MCID: CTR153
MIFTS: 13

Cataract-Deafness-Hypogonadism Syndrome

Categories: Ear diseases, Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cataract-Deafness-Hypogonadism Syndrome

MalaCards integrated aliases for Cataract-Deafness-Hypogonadism Syndrome:

Name: Cataract-Deafness-Hypogonadism Syndrome 60
Schaap Taylor Baraitser Syndrome 74
Schaap-Taylor-Baraitser Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
cataract-deafness-hypogonadism syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C2931269
Orphanet 60 ORPHA1383
UMLS 74 C2931269

Summaries for Cataract-Deafness-Hypogonadism Syndrome

MalaCards based summary : Cataract-Deafness-Hypogonadism Syndrome, also known as schaap taylor baraitser syndrome, is related to schaap taylor baraitser syndrome. Affiliated tissues include eye, and related phenotypes are sensorineural hearing impairment and short stature

Related Diseases for Cataract-Deafness-Hypogonadism Syndrome

Diseases related to Cataract-Deafness-Hypogonadism Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 schaap taylor baraitser syndrome 12.7

Symptoms & Phenotypes for Cataract-Deafness-Hypogonadism Syndrome

Human phenotypes related to Cataract-Deafness-Hypogonadism Syndrome:

60 33 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407
2 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
3 intellectual disability, mild 60 33 frequent (33%) Frequent (79-30%) HP:0001256
4 hypogonadism 60 33 frequent (33%) Frequent (79-30%) HP:0000135
5 generalized hypertrichosis 60 33 frequent (33%) Frequent (79-30%) HP:0004554
6 developmental cataract 33 frequent (33%) HP:0000519
7 congenital cataract 60 Frequent (79-30%)

Drugs & Therapeutics for Cataract-Deafness-Hypogonadism Syndrome

Search Clinical Trials , NIH Clinical Center for Cataract-Deafness-Hypogonadism Syndrome

Genetic Tests for Cataract-Deafness-Hypogonadism Syndrome

Anatomical Context for Cataract-Deafness-Hypogonadism Syndrome

MalaCards organs/tissues related to Cataract-Deafness-Hypogonadism Syndrome:

42
Eye

Publications for Cataract-Deafness-Hypogonadism Syndrome

Variations for Cataract-Deafness-Hypogonadism Syndrome

Expression for Cataract-Deafness-Hypogonadism Syndrome

Search GEO for disease gene expression data for Cataract-Deafness-Hypogonadism Syndrome.

Pathways for Cataract-Deafness-Hypogonadism Syndrome

GO Terms for Cataract-Deafness-Hypogonadism Syndrome

Sources for Cataract-Deafness-Hypogonadism Syndrome

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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