ARHR
MCID: ATS239
MIFTS: 43

Autosomal Recessive Hypophosphatemic Rickets (ARHR)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic 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 60 38 15
Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets 74
Arhr 60

Characteristics:

Orphanet epidemiological data:

60
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 rickets 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. The drugs Angiotensin II and Angiotensin I (1-7) have been mentioned in the context of this disorder. Affiliated tissues include bone and skeletal muscle, and related phenotypes are hypophosphatemic rickets and skeletal dysplasia

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 rickets 30.6 DMP1 ENPP1 FGF23 PHEX
2 hypophosphatemic rickets, x-linked recessive 30.6 DMP1 ENPP1 FGF23 PHEX
3 arterial calcification of infancy 30.3 ENPP1 FGF23 PHEX
4 hypophosphatemic rickets, autosomal recessive, 1 11.1
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
6 raine syndrome 10.2 DMP1 FGF23
7 opsismodysplasia 10.1 FGF23 PHEX
8 familial tumoral calcinosis 10.1 FGF23 PHEX
9 hypophosphatemic rickets, autosomal dominant 10.1 FGF23 PHEX
10 hypophosphatasia 10.1 ENPP1 PHEX
11 dentin dysplasia, type ii 10.1 DMP1 IBSP
12 hypercementosis 10.1 ENPP1 FAM20A
13 mineral metabolism disease 10.1 FGF23 PHEX
14 mccune-albright syndrome 10.0 FGF23 IBSP
15 hyperphosphatemia 10.0 FGF23 PHEX
16 fibrous dysplasia 10.0 FGF23 IBSP
17 bone remodeling disease 10.0 FGF23 PHEX
18 calcinosis 9.9 ENPP1 FGF23 PHEX
19 enthesopathy 9.9 DMP1 FGF23 PHEX
20 oncogenic osteomalacia 9.9 DMP1 FGF23 PHEX
21 osteomalacia 9.9 DMP1 FGF23 PHEX
22 hypophosphatemic rickets, x-linked dominant 9.9 DMP1 FGF23 PHEX
23 phosphorus metabolism disease 9.9 DMP1 FGF23 PHEX
24 pseudoxanthoma elasticum 9.9 ENPP1 IBSP
25 hyperparathyroidism 9.8 FGF23 PHEX
26 hypophosphatemic rickets with hypercalciuria, hereditary 9.7 DMP1 ENPP1 FGF23 PHEX
27 hypophosphatemia 9.7 DMP1 ENPP1 FGF23 PHEX
28 glycogen storage disease ixc 9.6 NSUN2 PHEX PHKG2
29 glycogen storage disease ix 9.6 NSUN2 PHEX PHKG2

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:

60 33 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypophosphatemic rickets 60 33 obligate (100%) Obligate (100%) HP:0004912
2 skeletal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002652
3 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
4 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
5 delayed eruption of teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000684
6 genu varum 60 33 hallmark (90%) Very frequent (99-80%) HP:0002970
7 osteomalacia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002749
8 bone pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0002653
9 increased bone mineral density 60 33 hallmark (90%) Very frequent (99-80%) HP:0011001
10 lower limb asymmetry 60 33 hallmark (90%) Very frequent (99-80%) HP:0100559
11 coxa vara 60 33 hallmark (90%) Very frequent (99-80%) HP:0002812
12 abnormal trabecular bone morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0100671
13 sclerotic vertebral endplates 60 33 hallmark (90%) Very frequent (99-80%) HP:0004576
14 rickets of the lower limbs 60 33 hallmark (90%) Very frequent (99-80%) HP:0006463
15 renal phosphate wasting 60 33 hallmark (90%) Very frequent (99-80%) HP:0000117
16 enlargement of the wrists 60 33 hallmark (90%) Very frequent (99-80%) HP:0003020
17 hyperphosphaturia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003109
18 renal hypophosphatemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008732
19 distal femoral bowing 60 33 hallmark (90%) Very frequent (99-80%) HP:0005096
20 polyarticular arthritis 60 33 hallmark (90%) Very frequent (99-80%) HP:0005764
21 elevated alkaline phosphatase of bone origin 60 33 hallmark (90%) Very frequent (99-80%) HP:0010639
22 abnormality of renal excretion 60 33 hallmark (90%) Very frequent (99-80%) HP:0011036
23 low serum calcitriol 60 33 hallmark (90%) Very frequent (99-80%) HP:0012052
24 malabsorption 60 33 frequent (33%) Frequent (79-30%) HP:0002024
25 spinal canal stenosis 60 33 frequent (33%) Frequent (79-30%) HP:0003416
26 craniosynostosis 60 33 frequent (33%) Frequent (79-30%) HP:0001363
27 abnormality of the sacroiliac joint 60 33 frequent (33%) Frequent (79-30%) HP:0100781
28 tibial bowing 60 33 frequent (33%) Frequent (79-30%) HP:0002982
29 tooth abscess 60 33 frequent (33%) Frequent (79-30%) HP:0030757
30 pseudo-fractures 60 33 frequent (33%) Frequent (79-30%) HP:0100036
31 enthesitis 60 33 frequent (33%) Frequent (79-30%) HP:0100686
32 seizures 60 Excluded (0%)
33 muscle weakness 60 Excluded (0%)
34 growth delay 60 Very frequent (99-80%)
35 abnormality of the lower limb 60 Very frequent (99-80%)
36 abnormality of vitamin d metabolism 60 Very frequent (99-80%)
37 hypocalcemic tetany 60 Excluded (0%)

MGI Mouse Phenotypes related to Autosomal Recessive Hypophosphatemic Rickets:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 DMP1 ENPP1 FAM20A FGF23 NSUN2 PHEX
2 growth/size/body region MP:0005378 9.91 DMP1 ENPP1 FAM20A FGF23 IBSP NSUN2
3 craniofacial MP:0005382 9.8 DMP1 FAM20A IBSP NSUN2 PHEX
4 hematopoietic system MP:0005397 9.8 DMP1 FGF23 IBSP NSUN2 PHEX PHKG2
5 immune system MP:0005387 9.73 DMP1 ENPP1 FGF23 IBSP NSUN2 PHEX
6 limbs/digits/tail MP:0005371 9.7 DMP1 ENPP1 FAM20A FGF23 IBSP NSUN2
7 renal/urinary system MP:0005367 9.35 DMP1 ENPP1 FAM20A FGF23 PHEX
8 skeleton MP:0005390 9.17 DMP1 ENPP1 FAM20A FGF23 IBSP NSUN2

Drugs & Therapeutics for Autosomal Recessive Hypophosphatemic Rickets

Drugs for Autosomal Recessive Hypophosphatemic Rickets (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational 68521-88-0, 11128-99-7, 4474-91-3 172198 65143
2 Angiotensin I (1-7)
3 Angiotensinogen
4 Antihypertensive Agents
5 Vasodilator Agents

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 Natural History of GACI With or Without ARHR2 or PXE Recruiting NCT03758534
3 FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP) 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:

42
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 regulation of bone mineralization GO:0030500 9.4 ENPP1 FGF23
4 phosphate-containing compound metabolic process GO:0006796 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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