MCID: SHR042
MIFTS: 27

Short Stature, Idiopathic Familial malady

Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Short Stature, Idiopathic Familial

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Aliases & Descriptions for Short Stature, Idiopathic Familial:

Name: Short Stature, Idiopathic Familial 50 12
Short Stature, Idiopathic, X-Linked 50 68 25
 
Shox-Related Short Stature 52
Iss 68

Characteristics:

Orphanet epidemiological data:

52
shox-related short stature:
Age of onset: Infancy,Neonatal

HPO:

62
short stature, idiopathic familial:
Inheritance: x-linked inheritance


Classifications:



External Ids:

OMIM50 300582
Orphanet52 ORPHA314795
ICD10 via Orphanet29 Q87.1
MedGen35 C1845118
MeSH37 D004392

Summaries for Short Stature, Idiopathic Familial

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OMIM:50 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 shox-related short stature and multiple myeloma, and has symptoms including Array, Array and Array. An important gene associated with Short Stature, Idiopathic Familial is SHOX (Short Stature Homeobox). Affiliated tissues include skeletal muscle and bone.

UniProtKB/Swiss-Prot:68 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 all 13)
idRelated DiseaseScoreTop Affiliating Genes
1shox-related short stature12.3
2multiple myeloma10.0
3insulin-like growth factor i10.0
4lymphoma10.0
5myeloma10.0
6hodgkin lymphoma9.8
7orthostatic intolerance9.8
8leri-weill dyschondrosteosis9.8
9follicular lymphoma9.8
10growth hormone deficiency9.8
11autism susceptibility, x-linked 29.5GYPB, SHOX
12langer mesomelic dysplasia9.4GYPB, SHOX
13asperger syndrome susceptibility, x-linked 29.2GYPB, SHOX

Graphical network of 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

Symptoms:

 52 (show all 16)
  • high palate
  • micrognathia
  • short neck
  • short stature
  • obesity
  • short foot
  • scoliosis
  • genu valgum
  • cubitus valgus
  • tibial bowing
  • forearm undergrowth
  • madelung deformity
  • lower limb undergrowth
  • skeletal muscle hypertrophy
  • ulnar radial head dislocation
  • episodic ketoacidosis

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:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search 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-Linked25
2 Short Stature, Idiopathic, X-Linked (iss)25

Anatomical Context for Short Stature, Idiopathic Familial

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

34
Skeletal muscle, 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:

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet