MCID: TRC100
MIFTS: 18

Trichothiodystrophy 3, Photosensitive malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Mental diseases

Aliases & Classifications for Trichothiodystrophy 3, Photosensitive

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Aliases & Descriptions for Trichothiodystrophy 3, Photosensitive:

Name: Trichothiodystrophy 3, Photosensitive 50 23 68 25
Trichothiodystrophy, Complementation Group a 68
 
Ttda 68
Ttd3 68

Characteristics:

HPO:

62
trichothiodystrophy 3, photosensitive:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 616395
MedGen35 CN230763
MeSH37 D054463

Summaries for Trichothiodystrophy 3, Photosensitive

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OMIM:50 Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that... (616395) more...

MalaCards based summary: Trichothiodystrophy 3, Photosensitive, also known as trichothiodystrophy, complementation group a, is related to trichothiodystrophy 1, photosensitive, and has symptoms including decreased fertility, cataract and erythroderma. An important gene associated with Trichothiodystrophy 3, Photosensitive is GTF2H5 (General Transcription Factor IIH Subunit 5).

UniProtKB/Swiss-Prot:68 Trichothiodystrophy 3, photosensitive: A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder.

Related Diseases for Trichothiodystrophy 3, Photosensitive

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Diseases in the Trichothiodystrophy 2, Photosensitive family:

trichothiodystrophy 3, photosensitive Trichothiodystrophy 1, Photosensitive

Diseases related to Trichothiodystrophy 3, Photosensitive via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1trichothiodystrophy 1, photosensitive10.0

Symptoms for Trichothiodystrophy 3, Photosensitive

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Clinical features from OMIM:

616395

HPO human phenotypes related to Trichothiodystrophy 3, Photosensitive:

(show all 10)
id Description Frequency HPO Source Accession
1 decreased fertility HP:0000144
2 cataract HP:0000518
3 erythroderma HP:0001019
4 intellectual disability HP:0001249
5 asthma HP:0002099
6 brittle hair HP:0002299
7 short stature HP:0004322
8 congenital nonbullous ichthyosiform erythroderma HP:0007479
9 joint contracture of the hand HP:0009473
10 tiger tail banding HP:0045055

Drugs & Therapeutics for Trichothiodystrophy 3, Photosensitive

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Trichothiodystrophy 3, Photosensitive

Genetic Tests for Trichothiodystrophy 3, Photosensitive

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Genetic tests related to Trichothiodystrophy 3, Photosensitive:

id Genetic test Affiliating Genes
1 Trichothiodystrophy 3, Photosensitive25 23 GTF2H5

Anatomical Context for Trichothiodystrophy 3, Photosensitive

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Animal Models for Trichothiodystrophy 3, Photosensitive or affiliated genes

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Publications for Trichothiodystrophy 3, Photosensitive

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Variations for Trichothiodystrophy 3, Photosensitive

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UniProtKB/Swiss-Prot genetic disease variations for Trichothiodystrophy 3, Photosensitive:

68
id Symbol AA change Variation ID SNP ID
1GTF2H5p.Leu21ProVAR_022647rs121434365

Expression for genes affiliated with Trichothiodystrophy 3, Photosensitive

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Search GEO for disease gene expression data for Trichothiodystrophy 3, Photosensitive.

Pathways for genes affiliated with Trichothiodystrophy 3, Photosensitive

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GO Terms for genes affiliated with Trichothiodystrophy 3, Photosensitive

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Sources for Trichothiodystrophy 3, Photosensitive

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet