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 52 12
Short Stature, Idiopathic, X-Linked 52 70 27 68
 
Shox-Related Short Stature 54
Iss 70

Characteristics:

Orphanet epidemiological data:

54
shox-related short stature:
Age of onset: Infancy,Neonatal

HPO:

64
short stature, idiopathic familial:
Inheritance: x-linked inheritance

Classifications:



External Ids:

OMIM52 300582
Orphanet54 ORPHA314795
ICD10 via Orphanet31 Q87.1
MedGen37 C1845118
MeSH39 D004392

Summaries for Short Stature, Idiopathic Familial

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OMIM:52 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:70 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:

idRelated DiseaseScoreTop Affiliating Genes
1shox-related short stature12.2
2multiple myeloma9.9
3insulin-like growth factor i9.9
4lymphoma9.9
5hodgkin lymphoma9.7
6orthostatic intolerance9.7
7leri-weill dyschondrosteosis9.7
8follicular lymphoma9.7
9growth hormone deficiency9.7

Graphical network of diseases related to Short Stature, Idiopathic Familial:



Diseases related to short stature, idiopathic familial

Symptoms & Phenotypes for Short Stature, Idiopathic Familial

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Clinical features from OMIM:

300582

Human phenotypes related to Short Stature, Idiopathic Familial:

 54 64 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate54 Very frequent (99-80%)
2 micrognathia54 Very frequent (99-80%)
3 short neck54 Very frequent (99-80%)
4 short stature64 54 Very frequent (99-80%) HP:0004322
5 obesity54 Frequent (79-30%)
6 short foot54 Very frequent (99-80%)
7 scoliosis54 Very frequent (99-80%)
8 genu valgum54 Very frequent (99-80%)
9 cubitus valgus54 Very frequent (99-80%)
10 tibial bowing54 Very frequent (99-80%)
11 forearm undergrowth54 Very frequent (99-80%)
12 madelung deformity54 Very frequent (99-80%)
13 lower limb undergrowth54 Very frequent (99-80%)
14 skeletal muscle hypertrophy54 Very frequent (99-80%)
15 ulnar radial head dislocation54 Very frequent (99-80%)
16 episodic ketoacidosis54 Very frequent (99-80%)

Drugs & Therapeutics for Short Stature, Idiopathic Familial

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Drugs for Short Stature, Idiopathic Familial (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Hormones, Hormone Substitutes, and Hormone Antagonists12767
2Hormones13979
3Hormone Antagonists12778

Interventional clinical trials:

idNameStatusNCT IDPhase
1The Impact of the Use of Recombinant Human Growth Hormone on ADHD Characteristics in Children and AdolescentsRecruitingNCT02973061
2Rare 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-Linked27

Anatomical Context for Short Stature, Idiopathic Familial

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

36
Skeletal muscle, Bone

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> CSNVPathogenicrs111549748GRCh37Chr X, 585263: 585263
2SHOXNM_000451.3(SHOX): c.-512C> ASNVPathogenicrs113313554GRCh37Chr X, 585258: 585258
3SHOXNM_000451.3(SHOX): c.-646_-645insTGTinsertionPathogenicrs199946685GRCh37Chr X, 585124: 585125
4SHOXNM_000451.3(SHOX): c.528G> C (p.Glu176Asp)SNVPathogenicrs778921118GRCh38Chr X, 640862: 640862
5SHOXNM_000451.3(SHOX): c.440G> A (p.Arg147His)SNVPathogenicrs886043634GRCh37Chr X, 595515: 595515
6SHOXNM_000451.3(SHOX): c.347A> G (p.Lys116Arg)SNVLikely pathogenicrs193922466GRCh37Chr X, 595422: 595422
7SHOXSHOX, 47.5-KB DEL, DOWNSTREAM ENHANCERdeletionPathogenicChr na, -1: -1
8SHOXNM_000451.3(SHOX): c.583C> T (p.Arg195Ter)SNVPathogenicrs137852552GRCh37Chr X, 601772: 601772
9SHOXNM_000451.3(SHOX): c.517C> T (p.Arg173Cys)SNVPathogenicrs137852556GRCh37Chr X, 601586: 601586

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet