MCID: XLN122
MIFTS: 8

X-Linked Intellectual Disability - Short Stature - Obesity

Categories: Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for X-Linked Intellectual Disability - Short Stature - Obesity

MalaCards integrated aliases for X-Linked Intellectual Disability - Short Stature - Obesity:

Name: X-Linked Intellectual Disability - Short Stature - Obesity 54
Sex-Linked Mental Retardation, Short Stature, Obesity and Hypogonadism 54

Classifications:



Summaries for X-Linked Intellectual Disability - Short Stature - Obesity

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3055Disease definitionX-linkedintellectual disability-hypogonadism-ichthyosis-obesity-short staturesyndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.Visit the Orphanet disease page for more resources.

MalaCards based summary : X-Linked Intellectual Disability - Short Stature - Obesity, also known as sex-linked mental retardation, short stature, obesity and hypogonadism, is related to hypogonadism and hypogonadotropism. Affiliated tissues include skin.

Related Diseases for X-Linked Intellectual Disability - Short Stature - Obesity

Diseases related to X-Linked Intellectual Disability - Short Stature - Obesity via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypogonadism 10.4
2 hypogonadotropism 10.4

Symptoms & Phenotypes for X-Linked Intellectual Disability - Short Stature - Obesity

Drugs & Therapeutics for X-Linked Intellectual Disability - Short Stature - Obesity

Search Clinical Trials , NIH Clinical Center for X-Linked Intellectual Disability - Short Stature - Obesity

Genetic Tests for X-Linked Intellectual Disability - Short Stature - Obesity

Anatomical Context for X-Linked Intellectual Disability - Short Stature - Obesity

MalaCards organs/tissues related to X-Linked Intellectual Disability - Short Stature - Obesity:

42
Skin

Publications for X-Linked Intellectual Disability - Short Stature - Obesity

Articles related to X-Linked Intellectual Disability - Short Stature - Obesity:

# Title Authors Year
1
Sex-linked mental retardation, short stature, obesity and hypogonadism: report of a family. ( 7175926 )
1982

Variations for X-Linked Intellectual Disability - Short Stature - Obesity

Expression for X-Linked Intellectual Disability - Short Stature - Obesity

Search GEO for disease gene expression data for X-Linked Intellectual Disability - Short Stature - Obesity.

Pathways for X-Linked Intellectual Disability - Short Stature - Obesity

GO Terms for X-Linked Intellectual Disability - Short Stature - Obesity

Sources for X-Linked Intellectual Disability - Short Stature - Obesity

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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