ADHR
MCID: HYP260
MIFTS: 45

Hypophosphatemic Rickets, Autosomal Dominant (ADHR) malady

Nephrological diseases, Bone diseases, Endocrine diseases, Fetal diseases categories

Summaries for Hypophosphatemic Rickets, Autosomal Dominant

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Autosomal dominant hypophosphatemic rickets (ADHR) is a rare hereditary disease in which excessive loss... more...

MalaCards: Hypophosphatemic Rickets, Autosomal Dominant, also known as autosomal dominant hypophosphatemic rickets, is related to rickets and hypophosphatemia, and has symptoms including short stature/dwarfism/nanism, obnubilation/coma/lethargia/desorientation and seizures/epilepsy/absences/spasms/status epilepticus. An important gene associated with Hypophosphatemic Rickets, Autosomal Dominant is FGF23 (fibroblast growth factor 23). The compounds vitamin d and phosphorus have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and heart, and related mouse phenotypes are skeleton and renal/urinary system.

Description from OMIM:46 193100

Aliases & Classifications for Hypophosphatemic Rickets, Autosomal Dominant

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20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
autosomal dominant hypophosphatemic rickets:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

hypophosphatemic rickets, autosomal dominant 20 22 46 44
autosomal dominant hypophosphatemic rickets 48
autosomal dominant hypophosphatemia 48
adhr 48


External Ids:

SNOMED-CT via Orphanet57 237889002
OMIM46 193100
ICD10 via Orphanet26 E83.3

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

Clinical Features for Hypophosphatemic Rickets, Autosomal Dominant

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46OMIM, 48Orphanet
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Clinical features from OMIM:

193100

Clinical synopsis from OMIM:

193100

Symptoms:

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

Drugs & Therapeutics for Hypophosphatemic Rickets, Autosomal Dominant

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Hypophosphatemic Rickets, Autosomal Dominant

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20GeneTests, 22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Hypophosphatemic Rickets, Autosomal Dominant:

32
Bone, Testes, Heart

Animal Models for Hypophosphatemic Rickets, Autosomal Dominant or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hypophosphatemic Rickets, Autosomal Dominant:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.8FGF23, MEPE, PHEX
2MP:00053678.4FGF23, PHEX, SFRP4
3MP:00053818.2FGF23, PHEX, SFRP4

Publications for Hypophosphatemic Rickets, Autosomal Dominant

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Genetic Variations for Hypophosphatemic Rickets, Autosomal Dominant

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62UniProtKB/Swiss-Prot
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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

Expression for genes affiliated with Hypophosphatemic Rickets, Autosomal Dominant

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hypophosphatemic Rickets, Autosomal Dominant

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Pathways for genes affiliated with Hypophosphatemic Rickets, Autosomal Dominant

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Compounds for genes affiliated with Hypophosphatemic Rickets, Autosomal Dominant

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44Novoseek, 59Tocris Bioscience, 11DrugBank, 24HMDB
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Compounds related to Hypophosphatemic Rickets, Autosomal Dominant according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vitamin d449.3FGF23, PHEX
2phosphorus449.2PHEX, FGF23
325-hydroxyvitamin d449.1FGF23, SFRP4
41,25 dihydroxy vitamin d3449.0FGF23, PHEX
5calcitriol44 59 11 2411.1FGF23, MEPE, PHEX, SFRP4

GO Terms for genes affiliated with Hypophosphatemic Rickets, Autosomal Dominant

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16Gene Ontology
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Biological processes related to Hypophosphatemic Rickets, Autosomal Dominant according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1skeletal system developmentGO:0015019.3MEPE, PHEX
2negative regulation of bone mineralizationGO:0305029.1FGF23, MEPE
3phosphate ion homeostasisGO:0550629.0FGF23, SFRP4

Products for genes affiliated with Hypophosphatemic Rickets, Autosomal Dominant

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  • Antibodies
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  • Antibodies

Sources for Hypophosphatemic Rickets, Autosomal Dominant

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet