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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47OMIM, 33MalaCards
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MalaCards: Short Stature, Idiopathic Familial, also known as shox-related short stature, is related to shox-related short stature. An important gene associated with Short Stature, Idiopathic Familial is SHOX (short stature homeobox). Affiliated tissues include bone.

Description from OMIM:47 300582

Aliases & Classifications for Short Stature, Idiopathic Familial

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49Orphanet, 47OMIM, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
shox-related short stature:
Age of onset: Neonatal/infancy


Aliases & Descriptions:

short stature, idiopathic familial 47
shox-related short stature 49


External Ids:

OMIM47 300582
ICD10 via Orphanet26 Q87.1

Related Diseases for Short Stature, Idiopathic Familial

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17GeneCards, 18GeneDecks
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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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47OMIM
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Clinical features from OMIM:

300582

Drugs & Therapeutics for Short Stature, Idiopathic Familial

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Short Stature, Idiopathic Familial

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Anatomical Context for Short Stature, Idiopathic Familial

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33MalaCards
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MalaCards organs/tissues related to Short Stature, Idiopathic Familial:

33
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Short Stature, Idiopathic Familial:

1
id Gene Name Type Significance SNP ID Assembly Location
1SHOXSHOX, 47.5-KB DEL, DOWNSTREAM ENHANCERdeletionPathogenic/card/short_stature_idiopathic_familial
2SHOXNM_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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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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
  • Antibodies

Sources for Short Stature, Idiopathic Familial

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet