TTD
MCID: TRC096
MIFTS: 52

Trichothiodystrophy (TTD)

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Trichothiodystrophy

MalaCards integrated aliases for Trichothiodystrophy:

Name: Trichothiodystrophy 52 25 58 36 29 54 6 39
Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome 25
Amish Brittle Hair Syndrome 25
Bids Syndrome 25
Pibids 25
Ibids 25
Ttd 25

Characteristics:

Orphanet epidemiological data:

58
trichothiodystrophy
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile,normal life expectancy;

Classifications:

Orphanet: 58  
Rare eye diseases
Rare infertility disorders
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Trichothiodystrophy

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 33364 Definition Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins). Epidemiology The exact prevalence of TTD is unknown, but it appears to be rather uncommon. Clinical description Within the spectrum of the TTD syndromes are numerous syndromes affecting mainly organs derived from the neuroectoderm. The clinical appearance is always characterized by brittle and fragile hair, often combined with growth retardation and intellectual deficit, congenital ichthyosis and nail abnormalities, among other symptoms. The abnormalities are usually obvious at birth, with variable clinical expression. The variants of TTD, depending on their different associations, are: BIDS syndrome (or TTD type D or Amish Brittle Hair syndrome), IBIDS syndrome (or Tay syndrome or TTD typeE), PIBIDS syndrome (or TTD type F), Sabinas syndrome (TTD type B), SIBIDS syndrome, ONMRS (Itin syndrome) and Pollitt syndrome (TTD type C). Etiology About half of the patients with TTD exhibit marked photosensitivity, due to abnormalities in excision repair of ultraviolet (UV)-damaged DNA . In most cases, the deficiency in DNA excision repair is indistinguishable from that observed in Xeroderma Pigmentosum type D. In this photosensitive group of patients, the majority of cases (95% of patients) are due to mutations within the XPD (ERCC2 ) gene (localized to 19q13.2-q13.3). The remaining cases are caused by mutations within the XPB gene. These genes encode the DNA-dependent ATPase/helicase subunits of TFIIH (transcription factor). So far, no gene has been isolated for the nonphotosensitive group. Diagnostic methods The diagnostic findings of TTD are short, unruly, brittle hair, with alternating dark and light bands under polarizing microscopy (tiger-tail pattern), trichoschisis (or trichorrhexis), and an absent or defective cuticle visualized by scanning electron microscopy. Differential diagnosis TTD is a differential diagnosis in congenital alopecias. Antenatal diagnosis Prenatal diagnosis, based on measurement of DNA repair in trophoblasts or amniotic cells , is available. Genetic counseling TTD is an autosomal recessive disorder. Management and treatment There is no specific treatment. Visit the Orphanet disease page for more resources.

MalaCards based summary : Trichothiodystrophy, also known as brittle hair-intellectual impairment-decreased fertility-short stature syndrome, is related to nonphotosensitive trichothiodystrophy and trichothiodystrophy 4, nonphotosensitive. An important gene associated with Trichothiodystrophy is GTF2H5 (General Transcription Factor IIH Subunit 5), and among its related pathways/superpathways are Basal transcription factors and Gene Expression. Affiliated tissues include skin, eye and brain, and related phenotypes are coarse facial features and global developmental delay

Genetics Home Reference : 25 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. The signs and symptoms of trichothiodystrophy vary widely. Mild cases may involve only the hair. More severe cases also cause delayed development, significant intellectual disability, and recurrent infections; severely affected individuals may survive only into infancy or early childhood. Mothers of children with trichothiodystrophy may experience problems during pregnancy including pregnancy-induced high blood pressure (preeclampsia) and a related condition called HELLP syndrome that can damage the liver. Babies with trichothiodystrophy are at increased risk of premature birth, low birth weight, and slow growth. Most affected children have short stature compared to others their age. Intellectual disability and delayed development are common, although most affected individuals are highly social with an outgoing and engaging personality. Some have brain abnormalities that can be seen with imaging tests. Trichothiodystrophy is also associated with recurrent infections, particularly respiratory infections, which can be life-threatening. Other features of trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of the fingernails and toenails; clouding of the lens in both eyes from birth (congenital cataracts); poor coordination; and skeletal abnormalities. About half of all people with trichothiodystrophy have a photosensitive form of the disorder, which causes them to be extremely sensitive to ultraviolet (UV) rays from sunlight. They develop a severe sunburn after spending just a few minutes in the sun. However, for reasons that are unclear, they do not develop other sun-related problems such as excessive freckling of the skin or an increased risk of skin cancer. Many people with trichothiodystrophy report that they do not sweat.

KEGG : 36 Trichothiodystrophy (TTD) is a premature aging syndrome, with the hallmark feature of brittle hair and nails, ichthyosis, and progressive mental and physical retardation. Within photo-sensitive TTD, three TFIIH coding genes (ERCC2, ERCC3, and TTDA/GTF2H5) are implicated. Non-photosensitive trichothiodystrophy (TTDN) is characterized by short stature, intellectual impairment, sulfur-deficient brittle hair, and decreased male fertility but not cutaneous photosensitivity. Mutations in MPLKIP, RNF113A, and GTF2E2 have been reported.

Wikipedia : 74 Trichothiodystrophy (TTD) is an autosomal recessive inherited disorder characterised by brittle hair and... more...

Related Diseases for Trichothiodystrophy

Diseases related to Trichothiodystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 158)
# Related Disease Score Top Affiliating Genes
1 nonphotosensitive trichothiodystrophy 34.1 TARS1 MPLKIP
2 trichothiodystrophy 4, nonphotosensitive 34.1 RNF113A MPLKIP GTF2H5 ERCC3
3 cerebrooculofacioskeletal syndrome 1 31.4 ERCC6 ERCC5 ERCC2 ERCC1
4 skin carcinoma 30.1 XPA ERCC6 ERCC3 ERCC2
5 ichthyosis 29.8 TARS1 RNF113A MPLKIP GTF2H5 GTF2E2 ERCC6
6 xeroderma pigmentosum, complementation group e 29.6 XPA ERCC5
7 xeroderma pigmentosum-cockayne syndrome complex 29.5 ERCC5 ERCC4 ERCC3 ERCC2
8 xeroderma pigmentosum, complementation group a 29.4 XPA ERCC6 ERCC2 ERCC1
9 xeroderma pigmentosum, complementation group c 29.4 XPA ERCC6 ERCC3 ERCC1
10 autosomal recessive disease 29.4 XPA MPLKIP GTF2H5 ERCC6 ERCC3 ERCC2
11 trichothiodystrophy 1, photosensitive 29.3 XPA RNF113A MPLKIP GTF2H5 GTF2H4 GTF2H2
12 microcephaly 29.0 RNF113A ERCC6 ERCC5 ERCC4 ERCC2 ERCC1
13 cockayne syndrome a 28.9 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
14 cerebro-oculo-facio-skeletal syndrome 28.9 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
15 hutchinson-gilford progeria syndrome 28.3 XPA HELLS ERCC6 ERCC4 ERCC1
16 xeroderma pigmentosum, complementation group f 28.1 XPA ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
17 xeroderma pigmentosum, complementation group d 26.8 XPA GTF2H5 GTF2H4 GTF2H2 ERCC6 ERCC5
18 cockayne syndrome 26.6 XPA HELLS GTF2H4 GTF2H2 ERCC6 ERCC5
19 xeroderma pigmentosum, variant type 26.4 XPA MPLKIP HELLS GTF2H5 GTF2H4 GTF2H2
20 trichothiodystrophy 3, photosensitive 12.7
21 trichothiodystrophy 5, nonphotosensitive 12.7
22 trichothiodystrophy 2, photosensitive 12.7
23 trichothiodystrophy 6, nonphotosensitive 12.7
24 trichothiodystrophy 7, nonphotosensitive 12.6
25 sabinas brittle hair syndrome 12.1
26 cerebrooculofacioskeletal syndrome 2 11.5
27 cerebrooculofacioskeletal syndrome 4 11.2
28 cerebrooculofacioskeletal syndrome 3 11.2
29 mucositis 10.5
30 cataract 10.4
31 endosteal hyperostosis, autosomal dominant 10.3
32 pancreatic cancer 10.3
33 hypogonadism 10.3
34 premature aging 10.3
35 colorectal cancer 10.3
36 ataxia and polyneuropathy, adult-onset 10.2
37 erythrokeratoderma ''en cocardes'' 10.2
38 human immunodeficiency virus type 1 10.2
39 exanthem 10.2
40 paronychia 10.2
41 48,xyyy 10.2
42 strabismus 10.2
43 pre-eclampsia 10.2
44 neutropenia 10.2
45 hellp syndrome 10.2
46 mechanical strabismus 10.2
47 keratitis, hereditary 10.1
48 immune deficiency disease 10.1
49 branchiootic syndrome 1 10.1
50 nail disorder, nonsyndromic congenital, 9 10.1

Graphical network of the top 20 diseases related to Trichothiodystrophy:



Diseases related to Trichothiodystrophy

Symptoms & Phenotypes for Trichothiodystrophy

Human phenotypes related to Trichothiodystrophy:

58 31 (show top 50) (show all 93)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 58 31 occasional (7.5%) Occasional (29-5%) HP:0000280
2 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
3 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
4 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
5 carious teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000670
6 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
7 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
8 ichthyosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008064
9 photophobia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000613
10 abnormal pyramidal sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0007256
11 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
12 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
13 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
14 dry skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000958
15 cutaneous photosensitivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000992
16 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
17 joint dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001373
18 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
19 osteopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000938
20 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
21 retrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000278
22 high, narrow palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002705
23 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
24 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
25 multiple joint contractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002828
26 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
27 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
28 prematurely aged appearance 58 31 occasional (7.5%) Occasional (29-5%) HP:0007495
29 protruding ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000411
30 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
31 sparse scalp hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002209
32 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
33 dysphonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001618
34 increased bone mineral density 58 31 occasional (7.5%) Occasional (29-5%) HP:0011001
35 neutropenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001875
36 eczema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000964
37 craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001363
38 hyporeflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001265
39 hypotelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000601
40 microcornea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000482
41 partial agenesis of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001338
42 gait ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002066
43 keratoconjunctivitis sicca 58 31 occasional (7.5%) Occasional (29-5%) HP:0001097
44 ectropion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000656
45 astigmatism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000483
46 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
47 concave nail 58 31 occasional (7.5%) Occasional (29-5%) HP:0001598
48 ridged nail 58 31 occasional (7.5%) Occasional (29-5%) HP:0001807
49 dystrophic fingernails 58 31 occasional (7.5%) Occasional (29-5%) HP:0008391
50 gonadal dysgenesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000133

GenomeRNAi Phenotypes related to Trichothiodystrophy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.53 ERCC4 ERCC5 ERCC6
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.53 ERCC1 ERCC4 ERCC5 ERCC6
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.53 CCNH ERCC1 ERCC2 ERCC3 ERCC4 ERCC5

MGI Mouse Phenotypes related to Trichothiodystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.56 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 HELLS
2 mortality/aging MP:0010768 9.36 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6

Drugs & Therapeutics for Trichothiodystrophy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy Recruiting NCT00001813

Search NIH Clinical Center for Trichothiodystrophy

Genetic Tests for Trichothiodystrophy

Genetic tests related to Trichothiodystrophy:

# Genetic test Affiliating Genes
1 Trichothiodystrophy 29

Anatomical Context for Trichothiodystrophy

MalaCards organs/tissues related to Trichothiodystrophy:

40
Skin, Eye, Brain, Testes, Liver, Bone, Placenta

Publications for Trichothiodystrophy

Articles related to Trichothiodystrophy:

(show top 50) (show all 434)
# Title Authors PMID Year
1
A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A. 61 54 6
15220921 2004
2
Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. 54 61 6
11709541 2001
3
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. 61 54 6
9758621 1998
4
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder. 6 61
31793730 2020
5
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy. 6 61
31880405 2020
6
A ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repair. 6 61
29144457 2017
7
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy. 61 6
26996949 2016
8
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A. 6 61
25612912 2015
9
Pollitt syndrome patients carry mutation in TTDN1. 6 61
25606444 2014
10
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. 61 6
16977596 2007
11
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. 6 61
15645389 2005
12
A temperature-sensitive disorder in basal transcription and DNA repair in humans. 61 6
11242112 2001
13
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. 6 61
9012405 1997
14
DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient. 61 6
9195225 1997
15
Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy. 6 61
8571952 1996
16
Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy. 6 61
7920640 1994
17
Trichothiodystrophy: report of a new case with severe nervous system impairment. 61 6
1634754 1992
18
Trichothiodystrophy, mental retardation, short stature, ataxia, and gonadal dysfunction in three Moroccan siblings. 6 61
2333887 1990
19
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population. 6
31130284 2019
20
Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. 6
7849702 1994
21
"Brittle" hair with short stature, intellectual impairment and decreased fertility: an autosomal recessive syndrome in an Amish kindred. 6
4847854 1974
22
Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair. 6
5645693 1968
23
Transcription factor IIH - the protein complex with multiple functions. 61 54
20429618 2010
24
The helicase XPD unwinds bubble structures and is not stalled by DNA lesions removed by the nucleotide excision repair pathway. 54 61
19933257 2010
25
Structure, function and evolution of the XPD family of iron-sulfur-containing 5'-->3' DNA helicases. 54 61
19442249 2009
26
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene. 54 61
19085937 2009
27
Comparative study of nucleotide excision repair defects between XPD-mutated fibroblasts derived from trichothiodystrophy and xeroderma pigmentosum patients. 54 61
18817897 2008
28
p8/TTDA overexpression enhances UV-irradiation resistance and suppresses TFIIH mutations in a Drosophila trichothiodystrophy model. 54 61
19008953 2008
29
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy. 61 54
18470933 2008
30
Defective transcription/repair factor IIH recruitment to specific UV lesions in trichothiodystrophy syndrome. 54 61
18676829 2008
31
Crystal structure of the FeS cluster-containing nucleotide excision repair helicase XPD. 54 61
18578568 2008
32
Structure of the DNA repair helicase XPD. 54 61
18510925 2008
33
Solution structure and self-association properties of the p8 TFIIH subunit responsible for trichothiodystrophy. 54 61
17350038 2007
34
[DNA helicases and human diseases]. 54 61
17156731 2006
35
The DNA repair helicases XPD and FancJ have essential iron-sulfur domains. 61 54
16973432 2006
36
Characterization of ERCC3 mutations in the Chinese hamster ovary 27-1, UV24 and MMC-2 cell lines. 54 61
16143348 2006
37
Accelerated aging pathology in ad libitum fed Xpd(TTD) mice is accompanied by features suggestive of caloric restriction. 54 61
16115803 2005
38
Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome. 61 54
16135823 2005
39
Trichothiodystrophy fibroblasts are deficient in the repair of ultraviolet-induced cyclobutane pyrimidine dimers and (6-4)photoproducts. 61 54
15009740 2004
40
Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients. 61 54
12820975 2003
41
Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy. 54 61
12393803 2002
42
DNA repair and transcriptional effects of mutations in TFIIH in Drosophila development. 61 54
12221129 2002
43
Molecular characterization and developmental expression of the TFIIH factor p62 gene from Drosophila melanogaster: effects on the UV light sensitivity of a p62 mutant fly. 54 61
12509240 2002
44
Defective dendritic cell maturation in a child with nucleotide excision repair deficiency and CD4 lymphopenia. 61 54
11737070 2001
45
Effects of XPD mutations on ultraviolet-induced apoptosis in relation to skin cancer-proneness in repair-deficient syndromes. 61 54
11710928 2001
46
Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy. 54 61
11734544 2001
47
Codominance associated with overexpression of certain XPD mutations. 54 61
11182546 2001
48
Induced mutagenic effects in the nucleotide excision repair deficient Drosophila mutant mus201(D1), expressing a truncated XPG protein. 61 54
11104904 2001
49
Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder. 54 61
11062469 2000
50
TFIIH with inactive XPD helicase functions in transcription initiation but is defective in DNA repair. 61 54
10660593 2000

Variations for Trichothiodystrophy

ClinVar genetic disease variations for Trichothiodystrophy:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ERCC2 NM_000400.3(ERCC2):c.1636G>A (p.Glu546Lys)SNV Likely pathogenic 634549 rs769146546 19:45858017-45858017 19:45354759-45354759

Expression for Trichothiodystrophy

Search GEO for disease gene expression data for Trichothiodystrophy.

Pathways for Trichothiodystrophy

Pathways related to Trichothiodystrophy according to KEGG:

36
# Name Kegg Source Accession
1 Basal transcription factors hsa03022

Pathways related to Trichothiodystrophy according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 TARS1 GTF2H5 GTF2H4 GTF2H2 GTF2E2 ERCC6
2
Show member pathways
13.12 GTF2H5 GTF2H4 GTF2H2 GTF2E2 ERCC3 ERCC2
3
Show member pathways
13.06 XPA GTF2H5 GTF2H4 GTF2H2 ERCC6 ERCC5
4
Show member pathways
12.86 GTF2H5 GTF2H4 GTF2H2 GTF2E2 ERCC3 ERCC2
5
Show member pathways
12.77 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2 CCNH
6
Show member pathways
12.58 XPA GTF2H2 ERCC6 ERCC5 ERCC4 ERCC3
7
Show member pathways
12.43 XPA GTF2H5 GTF2H4 GTF2H2 ERCC6 ERCC5
8 12.38 XPA ERCC4 ERCC3 ERCC2 ERCC1 CCNH
9
Show member pathways
11.85 GTF2H5 GTF2H4 GTF2H2 ERCC6 ERCC3 ERCC2
10 11.61 XPA GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2
11
Show member pathways
11.43 XPA GTF2H5 GTF2H4 GTF2H2 ERCC6 ERCC5
12 11.1 XPA ERCC6 ERCC4 ERCC3 ERCC2 ERCC1
13
Show member pathways
11.02 ERCC4 ERCC1

GO Terms for Trichothiodystrophy

Cellular components related to Trichothiodystrophy according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.28 XPA RNF113A MPLKIP HELLS GTF2H5 GTF2H4
2 nucleoplasm GO:0005654 10.1 XPA RNF113A MPLKIP GTF2H5 GTF2H4 GTF2H2
3 nuclear speck GO:0016607 9.8 RNF113A GTF2H4 GTF2H2 GTF2E2
4 transcription factor TFIID complex GO:0005669 9.63 GTF2H5 GTF2H4 GTF2H2 GTF2E2 ERCC3 ERCC2
5 nucleotide-excision repair complex GO:0000109 9.54 ERCC5 ERCC4 ERCC1
6 nucleotide-excision repair factor 1 complex GO:0000110 9.5 XPA ERCC4 ERCC1
7 DNA replication factor A complex GO:0005662 9.48 XPA ERCC5
8 ERCC4-ERCC1 complex GO:0070522 9.46 ERCC4 ERCC1
9 core TFIIH complex portion of holo TFIIH complex GO:0000438 9.43 GTF2H4 GTF2H2
10 transcription factor TFIIH core complex GO:0000439 9.35 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2
11 transcription factor TFIIH holo complex GO:0005675 9.1 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2 CCNH

Biological processes related to Trichothiodystrophy according to GeneCards Suite gene sharing:

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 10.25 XPA RNF113A GTF2H5 GTF2H4 GTF2H2 ERCC6
2 transcription by RNA polymerase II GO:0006366 10.18 GTF2H5 GTF2H4 GTF2H2 GTF2E2 ERCC6 ERCC3
3 transcription initiation from RNA polymerase II promoter GO:0006367 10.14 GTF2H5 GTF2H4 GTF2H2 GTF2E2 ERCC3 ERCC2
4 response to UV GO:0009411 10.07 XPA GTF2H2 ERCC6 ERCC5 ERCC4 ERCC3
5 transcription elongation from RNA polymerase II promoter GO:0006368 10.06 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2 CCNH
6 global genome nucleotide-excision repair GO:0070911 10.06 XPA GTF2H5 GTF2H4 GTF2H2 ERCC4 ERCC3
7 nucleotide-excision repair, DNA incision GO:0033683 10.06 XPA GTF2H5 GTF2H4 GTF2H2 ERCC5 ERCC4
8 transcription initiation from RNA polymerase I promoter GO:0006361 10.04 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2 CCNH
9 7-methylguanosine mRNA capping GO:0006370 10.03 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2 CCNH
10 nucleotide-excision repair, preincision complex assembly GO:0006294 10.03 XPA GTF2H5 GTF2H4 GTF2H2 ERCC5 ERCC3
11 termination of RNA polymerase I transcription GO:0006363 10.02 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2 CCNH
12 transcription elongation from RNA polymerase I promoter GO:0006362 10.02 GTF2H5 GTF2H4 GTF2H2 ERCC6 ERCC3 ERCC2
13 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 10.02 XPA GTF2H5 GTF2H4 GTF2H2 ERCC5 ERCC4
14 nucleotide-excision repair, DNA duplex unwinding GO:0000717 10.01 XPA GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2
15 response to oxidative stress GO:0006979 10 XPA ERCC6 ERCC3 ERCC2 ERCC1
16 UV protection GO:0009650 9.97 XPA ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
17 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.97 XPA GTF2H5 GTF2H4 GTF2H2 ERCC5 ERCC4
18 multicellular organism growth GO:0035264 9.92 XPA ERCC6 ERCC2 ERCC1
19 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.91 XPA GTF2H5 GTF2H4 GTF2H2 ERCC5 ERCC4
20 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.83 ERCC5 ERCC4 ERCC1
21 DNA duplex unwinding GO:0032508 9.83 ERCC6 ERCC3 ERCC2
22 embryonic organ development GO:0048568 9.82 ERCC3 ERCC2 ERCC1
23 nucleotide-excision repair GO:0006289 9.81 XPA GTF2H5 GTF2H4 GTF2H2 ERCC5 ERCC4
24 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.79 XPA ERCC6 ERCC1
25 phosphorylation of RNA polymerase II C-terminal domain GO:0070816 9.78 GTF2H5 GTF2H4 CCNH
26 transcription-coupled nucleotide-excision repair GO:0006283 9.7 XPA GTF2H5 GTF2H4 GTF2H2 ERCC6 ERCC5
27 base-excision repair GO:0006284 9.67 XPA ERCC6
28 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 9.67 GTF2H5 ERCC2
29 response to X-ray GO:0010165 9.66 ERCC6 ERCC1
30 UV-damage excision repair GO:0070914 9.65 XPA ERCC1
31 hair cell differentiation GO:0035315 9.65 ERCC3 ERCC2
32 negative regulation of telomere maintenance GO:0032205 9.64 ERCC4 ERCC1
33 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.63 ERCC4 ERCC1
34 telomeric DNA-containing double minutes formation GO:0061819 9.63 ERCC4 ERCC1
35 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.62 XPA ERCC4
36 DNA repair GO:0006281 9.36 XPA RNF113A GTF2H5 GTF2H4 GTF2H2 ERCC6

Molecular functions related to Trichothiodystrophy according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.31 XPA TARS1 RNF113A MPLKIP HELLS GTF2H5
2 DNA binding GO:0003677 10.15 XPA GTF2E2 ERCC6 ERCC5 ERCC4 ERCC3
3 hydrolase activity GO:0016787 10.1 HELLS ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
4 nuclease activity GO:0004518 9.76 ERCC5 ERCC4 ERCC1
5 single-stranded DNA binding GO:0003697 9.75 ERCC5 ERCC4 ERCC1
6 helicase activity GO:0004386 9.73 HELLS ERCC6 ERCC3 ERCC2
7 protein C-terminus binding GO:0008022 9.72 ERCC6 ERCC4 ERCC3 ERCC2 ERCC1
8 endonuclease activity GO:0004519 9.71 ERCC5 ERCC4 ERCC1
9 DNA helicase activity GO:0003678 9.67 ERCC6 ERCC3 ERCC2
10 promoter-specific chromatin binding GO:1990841 9.65 ERCC4 ERCC3 ERCC1
11 damaged DNA binding GO:0003684 9.65 XPA ERCC4 ERCC3 ERCC2 ERCC1
12 protein N-terminus binding GO:0047485 9.63 GTF2H2 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
13 endodeoxyribonuclease activity GO:0004520 9.57 ERCC5 ERCC4
14 RNA polymerase II general transcription initiation factor activity GO:0016251 9.54 GTF2H4 GTF2H2 GTF2E2
15 TFIID-class transcription factor complex binding GO:0001094 9.52 ERCC4 ERCC1
16 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.51 ERCC4 ERCC1
17 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.46 ERCC4 ERCC1
18 RNA polymerase II CTD heptapeptide repeat kinase activity GO:0008353 9.35 GTF2H4 GTF2H2 ERCC3 ERCC2 CCNH
19 DNA-dependent ATPase activity GO:0008094 9.1 GTF2H4 GTF2H2 ERCC6 ERCC3 ERCC2 CCNH

Sources for Trichothiodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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