MCID: XLN211
MIFTS: 16

X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome

Categories: Eye diseases, Fetal diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for X-Linked Intellectual...

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

Name: X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome 58
Young-Hughes Syndrome 58
Young Hughes Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for X-Linked Intellectual...

MalaCards based summary : X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome, also known as young-hughes syndrome, is related to x-linked intellectual disability - short stature - obesity. Affiliated tissues include eye, skin and testes, and related phenotypes are obesity and intellectual disability

Related Diseases for X-Linked Intellectual...

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

# Related Disease Score Top Affiliating Genes
1 x-linked intellectual disability - short stature - obesity 11.9

Symptoms & Phenotypes for X-Linked Intellectual...

Human phenotypes related to X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001513
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0001250
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 behavioral abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0000708
6 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
7 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
8 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
9 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
10 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
11 abnormality of the voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0001608
12 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
13 aplasia/hypoplasia of the testes 58 31 hallmark (90%) Very frequent (99-80%) HP:0010468
14 ichthyosis 58 31 frequent (33%) Frequent (79-30%) HP:0008064
15 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
16 cutaneous photosensitivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000992
17 hernia of the abdominal wall 58 31 occasional (7.5%) Occasional (29-5%) HP:0004299
18 eczema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000964

Drugs & Therapeutics for X-Linked Intellectual...

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

Genetic Tests for X-Linked Intellectual...

Anatomical Context for X-Linked Intellectual...

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

40
Eye, Skin, Testes

Publications for X-Linked Intellectual...

Variations for X-Linked Intellectual...

Expression for X-Linked Intellectual...

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

Pathways for X-Linked Intellectual...

GO Terms for X-Linked Intellectual...

Sources for X-Linked Intellectual...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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