MCID: SHR042
MIFTS: 22

Short Stature, Idiopathic Familial malady

Category: Genetic diseases (common)

Aliases & Classifications for Short Stature, Idiopathic Familial

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Aliases & Descriptions for Short Stature, Idiopathic Familial:

Name: Short Stature, Idiopathic Familial 49 11
Short Stature, Idiopathic, X-Linked 67 24 65
 
Iss 67

Characteristics:

HPO:

61
short stature, idiopathic familial:
Inheritance: x-linked inheritance


Classifications:



External Ids:

OMIM49 300582
MedGen34 C1845118
MeSH36 D004392
UMLS65 C1845118

Summaries for Short Stature, Idiopathic Familial

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OMIM:49 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, also known as short stature, idiopathic, x-linked, is related to malaria and chondrosarcoma, and has symptoms including short stature An important gene associated with Short Stature, Idiopathic Familial is SHOX (Short Stature Homeobox).

UniProtKB/Swiss-Prot:67 Short stature, idiopathic, X-linked: A condition defined by a standing height more than 2 standard deviations below the mean (or below the 2.5 percentile) for sex and chronological age, compared with a well-nourished, genetically relevant population, in the absence of specific causative disorders.

Related Diseases for Short Stature, Idiopathic Familial

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Graphical network of the top 20 diseases related to Short Stature, Idiopathic Familial:



Diseases related to short stature, idiopathic familial

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 short stature HP:0004322

Drugs & Therapeutics for Short Stature, Idiopathic Familial

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Short Stature, Idiopathic Familial

Genetic Tests for Short Stature, Idiopathic Familial

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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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SHOXNM_000451.3(SHOX): c.-507G> Csingle nucleotide variantPathogenicrs111549748GRCh37Chr X, 585263: 585263
2SHOXNM_000451.3(SHOX): c.-512C> Asingle nucleotide variantPathogenicrs113313554GRCh37Chr X, 585258: 585258
3SHOXNM_000451.3(SHOX): c.-646_-645insTGTinsertionPathogenicrs199946685GRCh37Chr X, 585124: 585125
4SHOXNM_000451.3(SHOX): c.347A> G (p.Lys116Arg)single nucleotide variantLikely pathogenicrs193922466GRCh37Chr X, 595422: 595422
5SHOXSHOX, 47.5-KB DEL, DOWNSTREAM ENHANCERdeletionPathogenic
6SHOXNM_000451.3(SHOX): c.583C> T (p.Arg195Ter)single nucleotide variantPathogenicrs137852552GRCh37Chr X, 601772: 601772

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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GO Terms for genes affiliated with Short Stature, Idiopathic Familial

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Sources for Short Stature, Idiopathic Familial

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet