MCID: SHR042
MIFTS: 15

Short Stature, Idiopathic Familial malady

Genetic diseases (common) category

Aliases & Classifications for Short Stature, Idiopathic Familial

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Short Stature, Idiopathic Familial, Aliases & Descriptions:

Name: Short Stature, Idiopathic Familial 45 10
 
Short Stature, Idiopathic, X-Linked 45 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 300582

Summaries for Short Stature, Idiopathic Familial

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OMIM:45 Idiopathic short stature is usually defined as a height below the third percentile for chronological age or minus 2... (300582) more...

MalaCards based summary: Short Stature, Idiopathic Familial, is also known as short stature, idiopathic, x-linked, and has symptoms including x-linked inheritanceand short stature. An important gene associated with Short Stature, Idiopathic Familial is SHOX (short stature homeobox).

Related Diseases for Short Stature, Idiopathic Familial

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Symptoms for Short Stature, Idiopathic Familial

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Clinical features from OMIM:

300582

HPO human phenotypes related to Short Stature, Idiopathic Familial:

id Description Frequency HPO Source Accession
1 x-linked inheritance HP:0001417
2 short stature HP:0004322

Drugs & Therapeutics for Short Stature, Idiopathic Familial

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Drug clinical trials:

Search ClinicalTrials for Short Stature, Idiopathic Familial

Search NIH Clinical Center for Short Stature, Idiopathic Familial

Genetic Tests for Short Stature, Idiopathic Familial

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Genetic tests related to Short Stature, Idiopathic Familial:

id Genetic test Affiliating Genes
1 Short Stature, Idiopathic, X-Linked22

Anatomical Context for Short Stature, Idiopathic Familial

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Animal Models for Short Stature, Idiopathic Familial or affiliated genes

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Publications for Short Stature, Idiopathic Familial

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Variations for Short Stature, Idiopathic Familial

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Clinvar genetic disease variations for Short Stature, Idiopathic Familial:

6
id Gene Variation Type Significance SNP ID Assembly Location
1SHOXNM_000451.3(SHOX): c.347A> G (p.Lys116Arg)single nucleotide variantLikely pathogenicrs193922466GRCh37Chr X, 595422: 595422
2SHOXSHOX, 47.5-KB DEL, DOWNSTREAM ENHANCERdeletionPathogenic
3SHOXNM_000451.3(SHOX): c.583C> T (p.Arg195Ter)single nucleotide variantPathogenicrs137852552GRCh38Chr X, 641037: 641037

Expression for genes affiliated with Short Stature, Idiopathic Familial

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Search GEO for disease gene expression data for Short Stature, Idiopathic Familial.

Pathways for genes affiliated with Short Stature, Idiopathic Familial

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Compounds for genes affiliated with Short Stature, Idiopathic Familial

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GO Terms for genes affiliated with Short Stature, Idiopathic Familial

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Products for genes affiliated with Short Stature, Idiopathic Familial

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Sources for Short Stature, Idiopathic Familial

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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