MCID: XLN211
MIFTS: 13

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 59
Young-Hughes Syndrome 59
Young Hughes Syndrome 72

Characteristics:

Orphanet epidemiological data:

59
x-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

UMLS via Orphanet 73 C0796264
Orphanet 59 ORPHA3055
UMLS 72 C0796264

Summaries for X-Linked Intellectual...

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

Related Diseases for X-Linked Intellectual...

Symptoms & Phenotypes for X-Linked Intellectual...

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

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001513
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
4 behavioral abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0000708
5 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
6 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
7 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
8 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
9 telecanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000506
10 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
11 abnormality of the voice 59 32 hallmark (90%) Very frequent (99-80%) HP:0001608
12 hypoplasia of penis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008736
13 aplasia/hypoplasia of the testes 59 32 hallmark (90%) Very frequent (99-80%) HP:0010468
14 ichthyosis 59 32 frequent (33%) Frequent (79-30%) HP:0008064
15 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
16 cutaneous photosensitivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000992
17 hernia of the abdominal wall 59 32 occasional (7.5%) Occasional (29-5%) HP:0004299
18 eczema 59 32 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:

41
Skin, Testes, Eye

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....