Trichothiodystrophy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Reproductive diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the skin and subcutaneous tissue

Disorders of skin appendages

Hair colour and hair shaft abnormalities

Other hair colour and hair shaft abnormalities

Orphanet: ⁵⁸

Rare neurological diseases

Rare eye diseases

Rare infertility disorders

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹¹ DOID:0111866

MeSH ⁴³ D054463

NCIt ⁴⁹ C4924

SNOMED-CT ⁶⁸ 723551003

MESH via Orphanet ⁴⁴ D054463

ICD10 via Orphanet ³² L67.8

UMLS via Orphanet ⁷² C1955934

Orphanet ⁵⁸ ORPHA33364

UMLS ⁷¹ C1955934

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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...

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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:

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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

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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

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Genetic Tests for Trichothiodystrophy

Genetic tests related to Trichothiodystrophy:

#	Genetic test	Affiliating Genes
1	Trichothiodystrophy ²⁸

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Anatomical Context for Trichothiodystrophy

Organs/tissues related to Trichothiodystrophy:

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

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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	Taylor EM...Lehmann AR	9238033	1997
2	TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription. ⁶² ⁵	Singh A...Egly JM	25620205	2015
3	Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum. ⁶² ⁵	Zhou X...Kraemer KH	23232694	2013
4	A Japanese trichothiodystrophy patient with XPD mutations. ⁶² ⁵	Usuda T...Kobayashi T	20944642	2011
5	Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy. ⁶² ⁵	Takayama K...Weber CA	8571952	1996
6	Transcription factor IIH - the protein complex with multiple functions. ⁵³ ⁶²	Mydlikova Z...Pirsel M	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	Rudolf J...White MF	19933257	2010
8	Structure, function and evolution of the XPD family of iron-sulfur-containing 5'-->3' DNA helicases. ⁵³ ⁶²	White MF	19442249	2009
9	Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene. ⁵³ ⁶²	Botta E...Stefanini M	19085937	2009
10	Comparative study of nucleotide excision repair defects between XPD-mutated fibroblasts derived from trichothiodystrophy and xeroderma pigmentosum patients. ⁵³ ⁶²	Nishiwaki T...Mori T	18817897	2008
11	p8/TTDA overexpression enhances UV-irradiation resistance and suppresses TFIIH mutations in a Drosophila trichothiodystrophy model. ⁵³ ⁶²	Aguilar-Fuentes J...Zurita M	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	Boyle J...Kraemer KH	18470933	2008
13	Defective transcription/repair factor IIH recruitment to specific UV lesions in trichothiodystrophy syndrome. ⁵³ ⁶²	Chigancas V...Sarasin A	18676829	2008
14	Crystal structure of the FeS cluster-containing nucleotide excision repair helicase XPD. ⁵³ ⁶²	Wolski SC...Kisker C	18578568	2008
15	Structure of the DNA repair helicase XPD. ⁵³ ⁶²	Liu H...White MF	18510925	2008
16	Solution structure and self-association properties of the p8 TFIIH subunit responsible for trichothiodystrophy. ⁵³ ⁶²	Vitorino M...Kieffer B	17350038	2007
17	[DNA helicases and human diseases]. ⁵³ ⁶²	Uhring M...Poterszman A	17156731	2006
18	The DNA repair helicases XPD and FancJ have essential iron-sulfur domains. ⁵³ ⁶²	Rudolf J...White MF	16973432	2006
19	Characterization of ERCC3 mutations in the Chinese hamster ovary 27-1, UV24 and MMC-2 cell lines. ⁵³ ⁶²	Hall H...Pirsel M	16143348	2006
20	Accelerated aging pathology in ad libitum fed Xpd(TTD) mice is accompanied by features suggestive of caloric restriction. ⁵³ ⁶²	Wijnhoven SW...van Steeg H	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	Theron T...Lehmann AR	16135823	2005
22	A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A. ⁵³ ⁶²	Giglia-Mari G...Vermeulen W	15220921	2004
23	Trichothiodystrophy fibroblasts are deficient in the repair of ultraviolet-induced cyclobutane pyrimidine dimers and (6-4)photoproducts. ⁵³ ⁶²	Nishiwaki Y...Mori T	15009740	2004
24	Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients. ⁵³ ⁶²	Dubaele S...Egly JM	12820975	2003
25	Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy. ⁵³ ⁶²	Botta E...Stefanini M	12393803	2002
26	DNA repair and transcriptional effects of mutations in TFIIH in Drosophila development. ⁵³ ⁶²	Merino C...Zurita M	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	Castro J...Zurita M	12509240	2002
28	Defective dendritic cell maturation in a child with nucleotide excision repair deficiency and CD4 lymphopenia. ⁵³ ⁶²	Racioppi L...Rossi P	11737070	2001
29	Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy. ⁵³ ⁶²	Viprakasit V...Higgs DR	11734544	2001
30	Effects of XPD mutations on ultraviolet-induced apoptosis in relation to skin cancer-proneness in repair-deficient syndromes. ⁵³ ⁶²	Queille S...Daya-Grosjean L	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	Broughton BC...Lehmann AR	11709541	2001
32	Codominance associated with overexpression of certain XPD mutations. ⁵³ ⁶²	Kadkhodayan S...Thompson LH	11182546	2001
33	Induced mutagenic effects in the nucleotide excision repair deficient Drosophila mutant mus201(D1), expressing a truncated XPG protein. ⁵³ ⁶²	Calleja FM...Eeken JC	11104904	2001
34	Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder. ⁵³ ⁶²	Vermeulen W...Egly JM	11062469	2000
35	TFIIH with inactive XPD helicase functions in transcription initiation but is defective in DNA repair. ⁵³ ⁶²	Winkler GS...Weeda G	10660593	2000
36	The cancer-free phenotype in trichothiodystrophy is unrelated to its repair defect. ⁵³ ⁶²	Berneburg M...Lehmann AR	10667598	2000
37	Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition. ⁵³ ⁶²	de Boer J...Weeda G	10416615	1999
38	The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes. ⁵³ ⁶²	Riou L...Sarasin A	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	Reynaud E...Zurita M	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	Botta E...Stefanini M	9758621	1998
41	A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy. ⁵³ ⁶²	de Boer J...Weeda G	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	Hoffschir F...Vuillaume M	9586811	1998
43	Affinity purification of human DNA repair/transcription factor TFIIH using epitope-tagged xeroderma pigmentosum B protein. ⁵³ ⁶²	Winkler GS...Weeda G	9422774	1998
44	Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality. ⁵³ ⁶²	de Boer J...Weeda G	9426063	1998
45	Werner syndrome: entering the helicase era. ⁵³ ⁶²	Epstein CJ...Motulsky AG	8976161	1996
46	Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. ⁵³ ⁶²	Takayama K...Weber CA	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	Guzder SN...Prakash L	7629061	1995
48	Partial characterization of the DNA repair protein complex, containing the ERCC1, ERCC4, ERCC11 and XPF correcting activities. ⁵³ ⁶²	van Vuuren AJ...Hoeijmakers JH	7596355	1995
49	TFIIH: a link between transcription, DNA repair and cell cycle regulation. ⁵³ ⁶²	Seroz T...Egly JM	7613092	1995
50	Correction by the ERCC2 gene of UV sensitivity and repair deficiency phenotype in a subset of trichothiodystrophy cells. ⁵³ ⁶²	Mezzina M...Weber CA	8055625	1994

Sources

Genes for Trichothiodystrophy

Genes related to Trichothiodystrophy (8 elite genes):

(show top 50) (show all 73)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ERCC2	ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit	Protein Coding	823.97	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	9238033 8571952 25620205 (more) 20944642 23232694 12393803 12820975 18470933 19085937 9426063 10667598 11062469 19442249 19933257 18510925 17156731 16973432 11709541 11182546 10416615 18817897 7585650 16135823 9758621 16115803 11737070 11710928 18578568 18676829 15009740 1372108 7629061 8055625 10198066
2	GTF2H5	General Transcription Factor IIH Subunit 5	Protein Coding	407.65	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	12393803 11062469
3	ERCC3	ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit	Protein Coding	398.13	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	12393803 11062469 12221129 (more) 19008953 9422774 20429618 16143348 17156731 9651581 10332046 15220921 18470933 7613092 19085937 12509240 17350038 11734544
4	MPLKIP	M-Phase Specific PLK1 Interacting Protein	Protein Coding	384.61	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
5	RNF113A	Ring Finger Protein 113A	Protein Coding	374.2	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	25612912
6	GTF2E2	General Transcription Factor IIE Subunit 2	Protein Coding	373.55	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	26996949
7	TARS1	Threonyl-TRNA Synthetase 1	Protein Coding	361.98	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	31374204
8	CARS1	Cysteinyl-TRNA Synthetase 1	Protein Coding	353.57	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	30824121
9	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	38.37	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	11104904
10	ERCC5	ERCC Excision Repair 5, Endonuclease	Protein Coding	33.08	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	11104904
11	XPA	XPA, DNA Damage Recognition And Repair Factor	Protein Coding	25.36	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11104904
12	ERCC1	ERCC Excision Repair 1, Endonuclease Non-Catalytic Subunit	Protein Coding	22.21	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	7596355
13	MARS1	Methionyl-TRNA Synthetase 1	Protein Coding	19.45	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
14	HELLS	Helicase, Lymphoid Specific	Protein Coding	17.72	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	8976161 11062469 10660593 (more) 16973432
15	AARS1	Alanyl-TRNA Synthetase 1	Protein Coding	16.32	GeneCards inferred via : Disorders Publications (show sections)
16	GTF2H4	General Transcription Factor IIH Subunit 4	Protein Coding	15.28	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
17	CCNH	Cyclin H	Protein Coding	14.48	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
18	GTF2H2	General Transcription Factor IIH Subunit 2	Protein Coding	14.48	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
19	ERCC4	ERCC Excision Repair 4, Endonuclease Catalytic Subunit	Protein Coding	14.25	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
20	CDK7	Cyclin Dependent Kinase 7	Protein Coding	14.09	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
21	GTF2H1	General Transcription Factor IIH Subunit 1	Protein Coding	13.87	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
22	GTF2H3	General Transcription Factor IIH Subunit 3	Protein Coding	13.42	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
23	XPC	XPC Complex Subunit, DNA Damage Recognition And Repair Factor	Protein Coding	13.15	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
24	MNAT1	MNAT1 Component Of CDK Activating Kinase	Protein Coding	12.56	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
25	RPA1	Replication Protein A1	Protein Coding	12.17	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
26	SUGCT	Succinyl-CoA:Glutarate-CoA Transferase	Protein Coding	12.16	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
27	COL6A1	Collagen Type VI Alpha 1 Chain	Protein Coding	10.4	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
28	MMP1	Matrix Metallopeptidase 1	Protein Coding	10.24	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
29	H2AC18	H2A Clustered Histone 18	Protein Coding	7.66	DISEASES inferred ¹⁴ ¹⁴
30	RAD23B	RAD23 Homolog B, Nucleotide Excision Repair Protein	Protein Coding	7.29	DISEASES inferred ¹⁴
31	PTGIS	Prostaglandin I2 Synthase	Protein Coding	7.24	GeneCards inferred via : Publications (show sections)
32	SF3B1	Splicing Factor 3b Subunit 1	Protein Coding	7.24	GeneCards inferred via : Publications (show sections)
33	SF3B2	Splicing Factor 3b Subunit 2	Protein Coding	7.24	GeneCards inferred via : Publications (show sections)
34	SPP1	Secreted Phosphoprotein 1	Protein Coding	7.24	GeneCards inferred via : Publications (show sections)
35	VDR	Vitamin D Receptor	Protein Coding	7.24	GeneCards inferred via : Publications (show sections)
36	DDB2	Damage Specific DNA Binding Protein 2	Protein Coding	6.92	DISEASES inferred ¹⁴
37	ERCC8	ERCC Excision Repair 8, CSA Ubiquitin Ligase Complex Subunit	Protein Coding	6.91	DISEASES inferred ¹⁴
38	BRIP1	BRCA1 Interacting Helicase 1	Protein Coding	6.76	DISEASES inferred ¹⁴
39	POLR2L	RNA Polymerase II, I And III Subunit L	Protein Coding	6.54	GeneCards inferred via : Publications (show sections)
40	UVSSA	UV Stimulated Scaffold Protein A	Protein Coding	6.54	DISEASES inferred ¹⁴
41	DDX11	DEAD/H-Box Helicase 11	Protein Coding	6.53	DISEASES inferred ¹⁴
42	DDB1	Damage Specific DNA Binding Protein 1	Protein Coding	6.5	DISEASES inferred ¹⁴
43	WRN	WRN RecQ Like Helicase	Protein Coding	6.42	DISEASES inferred ¹⁴
44	LIG1	DNA Ligase 1	Protein Coding	6.35	DISEASES inferred ¹⁴
45	CETN2	Centrin 2	Protein Coding	6.18	DISEASES inferred ¹⁴
46	SRSF1	Serine And Arginine Rich Splicing Factor 1	Protein Coding	5.96	DISEASES inferred ¹⁴
47	FEN1	Flap Structure-Specific Endonuclease 1	Protein Coding	5.94	DISEASES inferred ¹⁴
48	XRCC1	X-Ray Repair Cross Complementing 1	Protein Coding	5.88	DISEASES inferred ¹⁴
49	RAD51	RAD51 Recombinase	Protein Coding	5.87	DISEASES inferred ¹⁴
50	CLMP	CXADR Like Membrane Protein	Protein Coding	5.84	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Trichothiodystrophy

Search GEO for disease gene expression data for Trichothiodystrophy.

Sources

Pathways for Trichothiodystrophy

Pathways related to Trichothiodystrophy according to GeneCards Suite gene sharing:

(show all 16)

#	Super pathways	Score	Top Affiliating Genes
1	Disease ⁶⁶ Show member pathways Infectious disease ⁶⁶	13.63	GTF2H5 GTF2H4 GTF2H2 GTF2E2 ERCC3 ERCC2
2	Processing of Capped Intron-Containing Pre-mRNA ⁶⁶ Show member pathways Metabolism of RNA ⁶⁶ mRNA processing ⁷⁴ mRNA Splicing ⁶⁶ mRNA Splicing - Major Pathway ⁶⁶	13.33	RNF113A GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2
3	Homology Directed Repair ⁶⁶ Show member pathways Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex ⁶⁶ DNA Double-Strand Break Repair ⁶⁶ DNA Repair ⁶⁶ G2/M DNA damage checkpoint ⁶⁶ HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) ⁶⁶ HDR through MMEJ (alt-NHEJ) ⁶⁶ Processing of DNA double-strand break ends ⁶⁶	13.1	XPA GTF2H5 GTF2H4 GTF2H2 ERCC6 ERCC5
4	Formation of HIV elongation complex in the absence of HIV Tat ⁶⁶ Show member pathways Abortive elongation of HIV-1 transcript in the absence of Tat ⁶⁶ FGFR2 alternative splicing ⁶⁶ Formation of HIV-1 elongation complex containing HIV-1 Tat ⁶⁶ Formation of RNA Pol II elongation complex ⁶⁶ Formation of the Early Elongation Complex ⁶⁶ Formation of the HIV-1 Early Elongation Complex ⁶⁶ HIV elongation arrest and recovery ⁶⁶ HIV Transcription Elongation ⁶⁶ Interactions of Tat with host cellular proteins ⁶⁶ MicroRNA (miRNA) biogenesis ⁶⁶ miRNA biogenesis ⁷⁴ mRNA Capping ⁶⁶ Pausing and recovery of HIV elongation ⁶⁶ Pausing and recovery of Tat-mediated HIV elongation ⁶⁶ PIWI-interacting RNA (piRNA) biogenesis ⁶⁶ RNA Pol II CTD phosphorylation and interaction with CE ⁶⁶ RNA Pol II CTD phosphorylation and interaction with CE during HIV infection ⁶⁶ RNA Polymerase II Pre-transcription Events ⁶⁶ RNA polymerase II transcribes snRNA genes ⁶⁶ RNA Polymerase II Transcription Elongation ⁶⁶ Tat-mediated elongation of the HIV-1 transcript ⁶⁶ Tat-mediated HIV elongation arrest and recovery ⁶⁶ TP53 Regulates Transcription of DNA Repair Genes ⁶⁶ Transcription of the HIV genome ⁶⁶	13.08	CCNH CDK7 ERCC2 ERCC3 GTF2E2 GTF2H2
5	RNA Polymerase II Transcription Initiation And Promoter Clearance ⁶⁶ Show member pathways Assembly of RNA Polymerase-II Initiation Complex ⁶⁴ Crosstalk Between CARM1 and ESRs ⁶⁴ Eukaryotic transcription initiation ⁷⁴ HIV Transcription Initiation ⁶⁶ Protein Acetylation and Deacetylation ⁶⁴ RNA Polymerase II HIV Promoter Escape ⁶⁶ RNA Polymerase II Promoter Escape ⁶⁶ RNA Polymerase II Transcription Initiation ⁶⁶ RNA Polymerase II Transcription Pre-Initiation And Promoter Opening ⁶⁶ Transcription Ligand-Dependent Transcription of Retinoid-Target genes ²² Transcription of mRNA ⁶⁴	12.91	GTF2H5 GTF2H4 GTF2H2 GTF2E2 ERCC3 ERCC2
6	HIV Life Cycle ⁶⁶ Show member pathways 2-LTR circle formation ⁶⁶ APOBEC3G mediated resistance to HIV-1 infection ⁶⁶ Assembly Of The HIV Virion ⁶⁶ Binding and entry of HIV virion ⁶⁶ Early Phase of HIV Life Cycle ⁶⁶ HIV Infection ⁶⁶ Host Interactions of HIV factors ⁶⁶ Integration of provirus ⁶⁶ Late Phase of HIV Life Cycle ⁶⁶	12.9	GTF2H5 GTF2H4 GTF2H2 GTF2E2 ERCC3 ERCC2
7	Regulation of TP53 Activity ⁶⁶ Show member pathways Regulation of TP53 Activity through Association with Co-factors ⁶⁶ Regulation of TP53 Activity through Methylation ⁶⁶ Regulation of TP53 Activity through Phosphorylation ⁶⁶ Transcriptional Regulation by TP53 ⁶⁶	12.87	GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2 CDK7
8	Chks in Checkpoint Regulation ⁶⁴ Show member pathways DNA Repair Mechanisms ⁶⁴ Estrogen-mediated S-Phase Entry ⁶⁴ G2-M Phase Transition ⁶⁴ SREBP Proteolysis ⁶⁴	12.5	XPA GTF2H2 ERCC6 ERCC5 ERCC4 ERCC3
9	Transcription-Coupled Nucleotide Excision Repair (TC-NER) ⁶⁶ Show member pathways DNA Damage Recognition in GG-NER ⁶⁶ Dual incision in TC-NER ⁶⁶ Formation of Incision Complex in GG-NER ⁶⁶ Formation of TC-NER Pre-Incision Complex ⁶⁶ Gap-filling DNA repair synthesis and ligation in TC-NER ⁶⁶ Global Genome Nucleotide Excision Repair (GG-NER) ⁶⁶ Nucleotide Excision Repair ⁶⁶	12.47	XPA GTF2H5 GTF2H4 GTF2H2 ERCC6 ERCC5
10	DNA Damage ³	12.42	CCNH CDK7 ERCC1 ERCC2 ERCC3 ERCC4
11	DNA repair pathways, full network ⁷⁴ Show member pathways Defective Mismatch Repair Associated With MSH2 ⁶⁶ Defective Mismatch Repair Associated With MSH3 ⁶⁶ Defective Mismatch Repair Associated With MSH6 ⁶⁶ Diseases of Mismatch Repair (MMR) ⁶⁶ Dual Incision in GG-NER ⁶⁶ Homologous recombination ⁷⁴ Mismatch Repair ⁶⁶ Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) ⁶⁶ Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) ⁶⁶ Non-homologous end joining ⁷⁴ Nucleotide excision repair ⁷⁴ Nucleotide excision repair in xeroderma pigmentosum ⁷⁴ Nucleotide Excision Repair Pathway ⁶⁴	11.96	XPA GTF2H5 GTF2H4 GTF2H2 ERCC6 ERCC5
12	tRNA Aminoacylation ⁶⁶ Show member pathways Cytosolic tRNA aminoacylation ⁶⁶ Mitochondrial tRNA aminoacylation ⁶⁶	11.76	TARS1 MARS1 CARS1 AARS1
13	RNA Polymerase I Transcription Termination ⁶⁶ Show member pathways Assembly of RNA Polymerase-I Initiation Complex ⁶⁴ RNA Polymerase I Transcription Initiation ⁶⁶	11.71	CCNH CDK7 ERCC2 ERCC3 ERCC6 GTF2H2
14	Transcription_P53 signaling pathway ²²	11.64	XPA GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2
15	Platinum Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	11.2	XPA ERCC6 ERCC4 ERCC3 ERCC2 ERCC1
16	Retinoic acid receptors-mediated signaling ⁶¹ Show member pathways Vitamins A and D - action mechanisms ⁷⁴	10.99	CDK7 CCNH

Sources

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

Sources for Trichothiodystrophy

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

TTD MCID: TRC096 MIFTS: 55	Trichothiodystrophy (TTD) Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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