MCID: TRC096
MIFTS: 64

Trichothiodystrophy malady

Genetic diseases, Rare diseases categories

Summaries for Trichothiodystrophy

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OMIM:47 Trichothiodystrophy (TTD) is a term introduced by Price et al. (1980) for sulfur-deficient brittle hair. Patients with... (601675) more...

MalaCards based summary: Trichothiodystrophy, also known as photosensitive trichothiodystrophy, is related to xeroderma pigmentosum, group d and cockayne syndrome, and has symptoms including autosomal recessive inheritance, hypogonadism and microcephaly. An important gene associated with Trichothiodystrophy is GTF2H5 (general transcription factor IIH, polypeptide 5), and among its related pathways are Formation of RNA Pol II elongation complex and HIV Life Cycle. The compounds cpds and ecteinascidin 743 have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and t cells, and related mouse phenotypes are pigmentation and tumorigenesis.

Genetics Home Reference:23 Trichothiodystrophy, which is commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is brittle hair that is sparse and easily broken. Tests show that the hair is lacking sulfur, an element that normally gives hair its strength.

NIH Rare Diseases:43 Tay syndrome is a rare genetic disorder characterized by congenital ichthyosis (dry, fish-like scaly skin present at birth) and abnormal brittle hair (trichothiodystrophy). last updated: 7/30/2013

Wikipedia:65 Trichothiodystrophy (TTD) is an autosomal recessive inherited disorder characterised by brittle hair and... more...

Aliases & Classifications for Trichothiodystrophy

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Trichothiodystrophy, Aliases & Descriptions:

Name: Trichothiodystrophy 47 10 11 23 45
Photosensitive Trichothiodystrophy 10 43 12
Trichothiodystrophy with Congenital Ichthyosis 10 43
Trichothiodystrophy Photosensitive 43 24
Ibids Syndrome 10 43
Tay Syndrome 10 43
Ichtyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature 43
Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome 23
Trichothiodystrophy with Congenital Ichtyosis 43
 
Trichothiodystrophy, Complementation Group a 47
Sulfur-Deficient Brittle Hair Syndrome 10
Amish Brittle Hair Syndrome 23
Trichothiodystrophy Type E 43
Bids Syndrome 23
Pibids 23
Ibids 23
Ttdp 43
Ttd 23


Classifications:

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


External Ids:

OMIM47 601675
Disease Ontology10 DOID:2960
SNOMED-CT57 403796005
MeSH35 C536559
NCIt40 C4924

Related Diseases for Trichothiodystrophy

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Graphical network of the top 20 diseases related to Trichothiodystrophy:



Diseases related to trichothiodystrophy

Symptoms for Trichothiodystrophy

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Symptoms by clinical synopsis from OMIM:

601675

Clinical features from OMIM:

601675

HPO human phenotypes related to Trichothiodystrophy:

(show all 20)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hypogonadism HP:0000135
3 microcephaly HP:0000252
4 abnormality of the face HP:0000271
5 cataract HP:0000518
6 abnormality of the thorax HP:0000765
7 cutaneous photosensitivity HP:0000992
8 erythroderma HP:0001019
9 intellectual disability HP:0001249
10 flexion contracture HP:0001371
11 small for gestational age HP:0001518
12 fragile nails HP:0001808
13 asthma HP:0002099
14 brittle hair HP:0002299
15 recurrent infections HP:0002719
16 igg deficiency HP:0004315
17 short stature HP:0004322
18 intestinal obstruction HP:0005214
19 congenital nonbullous ichthyosiform erythroderma HP:0007479
20 lack of subcutaneous fatty tissue HP:0007519

Drugs & Therapeutics for Trichothiodystrophy

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Drug clinical trials:

Search ClinicalTrials for Trichothiodystrophy

Search NIH Clinical Center for Trichothiodystrophy

Genetic Tests for Trichothiodystrophy

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Genetic tests related to Trichothiodystrophy:

id Genetic test Affiliating Genes
1 Trichothiodystrophy Photosensitive24

Anatomical Context for Trichothiodystrophy

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MalaCards organs/tissues related to Trichothiodystrophy:

33
Skin, Testes, T cells

Animal Models for Trichothiodystrophy or affiliated genes

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MGI Mouse Phenotypes related to Trichothiodystrophy:

37 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9CDK7, ERCC2, XPA
2MP:00020068.6XPC, XPA, ERCC2, ERCC3, ERCC6
3MP:00053798.5CDK7, ERCC3, ERCC2, XPA
4MP:00053758.5XPA, ERCC2, ERCC6, CDK7
5MP:00053708.5XPA, ERCC5, ERCC4, ERCC6
6MP:00053918.4XPC, XPA, ERCC2, ERCC6
7MP:00053868.3ERCC6, ERCC3, ERCC2, XPA, XPC
8MP:00053908.1CDK7, ERCC6, ERCC3, ERCC2, XPA
9MP:00053977.8XPA, ERCC5, ERCC2, ERCC6, CDK7
10MP:00107717.3XPC, XPA, ERCC5, ERCC2, ERCC3, ERCC6
11MP:00053847.1XPC, XPA, ERCC2, ERCC4, ERCC3, ERCC6
12MP:00053786.6XPC, XPA, ERCC5, ERCC2, ERCC4, ERCC3
13MP:00107686.3CDK7, XPC, XPA, ERCC5, ERCC2, ERCC4

Publications for Trichothiodystrophy

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Articles related to Trichothiodystrophy:

(show top 50)    (show all 62)
idTitleAuthorsYear
1
Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum. (23232694)
2013
2
Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum. (22617342)
2012
3
Trichothiodystrophy with dysmyelination and central osteosclerosis. (20075106)
2010
4
Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development. (20002457)
2010
5
Trichothiodystrophy view from the molecular basis of DNA repair/transcription factor TFIIH. (19808800)
2009
6
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene. (19085937)
2009
7
Trichothiodystrophy and fragile hair: the distinction between diagnostic signs and diagnostic labels in childhood hair disease. (19754869)
2009
8
Defective transcription/repair factor IIH recruitment to specific UV lesions in trichothiodystrophy syndrome. (18676829)
2008
9
Xeroderma pigmentosum: its overlap with trichothiodystrophy, Cockayne syndrome and other progeroid syndromes. (19181118)
2008
10
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. (18329345)
2008
11
Comparative study of nucleotide excision repair defects between XPD-mutated fibroblasts derived from trichothiodystrophy and xeroderma pigmentosum patients. (18817897)
2008
12
p8/TTDA overexpression enhances UV-irradiation resistance and suppresses TFIIH mutations in a Drosophila trichothiodystrophy model. (19008953)
2008
13
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy. (18470933)
2008
14
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. (17276014)
2007
15
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. (16977596)
2007
16
Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles. (17020410)
2006
17
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. (15645389)
2005
18
PIBIDS syndrome (trichothiodystrophy type F) and skin cancer: an exceptional association. (15144394)
2004
19
Trichothiodystrophy fibroblasts are deficient in the repair of ultraviolet-induced cyclobutane pyrimidine dimers and (6-4)photoproducts. (15009740)
2004
20
Central osteosclerosis with trichothiodystrophy. (15148554)
2004
21
DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. (14726016)
2003
22
Efficient repair of cyclobutane pyrimidine dimers at mutational hot spots is restored in complemented Xeroderma pigmentosum group C and trichothiodystrophy/xeroderma pigmentosum group D cells. (12948486)
2003
23
Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients. (12820975)
2003
24
Restriction in T-cell receptor repertoire in a patient affected by trichothiodystrophy and CD4+ lymphopenia. (12121441)
2002
25
Restoration of nucleotide excision repair in a helicase-deficient XPD mutant from intragenic suppression by a trichothiodystrophy mutation. (11585917)
2001
26
Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. (11709541)
2001
27
Trichothiodystrophy, a transcription syndrome. (11335038)
2001
28
Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes. (11369901)
2001
29
The cancer-free phenotype in trichothiodystrophy is unrelated to its repair defect. (10667598)
2000
30
Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder. (11062469)
2000
31
The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes. (10332046)
1999
32
Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition. (10416615)
1999
33
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. (10447254)
1999
34
A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy. (9651581)
1998
35
Mutations in XPD helicase prevent its interaction and regulation by p44, another subunit of TFIIH, resulting in Xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) phenotypes. (9885814)
1998
36
Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity. (9758621)
1998
37
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. (9238033)
1997
38
Prolonged p53 protein accumulation in trichothiodystrophy fibroblasts dependent on unrepaired pyrimidine dimers on the transcribed strands of cellular genes. (9433478)
1997
39
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. (9012405)
1997
40
DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient. (9195225)
1997
41
Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy: do the genes explain the diseases? (8984734)
1996
42
Lethality in yeast of trichothiodystrophy (TTD) mutations in the human xeroderma pigmentosum group D gene. Implications for transcriptional defect in TTD. (7629061)
1995
43
Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy. (7920640)
1994
44
Trichothiodystrophy: clinical spectrum, central nervous system imaging, and biochemical characterization of two siblings. (7963680)
1994
45
Correction by the ERCC2 gene of UV sensitivity and repair deficiency phenotype in a subset of trichothiodystrophy cells. (8055625)
1994
46
A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy. (8213812)
1993
47
UV-induced mutations in a shuttle vector replicated in repair deficient trichothiodystrophy cells differ with those in genetically-related cancer prone xeroderma pigmentosum. (8392442)
1993
48
Immune defects in families and patients with xeroderma pigmentosum and trichothiodystrophy. (1535035)
1992
49
Striking differences in cellular catalase activity between two DNA repair-deficient diseases: xeroderma pigmentosum and trichothiodystrophy. (1547519)
1992
50
The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy. (1372108)
1992

Variations for Trichothiodystrophy

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UniProtKB/Swiss-Prot genetic disease variations for Trichothiodystrophy:

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

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Search GEO for disease gene expression data for Trichothiodystrophy.

Pathways for genes affiliated with Trichothiodystrophy

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Pathways related to Trichothiodystrophy according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.9ERCC2, ERCC3, CDK7
2
Show member pathways
8.9ERCC2, ERCC3, CDK7
38.6ERCC2, ERCC3, GTF2H5, CDK7
4
Show member pathways
8.6ERCC5, ERCC2, ERCC4, ERCC3
5
Show member pathways
8.6CDK7, GTF2H5, ERCC3, ERCC2
68.6GTF2H5, ERCC3, ERCC2, XPA, XPC
7
Show member pathways
8.5CDK7, ERCC3, ERCC2, XPC
8
Show member pathways
8.4ERCC2, ERCC3, ERCC6, CDK7
9
Show member pathways
8.4CDK7, ERCC6, ERCC3, ERCC2
10
Show member pathways
8.4CDK7, ERCC6, ERCC3, ERCC2
11
Show member pathways
6.4XPC, XPA, ERCC5, ERCC2, ERCC4, ERCC3
12
Show member pathways
6.1CDK7, XPC, GTF2H5, ERCC6, ERCC3, ERCC4

Compounds for genes affiliated with Trichothiodystrophy

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Compounds related to Trichothiodystrophy according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1cpds459.9ERCC3, XPA
2ecteinascidin 743459.8ERCC2, ERCC5
32-acetylaminofluorene459.7XPA, XPC
4phosphodiester459.6ERCC3, ERCC5
5thymine glycol459.6ERCC5, ERCC6
6platinum45 5110.6ERCC5, ERCC2
7psoralen459.6XPA, ERCC4
8benzo(a)pyrene459.5XPA, XPC
9mitomycin c459.4ERCC4, XPA
10oxaliplatin45 51 1311.4ERCC2, XPA
11melphalan45 51 1311.4ERCC2, ERCC4, ERCC3
12cisplatin45 51 61 1311.0ERCC3, ERCC4, ERCC2, ERCC5, XPA, XPC
13atp45 308.6XPC, XPA, ERCC5, ERCC3, ERCC6, CDK7

GO Terms for genes affiliated with Trichothiodystrophy

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Cellular components related to Trichothiodystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1SSL2-core TFIIH complexGO:00004419.7ERCC2, ERCC3
2holo TFIIH complexGO:00056758.5CDK7, ERCC3, ERCC2, ERCC5
3nucleolusGO:00057308.2ERCC6, ERCC3, ERCC5, XPA, XPC
4nucleoplasmGO:00056546.4XPC, XPA, ERCC5, ERCC2, ERCC4, ERCC3
5nucleusGO:00056346.1XPC, XPA, ERCC5, ERCC2, ERCC4, ERCC3

Biological processes related to Trichothiodystrophy according to GeneCards/GeneDecks:

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1hair cell differentiationGO:003531510.0ERCC3, ERCC2
2response to UV-BGO:00102249.7ERCC6, XPC
3regulation of mitotic cell cycle phase transitionGO:019019909.7XPC, ERCC2, ERCC3
4nucleotide-excision repair, DNA incision, 3-to lesionGO:00062959.6ERCC5, ERCC4
5nucleotide-excision repair, DNA incisionGO:00336839.5ERCC2, ERCC4, ERCC3
6intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.4ERCC6, XPA
7multicellular organism growthGO:00352649.4ERCC6, ERCC2, XPA
8DNA catabolic process, endonucleolyticGO:00007379.3ERCC4, ERCC5
9transcription elongation from RNA polymerase I promoterGO:00063629.3ERCC2, ERCC3, CDK7
10termination of RNA polymerase I transcriptionGO:00063639.2CDK7, ERCC3, ERCC2
11transcription initiation from RNA polymerase I promoterGO:00063619.2ERCC2, ERCC3, CDK7
127-methylguanosine mRNA cappingGO:00063709.2ERCC2, ERCC3, CDK7
13transcription from RNA polymerase I promoterGO:00063609.2ERCC2, ERCC3, CDK7
14positive regulation of viral transcriptionGO:00504349.2CDK7, ERCC3, ERCC2
15response to toxic substanceGO:00096369.2XPA, ERCC6
16transcription elongation from RNA polymerase II promoterGO:00063689.2ERCC2, ERCC3, CDK7
17response to oxidative stressGO:00069799.1ERCC6, ERCC3, ERCC2, XPA
18transcription initiation from RNA polymerase II promoterGO:00063679.0ERCC2, ERCC3, CDK7
19UV protectionGO:00096509.0ERCC5, ERCC2, ERCC4, ERCC3
20viral processGO:00160328.9CDK7, ERCC3, ERCC2
21ATP catabolic processGO:00062008.9CDK7, ERCC6, ERCC2
22transcription from RNA polymerase II promoterGO:00063668.6ERCC2, ERCC3, ERCC6, CDK7
23response to UVGO:00094118.3XPA, ERCC5, ERCC4, ERCC3, ERCC6
24transcription-coupled nucleotide-excision repairGO:00062837.6ERCC5, ERCC2, ERCC4, ERCC3, ERCC6, CDK7
25nucleotide-excision repair, DNA damage removalGO:00007187.3CDK7, ERCC3, ERCC4, ERCC2, ERCC5, XPA
26DNA repairGO:00062816.8ERCC5, XPA, XPC, ERCC2, ERCC4, ERCC3
27nucleotide-excision repairGO:00062896.5CDK7, GTF2H5, ERCC6, ERCC3, ERCC4, ERCC2

Molecular functions related to Trichothiodystrophy according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1bubble DNA bindingGO:00004059.7ERCC5, XPC
2ATP-dependent DNA helicase activityGO:00040039.5ERCC3, ERCC2
3endodeoxyribonuclease activityGO:00045209.4ERCC4, ERCC5
4RNA polymerase II carboxy-terminal domain kinase activityGO:00083539.1CDK7, ERCC3, ERCC2
5single-stranded DNA bindingGO:00036979.1XPC, ERCC5, ERCC4
6protein kinase activityGO:00046728.8ERCC2, ERCC3, CDK7
7damaged DNA bindingGO:00036848.8XPC, XPA, ERCC4, ERCC3
8DNA-dependent ATPase activityGO:00080948.7ERCC2, ERCC3, ERCC6, CDK7
9ATP bindingGO:00055248.4CDK7, ERCC6, ERCC3, ERCC2
10protein N-terminus bindingGO:00474858.3ERCC6, ERCC3, ERCC4, ERCC2, ERCC5
11protein C-terminus bindingGO:00080228.0ERCC2, ERCC4, ERCC3, ERCC6, CDK7
12protein bindingGO:00055156.4XPC, XPA, ERCC5, ERCC2, ERCC4, ERCC3

Products for genes affiliated with Trichothiodystrophy

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Sources for Trichothiodystrophy

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
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30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
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48OMIM via Orphanet
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