MCID: TRC100
MIFTS: 21

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 49 22 67
Trichothiodystrophy, Complementation Group a 67
 
Ttda 67
Ttd3 67

Characteristics:

HPO:

61
trichothiodystrophy 3, photosensitive:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 616395
MedGen34 CN230763
MeSH36 D054463

Summaries for Trichothiodystrophy 3, Photosensitive

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OMIM:49 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). Affiliated tissues include skin, prostate and endothelial.

UniProtKB/Swiss-Prot:67 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, Photosensitive22 GTF2H5

Anatomical Context for Trichothiodystrophy 3, Photosensitive

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MalaCards organs/tissues related to Trichothiodystrophy 3, Photosensitive:

33
Skin, Prostate, Endothelial

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:

67
id Symbol AA change Variation ID SNP ID
1GTF2H5p.Leu21ProVAR_022647

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet