ISS
MCID: SHR042
MIFTS: 28

Short Stature, Idiopathic Familial (ISS) malady

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

Aliases & Classifications for Short Stature, Idiopathic Familial

Aliases & Descriptions for Short Stature, Idiopathic Familial:

Name: Short Stature, Idiopathic Familial 54 13
Short Stature, Idiopathic, X-Linked 54 66 29
Shox-Related Short Stature 56
Iss 66

Characteristics:

Orphanet epidemiological data:

56
shox-related short stature
Age of onset: Infancy,Neonatal;

HPO:

32
short stature, idiopathic familial:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 54 300582
Orphanet 56 ORPHA314795
ICD10 via Orphanet 34 Q87.1
MedGen 40 C1845118
MeSH 42 D004392

Summaries for Short Stature, Idiopathic Familial

OMIM : 54 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 short stature, short neck and obesity. An important gene associated with Short Stature, Idiopathic Familial is SHOX (Short Stature Homeobox). The drugs Hormone Antagonists and Hormones have been mentioned in the context of this disorder. Affiliated tissues include bone and skeletal muscle.

UniProtKB/Swiss-Prot : 66 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

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

id Related Disease Score Top Affiliating Genes
1 shox-related short stature 12.2
2 multiple myeloma 9.9
3 insulin-like growth factor i 9.9
4 lymphoma 9.9
5 growth hormone deficiency 9.7
6 hodgkin lymphoma 9.7
7 orthostatic intolerance 9.7
8 leri-weill dyschondrosteosis 9.7
9 follicular lymphoma 9.7

Graphical network of the top 20 diseases related to Short Stature, Idiopathic Familial:



Diseases related to Short Stature, Idiopathic Familial

Symptoms & Phenotypes for Short Stature, Idiopathic Familial

Clinical features from OMIM:

300582

Human phenotypes related to Short Stature, Idiopathic Familial:

56 32 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 Very frequent (99-80%) HP:0004322
2 short neck 56 Very frequent (99-80%)
3 obesity 56 Frequent (79-30%)
4 genu valgum 56 Very frequent (99-80%)
5 high palate 56 Very frequent (99-80%)
6 scoliosis 56 Very frequent (99-80%)
7 micrognathia 56 Very frequent (99-80%)
8 short foot 56 Very frequent (99-80%)
9 cubitus valgus 56 Very frequent (99-80%)
10 skeletal muscle hypertrophy 56 Very frequent (99-80%)
11 tibial bowing 56 Very frequent (99-80%)
12 madelung deformity 56 Very frequent (99-80%)
13 lower limb undergrowth 56 Very frequent (99-80%)
14 forearm undergrowth 56 Very frequent (99-80%)
15 ulnar radial head dislocation 56 Very frequent (99-80%)
16 episodic ketoacidosis 56 Very frequent (99-80%)

Drugs & Therapeutics for Short Stature, Idiopathic Familial

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormone Antagonists
2 Hormones
3 Hormones, Hormone Substitutes, and Hormone Antagonists

Interventional clinical trials:


id Name Status NCT ID Phase
1 The Impact of the Use of Recombinant Human Growth Hormone on ADHD Characteristics in Children and Adolescents Recruiting NCT02973061
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Short Stature, Idiopathic Familial

Genetic Tests for Short Stature, Idiopathic Familial

Genetic tests related to Short Stature, Idiopathic Familial:

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

Anatomical Context for Short Stature, Idiopathic Familial

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

39
Bone, Skeletal Muscle

Publications for Short Stature, Idiopathic Familial

Variations for Short Stature, Idiopathic Familial

ClinVar genetic disease variations for Short Stature, Idiopathic Familial:

6
id 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.517C> T (p.Arg173Cys) single nucleotide variant Pathogenic rs137852556 GRCh37 Chromosome X, 601586: 601586
3 SHOX NM_000451.3(SHOX): c.347A> G (p.Lys116Arg) single nucleotide variant Likely pathogenic rs193922466 GRCh37 Chromosome X, 595422: 595422
4 SHOX SHOX, 47.5-KB DEL, DOWNSTREAM ENHANCER deletion Pathogenic
5 SHOX NM_000451.3(SHOX): c.-507G> C single nucleotide variant Pathogenic rs111549748 GRCh37 Chromosome X, 585263: 585263
6 SHOX NM_000451.3(SHOX): c.-512C> A single nucleotide variant Pathogenic rs113313554 GRCh37 Chromosome X, 585258: 585258
7 SHOX NM_000451.3(SHOX): c.-646_-645insTGT insertion Pathogenic rs199946685 GRCh37 Chromosome X, 585124: 585125
8 SHOX NM_000451.3(SHOX): c.528G> C (p.Glu176Asp) single nucleotide variant Pathogenic rs778921118 GRCh38 Chromosome X, 640862: 640862
9 SHOX NM_000451.3(SHOX): c.440G> A (p.Arg147His) single nucleotide variant Pathogenic rs886043634 GRCh37 Chromosome X, 595515: 595515
10 SHOX NM_000451.3(SHOX): c.544+1G> A single nucleotide variant Pathogenic rs1057518701 GRCh38 Chromosome X, 640879: 640879

Expression for Short Stature, Idiopathic Familial

Search GEO for disease gene expression data for Short Stature, Idiopathic Familial.

Pathways for Short Stature, Idiopathic Familial

GO Terms for Short Stature, Idiopathic Familial

Sources for Short Stature, Idiopathic Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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