MCID: TRC100
MIFTS: 17

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 51 24 69 26
Trichothiodystrophy, Complementation Group a 69
 
Ttda 69
Ttd3 69

Characteristics:

HPO:

63
trichothiodystrophy 3, photosensitive:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 616395
MedGen36 CN230763
MeSH38 D054463

Summaries for Trichothiodystrophy 3, Photosensitive

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OMIM:51 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:69 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, photosensitive10.9

Symptoms for Trichothiodystrophy 3, Photosensitive

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Clinical features from OMIM:

616395

Human phenotypes related to Trichothiodystrophy 3, Photosensitive:

 63 (show all 10)
id Description HPO Frequency HPO Source Accession
1 decreased fertility63 HP:0000144
2 cataract63 HP:0000518
3 erythroderma63 HP:0001019
4 intellectual disability63 HP:0001249
5 asthma63 HP:0002099
6 brittle hair63 HP:0002299
7 short stature63 HP:0004322
8 congenital nonbullous ichthyosiform erythroderma63 HP:0007479
9 joint contracture of the hand63 HP:0009473
10 tiger tail banding63 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, Photosensitive26 24 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:

69
id Symbol AA change Variation ID SNP ID
1GTF2H5p.Leu21ProVAR_022647rs121434365

Clinvar genetic disease variations for Trichothiodystrophy 3, Photosensitive:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GTF2H5NM_207118.2(GTF2H5): c.166C> T (p.Arg56Ter)SNVPathogenicrs121434364GRCh37Chr 6, 158613139: 158613139

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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet