ADHR
MCID: HYP260
MIFTS: 45

Hypophosphatemic Rickets, Autosomal Dominant (ADHR) malady

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

Summaries for Hypophosphatemic Rickets, Autosomal Dominant

About this section
Sources:
66Wikipedia, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
Wikipedia:66 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:48 193100

Aliases & Classifications for Hypophosphatemic Rickets, Autosomal Dominant

About this section
Sources:
21GeneTests, 23GTR, 48OMIM, 46Novoseek, 50Orphanet, 64UMLS via Orphanet, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
autosomal dominant hypophosphatemic rickets:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

hypophosphatemic rickets, autosomal dominant 21 23 48 46
autosomal dominant hypophosphatemic rickets 50
autosomal dominant hypophosphatemia 50
adhr 50


External Ids:

UMLS via Orphanet64 C0342642
SNOMED-CT via Orphanet60 237889002
OMIM48 193100
ICD10 via Orphanet27 E83.3

Related Diseases for Hypophosphatemic Rickets, Autosomal Dominant

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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



Diseases related to hypophosphatemic rickets, autosomal dominant

Symptoms for Hypophosphatemic Rickets, Autosomal Dominant

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

193100

Clinical features from OMIM:

193100

Symptoms:

50 (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

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Hypophosphatemic Rickets, Autosomal Dominant

Drug clinical trials:

Search ClinicalTrials for Hypophosphatemic Rickets, Autosomal Dominant

Search NIH Clinical Center for Hypophosphatemic Rickets, Autosomal Dominant

Search CenterWatch for Hypophosphatemic Rickets, Autosomal Dominant

Genetic Tests for Hypophosphatemic Rickets, Autosomal Dominant

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Hypophosphatemic Rickets, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Hypophosphatemic Rickets, Autosomal Dominant21 FGF23
2 Autosomal Dominant Hypophosphatemic Rickets23

Anatomical Context for Hypophosphatemic Rickets, Autosomal Dominant

About this section
Sources:
34MalaCards
See all sources

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

34
Bone, Testes, Heart

Animal Models for Hypophosphatemic Rickets, Autosomal Dominant or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Hypophosphatemic Rickets, Autosomal Dominant:

38
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

About this section

Variations for Hypophosphatemic Rickets, Autosomal Dominant

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

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

65
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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Hypophosphatemic Rickets, Autosomal Dominant

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

Pathways for genes affiliated with Hypophosphatemic Rickets, Autosomal Dominant

About this section
Sources:
51PathCards, 54QIAGEN
See all sources

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

About this section
Sources:
46Novoseek, 25HMDB, 52PharmGKB, 12DrugBank, 62Tocris Bioscience
See all sources

Compounds related to Hypophosphatemic Rickets, Autosomal Dominant according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphorus469.4FGF23, PHEX
21,25 dihydroxy vitamin d3469.4PHEX, FGF23
3vitamin d469.3FGF23, PHEX
425-hydroxyvitamin d469.3FGF23, SFRP4
5proline469.2FGF23, PHEX
6sodium46 2510.0PHEX, SFRP4
7calcium46 52 25 1211.2SFRP4, PHEX, FGF23
8calcitriol46 62 25 1211.2FGF23, PHEX, MEPE, SFRP4

GO Terms for genes affiliated with Hypophosphatemic Rickets, Autosomal Dominant

About this section
Sources:
17Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hypophosphatemic Rickets, Autosomal Dominant

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet