ARHR
MCID: ATS239
MIFTS: 41

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 59 37 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 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 Signaling by activated point mutants of FGFR3 and ECM proteoglycans. 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 skeletal dysplasia and malabsorption

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 32)
# Related Disease Score Top Affiliating Genes
1 rickets 30.7 DMP1 ENPP1 FGF23 PHEX
2 hypophosphatemic rickets, x-linked recessive 30.7 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 10.1 DMP1 FGF23
7 opsismodysplasia 10.1 FGF23 PHEX
8 hypophosphatasia 10.1 ENPP1 PHEX
9 dentin dysplasia, type ii 10.0 DMP1 IBSP
10 hypervitaminosis d 10.0 FGF23 GALNT3
11 tumoral calcinosis, hyperphosphatemic, familial, 1 10.0 FGF23 GALNT3
12 bone remodeling disease 10.0 FGF23 PHEX
13 mccune-albright syndrome 10.0 FGF23 IBSP
14 fibrous dysplasia 10.0 FGF23 IBSP
15 lacrimoauriculodentodigital syndrome 10.0 FGF23 GALNT3
16 enthesopathy 10.0 DMP1 FGF23 PHEX
17 oncogenic osteomalacia 10.0 DMP1 FGF23 PHEX
18 hyperostosis 10.0 FGF23 GALNT3
19 osteomalacia 10.0 DMP1 FGF23 PHEX
20 hypophosphatemic rickets, x-linked dominant 10.0 DMP1 FGF23 PHEX
21 pseudoxanthoma elasticum 9.9 ENPP1 IBSP
22 familial tumoral calcinosis 9.9 FGF23 GALNT3 PHEX
23 hypophosphatemic rickets, autosomal dominant 9.9 FGF23 GALNT3 PHEX
24 mineral metabolism disease 9.9 FGF23 GALNT3 PHEX
25 hyperphosphatemia 9.9 FGF23 GALNT3 PHEX
26 hyperparathyroidism 9.9 FGF23 PHEX
27 hypophosphatemia 9.8 DMP1 ENPP1 FGF23 PHEX
28 calcinosis 9.8 ENPP1 FGF23 GALNT3 PHEX
29 phosphorus metabolism disease 9.8 DMP1 FGF23 GALNT3 PHEX
30 glycogen storage disease ix 9.7 NSUN2 PHEX PHKG2
31 glycogen storage disease ixc 9.7 NSUN2 PHEX PHKG2
32 hypophosphatemic rickets with hypercalciuria, hereditary 9.7 DMP1 ENPP1 FGF23 GALNT3 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 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
2 malabsorption 59 32 frequent (33%) Frequent (79-30%) HP:0002024
3 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
4 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
5 delayed eruption of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000684
6 genu varum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002970
7 osteomalacia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002749
8 spinal canal stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0003416
9 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
10 increased bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0011001
11 craniosynostosis 59 32 frequent (33%) Frequent (79-30%) HP:0001363
12 lower limb asymmetry 59 32 hallmark (90%) Very frequent (99-80%) HP:0100559
13 coxa vara 59 32 hallmark (90%) Very frequent (99-80%) HP:0002812
14 abnormality of the sacroiliac joint 59 32 frequent (33%) Frequent (79-30%) HP:0100781
15 tibial bowing 59 32 frequent (33%) Frequent (79-30%) HP:0002982
16 hypophosphatemic rickets 59 32 obligate (100%) Obligate (100%) HP:0004912
17 abnormal trabecular bone morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0100671
18 sclerotic vertebral endplates 59 32 hallmark (90%) Very frequent (99-80%) HP:0004576
19 rickets of the lower limbs 59 32 hallmark (90%) Very frequent (99-80%) HP:0006463
20 renal phosphate wasting 59 32 hallmark (90%) Very frequent (99-80%) HP:0000117
21 enlargement of the wrists 59 32 hallmark (90%) Very frequent (99-80%) HP:0003020
22 hyperphosphaturia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003109
23 renal hypophosphatemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008732
24 distal femoral bowing 59 32 hallmark (90%) Very frequent (99-80%) HP:0005096
25 polyarticular arthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005764
26 elevated alkaline phosphatase of bone origin 59 32 hallmark (90%) Very frequent (99-80%) HP:0010639
27 abnormality of renal excretion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011036
28 low serum calcitriol 59 32 hallmark (90%) Very frequent (99-80%) HP:0012052
29 tooth abscess 59 32 frequent (33%) Frequent (79-30%) HP:0030757
30 pseudo-fractures 59 32 frequent (33%) Frequent (79-30%) HP:0100036
31 enthesitis 59 32 frequent (33%) Frequent (79-30%) HP:0100686
32 seizures 59 Excluded (0%)
33 muscle weakness 59 Excluded (0%)
34 growth delay 59 Very frequent (99-80%)
35 abnormality of the lower limb 59 Very frequent (99-80%)
36 abnormality of vitamin d metabolism 59 Very frequent (99-80%)
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 cardiovascular system MP:0005385 9.93 DMP1 ENPP1 FGF23 GALNT3 NSUN2 PHEX
2 growth/size/body region MP:0005378 9.91 DMP1 ENPP1 FGF23 GALNT3 IBSP NSUN2
3 hematopoietic system MP:0005397 9.87 DMP1 FGF23 GALNT3 IBSP NSUN2 PHEX
4 craniofacial MP:0005382 9.83 DMP1 GALNT3 IBSP NSUN2 PHEX
5 digestive/alimentary MP:0005381 9.8 FGF23 GALNT3 IBSP NSUN2 PHEX
6 immune system MP:0005387 9.8 DMP1 ENPP1 FGF23 GALNT3 IBSP NSUN2
7 limbs/digits/tail MP:0005371 9.7 DMP1 ENPP1 FGF23 GALNT3 IBSP NSUN2
8 renal/urinary system MP:0005367 9.35 DMP1 ENPP1 FGF23 GALNT3 PHEX
9 skeleton MP:0005390 9.17 DMP1 ENPP1 FGF23 GALNT3 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 11128-99-7, 68521-88-0, 4474-91-3 172198 65143
2 Angiotensin I (1-7)
3 Vasodilator Agents
4 Antihypertensive Agents
5 Angiotensinogen

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) 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
Show member pathways
10.92 FGF23 GALNT3
2 10.71 DMP1 IBSP
3 9.77 FGF23 IBSP

GO Terms for Autosomal Recessive Hypophosphatemic Rickets

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

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor signaling pathway GO:0008543 9.48 FGF23 GALNT3
2 generation of precursor metabolites and energy GO:0006091 9.46 ENPP1 PHKG2
3 bone mineralization GO:0030282 9.43 IBSP PHEX
4 regulation of bone mineralization GO:0030500 9.4 ENPP1 FGF23
5 phosphate-containing compound metabolic process GO:0006796 9.37 ENPP1 FGF23
6 cellular response to vitamin D GO:0071305 9.32 FGF23 PHEX
7 cellular response to parathyroid hormone stimulus GO:0071374 9.26 FGF23 PHEX
8 cellular phosphate ion homeostasis GO:0030643 9.16 ENPP1 FGF23
9 response to sodium phosphate GO:1904383 8.96 FGF23 PHEX
10 biomineral tissue development GO:0031214 8.92 DMP1 ENPP1 IBSP 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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