MCID: TRC102
MIFTS: 51

Trichothiodystrophy 1, Photosensitive

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

Aliases & Classifications for Trichothiodystrophy 1, Photosensitive

MalaCards integrated aliases for Trichothiodystrophy 1, Photosensitive:

Name: Trichothiodystrophy 1, Photosensitive 57 75 29 6
Trichothiodystrophy 12 76 53 25 37 13 55 40
Ibids Syndrome 12 76 53 75
Tay Syndrome 57 12 53 75
Trichothiodystrophy with Congenital Ichthyosis 57 12 75
Photosensitive Trichothiodystrophy 12 15 73
Ichthyosiform Erythroderma with Hair Abnormality and Mental and Growth Retardation 57 75
Ichthyosis, Congenital, with Trichothiodystrophy 57 75
Trichothiodystrophy Syndromes 44 73
Pibids Syndrome 57 75
Ttd1 57 75
Ttdp 57 75
Trichothiodystrophy with Congenital Ichthyosis; Ichthyosis, Congenital, with Trichothiodystrophy 57
Ichthyosis with Brittle Hair, Intellectual Impairment, Decreased Fertility and Short Stature 75
Ichtyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature 53
Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome 25
Trichothiodystrophy with Congenital Ichtyosis 53
Trichothiodystrophy, Photosensitive; Ttdp 57
Sulfur-Deficient Brittle Hair Syndrome 12
Trichothiodystrophy, Photosensitive 57
Trichothiodystrophy Photosensitive 75
Amish Brittle Hair Brain Syndrome 73
Tricho-Thiodystrophy Disorder 73
Amish Brittle Hair Syndrome 25
Trichothiodystrophy, Type 1 73
Bids Syndrome 25
Pibids 25
Ibids 25
Ttd 25

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
skin neoplasia may appear later in life


HPO:

32
trichothiodystrophy 1, photosensitive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Trichothiodystrophy 1, Photosensitive

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 33364Disease definitionTrichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins).EpidemiologyThe exact prevalence of TTD is unknown, but it appears to be rather uncommon.Clinical descriptionWithin the spectrum of the TTD syndromes are numerous syndromes affecting mainly organs derived from the neuroectoderm. The clinical appearance is always characterized by brittle and fragile hair, often combined with growth retardation and intellectual deficit, congenital ichthyosis and nail abnormalities, among other symptoms. The abnormalities are usually obvious at birth, with variable clinical expression. The variants of TTD, depending on their different associations, are: BIDS syndrome (or TTD type D or Amish Brittle Hair syndrome), IBIDS syndrome (or Tay syndrome or TTD typeE), PIBIDS syndrome (or TTD type F), Sabinas syndrome (TTD type B), SIBIDS syndrome, ONMRS (Itin syndrome) and Pollitt syndrome (TTD type C).EtiologyAbout half of the patients with TTD exhibit marked photosensitivity, due to abnormalities in excision repair of ultraviolet (UV)-damaged DNA. In most cases, the deficiency in DNA excision repair is indistinguishable from that observed in Xeroderma Pigmentosum type D. In this photosensitive group of patients, the majority of cases (95% of patients) are due to mutations within the XPD (ERCC2) gene (localized to 19q13.2-q13.3). The remaining cases are caused by mutations within the XPB gene. These genes encode the DNA-dependent ATPase/helicase subunits of TFIIH (transcription factor). So far, no gene has been isolated for the nonphotosensitive group.Diagnostic methodsThe diagnostic findings of TTD are short, unruly, brittle hair, with alternating dark and light bands under polarizing microscopy (tiger-tail pattern), trichoschisis (or trichorrhexis), and an absent or defective cuticle visualized by scanning electron microscopy.Differential diagnosisTTD is a differential diagnosis in congenital alopecias.Antenatal diagnosisPrenatal diagnosis, based on measurement of DNA repair in trophoblasts or amniotic cells, is available.Genetic counselingTTD is an autosomal recessive disorder.Management and treatmentThere is no specific treatment.Visit the Orphanet disease page for more resources.

MalaCards based summary : Trichothiodystrophy 1, Photosensitive, also known as trichothiodystrophy, is related to trichothiodystrophy 4, nonphotosensitive and trichothiodystrophy 3, photosensitive, and has symptoms including photophobia and dry skin. 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 Basal transcription factors and DNA Double-Strand Break Repair. Affiliated tissues include testes, brain and skin, and related phenotypes are hypogonadism and microcephaly

Genetics Home Reference : 25 Trichothiodystrophy, which is commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is brittle hair that is sparse and easily broken. Tests show that the hair is lacking sulfur, an element that normally gives hair its strength.

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 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 29)
# Related Disease Score Top Affiliating Genes
1 trichothiodystrophy 4, nonphotosensitive 12.4
2 trichothiodystrophy 3, photosensitive 11.4
3 trichothiodystrophy 5, nonphotosensitive 11.2
4 trichothiodystrophy 2, photosensitive 11.2
5 xeroderma pigmentosum, complementation group c 10.5 ERCC3 XPA
6 cockayne syndrome type ii 10.4 ERCC1 ERCC6
7 xeroderma pigmentosum group e 10.4 ERCC1 XPA
8 mutagen sensitivity 10.4 ERCC2 XPA
9 xeroderma pigmentosum, complementation group e 10.3 ERCC5 XPA
10 xeroderma pigmentosum, complementation group a 10.3 ERCC1 XPA
11 cockayne syndrome b 10.2 ERCC2 ERCC6 XPA
12 acoustic neuroma 10.2 ERCC2 ERCC5
13 cerebrooculofacioskeletal syndrome 1 10.2 ERCC2 ERCC5 ERCC6
14 cockayne syndrome a 10.2 ERCC2 ERCC5 ERCC6
15 autosomal genetic disease 10.2 ERCC1 ERCC2 XPA
16 squamous cell carcinoma 10.0
17 nonphotosensitive trichothiodystrophy 9.9 ERCC3 GTF2E2 MPLKIP
18 diffuse gastric cancer 9.9 ERCC1 ERCC2
19 uv-sensitive syndrome 9.9 ERCC2 ERCC3 ERCC5 ERCC6
20 xeroderma pigmentosum, complementation group f 9.8 ERCC1 ERCC2 ERCC5 XPA
21 xeroderma pigmentosum, complementation group g 9.8 ERCC1 ERCC3 ERCC5 XPA
22 cerebro-oculo-facio-skeletal syndrome 9.5 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
23 baller-gerold syndrome 9.4 BRIP1 ERCC1
24 autosomal recessive disease 9.4 ERCC1 ERCC2 ERCC3 GTF2H5 MPLKIP XPA
25 xeroderma pigmentosum, complementation group b 9.2 ERCC1 ERCC2 ERCC3 GTF2H4 GTF2H5 XPA
26 xeroderma pigmentosum, variant type 9.1 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 XPA
27 fanconi anemia, complementation group a 9.1 BRIP1 ERCC1 ERCC2 HELLS
28 xeroderma pigmentosum, complementation group d 8.7 BRIP1 ERCC1 ERCC2 ERCC3 GTF2H5 XPA
29 cockayne syndrome 8.7 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:

57
Head And Neck Eyes:
nystagmus
cataract
photophobia
strabismus
microcornea (in some patients)
more
Growth Height:
short stature

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)

Abdomen Gastrointestinal:
malabsorption
chronic diarrhea

Skin Nails Hair Skin:
ichthyosis
dry skin
erythroderma
freckling
collodion baby
more
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:

32 (show all 40)
# Description HPO Frequency HPO Source Accession
1 hypogonadism 32 HP:0000135
2 microcephaly 32 HP:0000252
3 abnormality of the face 32 HP:0000271
4 retrognathia 32 HP:0000278
5 protruding ear 32 occasional (7.5%) HP:0000411
6 microcornea 32 occasional (7.5%) HP:0000482
7 strabismus 32 HP:0000486
8 cataract 32 HP:0000518
9 microphthalmia 32 occasional (7.5%) HP:0000568
10 photophobia 32 HP:0000613
11 nystagmus 32 HP:0000639
12 delayed speech and language development 32 HP:0000750
13 abnormality of the thorax 32 HP:0000765
14 dry skin 32 HP:0000958
15 cutaneous photosensitivity 32 HP:0000992
16 erythroderma 32 HP:0001019
17 keratoconjunctivitis sicca 32 occasional (7.5%) HP:0001097
18 intellectual disability 32 HP:0001249
19 flexion contracture 32 HP:0001371
20 freckling 32 HP:0001480
21 small for gestational age 32 HP:0001518
22 small nail 32 HP:0001792
23 fragile nails 32 HP:0001808
24 malabsorption 32 HP:0002024
25 chronic diarrhea 32 HP:0002028
26 asthma 32 HP:0002099
27 fine hair 32 HP:0002213
28 brittle hair 32 HP:0002299
29 basal cell carcinoma 32 HP:0002671
30 recurrent infections 32 HP:0002719
31 squamous cell carcinoma 32 HP:0002860
32 igg deficiency 32 HP:0004315
33 short stature 32 HP:0004322
34 intestinal obstruction 32 HP:0005214
35 congenital nonbullous ichthyosiform erythroderma 32 HP:0007479
36 lack of subcutaneous fatty tissue 32 HP:0007519
37 sparse hair 32 HP:0008070
38 nail dystrophy 32 HP:0008404
39 trichorrhexis nodosa 32 HP:0009886
40 abnormality of hair texture 32 HP:0010719

UMLS symptoms related to Trichothiodystrophy 1, Photosensitive:


photophobia, dry skin

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.28 BRIP1 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6

MGI Mouse Phenotypes related to Trichothiodystrophy 1, Photosensitive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.7 ERCC6 HELLS XPA ERCC1 ERCC2 ERCC3
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 29 ERCC2

Anatomical Context for Trichothiodystrophy 1, Photosensitive

MalaCards organs/tissues related to Trichothiodystrophy 1, Photosensitive:

41
Testes, Brain, Skin, Cortex, Eye

Publications for Trichothiodystrophy 1, Photosensitive

Articles related to Trichothiodystrophy 1, Photosensitive:

# Title Authors Year
1
Defective transcription/repair factor IIH recruitment to specific UV lesions in trichothiodystrophy syndrome. ( 18676829 )
2008

Variations for Trichothiodystrophy 1, Photosensitive

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

75 (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 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 GTF2H5 NM_207118.2(GTF2H5): c.166C> T (p.Arg56Ter) single nucleotide variant Pathogenic rs121434364 GRCh37 Chromosome 6, 158613139: 158613139
2 GTF2H5 NM_207118.2(GTF2H5): c.166C> T (p.Arg56Ter) single nucleotide variant Pathogenic rs121434364 GRCh38 Chromosome 6, 158192107: 158192107
3 GTF2H5 NM_207118.2(GTF2H5): c.62T> C (p.Leu21Pro) single nucleotide variant Pathogenic rs121434365 GRCh37 Chromosome 6, 158613035: 158613035
4 GTF2H5 NM_207118.2(GTF2H5): c.62T> C (p.Leu21Pro) single nucleotide variant Pathogenic rs121434365 GRCh38 Chromosome 6, 158192003: 158192003
5 ERCC2 NM_000400.3(ERCC2): c.1381C> G (p.Leu461Val) single nucleotide variant Pathogenic rs121913016 GRCh37 Chromosome 19, 45860626: 45860626
6 ERCC2 NM_000400.3(ERCC2): c.1381C> G (p.Leu461Val) single nucleotide variant Pathogenic rs121913016 GRCh38 Chromosome 19, 45357368: 45357368
7 ERCC2 NM_000400.3(ERCC2): c.2173G> C (p.Ala725Pro) single nucleotide variant Pathogenic rs121913018 GRCh37 Chromosome 19, 45855484: 45855484
8 ERCC2 NM_000400.3(ERCC2): c.2173G> C (p.Ala725Pro) single nucleotide variant Pathogenic rs121913018 GRCh38 Chromosome 19, 45352226: 45352226
9 ERCC2 NM_000400.3(ERCC2): c.335G> A (p.Arg112His) single nucleotide variant Pathogenic rs121913020 GRCh37 Chromosome 19, 45871913: 45871913
10 ERCC2 NM_000400.3(ERCC2): c.335G> A (p.Arg112His) single nucleotide variant Pathogenic rs121913020 GRCh38 Chromosome 19, 45368655: 45368655
11 ERCC2 NM_000400.3(ERCC2): c.1972C> T (p.Arg658Cys) single nucleotide variant Pathogenic rs121913021 GRCh37 Chromosome 19, 45855838: 45855838
12 ERCC2 NM_000400.3(ERCC2): c.1972C> T (p.Arg658Cys) single nucleotide variant Pathogenic rs121913021 GRCh38 Chromosome 19, 45352580: 45352580
13 ERCC2 NM_000400.3(ERCC2): c.2137G> C (p.Gly713Arg) single nucleotide variant Pathogenic rs121913022 GRCh37 Chromosome 19, 45855520: 45855520
14 ERCC2 NM_000400.3(ERCC2): c.2137G> C (p.Gly713Arg) single nucleotide variant Pathogenic rs121913022 GRCh38 Chromosome 19, 45352262: 45352262
15 ERCC2 NM_000400.3(ERCC2): c.2164C> T (p.Arg722Trp) single nucleotide variant Pathogenic rs121913026 GRCh37 Chromosome 19, 45855493: 45855493
16 ERCC2 NM_000400.3(ERCC2): c.2164C> T (p.Arg722Trp) single nucleotide variant Pathogenic rs121913026 GRCh38 Chromosome 19, 45352235: 45352235
17 MPLKIP NM_138701.3(MPLKIP): c.505dupA (p.Thr169Asnfs) duplication Pathogenic rs768342562 GRCh37 Chromosome 7, 40172693: 40172693
18 MPLKIP NM_138701.3(MPLKIP): c.505dupA (p.Thr169Asnfs) duplication Pathogenic rs768342562 GRCh38 Chromosome 7, 40133094: 40133094
19 ERCC2 NM_000400.3(ERCC2): c.1847G> C (p.Arg616Pro) single nucleotide variant Pathogenic/Likely pathogenic rs376556895 GRCh38 Chromosome 19, 45352801: 45352801
20 ERCC2 NM_000400.3(ERCC2): c.1847G> C (p.Arg616Pro) single nucleotide variant Pathogenic/Likely pathogenic rs376556895 GRCh37 Chromosome 19, 45856059: 45856059
21 ERCC2 NM_000400.3(ERCC2): c.594+2_594+5delTGAG deletion Likely pathogenic rs762309206 GRCh37 Chromosome 19, 45868091: 45868094
22 ERCC2 NM_000400.3(ERCC2): c.594+2_594+5delTGAG deletion Likely pathogenic rs762309206 GRCh38 Chromosome 19, 45364833: 45364836
23 ERCC2 NM_000400.3(ERCC2): c.2046+1G> T single nucleotide variant Pathogenic rs774768228 GRCh37 Chromosome 19, 45855763: 45855763
24 ERCC2 NM_000400.3(ERCC2): c.2046+1G> T single nucleotide variant Pathogenic rs774768228 GRCh38 Chromosome 19, 45352505: 45352505

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 KEGG:

37
# Name Kegg Source Accession
1 Basal transcription factors hsa03022

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.86 ASCC2 BRIP1 ERCC1 ERCC2 ERCC3 ERCC5
2
Show member pathways
12.75 ERCC2 ERCC3 GTF2E2 GTF2H4 GTF2H5
3
Show member pathways
12.69 BRIP1 ERCC2 ERCC3 GTF2H4 GTF2H5
4
Show member pathways
12.59 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 GTF2H4
5
Show member pathways
12.49 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 XPA
6 12.3 BRIP1 ERCC1 ERCC2 ERCC3 XPA
7 11.85 ERCC2 ERCC3 GTF2H4 GTF2H5 XPA
8
Show member pathways
11.76 ERCC2 ERCC3 ERCC6 GTF2H4 GTF2H5
9
Show member pathways
11.29 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 GTF2H4
10 10.82 ERCC1 ERCC2 ERCC3 ERCC6 XPA
11 10.57 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 9.32 ERCC1 XPA
4 core TFIIH complex GO:0000439 9.26 ERCC2 ERCC3 GTF2H4 GTF2H5
5 transcription factor TFIID complex GO:0005669 9.1 ERCC1 ERCC2 ERCC3 GTF2E2 GTF2H4 GTF2H5
6 nucleus GO:0005634 10.18 ASCC2 BRIP1 ERCC1 ERCC2 ERCC3 ERCC5
7 nucleoplasm GO:0005654 10.03 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 transcription initiation from RNA polymerase II promoter GO:0006367 9.99 ERCC2 ERCC3 GTF2E2 GTF2H4 GTF2H5
2 response to oxidative stress GO:0006979 9.98 ERCC1 ERCC2 ERCC3 ERCC6 XPA
3 transcription elongation from RNA polymerase II promoter GO:0006368 9.95 ERCC2 ERCC3 GTF2E2 GTF2H4 GTF2H5
4 response to UV GO:0009411 9.93 ERCC2 ERCC3 ERCC5 ERCC6 XPA
5 transcription elongation from RNA polymerase I promoter GO:0006362 9.92 ERCC2 ERCC3 ERCC6 GTF2H4 GTF2H5
6 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.91 ERCC2 ERCC3 GTF2H4 GTF2H5 XPA
7 global genome nucleotide-excision repair GO:0070911 9.91 ERCC1 ERCC2 ERCC3 GTF2H4 GTF2H5 XPA
8 nucleotide-excision repair GO:0006289 9.91 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H4 GTF2H5
9 multicellular organism growth GO:0035264 9.9 ERCC1 ERCC2 ERCC6 XPA
10 7-methylguanosine mRNA capping GO:0006370 9.88 ERCC2 ERCC3 GTF2H4 GTF2H5
11 nucleotide-excision repair, preincision complex assembly GO:0006294 9.88 ERCC2 ERCC3 ERCC5 GTF2H4 GTF2H5 XPA
12 transcription initiation from RNA polymerase I promoter GO:0006361 9.87 ERCC2 ERCC3 GTF2H4 GTF2H5
13 nucleotide-excision repair, DNA incision GO:0033683 9.87 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H4 GTF2H5
14 termination of RNA polymerase I transcription GO:0006363 9.86 ERCC2 ERCC3 GTF2H4 GTF2H5
15 UV protection GO:0009650 9.85 ERCC1 ERCC2 ERCC3 ERCC5 XPA
16 response to toxic substance GO:0009636 9.82 BRIP1 ERCC6 XPA
17 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.8 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H4 GTF2H5
18 DNA duplex unwinding GO:0032508 9.79 BRIP1 ERCC2 GTF2H4
19 embryonic organ development GO:0048568 9.79 ERCC1 ERCC2 ERCC3
20 transcription-coupled nucleotide-excision repair GO:0006283 9.76 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 GTF2H4
21 base-excision repair GO:0006284 9.65 ERCC6 XPA
22 response to X-ray GO:0010165 9.65 ERCC1 ERCC6
23 UV-damage excision repair GO:0070914 9.63 ERCC1 XPA
24 regulation of mitotic cell cycle phase transition GO:1901990 9.63 ERCC2 ERCC3
25 hair cell differentiation GO:0035315 9.62 ERCC2 ERCC3
26 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.5 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H4 GTF2H5
27 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.17 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H4 GTF2H5
28 regulation of transcription, DNA-templated GO:0006355 10.25 ASCC2 ERCC2 ERCC3 ERCC6 GTF2E2 GTF2H4
29 transcription, DNA-templated GO:0006351 10.24 ASCC2 ERCC2 ERCC3 ERCC6 GTF2E2 GTF2H4
30 cellular response to DNA damage stimulus GO:0006974 10.15 BRIP1 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
31 DNA repair GO:0006281 10.13 BRIP1 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
32 transcription by RNA polymerase II GO:0006366 10.08 ERCC2 ERCC3 ERCC6 GTF2E2 GTF2H4 GTF2H5

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

(show all 11)
# 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 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.49 BRIP1 ERCC2
6 ATP-dependent helicase activity GO:0008026 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 DNA binding GO:0003677 10.03 BRIP1 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
11 hydrolase activity GO:0016787 10 BRIP1 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6

Sources for Trichothiodystrophy 1, Photosensitive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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