MCID: SHR042
MIFTS: 15

Short Stature, Idiopathic Familial malady

Genetic diseases (common) category

Aliases & Classifications for Short Stature, Idiopathic Familial

About this section

Aliases & Descriptions for Short Stature, Idiopathic Familial:

Name: Short Stature, Idiopathic Familial 46 9
 
Short Stature, Idiopathic, X-Linked 46 22


Classifications:



External Ids:

OMIM46 300582

Summaries for Short Stature, Idiopathic Familial

About this section
OMIM:46 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

About this section

Symptoms for Short Stature, Idiopathic Familial

About this section


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

About this section

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

About this section

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

About this section

Animal Models for Short Stature, Idiopathic Familial or affiliated genes

About this section

Publications for Short Stature, Idiopathic Familial

About this section

Variations for Short Stature, Idiopathic Familial

About this section

Clinvar genetic disease variations for Short Stature, Idiopathic Familial:

5
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

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

Pathways for genes affiliated with Short Stature, Idiopathic Familial

About this section

Compounds for genes affiliated with Short Stature, Idiopathic Familial

About this section

GO Terms for genes affiliated with Short Stature, Idiopathic Familial

About this section

Sources for Short Stature, Idiopathic Familial

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet