TTD
MCID: TRC096
MIFTS: 55

Trichothiodystrophy (TTD)

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases
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Aliases & Classifications for Trichothiodystrophy

MalaCards integrated aliases for Trichothiodystrophy:

Name: Trichothiodystrophy 11 19 42 58 75 28 53 5 14
Ttd 11 42
Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome 42
Trichothiodystrophy Syndromes 43
Amish Brittle Hair Syndrome 42
Bids Syndrome 42
Pibids 42
Ibids 42

Characteristics:


Inheritance:

Autosomal recessive,X-linked recessive 58

Prevelance:

1-9/1000000 (Europe) 58

Age Of Onset:

Infancy,Neonatal 58

Classifications:

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


Summaries for Trichothiodystrophy

MedlinePlus Genetics: 42 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.

MalaCards based summary: Trichothiodystrophy, also known as ttd, is related to trichothiodystrophy 1, photosensitive and trichothiodystrophy 3, photosensitive. An important gene associated with Trichothiodystrophy is ERCC2 (ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit), and among its related pathways/superpathways are Disease and Processing of Capped Intron-Containing Pre-mRNA. Affiliated tissues include skin, eye and liver, and related phenotypes are spasticity and abnormal pyramidal sign

GARD: 19 A heterogeneous group disorders characterised by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins). The abnormalities are usually obvious at birth, with variable clinical expression. Trichothiodystrophy is an autosomal recessive disorder. In the photosensitive group 95% have mutations within the XPD (ERCC2) gene (localised to 19q13.2-q13.3). The remaining cases are caused by mutations within the XPB gene. So far, no gene has been isolated for the nonphotosensitive group. The variants of Trichothiodystrophy depending on their different associations are: BIDS syndrome, IBIDS syndrome, PIBIDS syndrome, Sabinas syndrome, SIBIDS syndrome, Itin syndrome and Pollitt syndrome.

Orphanet: 58 A rare, genetic, syndromic hair shaft abnormality disorder characterized by short, dry, sulfur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.

Disease Ontology: 11 A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections.

Wikipedia: 75 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 191)
# Related Disease Score Top Affiliating Genes
1 trichothiodystrophy 1, photosensitive 33.3 MPLKIP GTF2H5 ERCC3 ERCC2
2 trichothiodystrophy 3, photosensitive 33.0 MPLKIP GTF2H5 GTF2H4 GTF2H2 ERCC6 ERCC3
3 trichothiodystrophy 2, photosensitive 33.0 ERCC3 ERCC2
4 nonphotosensitive trichothiodystrophy 32.7 RNF113A MPLKIP
5 cerebrooculofacioskeletal syndrome 1 32.0 GTF2H2 ERCC6 ERCC5 ERCC3 ERCC2 ERCC1
6 cerebrooculofacioskeletal syndrome 2 32.0 ERCC6 ERCC2
7 ichthyosis 31.5 RNF113A MPLKIP GTF2H5 GTF2E2 ERCC3 ERCC2
8 photoparoxysmal response 1 31.5 XPA ERCC6
9 xeroderma pigmentosum, variant type 31.4 XPA MPLKIP HELLS GTF2H5 GTF2H4 GTF2H2
10 xeroderma pigmentosum, complementation group d 31.3 XPA GTF2H5 ERCC3 ERCC2 ERCC1 CDK7
11 skin carcinoma 31.2 XPA ERCC6 ERCC3 ERCC2
12 cockayne syndrome 31.0 XPA HELLS GTF2H4 GTF2H2 ERCC6 ERCC5
13 xeroderma pigmentosum, complementation group a 30.7 XPA ERCC6 ERCC4 ERCC3 ERCC2 ERCC1
14 xeroderma pigmentosum, complementation group c 30.7 XPA ERCC6 ERCC3 ERCC2 ERCC1
15 microcephaly 30.6 RNF113A MARS1 ERCC6 ERCC5 ERCC4 ERCC2
16 cockayne syndrome a 30.4 XPA GTF2H5 ERCC6 ERCC4 ERCC3 ERCC2
17 lynch syndrome 30.3 XPA ERCC6 ERCC2 ERCC1
18 xeroderma pigmentosum-cockayne syndrome complex 30.3 ERCC5 ERCC4 ERCC3 ERCC2
19 xeroderma pigmentosum group e 30.3 XPA GTF2H5 ERCC6
20 cerebrooculofacioskeletal syndrome 30.2 XPA MPLKIP GTF2H5 ERCC6 ERCC5 ERCC4
21 aplastic anemia 30.2 XPA ERCC6 ERCC4 ERCC2 ERCC1
22 xeroderma pigmentosum, complementation group f 30.2 XPA ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
23 xeroderma pigmentosum, complementation group b 30.2 XPA GTF2H5 GTF2H2 ERCC6 ERCC3 ERCC2
24 uv-sensitive syndrome 30.2 XPA MPLKIP GTF2H5 ERCC6 ERCC5 ERCC4
25 basal cell carcinoma 30.1 XPA ERCC6 ERCC2 ERCC1
26 xeroderma pigmentosum, complementation group e 30.1 XPA ERCC5
27 xeroderma pigmentosum, complementation group g 30.1 XPA GTF2H5 GTF2H4 GTF2H2 ERCC6 ERCC5
28 trichothiodystrophy 4, nonphotosensitive 11.7
29 trichothiodystrophy 5, nonphotosensitive 11.6
30 trichothiodystrophy 7, nonphotosensitive 11.5
31 trichothiodystrophy 8, nonphotosensitive 11.5
32 trichothiodystrophy 6, nonphotosensitive 11.5
33 trichothiodystrophy 9, nonphotosensitive 11.5
34 sabinas brittle hair syndrome 11.3
35 cerebrooculofacioskeletal syndrome 4 10.9
36 cerebrooculofacioskeletal syndrome 3 10.9
37 parkinsonism with spasticity, x-linked 10.4 GTF2H2 ERCC3 ERCC2
38 skin benign neoplasm 10.4 XPA ERCC3 ERCC2
39 rothmund-thomson syndrome, type 2 10.4 HELLS ERCC6 ERCC3 ERCC2
40 charcot-marie-tooth disease, axonal, type 2w 10.4 MARS1 AARS1
41 de sanctis-cacchione syndrome 10.4 XPA GTF2H5 ERCC6 ERCC3 ERCC2
42 charcot-marie-tooth disease, axonal, type 2u 10.4 MARS1 AARS1
43 usher syndrome, type iiib 10.4 MARS1 AARS1
44 fanconi anemia, complementation group q 10.4 ERCC6 ERCC4
45 charcot-marie-tooth disease, recessive intermediate b 10.4 MARS1 AARS1
46 cockayne syndrome b 10.4 XPA ERCC6 ERCC3 ERCC2 ERCC1
47 antisynthetase syndrome 10.4 TARS1 AARS1
48 hereditary breast ovarian cancer syndrome 10.4 ERCC6 ERCC4 ERCC2 ERCC1
49 colorectal cancer 10.4
50 xfe progeroid syndrome 10.4 XPA ERCC6 ERCC5 ERCC4 ERCC3 ERCC2

Graphical network of the top 20 diseases related to Trichothiodystrophy:



Diseases related to Trichothiodystrophy

Symptoms & Phenotypes for Trichothiodystrophy

Human phenotypes related to Trichothiodystrophy:

58 30 (show top 50) (show all 94)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001257
2 abnormal pyramidal sign 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007256
3 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
4 dysarthria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001260
5 dysphonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001618
6 osteopenia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000938
7 coarse facial features 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000280
8 global developmental delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001263
9 delayed skeletal maturation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002750
10 hypertelorism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000316
11 carious teeth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000670
12 umbilical hernia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001537
13 microcephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000252
14 ichthyosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008064
15 photophobia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000613
16 anemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001903
17 cryptorchidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000028
18 dry skin 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000958
19 intrauterine growth retardation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001511
20 retrognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000278
21 high, narrow palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002705
22 epicanthus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000286
23 myopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000545
24 multiple joint contractures 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002828
25 prematurely aged appearance 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007495
26 protruding ear 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000411
27 ventriculomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002119
28 sparse scalp hair 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002209
29 cerebral cortical atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002120
30 joint dislocation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001373
31 ventricular septal defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001629
32 increased bone mineral density 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011001
33 peripheral neuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009830
34 neutropenia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001875
35 eczema 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000964
36 craniosynostosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001363
37 hyporeflexia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001265
38 cutaneous photosensitivity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000992
39 hypotelorism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000601
40 microcornea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000482
41 partial agenesis of the corpus callosum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001338
42 gait ataxia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002066
43 keratoconjunctivitis sicca 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001097
44 ectropion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000656
45 astigmatism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000483
46 cardiomyopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001638
47 dystrophic fingernails 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008391
48 gonadal dysgenesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000133
49 macular degeneration 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000608
50 concave nail 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001598

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.2 AARS1 CARS1 CCNH CDK7 ERCC1 ERCC2
2 no effect GR00402-S-2 10.2 AARS1 CARS1 CCNH CDK7 ERCC1 ERCC2
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.89 ERCC4 ERCC5 ERCC6
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.89 ERCC1 ERCC4 ERCC5 ERCC6
5 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.89 CCNH CDK7 ERCC1 ERCC2 ERCC3 ERCC4

MGI Mouse Phenotypes related to Trichothiodystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.77 AARS1 CDK7 ERCC1 ERCC2 ERCC3 ERCC4
2 integument MP:0010771 9.32 AARS1 CDK7 ERCC1 ERCC2 ERCC3 ERCC5

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
2 Natural History Study for DNA Repair Disorders Recruiting NCT05484570

Search NIH Clinical Center for Trichothiodystrophy

Cochrane evidence based reviews: trichothiodystrophy syndromes

Genetic Tests for Trichothiodystrophy

Genetic tests related to Trichothiodystrophy:

# Genetic test Affiliating Genes
1 Trichothiodystrophy 28

Anatomical Context for Trichothiodystrophy

Organs/tissues related to Trichothiodystrophy:

MalaCards : Skin, Eye, Liver, Brain, Bone, Placenta, Ovary

Publications for Trichothiodystrophy

Articles related to Trichothiodystrophy:

(show top 50) (show all 473)
# Title Authors PMID Year
1
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. 53 62 5
9238033 1997
2
TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription. 62 5
25620205 2015
3
Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum. 62 5
23232694 2013
4
A Japanese trichothiodystrophy patient with XPD mutations. 62 5
20944642 2011
5
Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy. 62 5
8571952 1996
6
Transcription factor IIH - the protein complex with multiple functions. 53 62
20429618 2010
7
The helicase XPD unwinds bubble structures and is not stalled by DNA lesions removed by the nucleotide excision repair pathway. 53 62
19933257 2010
8
Structure, function and evolution of the XPD family of iron-sulfur-containing 5'-->3' DNA helicases. 53 62
19442249 2009
9
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene. 53 62
19085937 2009
10
Comparative study of nucleotide excision repair defects between XPD-mutated fibroblasts derived from trichothiodystrophy and xeroderma pigmentosum patients. 53 62
18817897 2008
11
p8/TTDA overexpression enhances UV-irradiation resistance and suppresses TFIIH mutations in a Drosophila trichothiodystrophy model. 53 62
19008953 2008
12
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy. 53 62
18470933 2008
13
Defective transcription/repair factor IIH recruitment to specific UV lesions in trichothiodystrophy syndrome. 53 62
18676829 2008
14
Crystal structure of the FeS cluster-containing nucleotide excision repair helicase XPD. 53 62
18578568 2008
15
Structure of the DNA repair helicase XPD. 53 62
18510925 2008
16
Solution structure and self-association properties of the p8 TFIIH subunit responsible for trichothiodystrophy. 53 62
17350038 2007
17
[DNA helicases and human diseases]. 53 62
17156731 2006
18
The DNA repair helicases XPD and FancJ have essential iron-sulfur domains. 53 62
16973432 2006
19
Characterization of ERCC3 mutations in the Chinese hamster ovary 27-1, UV24 and MMC-2 cell lines. 53 62
16143348 2006
20
Accelerated aging pathology in ad libitum fed Xpd(TTD) mice is accompanied by features suggestive of caloric restriction. 53 62
16115803 2005
21
Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome. 53 62
16135823 2005
22
A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A. 53 62
15220921 2004
23
Trichothiodystrophy fibroblasts are deficient in the repair of ultraviolet-induced cyclobutane pyrimidine dimers and (6-4)photoproducts. 53 62
15009740 2004
24
Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients. 53 62
12820975 2003
25
Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy. 53 62
12393803 2002
26
DNA repair and transcriptional effects of mutations in TFIIH in Drosophila development. 53 62
12221129 2002
27
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. 53 62
12509240 2002
28
Defective dendritic cell maturation in a child with nucleotide excision repair deficiency and CD4 lymphopenia. 53 62
11737070 2001
29
Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy. 53 62
11734544 2001
30
Effects of XPD mutations on ultraviolet-induced apoptosis in relation to skin cancer-proneness in repair-deficient syndromes. 53 62
11710928 2001
31
Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. 53 62
11709541 2001
32
Codominance associated with overexpression of certain XPD mutations. 53 62
11182546 2001
33
Induced mutagenic effects in the nucleotide excision repair deficient Drosophila mutant mus201(D1), expressing a truncated XPG protein. 53 62
11104904 2001
34
Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder. 53 62
11062469 2000
35
TFIIH with inactive XPD helicase functions in transcription initiation but is defective in DNA repair. 53 62
10660593 2000
36
The cancer-free phenotype in trichothiodystrophy is unrelated to its repair defect. 53 62
10667598 2000
37
Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition. 53 62
10416615 1999
38
The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes. 53 62
10332046 1999
39
The Drosophila melanogaster homologue of the Xeroderma pigmentosum D gene product is located in euchromatic regions and has a dynamic response to UV light-induced lesions in polytene chromosomes. 53 62
10198066 1999
40
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. 53 62
9758621 1998
41
A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy. 53 62
9651581 1998
42
Low catalase activity in xeroderma pigmentosum fibroblasts and SV40-transformed human cell lines is directly related to decreased intracellular levels of the cofactor, NADPH. 53 62
9586811 1998
43
Affinity purification of human DNA repair/transcription factor TFIIH using epitope-tagged xeroderma pigmentosum B protein. 53 62
9422774 1998
44
Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality. 53 62
9426063 1998
45
Werner syndrome: entering the helicase era. 53 62
8976161 1996
46
Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. 53 62
7585650 1995
47
Lethality in yeast of trichothiodystrophy (TTD) mutations in the human xeroderma pigmentosum group D gene. Implications for transcriptional defect in TTD. 53 62
7629061 1995
48
Partial characterization of the DNA repair protein complex, containing the ERCC1, ERCC4, ERCC11 and XPF correcting activities. 53 62
7596355 1995
49
TFIIH: a link between transcription, DNA repair and cell cycle regulation. 53 62
7613092 1995
50
Correction by the ERCC2 gene of UV sensitivity and repair deficiency phenotype in a subset of trichothiodystrophy cells. 53 62
8055625 1994

Variations for Trichothiodystrophy

ClinVar genetic disease variations for Trichothiodystrophy:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ERCC2 NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) SNV Pathogenic
16792 rs121913026 GRCh37: 19:45855493-45855493
GRCh38: 19:45352235-45352235
2 ERCC2 NM_000400.4(ERCC2):c.1636G>A (p.Glu546Lys) SNV Likely Pathogenic
634549 rs769146546 GRCh37: 19:45858017-45858017
GRCh38: 19:45354759-45354759

Expression for Trichothiodystrophy

Search GEO for disease gene expression data for Trichothiodystrophy.

Pathways for Trichothiodystrophy

Pathways related to Trichothiodystrophy according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.63 GTF2H5 GTF2H4 GTF2H2 GTF2E2 ERCC3 ERCC2
2
Show member pathways
13.33 RNF113A GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2
3
Show member pathways
13.1 XPA GTF2H5 GTF2H4 GTF2H2 ERCC6 ERCC5
4
Show member pathways
13.08 CCNH CDK7 ERCC2 ERCC3 GTF2E2 GTF2H2
5
Show member pathways
12.91 GTF2H5 GTF2H4 GTF2H2 GTF2E2 ERCC3 ERCC2
6
Show member pathways
12.9 GTF2H5 GTF2H4 GTF2H2 GTF2E2 ERCC3 ERCC2
7
Show member pathways
12.87 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2 CDK7
8
Show member pathways
12.5 XPA GTF2H2 ERCC6 ERCC5 ERCC4 ERCC3
9
Show member pathways
12.47 XPA GTF2H5 GTF2H4 GTF2H2 ERCC6 ERCC5
10 12.42 CCNH CDK7 ERCC1 ERCC2 ERCC3 ERCC4
11
Show member pathways
11.96 XPA GTF2H5 GTF2H4 GTF2H2 ERCC6 ERCC5
12
Show member pathways
11.76 TARS1 MARS1 CARS1 AARS1
13
Show member pathways
11.71 CCNH CDK7 ERCC2 ERCC3 ERCC6 GTF2H2
14 11.64 XPA GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2
15 11.2 XPA ERCC6 ERCC4 ERCC3 ERCC2 ERCC1
16
Show member pathways
10.99 CDK7 CCNH

GO Terms for Trichothiodystrophy

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.7 CCNH CDK7 ERCC1 ERCC2 ERCC3 ERCC4
2 nucleoplasm GO:0005654 10.65 CCNH CDK7 ERCC1 ERCC2 ERCC3 ERCC4
3 transcription factor TFIID complex GO:0005669 9.93 ERCC2 ERCC3 GTF2E2 GTF2H2 GTF2H4 GTF2H5
4 nucleotide-excision repair complex GO:0000109 9.85 ERCC5 ERCC4 ERCC1
5 ERCC4-ERCC1 complex GO:0070522 9.8 ERCC4 ERCC1
6 CAK-ERCC2 complex GO:0070516 9.8 ERCC2 CDK7 CCNH
7 transcription factor TFIIH holo complex GO:0005675 9.8 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2 CDK7
8 core TFIIH complex portion of holo TFIIH complex GO:0000438 9.76 GTF2H2 GTF2H4
9 cyclin-dependent protein kinase activating kinase holoenzyme complex GO:0019907 9.73 CCNH CDK7
10 nucleotide-excision repair factor 1 complex GO:0000110 9.73 XPA ERCC4 ERCC1
11 transcription factor TFIIK complex GO:0070985 9.71 CCNH CDK7
12 DNA replication factor A complex GO:0005662 9.51 XPA ERCC5
13 transcription factor TFIIH core complex GO:0000439 9.47 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2 CDK7

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 10.28 GTF2H5 GTF2H4 GTF2H2 GTF2E2 ERCC6 ERCC3
2 response to oxidative stress GO:0006979 10.2 ERCC6 ERCC3 ERCC2 ERCC1
3 transcription initiation at RNA polymerase II promoter GO:0006367 10.18 CCNH CDK7 ERCC3 GTF2E2 GTF2H2 GTF2H5
4 response to UV GO:0009411 10.11 GTF2H2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
5 transcription-coupled nucleotide-excision repair GO:0006283 10.06 ERCC2 ERCC3 ERCC5 ERCC6
6 phosphorylation of RNA polymerase II C-terminal domain GO:0070816 10.03 CCNH CDK7 GTF2H4 GTF2H5
7 cellular response to DNA damage stimulus GO:0006974 10.03 XPA RNF113A GTF2H5 GTF2H4 GTF2H2 ERCC6
8 tRNA aminoacylation for protein translation GO:0006418 10 CARS1 AARS1 MARS1 TARS1
9 transcription elongation by RNA polymerase I GO:0006362 9.99 ERCC2 ERCC6 GTF2H5
10 UV-damage excision repair GO:0070914 9.93 XPA ERCC1
11 DNA repair GO:0006281 9.93 XPA RNF113A GTF2H5 GTF2H4 GTF2H2 ERCC6
12 regulation of mitotic cell cycle phase transition GO:1901990 9.92 ERCC3 ERCC2
13 hair cell differentiation GO:0035315 9.91 ERCC3 ERCC2
14 UV protection GO:0009650 9.9 XPA ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
15 negative regulation of telomere maintenance GO:0032205 9.89 ERCC4 ERCC1
16 obsolete nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.89 ERCC5 ERCC4 ERCC1
17 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.88 ERCC4 ERCC1
18 telomeric DNA-containing double minutes formation GO:0061819 9.88 ERCC4 ERCC1
19 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.87 XPA ERCC4
20 obsolete nucleotide-excision repair, DNA incision GO:0033683 9.78 XPA ERCC3 ERCC2
21 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.73 ERCC2 ERCC3
22 obsolete nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.72 ERCC4 ERCC5
23 tRNA metabolic process GO:0006399 9.71 AARS1 CARS1 MARS1
24 nucleic acid metabolic process GO:0090304 9.63 ERCC5 ERCC2
25 cellular macromolecule metabolic process GO:0044260 9.62 MARS1 CARS1
26 tRNA aminoacylation GO:0043039 9.61 TARS1 AARS1
27 nucleotide-excision repair GO:0006289 9.55 XPA GTF2H5 GTF2H4 GTF2H2 ERCC5 ERCC4

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 10.46 AARS1 CARS1 CDK7 ERCC2 ERCC3 ERCC6
2 protein C-terminus binding GO:0008022 10.03 CDK7 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6
3 nucleotide binding GO:0000166 10.02 TARS1 MARS1 HELLS ERCC6 ERCC3 ERCC2
4 promoter-specific chromatin binding GO:1990841 10.01 ERCC4 ERCC3 ERCC1
5 tRNA binding GO:0000049 10.01 AARS1 CARS1 MARS1 TARS1
6 RNA polymerase II general transcription initiation factor activity GO:0016251 9.92 GTF2H4 GTF2H2 GTF2E2 CCNH
7 endodeoxyribonuclease activity GO:0004520 9.86 ERCC5 ERCC4
8 TFIID-class transcription factor complex binding GO:0001094 9.85 ERCC4 ERCC1
9 helicase activity GO:0004386 9.85 HELLS ERCC6 ERCC3 ERCC2
10 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.83 ERCC4 ERCC1
11 DNA helicase activity GO:0003678 9.8 ERCC6 ERCC3 ERCC2
12 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.78 ERCC4 ERCC1
13 ligase activity GO:0016874 9.73 TARS1 MARS1 CARS1 AARS1
14 protein N-terminus binding GO:0047485 9.73 GTF2H2 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
15 aminoacyl-tRNA ligase activity GO:0004812 9.46 TARS1 MARS1 CARS1 AARS1
16 damaged DNA binding GO:0003684 9.4 XPA ERCC5 ERCC4 ERCC3 ERCC2 ERCC1

Sources for Trichothiodystrophy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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