MCID: TRC102
MIFTS: 59

Trichothiodystrophy 1, Photosensitive

Categories: Genetic diseases, Rare diseases, Mental diseases, Skin diseases, Neuronal diseases

Aliases & Classifications for Trichothiodystrophy 1, Photosensitive

MalaCards integrated aliases for Trichothiodystrophy 1, Photosensitive:

Name: Trichothiodystrophy 1, Photosensitive 53 71 28
Trichothiodystrophy 12 72 49 24 13 51
Ibids Syndrome 12 72 49 71
Tay Syndrome 53 12 49 71
Trichothiodystrophy with Congenital Ichthyosis 53 12 71
Photosensitive Trichothiodystrophy 12 14 69
Ichthyosiform Erythroderma with Hair Abnormality and Mental and Growth Retardation 53 71
Ichthyosis, Congenital, with Trichothiodystrophy 53 71
Trichothiodystrophy Syndromes 41 69
Trichothiodystrophy, Type 1 69 28
Pibids Syndrome 53 71
Ttd1 53 71
Ttdp 53 71
Trichothiodystrophy with Congenital Ichthyosis; Ichthyosis, Congenital, with Trichothiodystrophy 53
Ichthyosis with Brittle Hair, Intellectual Impairment, Decreased Fertility and Short Stature 71
Ichtyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature 49
Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome 24
Trichothiodystrophy with Congenital Ichtyosis 49
Trichothiodystrophy, Photosensitive; Ttdp 53
Sulfur-Deficient Brittle Hair Syndrome 12
Trichothiodystrophy, Photosensitive 53
Trichothiodystrophy Photosensitive 71
Amish Brittle Hair Brain Syndrome 69
Tricho-Thiodystrophy Disorder 69
Amish Brittle Hair Syndrome 24
Bids Syndrome 24
Pibids 24
Ibids 24
Ttd 24

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
skin neoplasia may appear later in life


HPO:

31
trichothiodystrophy 1, photosensitive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Trichothiodystrophy 1, Photosensitive

OMIM : 53 Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). (601675)

MalaCards based summary : Trichothiodystrophy 1, Photosensitive, also known as trichothiodystrophy, is related to trichothiodystrophy 4, nonphotosensitive and trichothiodystrophy 2, photosensitive, and has symptoms including photophobia, dry skin and nystagmus. An important gene associated with Trichothiodystrophy 1, Photosensitive is ERCC2 (ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit), and among its related pathways/superpathways are Gene Expression and Formation of HIV elongation complex in the absence of HIV Tat. Affiliated tissues include brain, testes and skin, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and integument

UniProtKB/Swiss-Prot : 71 Trichothiodystrophy 1, photosensitive: A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD1 patients manifest cutaneous photosensitivity.

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Ectodermal dysplasia.

Genetics Home Reference : 24 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.

Wikipedia : 72 Trichothiodystrophy (TTD) is an autosomal recessive inherited disorder characterised by brittle hair and... more...

Related Diseases for Trichothiodystrophy 1, Photosensitive

Diseases in the Trichothiodystrophy 1, Photosensitive family:

Trichothiodystrophy 2, Photosensitive Trichothiodystrophy 3, Photosensitive

Diseases related to Trichothiodystrophy 1, Photosensitive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 trichothiodystrophy 4, nonphotosensitive 12.5
2 trichothiodystrophy 2, photosensitive 11.3
3 trichothiodystrophy 3, photosensitive 11.2
4 nonphotosensitive trichothiodystrophy 10.4 ERCC3 MPLKIP
5 xeroderma pigmentosum, complementation group c 10.3 ERCC3 XPA
6 cockayne syndrome type ii 10.3 ERCC1 ERCC6
7 xeroderma pigmentosum, complementation group e 10.2 ERCC5 XPA
8 xeroderma pigmentosum, complementation group a 10.2 ERCC1 XPA
9 mutagen sensitivity 10.2 ERCC2 XPA
10 cockayne syndrome b 10.2 ERCC2 ERCC6 XPA
11 cerebrooculofacioskeletal syndrome 1 10.2 ERCC2 ERCC5 ERCC6
12 cockayne syndrome a 10.1 ERCC2 ERCC5 ERCC6
13 autosomal genetic disease 10.1 ERCC1 ERCC2 XPA
14 diffuse gastric cancer 10.0 ERCC1 ERCC2
15 uv-sensitive syndrome 10.0 ERCC2 ERCC3 ERCC5 ERCC6
16 xeroderma pigmentosum, complementation group f 9.9 ERCC1 ERCC2 ERCC5 XPA
17 baller-gerold syndrome 9.9 BRIP1 ERCC1
18 xeroderma pigmentosum, complementation group g 9.9 ERCC1 ERCC3 ERCC5 XPA
19 autosomal recessive disease 9.9 ERCC2 ERCC3 GTF2H5 MPLKIP XPA
20 acoustic neuroma 9.8 BRIP1 ERCC5
21 cerebro-oculo-facio-skeletal syndrome 9.8 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
22 fanconi anemia, complementation group a 9.6 BRIP1 ERCC1 ERCC2 HELLS
23 xeroderma pigmentosum, complementation group b 9.5 ERCC1 ERCC2 ERCC3 GTF2H4 GTF2H5 XPA
24 xeroderma pigmentosum, variant type 9.5 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 XPA
25 xeroderma pigmentosum, complementation group d 9.4 BRIP1 ERCC1 ERCC2 ERCC3 GTF2H5 XPA
26 cockayne syndrome 9.3 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 HELLS

Graphical network of the top 20 diseases related to Trichothiodystrophy 1, Photosensitive:



Diseases related to Trichothiodystrophy 1, Photosensitive

Symptoms & Phenotypes for Trichothiodystrophy 1, Photosensitive

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
photophobia
nystagmus
cataract
strabismus
microcornea (in some patients)
more
Abdomen Gastroin testinal:
malabsorption
chronic diarrhea

Skin Nails Hair Hair:
sparse hair
trichorrhexis nodosa
brittle hair
thin hair
trichoschisis
more
Skin Nails Hair Nails:
hypoplastic nails
dystrophic nails
brittle nails

Growth Weight:
low birth weight

Head And Neck Face:
receding chin
unusual face

Head And Neck Head:
microcephaly (<3rd centile)

Head And Neck Mouth:
small, triangular mouth

Immunology:
recurrent infections (enteritis, otitis, and urinary infection)

Skin Nails Hair Skin:
dry skin
ichthyosis
erythroderma
freckling
collodion baby
more
Growth Height:
short stature

Neoplasia:
squamous cell carcinoma
basal cell carcinoma

Growth Other:
growth retardation

Neurologic Central Nervous System:
speech delay
mental retardation (iq 45-58)
poor gross and fine motor coordination
diffuse signal hyperintensity of white matter seen on mri

Head And Neck Ears:
protruding ears (in some patients)
recurrent otitis (in some patients)

Head And Neck Nose:
small, thin nose

Head And Neck Teeth:
dystrophic teeth


Clinical features from OMIM:

601675

Human phenotypes related to Trichothiodystrophy 1, Photosensitive:

31 (show all 38)
# Description HPO Frequency HPO Source Accession
1 photophobia 31 HP:0000613
2 dry skin 31 HP:0000958
3 nystagmus 31 HP:0000639
4 intellectual disability 31 HP:0001249
5 cataract 31 HP:0000518
6 delayed speech and language development 31 HP:0000750
7 malabsorption 31 HP:0002024
8 microcephaly 31 HP:0000252
9 short stature 31 HP:0004322
10 flexion contracture 31 HP:0001371
11 nail dystrophy 31 HP:0008404
12 retrognathia 31 HP:0000278
13 strabismus 31 HP:0000486
14 abnormality of the thorax 31 HP:0000765
15 protruding ear 31 occasional (7.5%) HP:0000411
16 intestinal obstruction 31 HP:0005214
17 hypogonadism 31 HP:0000135
18 keratoconjunctivitis sicca 31 occasional (7.5%) HP:0001097
19 microphthalmia 31 occasional (7.5%) HP:0000568
20 small nail 31 HP:0001792
21 asthma 31 HP:0002099
22 recurrent infections 31 HP:0002719
23 fine hair 31 HP:0002213
24 chronic diarrhea 31 HP:0002028
25 cutaneous photosensitivity 31 HP:0000992
26 microcornea 31 occasional (7.5%) HP:0000482
27 sparse hair 31 HP:0008070
28 erythroderma 31 HP:0001019
29 squamous cell carcinoma 31 HP:0002860
30 igg deficiency 31 HP:0004315
31 trichorrhexis nodosa 31 HP:0009886
32 freckling 31 HP:0001480
33 congenital nonbullous ichthyosiform erythroderma 31 HP:0007479
34 fragile nails 31 HP:0001808
35 small for gestational age 31 HP:0001518
36 brittle hair 31 HP:0002299
37 lack of subcutaneous fatty tissue 31 HP:0007519
38 basal cell carcinoma 31 HP:0002671

UMLS symptoms related to Trichothiodystrophy 1, Photosensitive:


dry skin, photophobia

GenomeRNAi Phenotypes related to Trichothiodystrophy 1, Photosensitive according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.23 BRIP1 ERCC1 ERCC2 ERCC3 ERCC6 GTF2H4

MGI Mouse Phenotypes related to Trichothiodystrophy 1, Photosensitive:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.7 XPA ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
2 adipose tissue MP:0005375 9.65 ERCC1 ERCC2 ERCC6 HELLS XPA
3 mortality/aging MP:0010768 9.65 ASCC2 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
4 neoplasm MP:0002006 9.1 BRIP1 ERCC1 ERCC2 ERCC3 ERCC6 XPA

Drugs & Therapeutics for Trichothiodystrophy 1, Photosensitive

Search Clinical Trials , NIH Clinical Center for Trichothiodystrophy 1, Photosensitive

Cochrane evidence based reviews: trichothiodystrophy syndromes

Genetic Tests for Trichothiodystrophy 1, Photosensitive

Genetic tests related to Trichothiodystrophy 1, Photosensitive:

# Genetic test Affiliating Genes
1 Trichothiodystrophy 1, Photosensitive 28 ERCC2
2 Trichothiodystrophy, Type 1 28

Anatomical Context for Trichothiodystrophy 1, Photosensitive

MalaCards organs/tissues related to Trichothiodystrophy 1, Photosensitive:

38
Brain, Testes, Skin, Eye, Cortex

Publications for Trichothiodystrophy 1, Photosensitive

Articles related to Trichothiodystrophy 1, Photosensitive:

(show top 50) (show all 71)
# Title Authors Year
1
Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP. ( 26880286 )
2016
2
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy. ( 26996949 )
2016
3
Photosensitive form of trichothiodystrophy associated with a novel mutation in the XPD gene. ( 26577220 )
2016
4
A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred. ( 26518168 )
2015
5
Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype. ( 25290684 )
2015
6
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A. ( 25612912 )
2015
7
TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin. ( 25605938 )
2015
8
TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription. ( 25620205 )
2015
9
Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum. ( 23232694 )
2013
10
Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing. ( 23562818 )
2013
11
XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression. ( 23221806 )
2013
12
Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum. ( 22617342 )
2012
13
Trichothiodystrophy with dysmyelination and central osteosclerosis. ( 20075106 )
2010
14
Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development. ( 20002457 )
2010
15
Trichothiodystrophy and fragile hair: the distinction between diagnostic signs and diagnostic labels in childhood hair disease. ( 19754869 )
2009
16
Trichothiodystrophy view from the molecular basis of DNA repair/transcription factor TFIIH. ( 19808800 )
2009
17
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene. ( 19085937 )
2009
18
New clinico-genetic classification of trichothiodystrophy. ( 19681155 )
2009
19
Defective transcription/repair factor IIH recruitment to specific UV lesions in trichothiodystrophy syndrome. ( 18676829 )
2008
20
Xeroderma pigmentosum: its overlap with trichothiodystrophy, Cockayne syndrome and other progeroid syndromes. ( 19181118 )
2008
21
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. ( 18329345 )
2008
22
Comparative study of nucleotide excision repair defects between XPD-mutated fibroblasts derived from trichothiodystrophy and xeroderma pigmentosum patients. ( 18817897 )
2008
23
Structural basis for group A trichothiodystrophy. ( 19172752 )
2008
24
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy. ( 18470933 )
2008
25
p8/TTDA overexpression enhances UV-irradiation resistance and suppresses TFIIH mutations in a Drosophila trichothiodystrophy model. ( 19008953 )
2008
26
Solution structure and self-association properties of the p8 TFIIH subunit responsible for trichothiodystrophy. ( 17350038 )
2007
27
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. ( 16977596 )
2007
28
Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk. ( 17880036 )
2007
29
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. ( 17276014 )
2007
30
Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles. ( 17020410 )
2006
31
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. ( 15645389 )
2005
32
Cerebellar and cerebral atrophy in trichothiodystrophy. ( 15912410 )
2005
33
Trichothiodystrophy fibroblasts are deficient in the repair of ultraviolet-induced cyclobutane pyrimidine dimers and (6-4)photoproducts. ( 15009740 )
2004
34
PIBIDS syndrome (trichothiodystrophy type F) and skin cancer: an exceptional association. ( 15144394 )
2004
35
A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A and stabilizes TFIIH. ( 15220921 )
2004
36
Central osteosclerosis with trichothiodystrophy. ( 15148554 )
2004
37
Efficient repair of cyclobutane pyrimidine dimers at mutational hot spots is restored in complemented Xeroderma pigmentosum group C and trichothiodystrophy/xeroderma pigmentosum group D cells. ( 12948486 )
2003
38
Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients. ( 12820975 )
2003
39
DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. ( 14726016 )
2003
40
Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy. ( 12393803 )
2002
41
Restriction in T-cell receptor repertoire in a patient affected by trichothiodystrophy and CD4+ lymphopenia. ( 12121441 )
2002
42
Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes. ( 11369901 )
2001
43
Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy. ( 11734544 )
2001
44
Restoration of nucleotide excision repair in a helicase-deficient XPD mutant from intragenic suppression by a trichothiodystrophy mutation. ( 11585917 )
2001
45
Trichothiodystrophy, a transcription syndrome. ( 11335038 )
2001
46
Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. ( 11709541 )
2001
47
The cancer-free phenotype in trichothiodystrophy is unrelated to its repair defect. ( 10667598 )
2000
48
Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder. ( 11062469 )
2000
49
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. ( 10447254 )
1999
50
The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes. ( 10332046 )
1999

Variations for Trichothiodystrophy 1, Photosensitive

UniProtKB/Swiss-Prot genetic disease variations for Trichothiodystrophy 1, Photosensitive:

71 (show all 15)
# Symbol AA change Variation ID SNP ID
1 ERCC2 p.Arg112His VAR_003622 rs121913020
2 ERCC2 p.Leu461Val VAR_003623 rs121913016
3 ERCC2 p.Arg616Pro VAR_003626 rs376556895
4 ERCC2 p.Arg722Trp VAR_003630 rs121913026
5 ERCC2 p.Ala725Pro VAR_003631 rs121913018
6 ERCC2 p.Cys259Tyr VAR_008189 rs370454709
7 ERCC2 p.Arg658Cys VAR_008194 rs121913021
8 ERCC2 p.Arg658His VAR_008195 rs762141272
9 ERCC2 p.Asp673Gly VAR_008196
10 ERCC2 p.Gly713Arg VAR_008199 rs121913022
11 ERCC2 p.Arg487Gly VAR_017284
12 ERCC2 p.Arg592Pro VAR_017287
13 ERCC2 p.Ala594Pro VAR_017288
14 ERCC2 p.Arg658Gly VAR_017290
15 ERCC2 p.Cys663Arg VAR_017291 rs770367713

ClinVar genetic disease variations for Trichothiodystrophy 1, Photosensitive:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC2 NM_000400.3(ERCC2): c.1381C> G (p.Leu461Val) single nucleotide variant Pathogenic rs121913016 GRCh37 Chromosome 19, 45860626: 45860626
2 ERCC2 NM_000400.3(ERCC2): c.2173G> C (p.Ala725Pro) single nucleotide variant Pathogenic rs121913018 GRCh37 Chromosome 19, 45855484: 45855484
3 ERCC2 NM_000400.3(ERCC2): c.335G> A (p.Arg112His) single nucleotide variant Pathogenic rs121913020 GRCh37 Chromosome 19, 45871913: 45871913
4 ERCC2 NM_000400.3(ERCC2): c.1972C> T (p.Arg658Cys) single nucleotide variant Pathogenic rs121913021 GRCh37 Chromosome 19, 45855838: 45855838
5 ERCC2 NM_000400.3(ERCC2): c.2137G> C (p.Gly713Arg) single nucleotide variant Pathogenic rs121913022 GRCh37 Chromosome 19, 45855520: 45855520
6 ERCC2 NM_000400.3(ERCC2): c.2164C> T (p.Arg722Trp) single nucleotide variant Pathogenic rs121913026 GRCh37 Chromosome 19, 45855493: 45855493
7 GTF2H5 NM_207118.2(GTF2H5): c.166C> T (p.Arg56Ter) single nucleotide variant Pathogenic rs121434364 GRCh37 Chromosome 6, 158613139: 158613139
8 GTF2H5 NM_207118.2(GTF2H5): c.62T> C (p.Leu21Pro) single nucleotide variant Pathogenic rs121434365 GRCh37 Chromosome 6, 158613035: 158613035
9 MPLKIP NM_138701.3(MPLKIP): c.505dupA (p.Thr169Asnfs) duplication Pathogenic rs768342562 GRCh37 Chromosome 7, 40172693: 40172693
10 ERCC2 NM_000400.3(ERCC2): c.1847G> C (p.Arg616Pro) single nucleotide variant Pathogenic/Likely pathogenic rs376556895 GRCh38 Chromosome 19, 45352801: 45352801
11 ERCC2 NM_000400.3(ERCC2): c.594+2_594+5delTGAG deletion Likely pathogenic rs762309206 GRCh37 Chromosome 19, 45868091: 45868094

Expression for Trichothiodystrophy 1, Photosensitive

Search GEO for disease gene expression data for Trichothiodystrophy 1, Photosensitive.

Pathways for Trichothiodystrophy 1, Photosensitive

Pathways related to Trichothiodystrophy 1, Photosensitive according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.59 BRIP1 ERCC2 ERCC3 ERCC6 GTF2E1 GTF2E2
2
Show member pathways
12.93 ERCC2 ERCC3 GTF2E1 GTF2E2 GTF2H4 GTF2H5
3
Show member pathways
12.86 ASCC2 BRIP1 ERCC1 ERCC2 ERCC3 ERCC5
4
Show member pathways
12.8 ERCC2 ERCC3 GTF2E1 GTF2E2 GTF2H4 GTF2H5
5
Show member pathways
12.77 BRIP1 ERCC2 ERCC3 GTF2H4 GTF2H5
6
Show member pathways
12.59 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 GTF2H4
7
Show member pathways
12.45 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 XPA
8
Show member pathways
12.42 GTF2E1 GTF2E2 GTF2H4 GTF2H5
9 12.3 BRIP1 ERCC1 ERCC2 ERCC3 XPA
10 12.22 ERCC2 ERCC3 GTF2E1 HELLS
11
Show member pathways
12.19 ERCC2 ERCC3 GTF2H4 GTF2H5
12 12.06 GTF2E1 GTF2E2 GTF2H4
13 11.88 ERCC2 ERCC3 GTF2H4 GTF2H5 XPA
14
Show member pathways
11.76 ERCC2 ERCC3 ERCC6 GTF2H4 GTF2H5
15
Show member pathways
11.29 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 GTF2H4
16 11.01 GTF2E1 GTF2E2 GTF2H4 GTF2H5
17 10.82 ERCC1 ERCC2 ERCC3 ERCC6 XPA
18 10.65 BRIP1 ERCC2

GO Terms for Trichothiodystrophy 1, Photosensitive

Cellular components related to Trichothiodystrophy 1, Photosensitive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 holo TFIIH complex GO:0005675 9.46 ERCC2 ERCC3 ERCC5 GTF2H4
2 DNA replication factor A complex GO:0005662 9.4 ERCC5 XPA
3 nucleotide-excision repair factor 1 complex GO:0000110 9.37 ERCC1 XPA
4 core TFIIH complex GO:0000439 9.26 ERCC2 ERCC3 GTF2H4 GTF2H5
5 transcription factor TFIID complex GO:0005669 9.17 ERCC1 ERCC2 ERCC3 GTF2E1 GTF2E2 GTF2H4
6 nucleus GO:0005634 10.17 ASCC2 BRIP1 ERCC1 ERCC2 ERCC3 ERCC5
7 nucleoplasm GO:0005654 10.07 ASCC2 BRIP1 ERCC1 ERCC2 ERCC3 ERCC5

Biological processes related to Trichothiodystrophy 1, Photosensitive according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 response to oxidative stress GO:0006979 9.99 ERCC1 ERCC2 ERCC3 ERCC6 XPA
2 response to UV GO:0009411 9.95 ERCC2 ERCC3 ERCC5 ERCC6 XPA
3 transcription elongation from RNA polymerase I promoter GO:0006362 9.92 ERCC2 ERCC3 ERCC6 GTF2H4 GTF2H5
4 multicellular organism growth GO:0035264 9.91 ERCC1 ERCC2 ERCC6 XPA
5 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.91 ERCC2 ERCC3 GTF2H4 GTF2H5 XPA
6 global genome nucleotide-excision repair GO:0070911 9.91 ERCC1 ERCC2 ERCC3 GTF2H4 GTF2H5 XPA
7 nucleotide-excision repair GO:0006289 9.91 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H4 GTF2H5
8 7-methylguanosine mRNA capping GO:0006370 9.88 ERCC2 ERCC3 GTF2H4 GTF2H5
9 transcription initiation from RNA polymerase I promoter GO:0006361 9.88 ERCC2 ERCC3 GTF2H4 GTF2H5
10 nucleotide-excision repair, preincision complex assembly GO:0006294 9.88 ERCC2 ERCC3 ERCC5 GTF2H4 GTF2H5 XPA
11 termination of RNA polymerase I transcription GO:0006363 9.87 ERCC2 ERCC3 GTF2H4 GTF2H5
12 nucleotide-excision repair, DNA incision GO:0033683 9.87 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H4 GTF2H5
13 transcription-coupled nucleotide-excision repair GO:0006283 9.86 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 GTF2H4
14 UV protection GO:0009650 9.85 ERCC1 ERCC2 ERCC3 ERCC5 XPA
15 response to toxic substance GO:0009636 9.82 BRIP1 ERCC6 XPA
16 DNA duplex unwinding GO:0032508 9.8 BRIP1 ERCC2 GTF2H4
17 embryonic organ development GO:0048568 9.79 ERCC1 ERCC2 ERCC3
18 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.7 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H4 GTF2H5
19 base-excision repair GO:0006284 9.65 ERCC6 XPA
20 response to X-ray GO:0010165 9.65 ERCC1 ERCC6
21 UV-damage excision repair GO:0070914 9.64 ERCC1 XPA
22 regulation of mitotic cell cycle phase transition GO:1901990 9.64 ERCC2 ERCC3
23 hair cell differentiation GO:0035315 9.63 ERCC2 ERCC3
24 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.5 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H4 GTF2H5
25 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.17 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H4 GTF2H5
26 regulation of transcription, DNA-templated GO:0006355 10.28 ASCC2 ERCC2 ERCC3 ERCC6 GTF2E1 GTF2E2
27 transcription, DNA-templated GO:0006351 10.27 ASCC2 ERCC2 ERCC3 ERCC6 GTF2E1 GTF2E2
28 cellular response to DNA damage stimulus GO:0006974 10.15 BRIP1 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
29 transcription by RNA polymerase II GO:0006366 10.14 ERCC2 ERCC3 ERCC6 GTF2E1 GTF2E2 GTF2H4
30 DNA repair GO:0006281 10.13 BRIP1 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
31 transcription initiation from RNA polymerase II promoter GO:0006367 10.03 ERCC2 ERCC3 GTF2E1 GTF2E2 GTF2H4 GTF2H5
32 transcription elongation from RNA polymerase II promoter GO:0006368 10.01 ERCC2 ERCC3 GTF2E1 GTF2E2 GTF2H4 GTF2H5

Molecular functions related to Trichothiodystrophy 1, Photosensitive according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein C-terminus binding GO:0008022 9.67 ERCC1 ERCC2 ERCC3 ERCC6
2 protein N-terminus binding GO:0047485 9.62 ERCC2 ERCC3 ERCC5 ERCC6
3 damaged DNA binding GO:0003684 9.58 ERCC1 ERCC3 XPA
4 helicase activity GO:0004386 9.55 BRIP1 ERCC2 ERCC3 ERCC6 HELLS
5 ATP-dependent helicase activity GO:0008026 9.49 BRIP1 ERCC2
6 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.48 BRIP1 ERCC2
7 RNA polymerase II carboxy-terminal domain kinase activity GO:0008353 9.43 ERCC2 ERCC3 GTF2H4
8 DNA-dependent ATPase activity GO:0008094 9.26 ERCC2 ERCC3 ERCC6 GTF2H4
9 ATP-dependent DNA helicase activity GO:0004003 8.92 BRIP1 ERCC2 ERCC3 GTF2H4
10 protein binding GO:0005515 10.3 BRIP1 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
11 hydrolase activity GO:0016787 10.05 BRIP1 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
12 DNA binding GO:0003677 10.03 BRIP1 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6

Sources for Trichothiodystrophy 1, Photosensitive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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