MCID: TRC068
MIFTS: 21

Trichothiodystrophy, Complementation Group a malady

Genetic diseases (common) category
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Summaries for Trichothiodystrophy, Complementation Group a

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47OMIM, 33MalaCards
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MalaCards: Trichothiodystrophy, Complementation Group a is related to hepatitis b and xeroderma pigmentosum, group d. An important gene associated with Trichothiodystrophy, Complementation Group a is GTF2H5 (general transcription factor IIH, polypeptide 5), and among its related pathways are Chromatin Regulation / Acetylation and Chks in Checkpoint Regulation. The compound melphalan have been mentioned in the context of this disorder.

Description from OMIM:47 601675

Aliases & Classifications for Trichothiodystrophy, Complementation Group a

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47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

trichothiodystrophy, complementation group a 47


Related Diseases for Trichothiodystrophy, Complementation Group a

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17GeneCards, 18GeneDecks
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Diseases related to Trichothiodystrophy, Complementation Group a via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hepatitis b10.0ERCC3, ERCC2
2xeroderma pigmentosum, group d10.0ERCC3, ERCC2
3skin benign neoplasm9.9ERCC3, ERCC2
4photosensitive trichothiodystrophy9.9ERCC2, ERCC3, GTF2H5
5cockayne syndrome9.9GTF2H5, ERCC3, ERCC2
6xeroderma pigmentosum9.9ERCC2, ERCC3, GTF2H5

Graphical network of diseases related to Trichothiodystrophy, Complementation Group a:



Diseases related to trichothiodystrophy, complementation group a

Symptoms for Trichothiodystrophy, Complementation Group a

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47OMIM
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Clinical features from OMIM:

601675

Drugs & Therapeutics for Trichothiodystrophy, Complementation Group a

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Trichothiodystrophy, Complementation Group a

Search NIH Clinical Center for Trichothiodystrophy, Complementation Group a

Genetic Tests for Trichothiodystrophy, Complementation Group a

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Anatomical Context for Trichothiodystrophy, Complementation Group a

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Animal Models for Trichothiodystrophy, Complementation Group a or affiliated genes

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Publications for Trichothiodystrophy, Complementation Group a

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Variations for Trichothiodystrophy, Complementation Group a

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64UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Trichothiodystrophy, Complementation Group a:

64 (show all 17)
id Symbol AA change Variation ID SNP ID
1ERCC2p.Arg112HisVAR_003622
2ERCC2p.Leu461ValVAR_003623
3ERCC2p.Arg616ProVAR_003626
4ERCC2p.Arg722TrpVAR_003630
5ERCC2p.Ala725ProVAR_003631
6ERCC2p.Cys259TyrVAR_008189
7ERCC2p.Arg658CysVAR_008194
8ERCC2p.Arg658HisVAR_008195
9ERCC2p.Asp673GlyVAR_008196
10ERCC2p.Gly713ArgVAR_008199
11ERCC2p.Arg487GlyVAR_017284
12ERCC2p.Arg592ProVAR_017287
13ERCC2p.Ala594ProVAR_017288
14ERCC2p.Arg658GlyVAR_017290
15ERCC2p.Cys663ArgVAR_017291
16ERCC3p.Thr119ProVAR_008186
17GTF2H5p.Leu21ProVAR_022647

Expression for genes affiliated with Trichothiodystrophy, Complementation Group a

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Trichothiodystrophy, Complementation Group a

Search GEO for disease gene expression data for Trichothiodystrophy, Complementation Group a.

Pathways for genes affiliated with Trichothiodystrophy, Complementation Group a

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Sources:
50PathCards, 5Cell Signaling Technology, 53QIAGEN, 55Reactome, 38NCBI BioSystems Database, 60Thomson Reuters, 30KEGG
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Pathways related to Trichothiodystrophy, Complementation Group a according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1ERCC3, ERCC2
2
Show member pathways
9.1ERCC3, ERCC2
3
Show member pathways
9.1ERCC2, ERCC3
4
Show member pathways
9.1ERCC3, ERCC2
5
Show member pathways
9.1ERCC2, ERCC3
6
Show member pathways
9.1ERCC3, ERCC2
7
Show member pathways
9.1ERCC2, ERCC3
88.5ERCC3, GTF2H5, ERCC2
9
Show member pathways
8.5ERCC2, GTF2H5, ERCC3
10
Show member pathways
8.5GTF2H5, ERCC2, ERCC3
118.5GTF2H5, ERCC3, ERCC2

Compounds for genes affiliated with Trichothiodystrophy, Complementation Group a

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Sources:
45Novoseek, 51PharmGKB, 11DrugBank
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Compounds related to Trichothiodystrophy, Complementation Group a according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1melphalan45 51 1111.1ERCC3, ERCC2

GO Terms for genes affiliated with Trichothiodystrophy, Complementation Group a

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16Gene Ontology
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Cellular components related to Trichothiodystrophy, Complementation Group a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1holo TFIIH complexGO:0056759.1ERCC3, ERCC2
2SSL2-core TFIIH complexGO:0004418.8ERCC3, ERCC2

Biological processes related to Trichothiodystrophy, Complementation Group a according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1regulation of mitotic cell cycle phase transitionGO:19019909.5ERCC2, ERCC3
2nucleotide-excision repair, DNA incisionGO:0336839.4ERCC2, ERCC3
3hair cell differentiationGO:0353159.4ERCC3, ERCC2
4UV protectionGO:0096509.4ERCC2, ERCC3
5nucleotide-excision repair, DNA damage removalGO:0007189.4ERCC3, ERCC2
6transcription elongation from RNA polymerase I promoterGO:0063629.4ERCC3, ERCC2
7termination of RNA polymerase I transcriptionGO:0063639.4ERCC2, ERCC3
8transcription initiation from RNA polymerase I promoterGO:0063619.4ERCC3, ERCC2
97-methylguanosine mRNA cappingGO:0063709.4ERCC2, ERCC3
10transcription from RNA polymerase I promoterGO:0063609.3ERCC2, ERCC3
11positive regulation of viral transcriptionGO:0504349.3ERCC3, ERCC2
12transcription-coupled nucleotide-excision repairGO:0062839.3ERCC3, ERCC2
13transcription elongation from RNA polymerase II promoterGO:0063689.2ERCC3, ERCC2
14response to oxidative stressGO:0069799.2ERCC2, ERCC3
15response to hypoxiaGO:0016669.1ERCC3, ERCC2
16transcription from RNA polymerase II promoterGO:0063669.1ERCC3, ERCC2
17transcription initiation from RNA polymerase II promoterGO:0063679.0ERCC3, ERCC2
18nucleotide-excision repairGO:0062898.8GTF2H5, ERCC3, ERCC2
19DNA repairGO:0062818.8ERCC3, ERCC2

Molecular functions related to Trichothiodystrophy, Complementation Group a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II carboxy-terminal domain kinase activityGO:0083539.2ERCC3, ERCC2
2ATP-dependent DNA helicase activityGO:0040039.2ERCC3, ERCC2
3DNA-dependent ATPase activityGO:0080949.1ERCC3, ERCC2
4protein kinase activityGO:0046729.1ERCC3, ERCC2
5protein N-terminus bindingGO:0474859.0ERCC2, ERCC3
6protein C-terminus bindingGO:0080228.8ERCC3, ERCC2

Products for genes affiliated with Trichothiodystrophy, Complementation Group a

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  • Antibodies
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Sources for Trichothiodystrophy, Complementation Group a

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet