MCID: SHR042
MIFTS: 13

Short Stature, Idiopathic Familial malady

Genetic diseases, Bone diseases, Fetal diseases, Rare diseases categories
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Summaries for Short Stature, Idiopathic Familial

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MalaCards based summary: Short Stature, Idiopathic Familial, also known as shox-related short stature, is related to shox-related short stature, and has symptoms including An important gene associated with Short Stature, Idiopathic Familial is SHOX (short stature homeobox). Affiliated tissues include bone.

Description from OMIM:46 300582

Aliases & Classifications for Short Stature, Idiopathic Familial

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Sources:
48Orphanet, 46OMIM, 26ICD10 via Orphanet
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Short Stature, Idiopathic Familial, Aliases & Descriptions:

Name: Short Stature, Idiopathic Familial 46
 
Shox-Related Short Stature 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
shox-related short stature:
Age of onset: Neonatal/infancy


External Ids:

OMIM46 300582
ICD10 via Orphanet26 Q87.1

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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1shox-related short stature10.5

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:

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Search 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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MalaCards organs/tissues related to Short Stature, Idiopathic Familial:

32
Bone

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 Name 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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Expression patterns in normal tissues for genes affiliated with Short Stature, Idiopathic Familial

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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  • Antibodies
  • Proteins
  • Lysates

Sources for Short Stature, Idiopathic Familial

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet