ADHR
MCID: HYP260
MIFTS: 45

Hypophosphatemic Rickets, Autosomal Dominant (ADHR) malady

Genetic diseases, Nephrological diseases, Bone diseases, Endocrine diseases, Fetal diseases, Rare diseases categories
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Summaries for Hypophosphatemic Rickets, Autosomal Dominant

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65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 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), 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, testes and heart, and related mouse phenotypes are immune system and skeleton.

Description from OMIM:47 193100

Aliases & Classifications for Hypophosphatemic Rickets, Autosomal Dominant

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20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 63UMLS via Orphanet, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
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 47 45
autosomal dominant hypophosphatemic rickets 49
autosomal dominant hypophosphatemia 49
adhr 49


External Ids:

UMLS via Orphanet63 C0342642
SNOMED-CT via Orphanet59 237889002
OMIM47 193100
ICD10 via Orphanet26 E83.3

Related Diseases for Hypophosphatemic Rickets, Autosomal Dominant

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17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

193100

Clinical features from OMIM:

193100

Symptoms:

49 (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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

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Search NIH Clinical Center for Hypophosphatemic Rickets, Autosomal Dominant

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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33MalaCards
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MalaCards organs/tissues related to Hypophosphatemic Rickets, Autosomal Dominant:

33
Bone, Testes, Heart

Animal Models for Hypophosphatemic Rickets, Autosomal Dominant or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Hypophosphatemic Rickets, Autosomal Dominant:

37
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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Hypophosphatemic Rickets, Autosomal Dominant:

64
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:

1
id Gene Name Type Significance SNP ID Assembly Location
1FGF23NM_020638.2(FGF23): c.536G> A (p.Arg179Gln)single nucleotide variantPathogenicrs193922702GRCh37Chr 12, 4479729: 4479729
2FGF23NM_020638.2(FGF23): c.527G> A (p.Arg176Gln)single nucleotide variantPathogenicrs104894347GRCh37Chr 12, 4479738: 4479738
3FGF23NM_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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2BioGPS, 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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50PathCards, 53QIAGEN
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Pathways related to Hypophosphatemic Rickets, Autosomal Dominant according to GeneCards/GeneDecks:

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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45Novoseek, 24HMDB, 51PharmGKB, 11DrugBank, 61Tocris Bioscience
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Compounds related to Hypophosphatemic Rickets, Autosomal Dominant according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphorus459.4FGF23, PHEX
21,25 dihydroxy vitamin d3459.4PHEX, FGF23
3vitamin d459.3FGF23, PHEX
425-hydroxyvitamin d459.3FGF23, SFRP4
5proline459.2FGF23, PHEX
6sodium45 2410.0PHEX, SFRP4
7calcium45 51 24 1111.2SFRP4, PHEX, FGF23
8calcitriol45 61 24 1111.2FGF23, PHEX, MEPE, 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:0015019.3PHEX, MEPE
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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Sources for Hypophosphatemic Rickets, Autosomal Dominant

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet