Short Stature, Idiopathic, X-Linked disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SHR108 MIFTS: 25	Short Stature, Idiopathic, X-Linked Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Short Stature, Idiopathic, X-Linked

MalaCards integrated aliases for Short Stature, Idiopathic, X-Linked:

Name: Short Stature, Idiopathic, X-Linked ⁵⁷ ⁷⁵ ²⁹ ⁶

Short Stature, Idiopathic Familial ⁵⁷ ¹³

Iss ⁵⁷ ⁷⁵

Stature, Short, Idiopathic Familial ⁴⁰

Shox-Related Short Stature ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

HPO:

³²

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

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly associated with short stature

Orphanet: ⁵⁹

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 300582

Orphanet ⁵⁹ ORPHA314795

ICD10 via Orphanet ³⁴ Q87.1

MedGen ⁴² C1845118

MeSH ⁴⁴ D004392

SNOMED-CT via HPO ⁶⁹ 27272007 32958008 95427009 more

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Summaries for Short Stature, Idiopathic, X-Linked

OMIM : ⁵⁷ Idiopathic short stature is usually defined as a height below the third percentile for chronological age or minus 2 standard deviations (SD) of national height standards in the absence of specific causative disorders (Rao et al., 1997). For a discussion of genetic heterogeneity of quantitative trait loci for stature, see STQTL1 (606255). (300582)

MalaCards based summary : Short Stature, Idiopathic, X-Linked, also known as short stature, idiopathic familial, is related to myeloma, multiple and insulin-like growth factor i. An important gene associated with Short Stature, Idiopathic, X-Linked is SHOX (Short Stature Homeobox). Affiliated tissues include skeletal muscle and bone, and related phenotypes are high palate and micrognathia

UniProtKB/Swiss-Prot : ⁷⁵ 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.

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Related Diseases for Short Stature, Idiopathic, X-Linked

Diseases related to Short Stature, Idiopathic, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)

#	Related Disease	Score
1	myeloma, multiple	10.1
2	insulin-like growth factor i	9.9
3	lymphoma	9.9
4	leri-weill dyschondrosteosis	9.8
5	renal cell carcinoma, nonpapillary	9.8
6	lymphoma, hodgkin, classic	9.8
7	orthostatic intolerance	9.8
8	lymphoma, non-hodgkin, familial	9.8
9	follicular lymphoma	9.8
10	hepatitis	9.8
11	hepatitis b	9.8
12	mucositis	9.8
13	chlamydia	9.8
14	influenza	9.8
15	growth hormone deficiency	9.8

Graphical network of the top 20 diseases related to Short Stature, Idiopathic, X-Linked:

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Symptoms & Phenotypes for Short Stature, Idiopathic, X-Linked

Clinical features from OMIM:

300582

Human phenotypes related to Short Stature, Idiopathic, X-Linked:

⁵⁹ ³² (show all 16)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	high palate ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000218
2	micrognathia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000347
3	short neck ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000470
4	short stature ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0004322
5	obesity ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001513
6	short foot ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001773
7	scoliosis ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002650
8	genu valgum ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002857
9	cubitus valgus ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002967
10	tibial bowing ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002982
11	forearm undergrowth ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0009821
12	madelung deformity ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003067
13	lower limb undergrowth ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0009816
14	skeletal muscle hypertrophy ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003712
15	ulnar radial head dislocation ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0005856
16	episodic ketoacidosis ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0005974

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Drugs & Therapeutics for Short Stature, Idiopathic, X-Linked

Search Clinical Trials , NIH Clinical Center for Short Stature, Idiopathic, X-Linked

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Genetic Tests for Short Stature, Idiopathic, X-Linked

Genetic tests related to Short Stature, Idiopathic, X-Linked:

#	Genetic test	Affiliating Genes
1	Short Stature, Idiopathic, X-Linked ²⁹	SHOX

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Anatomical Context for Short Stature, Idiopathic, X-Linked

MalaCards organs/tissues related to Short Stature, Idiopathic, X-Linked:

⁴¹

Skeletal Muscle, Bone

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Publications for Short Stature, Idiopathic, X-Linked

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Genes for Short Stature, Idiopathic, X-Linked

Genes related to Short Stature, Idiopathic, X-Linked (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SHOX	Short Stature Homeobox	Protein Coding	1379.49	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	22791839 9140395

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Variations for Short Stature, Idiopathic, X-Linked

ClinVar genetic disease variations for Short Stature, Idiopathic, X-Linked:

⁶

(show top 50) (show all 64)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SHOX	NM_000451.3(SHOX): c.583C> T (p.Arg195Ter)	single nucleotide variant	Pathogenic	rs137852552	GRCh37	Chromosome X, 601772: 601772
2	SHOX	NM_000451.3(SHOX): c.583C> T (p.Arg195Ter)	single nucleotide variant	Pathogenic	rs137852552	GRCh38	Chromosome X, 641037: 641037
3	SHOX	NM_000451.3(SHOX): c.583C> T (p.Arg195Ter)	single nucleotide variant	Pathogenic	rs137852552	GRCh38	Chromosome Y, 641037: 641037
4	SHOX	NM_000451.3(SHOX): c.583C> T (p.Arg195Ter)	single nucleotide variant	Pathogenic	rs137852552	GRCh37	Chromosome Y, 551772: 551772
5	SHOX	NM_000451.3(SHOX): c.517C> T (p.Arg173Cys)	single nucleotide variant	Pathogenic	rs137852556	GRCh37	Chromosome X, 601586: 601586
6	SHOX	NM_000451.3(SHOX): c.517C> T (p.Arg173Cys)	single nucleotide variant	Pathogenic	rs137852556	GRCh38	Chromosome X, 640851: 640851
7	SHOX	NM_000451.3(SHOX): c.517C> T (p.Arg173Cys)	single nucleotide variant	Pathogenic	rs137852556	GRCh38	Chromosome Y, 640851: 640851
8	SHOX	NM_000451.3(SHOX): c.517C> T (p.Arg173Cys)	single nucleotide variant	Pathogenic	rs137852556	GRCh37	Chromosome Y, 551586: 551586
9	SHOX	NM_000451.3(SHOX): c.347A> G (p.Lys116Arg)	single nucleotide variant	Likely pathogenic	rs193922466	GRCh38	Chromosome X, 634687: 634687
10	SHOX	NM_000451.3(SHOX): c.347A> G (p.Lys116Arg)	single nucleotide variant	Likely pathogenic	rs193922466	GRCh37	Chromosome X, 595422: 595422
11	SHOX	NM_000451.3(SHOX): c.347A> G (p.Lys116Arg)	single nucleotide variant	Likely pathogenic	rs193922466	GRCh37	Chromosome Y, 545422: 545422
12	SHOX	NM_000451.3(SHOX): c.347A> G (p.Lys116Arg)	single nucleotide variant	Likely pathogenic	rs193922466	GRCh38	Chromosome Y, 634687: 634687
13	SHOX	SHOX, 47.5-KB DEL, DOWNSTREAM ENHANCER	deletion	Pathogenic
14	SHOX	NM_000451.3(SHOX): c.-507G> C	single nucleotide variant	Pathogenic	rs111549748	GRCh38	Chromosome X, 624528: 624528
15	SHOX	NM_000451.3(SHOX): c.-507G> C	single nucleotide variant	Pathogenic	rs111549748	GRCh37	Chromosome X, 585263: 585263
16	SHOX	NM_000451.3(SHOX): c.-507G> C	single nucleotide variant	Pathogenic	rs111549748	GRCh38	Chromosome Y, 624528: 624528
17	SHOX	NM_000451.3(SHOX): c.-507G> C	single nucleotide variant	Pathogenic	rs111549748	GRCh37	Chromosome Y, 535263: 535263
18	SHOX	NM_000451.3(SHOX): c.-512C> A	single nucleotide variant	Pathogenic	rs113313554	GRCh37	Chromosome X, 585258: 585258
19	SHOX	NM_000451.3(SHOX): c.-512C> A	single nucleotide variant	Pathogenic	rs113313554	GRCh38	Chromosome X, 624523: 624523
20	SHOX	NM_000451.3(SHOX): c.-512C> A	single nucleotide variant	Pathogenic	rs113313554	GRCh38	Chromosome Y, 624523: 624523
21	SHOX	NM_000451.3(SHOX): c.-512C> A	single nucleotide variant	Pathogenic	rs113313554	GRCh37	Chromosome Y, 535258: 535258
22	SHOX	NM_000451.3(SHOX): c.-646_-645insTGT	insertion	Pathogenic	rs199946685	GRCh37	Chromosome X, 585124: 585125
23	SHOX	NM_000451.3(SHOX): c.-646_-645insTGT	insertion	Pathogenic	rs199946685	GRCh38	Chromosome X, 624389: 624390
24	SHOX	NM_000451.3(SHOX): c.-646_-645insTGT	insertion	Pathogenic	rs199946685	GRCh38	Chromosome Y, 624389: 624390
25	SHOX	NM_000451.3(SHOX): c.-646_-645insTGT	insertion	Pathogenic	rs199946685	GRCh37	Chromosome Y, 535124: 535125
26	SHOX	NM_000451.3(SHOX): c.-372G> A	single nucleotide variant	Uncertain significance	rs2239401	GRCh37	Chromosome X, 591261: 591261
27	SHOX	NM_000451.3(SHOX): c.-372G> A	single nucleotide variant	Uncertain significance	rs2239401	GRCh38	Chromosome X, 630526: 630526
28	SHOX	NM_000451.3(SHOX): c.-372G> A	single nucleotide variant	Uncertain significance	rs2239401	GRCh37	Chromosome Y, 541261: 541261
29	SHOX	NM_000451.3(SHOX): c.-372G> A	single nucleotide variant	Uncertain significance	rs2239401	GRCh38	Chromosome Y, 630526: 630526
30	SHOX	NM_000451.3(SHOX): c.528G= (p.Glu176=)	single nucleotide variant	Uncertain significance	rs778921118	GRCh38	Chromosome X, 640862: 640862
31	SHOX	NM_000451.3(SHOX): c.528G= (p.Glu176=)	single nucleotide variant	Uncertain significance	rs778921118	GRCh37	Chromosome X, 601597: 601597
32	SHOX	NM_000451.3(SHOX): c.528G= (p.Glu176=)	single nucleotide variant	Uncertain significance	rs778921118	GRCh38	Chromosome Y, 640862: 640862
33	SHOX	NM_000451.3(SHOX): c.528G= (p.Glu176=)	single nucleotide variant	Uncertain significance	rs778921118	GRCh37	Chromosome Y, 551597: 551597
34	SHOX	NM_000451.3(SHOX): c.528G> C (p.Glu176Asp)	single nucleotide variant	Pathogenic	rs778921118	GRCh38	Chromosome X, 640862: 640862
35	SHOX	NM_000451.3(SHOX): c.528G> C (p.Glu176Asp)	single nucleotide variant	Pathogenic	rs778921118	GRCh37	Chromosome X, 601597: 601597
36	SHOX	NM_000451.3(SHOX): c.528G> C (p.Glu176Asp)	single nucleotide variant	Pathogenic	rs778921118	GRCh38	Chromosome Y, 640862: 640862
37	SHOX	NM_000451.3(SHOX): c.528G> C (p.Glu176Asp)	single nucleotide variant	Pathogenic	rs778921118	GRCh37	Chromosome Y, 551597: 551597
38	SHOX	NM_000451.3(SHOX): c.*41C> A	single nucleotide variant	Uncertain significance	rs749355015	GRCh38	Chromosome X, 644677: 644677
39	SHOX	NM_000451.3(SHOX): c.*41C> A	single nucleotide variant	Uncertain significance	rs749355015	GRCh37	Chromosome X, 605412: 605412
40	SHOX	NM_000451.3(SHOX): c.*41C> A	single nucleotide variant	Uncertain significance	rs749355015	GRCh38	Chromosome Y, 644677: 644677
41	SHOX	NM_000451.3(SHOX): c.*41C> A	single nucleotide variant	Uncertain significance	rs749355015	GRCh37	Chromosome Y, 555412: 555412
42	SHOX	NM_000451.3(SHOX): c.284_285dupAG	duplication	Uncertain significance	rs369390009	GRCh38	Chromosome X, 644920: 644921
43	SHOX	NM_000451.3(SHOX): c.284_285dupAG	duplication	Uncertain significance	rs369390009	GRCh37	Chromosome X, 605655: 605656
44	SHOX	NM_000451.3(SHOX): c.284_285dupAG	duplication	Uncertain significance	rs369390009	GRCh37	Chromosome Y, 555655: 555656
45	SHOX	NM_000451.3(SHOX): c.284_285dupAG	duplication	Uncertain significance	rs369390009	GRCh38	Chromosome Y, 644920: 644921
46	SHOX	NM_000451.3(SHOX): c.-649C> G	single nucleotide variant	Likely benign	rs886039879	GRCh37	Chromosome X, 585121: 585121
47	SHOX	NM_000451.3(SHOX): c.-649C> G	single nucleotide variant	Likely benign	rs886039879	GRCh38	Chromosome X, 624386: 624386
48	SHOX	NM_000451.3(SHOX): c.-649C> G	single nucleotide variant	Likely benign	rs886039879	GRCh37	Chromosome Y, 535121: 535121
49	SHOX	NM_000451.3(SHOX): c.-649C> G	single nucleotide variant	Likely benign	rs886039879	GRCh38	Chromosome Y, 624386: 624386
50	SHOX	NM_000451.3(SHOX): c.440G> A (p.Arg147His)	single nucleotide variant	Pathogenic	rs886043634	GRCh37	Chromosome X, 595515: 595515

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Expression for Short Stature, Idiopathic, X-Linked

Search GEO for disease gene expression data for Short Stature, Idiopathic, X-Linked.

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Pathways for Short Stature, Idiopathic, X-Linked

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GO Terms for Short Stature, Idiopathic, X-Linked

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