MCID: HYP260
MIFTS: 40

Hypophosphatemic Rickets, Autosomal Dominant malady

Genetic diseases, Nephrological diseases, Bone diseases, Endocrine diseases, Fetal diseases, Rare diseases categories

Aliases & Classifications for Hypophosphatemic Rickets, Autosomal Dominant

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Sources:
45OMIM, 10diseasecard, 20GeneTests, 43Novoseek, 47Orphanet, 22GTR, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Hypophosphatemic Rickets, Autosomal Dominant, Aliases & Descriptions:

Name: Hypophosphatemic Rickets, Autosomal Dominant 45 10 20 43
Autosomal Dominant Hypophosphatemic Rickets 47 22
 
Autosomal Dominant Hypophosphatemia 47
Adhr 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
autosomal dominant hypophosphatemic rickets:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy


External Ids:

OMIM45 193100
Orphanet47 89937
ICD10 via Orphanet26 E83.3
UMLS via Orphanet61 C0342642

Summaries for Hypophosphatemic Rickets, Autosomal Dominant

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OMIM:45 Autosomal dominant hypophosphatemic rickets is characterized by isolated renal phosphate wasting, hypophosphatemia, and... (193100) more...

MalaCards based summary: Hypophosphatemic Rickets, Autosomal Dominant, also known as autosomal dominant hypophosphatemic rickets, is related to rickets and hypophosphatemia, and has symptoms including muscle weakness, hypophosphatemia and bone pain. An important gene associated with Hypophosphatemic Rickets, Autosomal Dominant is FGF23 (fibroblast growth factor 23), and among its related pathways is Phospholipase-C Pathway. The compounds phosphorus and 1,25 dihydroxy vitamin d3 have been mentioned in the context of this disorder. Affiliated tissues include bone and heart, and related mouse phenotypes are immune system and skeleton.

Related Diseases for Hypophosphatemic Rickets, Autosomal Dominant

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Graphical network of diseases related to Hypophosphatemic Rickets, Autosomal Dominant:



Diseases related to hypophosphatemic rickets, autosomal dominant

Symptoms for Hypophosphatemic Rickets, Autosomal Dominant

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Symptoms by clinical synopsis from OMIM:

193100

Clinical features from OMIM:

193100

Symptoms:

 47 (show all 16)
  • muscle weakness/flaccidity
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • bone pain
  • hypophosphatemia
  • autosomal dominant inheritance
  • asthenia/fatigue/weakness
  • mutiple fractures/bone fragility
  • periarticular tissue anomaly/extraarticular calcifications
  • anomalies of teeth and dentition
  • rachidian/spine canal stenosis
  • structural anomalies of the respiratory system and diaphragm
  • myocardium anomalies/myocarditis
  • heart/cardiac failure
  • seizures/epilepsy/absences/spasms/status epilepticus
  • obnubilation/coma/lethargia/desorientation
  • short stature/dwarfism/nanism

HPO human phenotypes related to Hypophosphatemic Rickets, Autosomal Dominant:

(show all 26)
id Description Frequency HPO Source Accession
1 muscle weakness hallmark (90%) HP:0001324
2 hypophosphatemia hallmark (90%) HP:0002148
3 bone pain hallmark (90%) HP:0002653
4 reduced bone mineral density hallmark (90%) HP:0004349
5 chondrocalcinosis typical (50%) HP:0000934
6 recurrent fractures typical (50%) HP:0002757
7 abnormality of the teeth occasional (7.5%) HP:0000164
8 seizures occasional (7.5%) HP:0001250
9 congestive heart failure occasional (7.5%) HP:0001635
10 abnormality of the myocardium occasional (7.5%) HP:0001637
11 abnormality of the respiratory system occasional (7.5%) HP:0002086
12 spinal canal stenosis occasional (7.5%) HP:0003416
13 short stature occasional (7.5%) HP:0004322
14 reduced consciousness/confusion occasional (7.5%) HP:0004372
15 autosomal dominant inheritance HP:0000006
16 renal phosphate wasting HP:0000117
17 abnormality of the teeth HP:0000164
18 hypophosphatemia HP:0002148
19 bone pain HP:0002653
20 rickets HP:0002748
21 osteomalacia HP:0002749
22 abnormality of the lower limb HP:0002814
23 elevated alkaline phosphatase HP:0003155
24 generalized muscle weakness HP:0003324
25 incomplete penetrance HP:0003829
26 short stature HP:0004322

Drugs & Therapeutics for Hypophosphatemic Rickets, Autosomal Dominant

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Drug clinical trials:

Search ClinicalTrials for Hypophosphatemic Rickets, Autosomal Dominant

Search NIH Clinical Center for Hypophosphatemic Rickets, Autosomal Dominant

Genetic Tests for Hypophosphatemic Rickets, Autosomal Dominant

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Genetic tests related to Hypophosphatemic Rickets, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Hypophosphatemic Rickets, Autosomal Dominant20 FGF23
2 Autosomal Dominant Hypophosphatemic Rickets22

Anatomical Context for Hypophosphatemic Rickets, Autosomal Dominant

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MalaCards organs/tissues related to Hypophosphatemic Rickets, Autosomal Dominant:

31
Bone, Heart

Animal Models for Hypophosphatemic Rickets, Autosomal Dominant or affiliated genes

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MGI Mouse Phenotypes related to Hypophosphatemic Rickets, Autosomal Dominant:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.8FGF23, PHEX, MEPE
2MP:00053908.7MEPE, PHEX, FGF23
3MP:00053678.6FGF23, PHEX, SFRP4
4MP:00053818.5FGF23, PHEX, SFRP4
5MP:00053978.5FGF23, PHEX, MEPE

Publications for Hypophosphatemic Rickets, Autosomal Dominant

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Variations for Hypophosphatemic Rickets, Autosomal Dominant

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UniProtKB/Swiss-Prot genetic disease variations for Hypophosphatemic Rickets, Autosomal Dominant:

62
id Symbol AA change Variation ID SNP ID
1FGF23p.Arg176GlnVAR_010717
2FGF23p.Arg179TrpVAR_010718rs28937882
3FGF23p.Arg179GlnVAR_010719

Clinvar genetic disease variations for Hypophosphatemic Rickets, Autosomal Dominant:

6
id Gene Variation Type Significance SNP ID Assembly Location
1FGF23NM_020638.2(FGF23): c.162G> C (p.Gln54His)single nucleotide variantLikely pathogenicrs193922701GRCh37Chr 12, 4488587: 4488587
2FGF23NM_020638.2(FGF23): c.536G> A (p.Arg179Gln)single nucleotide variantPathogenicrs193922702GRCh37Chr 12, 4479729: 4479729
3FGF23NM_020638.2(FGF23): c.527G> A (p.Arg176Gln)single nucleotide variantPathogenicrs104894347GRCh37Chr 12, 4479738: 4479738
4FGF23NM_020638.2(FGF23): c.535C> T (p.Arg179Trp)single nucleotide variantPathogenicrs28937882GRCh37Chr 12, 4479730: 4479730

Expression for genes affiliated with Hypophosphatemic Rickets, Autosomal Dominant

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Search GEO for disease gene expression data for Hypophosphatemic Rickets, Autosomal Dominant.

Pathways for genes affiliated with Hypophosphatemic Rickets, Autosomal Dominant

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4FGF23, MEPE

Compounds for genes affiliated with Hypophosphatemic Rickets, Autosomal Dominant

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Compounds related to Hypophosphatemic Rickets, Autosomal Dominant according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1phosphorus439.4FGF23, PHEX
21,25 dihydroxy vitamin d3439.4PHEX, FGF23
3vitamin d439.3FGF23, PHEX
425-hydroxyvitamin d439.3FGF23, SFRP4
5proline439.2FGF23, PHEX
6sodium43 2410.0PHEX, SFRP4
7calcium43 49 24 1211.2SFRP4, PHEX, FGF23
8calcitriol43 59 24 1211.2FGF23, PHEX, MEPE, SFRP4

GO Terms for genes affiliated with Hypophosphatemic Rickets, Autosomal Dominant

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

idNameGO IDScoreTop Affiliating Genes
1skeletal system developmentGO:00015019.3PHEX, MEPE
2negative regulation of bone mineralizationGO:00305029.1FGF23, MEPE
3phosphate ion homeostasisGO:00550629.0FGF23, SFRP4

Products for genes affiliated with Hypophosphatemic Rickets, Autosomal Dominant

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Sources for Hypophosphatemic Rickets, Autosomal Dominant

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet