32 hallmark (90%) Very frequent (99-80%) HP:0003020
11 hyperphosphaturia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003109
12 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
13 sclerotic vertebral endplates 59 32 hallmark (90%) Very frequent (99-80%) HP:0004576
14 distal femoral bowing 59 32 hallmark (90%) Very frequent (99-80%) HP:0005096
15 polyarticular arthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005764
16 rickets of the lower limbs 59 32 hallmark (90%) Very frequent (99-80%) HP:0006463
17 renal hypophosphatemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008732
18 elevated alkaline phosphatase of bone origin 59 32 hallmark (90%) Very frequent (99-80%) HP:0010639
19 increased bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0011001
20 abnormality of renal excretion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011036
21 low serum calcitriol 59 32 hallmark (90%) Very frequent (99-80%) HP:0012052
22 lower limb asymmetry 59 32 hallmark (90%) Very frequent (99-80%) HP:0100559
23 abnormal trabecular bone morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0100671
24 craniosynostosis 59 32 frequent (33%) Frequent (79-30%) HP:0001363
25 malabsorption 59 32 frequent (33%) Frequent (79-30%) HP:0002024
26 tibial bowing 59 32 frequent (33%) Frequent (79-30%) HP:0002982
27 spinal canal stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0003416
28 tooth abscess 59 32 frequent (33%) Frequent (79-30%) HP:0030757
29 pseudo-fractures 59 32 frequent (33%) Frequent (79-30%) HP:0100036
30 enthesitis 59 32 frequent (33%) Frequent (79-30%) HP:0100686
31 abnormality of the sacroiliac joint 59 32 frequent (33%) Frequent (79-30%) HP:0100781
32 growth delay 59 Very frequent (99-80%)
33 abnormality of the lower limb 59 Very frequent (99-80%)
34 abnormality of vitamin d metabolism 59 Very frequent (99-80%)
35 seizures 59 Excluded (0%)
36 muscle weakness 59 Excluded (0%)
37 hypocalcemic tetany 59 Excluded (0%)

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 9.91 DMP1 ENPP1 FAM20A FGF23 IBSP NSUN2
2 craniofacial MP:0005382 9.8 DMP1 FAM20A IBSP NSUN2 PHEX
3 hematopoietic system MP:0005397 9.8 DMP1 FGF23 IBSP NSUN2 PHEX PHKG2
4 immune system MP:0005387 9.73 FGF23 IBSP NSUN2 PHEX DMP1 ENPP1
5 limbs/digits/tail MP:0005371 9.63 DMP1 FAM20A FGF23 IBSP NSUN2 PHEX
6 renal/urinary system MP:0005367 9.35 DMP1 ENPP1 FAM20A FGF23 PHEX
7 skeleton MP:0005390 9.17 IBSP NSUN2 PHEX DMP1 ENPP1 FAM20A

Drugs & Therapeutics for Autosomal Recessive Hypophosphatemic Rickets

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 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:

41
Bone, Skeletal Muscle

Publications for Autosomal Recessive Hypophosphatemic Rickets

Articles related to Autosomal Recessive Hypophosphatemic Rickets:

# Title Authors Year
1
Skeletal Muscle, but not Cardiovascular Function, Is Altered in a Mouse Model of Autosomal Recessive Hypophosphatemic Rickets. ( 27242547 )
2016
2
Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1. ( 25741938 )
2015
3
Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. ( 20137772 )
2010
4
A novel nonsense mutation in the DMP1 gene in a Japanese family with autosomal recessive hypophosphatemic rickets. ( 20213538 )
2010
5
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. ( 20137773 )
2010
6
Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets. ( 19007919 )
2009
7
The role of DMP1 in autosomal recessive hypophosphatemic rickets. ( 18094488 )
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:

# Super pathways Score Top Affiliating Genes
1 10.71 DMP1 IBSP
2 9.77 FGF23 IBSP

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 region GO:0005576 9.02 DMP1 ENPP1 FAM20A FGF23 IBSP

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

# Name GO ID Score Top Affiliating Genes
1 generation of precursor metabolites and energy GO:0006091 9.46 ENPP1 PHKG2
2 bone mineralization GO:0030282 9.43 IBSP PHEX
3 phosphate-containing compound metabolic process GO:0006796 9.4 ENPP1 FGF23
4 regulation of bone mineralization GO:0030500 9.37 ENPP1 FGF23
5 cellular response to vitamin D GO:0071305 9.32 FGF23 PHEX
6 cellular response to parathyroid hormone stimulus GO:0071374 9.26 FGF23 PHEX
7 cellular phosphate ion homeostasis GO:0030643 9.16 ENPP1 FGF23
8 biomineral tissue development GO:0031214 9.02 DMP1 ENPP1 FAM20A IBSP PHEX
9 response to sodium phosphate GO:1904383 8.96 FGF23 PHEX

Sources for Autosomal Recessive Hypophosphatemic Rickets

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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