MCID: SHR042
MIFTS: 24

Short Stature, Idiopathic Familial malady

Genetic diseases (common) category

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 24 67
 
Iss 67


Classifications:



External Ids:

OMIM49 300582
MedGen34 C1845118
MeSH36 D004392

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 leri-weill dyschondrosteosis and insulin-like growth factor i, and has symptoms including x-linked inheritanceand 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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Diseases related to Short Stature, Idiopathic Familial via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 79)
idRelated DiseaseScoreTop Affiliating Genes
1leri-weill dyschondrosteosis29.6GYPB, SHOX
2insulin-like growth factor i10.2
3hiv-110.2
4acquired immunodeficiency syndrome10.2
5human immunodeficiency virus infectious disease10.2
6dwarfism10.2
7multiple myeloma10.1
8follicular lymphoma10.1
9secondary syphilis10.1
10bone development disease10.1
11myeloma10.1
12skin benign neoplasm10.1
13skin tag10.1
14colorectal cancer9.9
15premature ovarian failure 69.9
16hepatocellular carcinoma9.9
17hodgkin lymphoma9.9
18short syndrome9.9
19follicular lymphoma 19.9
20trichohepatoenteric syndrome 29.9
21farber lipogranulomatosis9.9
22colorectal cancer 69.9
23colorectal cancer 29.9
24burkitt lymphoma9.9
25colorectal cancer 19.9
26lymphoma, non-hodgkin9.9
27coronary heart disease 69.9
28colorectal cancer 39.9
29ovarian dysgenesis 29.9
30premature ovarian failure9.9
31child syndrome9.9
32speech and communication disorders9.9
33b-cell lymphomas9.9
34chronic kidney failure9.9
35end stage renal failure9.9
36gamma chain deficiency9.9
37lymphosarcoma9.9
38adult lymphoma9.9
39intermediate coronary syndrome9.9
40gastrointestinal carcinoma9.9
41chromosomal disease9.9
42colonic benign neoplasm9.9
43colonic disease9.9
44congenital heart disease9.9
45congenital nervous system abnormality9.9
46female reproductive system disease9.9
47gastrointestinal system cancer9.9
48gastrointestinal system disease9.9
49gonadal disease9.9
50gonadal dysgenesis9.9

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 x-linked inheritance HP:0001417
2 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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Genetic tests related to Short Stature, Idiopathic Familial:

id Genetic test Affiliating Genes
1 Short Stature, Idiopathic, X-Linked24

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