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 52 24 70 27
Trichothiodystrophy, Complementation Group a 70
 
Ttda 70
Ttd3 70

Characteristics:

HPO:

64
trichothiodystrophy 3, photosensitive:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 616395
MedGen37 CN230763
MeSH39 D054463

Summaries for Trichothiodystrophy 3, Photosensitive

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OMIM:52 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:70 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 & Phenotypes for Trichothiodystrophy 3, Photosensitive

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Clinical features from OMIM:

616395

Human phenotypes related to Trichothiodystrophy 3, Photosensitive:

 64 (show all 10)
id Description HPO Frequency HPO Source Accession
1 decreased fertility64 HP:0000144
2 cataract64 HP:0000518
3 erythroderma64 HP:0001019
4 intellectual disability64 HP:0001249
5 asthma64 HP:0002099
6 brittle hair64 HP:0002299
7 short stature64 HP:0004322
8 congenital nonbullous ichthyosiform erythroderma64 HP:0007479
9 joint contracture of the hand64 HP:0009473
10 tiger tail banding64 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, Photosensitive27 24 GTF2H5

Anatomical Context for Trichothiodystrophy 3, Photosensitive

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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:

70
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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet