TTD1
MCID: TRC102
MIFTS: 49

Trichothiodystrophy 1, Photosensitive (TTD1)

Categories: Genetic diseases, Neuronal diseases, Reproductive diseases

Aliases & Classifications for Trichothiodystrophy 1, Photosensitive

MalaCards integrated aliases for Trichothiodystrophy 1, Photosensitive:

Name: Trichothiodystrophy 1, Photosensitive 57 72 29 6
Trichothiodystrophy with Congenital Ichthyosis 57 12 72
Photosensitive Trichothiodystrophy 12 15 70
Ibids Syndrome 12 73 72
Tay Syndrome 57 12 72
Ttd1 57 12 72
Ichthyosiform Erythroderma with Hair Abnormality and Mental and Growth Retardation 57 72
Ichthyosis, Congenital, with Trichothiodystrophy 57 72
Photosensitive Trichothiodystrophy 1 12 15
Pibids Syndrome 57 72
Ttdp 57 72
Trichothiodystrophy with Congenital Ichthyosis; Ichthyosis, Congenital, with Trichothiodystrophy 57
Ichthyosis with Brittle Hair, Intellectual Impairment, Decreased Fertility and Short Stature 72
Trichothiodystrophy, Photosensitive; Ttdp 57
Sulfur-Deficient Brittle Hair Syndrome 12
Trichothiodystrophy, Photosensitive 57
Trichothiodystrophy Photosensitive 72
Amish Brittle Hair Brain Syndrome 70
Trichothiodystrophy Syndromes 70
Tricho-Thiodystrophy Disorder 70
Trichothiodystrophy, Type 1 70
Ttd-P 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® : 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) (Updated 05-Apr-2021)

MalaCards based summary : Trichothiodystrophy 1, Photosensitive, also known as trichothiodystrophy with congenital ichthyosis, is related to trichothiodystrophy 2, photosensitive 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 Nucleotide excision repair and RNA Polymerase I Promoter Escape. Affiliated tissues include brain, skin and eye, and related phenotypes are microphthalmia and protruding ear

Disease Ontology : 12 A photosensitive trichothiodystrophy that has material basis in homozygous or compound heterozygous mutation in ERCC2 on chromosome 19q13.32.

UniProtKB/Swiss-Prot : 72 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 : 73 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 31)
# Related Disease Score Top Affiliating Genes
1 trichothiodystrophy 2, photosensitive 32.7 MPLKIP GTF2H5 ERCC3
2 trichothiodystrophy 3, photosensitive 32.3 MPLKIP GTF2H5 ERCC6 ERCC3 ERCC2
3 nonphotosensitive trichothiodystrophy 30.3 MPLKIP FAM120C EFL1
4 trichothiodystrophy 30.0 MPLKIP GTF2H5 ERCC6 ERCC3 ERCC2
5 ichthyosis 29.9 MPLKIP KRT1 GTF2H5 ERCC3 ERCC2
6 trichothiodystrophy 5, nonphotosensitive 10.9
7 xeroderma pigmentosum-cockayne syndrome complex 10.2 ERCC3 ERCC2
8 ifap syndrome 1, with or without bresheck syndrome 10.2 MPLKIP GTF2H5 ERCC3
9 cerebro-oculo-facio-skeletal syndrome 10.2 ERCC6 ERCC3 ERCC2
10 xfe progeroid syndrome 10.1 GTF2H5 ERCC6 ERCC3
11 xeroderma pigmentosum, complementation group f 10.1 ERCC6 ERCC3 ERCC2
12 trichothiodystrophy 4, nonphotosensitive 10.1 MPLKIP GTF2H5 FAM120C EFL1
13 xeroderma pigmentosum group e 10.1 GTF2H5 ERCC6 ERCC3 ERCC2
14 xeroderma pigmentosum, complementation group d 10.1 GTF2H5 ERCC6 ERCC3 ERCC2
15 xeroderma pigmentosum, complementation group g 10.1 GTF2H5 ERCC6 ERCC3 ERCC2
16 cerebrooculofacioskeletal syndrome 1 10.1 ERCC6 ERCC2
17 disease by infectious agent 10.0
18 skin carcinoma 10.0
19 cataract 10.0
20 xeroderma pigmentosum, complementation group b 10.0 MPLKIP GTF2H5 ERCC6 ERCC3 ERCC2
21 uv-sensitive syndrome 10.0 MPLKIP GTF2H5 ERCC6 ERCC3 ERCC2
22 autosomal recessive disease 9.9 MPLKIP GTF2H5 ERCC6 ERCC3 ERCC2
23 xeroderma pigmentosum, variant type 9.9 MPLKIP GTF2H5 ERCC6 ERCC3 ERCC2
24 legg-calve-perthes disease 9.9
25 hypogonadism 9.9
26 spasticity 9.9
27 acrokeratoderma, hereditary papulotranslucent 9.8 VIP KRT1
28 endocrine pancreas disease 9.8 VIP PPY
29 endometrial small cell carcinoma 9.8 VIP PPY
30 pancreatic cholera 9.7 VIP PPY
31 functional gastric disease 9.6 VIP PPY

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



Diseases related to Trichothiodystrophy 1, Photosensitive

Symptoms & Phenotypes for Trichothiodystrophy 1, Photosensitive

Human phenotypes related to Trichothiodystrophy 1, Photosensitive:

31 (show all 43)
# Description HPO Frequency HPO Source Accession
1 microphthalmia 31 occasional (7.5%) HP:0000568
2 protruding ear 31 occasional (7.5%) HP:0000411
3 microcornea 31 occasional (7.5%) HP:0000482
4 keratoconjunctivitis sicca 31 occasional (7.5%) HP:0001097
5 intellectual disability 31 HP:0001249
6 nystagmus 31 HP:0000639
7 cataract 31 HP:0000518
8 delayed speech and language development 31 HP:0000750
9 malabsorption 31 HP:0002024
10 microcephaly 31 HP:0000252
11 short stature 31 HP:0004322
12 flexion contracture 31 HP:0001371
13 photophobia 31 HP:0000613
14 hyperkeratosis 31 HP:0000962
15 strabismus 31 HP:0000486
16 dry skin 31 HP:0000958
17 retrognathia 31 HP:0000278
18 fine hair 31 HP:0002213
19 asthma 31 HP:0002099
20 chronic diarrhea 31 HP:0002028
21 freckling 31 HP:0001480
22 cutaneous photosensitivity 31 HP:0000992
23 intestinal obstruction 31 HP:0005214
24 erythroderma 31 HP:0001019
25 sparse hair 31 HP:0008070
26 basal cell carcinoma 31 HP:0002671
27 recurrent infections 31 HP:0002719
28 trichorrhexis nodosa 31 HP:0009886
29 nail dystrophy 31 HP:0008404
30 hypogonadism 31 HP:0000135
31 small for gestational age 31 HP:0001518
32 small nail 31 HP:0001792
33 fragile nails 31 HP:0001808
34 squamous cell carcinoma 31 HP:0002860
35 congenital nonbullous ichthyosiform erythroderma 31 HP:0007479
36 telangiectasia 31 HP:0001009
37 brittle hair 31 HP:0002299
38 abnormality of hair texture 31 HP:0010719
39 decreased circulating igg level 31 HP:0004315
40 triangular mouth 31 HP:0000207
41 absence of subcutaneous fat 31 HP:0007485
42 tiger tail banding 31 HP:0045055
43 abnormal thorax morphology 31 HP:0000765

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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
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 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
freckling
erythroderma
collodion baby
more
Neoplasia:
basal cell carcinoma
squamous cell carcinoma

Skin Nails Hair Nails:
hypoplastic nails
dystrophic nails
brittle nails

Growth Weight:
low birth weight

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 (Updated 05-Apr-2021)

UMLS symptoms related to Trichothiodystrophy 1, Photosensitive:


photophobia; dry skin

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

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.74 PLK1
2 Decreased viability GR00055-A-2 9.74 PLK1
3 Decreased viability GR00055-A-3 9.74 PLK1
4 Decreased viability GR00154-A 9.74 PLK1
5 Decreased viability GR00173-A 9.74 PLK1
6 Decreased viability GR00221-A-2 9.74 PLK1
7 Decreased viability GR00231-A 9.74 PLK1
8 Decreased viability GR00240-S-1 9.74 PLK1
9 Decreased viability GR00249-S 9.74 GAS2 HNF1B PLK1 TUBG1
10 Decreased viability GR00301-A 9.74 PLK1
11 Decreased viability GR00381-A-1 9.74 MPLKIP
12 Decreased viability GR00386-A-1 9.74 ERCC3 ERCC6 GTF2H5 HNF1B MPLKIP PLK1
13 Decreased viability GR00402-S-2 9.74 MPLKIP PLK1 RAB3D STAP2
14 Decreased TP53 mRNA expression GR00389-S-5 9.26 ERCC6 PLK1
15 Decreased TP53 mRNA expression GR00389-S-6 9.26 ERCC6 PLK1

MGI Mouse Phenotypes related to Trichothiodystrophy 1, Photosensitive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.44 ACLY EFL1 ERCC2 ERCC3 ERCC6 GPC3

Drugs & Therapeutics for Trichothiodystrophy 1, Photosensitive

Interventional clinical trials:


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

Search NIH Clinical Center for Trichothiodystrophy 1, Photosensitive

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:

40
Brain, Skin, Eye, Cortex, Liver

Publications for Trichothiodystrophy 1, Photosensitive

Articles related to Trichothiodystrophy 1, Photosensitive:

(show all 28)
# Title Authors PMID Year
1
Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. 6 57
11709541 2001
2
A temperature-sensitive disorder in basal transcription and DNA repair in humans. 6 57
11242112 2001
3
Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity. 57 6
9758621 1998
4
DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient. 6 57
9195225 1997
5
Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy. 57 6
8571952 1996
6
Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. 6 57
7849702 1994
7
XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression. 57
23221806 2013
8
Ocular manifestations of trichothiodystrophy. 57
21959366 2011
9
Trichothiodystrophy view from the molecular basis of DNA repair/transcription factor TFIIH. 57
19808800 2009
10
Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations. 57
18603627 2008
11
Premature aging in mice deficient in DNA repair and transcription. 57
11950998 2002
12
Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy. 57
11734544 2001
13
Trichothiodystrophy without associated neuroectodermal defects. 57
9764166 1998
14
The genetic basis of xeroderma pigmentosum and trichothiodystrophy syndromes. 57
8783572 1996
15
Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D. 57
7802014 1994
16
Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy. 6
7920640 1994
17
Tay or IBIDS syndrome. A case with growth and mental retardation, congenital ichthyosis and brittle hair. 57
1785299 1991
18
Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias. 57
2189905 1990
19
Search for consanguinity within and among families of patients with trichothiodystrophy associated with xeroderma pigmentosum. 57
2308151 1990
20
Trichothiodystrophy, xeroderma pigmentosum and PIBI(D)S syndrome. 57
3338790 1988
21
Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases. 57
6492094 1984
22
The Tay syndrome (congenital ichthyosis with trichothiodystrophy). 57
6538137 1984
23
Trichothiodystrophy--BIDS, IBIDS and PIBIDS? 57
6824580 1983
24
Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex. 57
7458366 1980
25
Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder. 57
5120162 1971
26
hiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification Markers. 61
33670118 2021
27
Hospital Expenditure at the End-of-Life: A Time-to-Death Approach. 61
32610810 2020
28
Subclassification and Detection of New Markers for the Discrimination of Primary Liver Tumors by Gene Expression Analysis Using Oligonucleotide Arrays. 61
29271183 2018

Variations for Trichothiodystrophy 1, Photosensitive

ClinVar genetic disease variations for Trichothiodystrophy 1, Photosensitive:

6 (show all 28)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ERCC2 NM_000400.3(ERCC2):c.2173G>C (p.Ala725Pro) SNV Pathogenic 16781 rs121913018 GRCh37: 19:45855484-45855484
GRCh38: 19:45352226-45352226
2 ERCC2 NM_000400.3(ERCC2):c.1972C>T (p.Arg658Cys) SNV Pathogenic 16785 rs121913021 GRCh37: 19:45855838-45855838
GRCh38: 19:45352580-45352580
3 ERCC2 NM_000400.3(ERCC2):c.2137G>C (p.Gly713Arg) SNV Pathogenic 16786 rs121913022 GRCh37: 19:45855520-45855520
GRCh38: 19:45352262-45352262
4 MPLKIP NM_138701.4(MPLKIP):c.505dup (p.Thr169fs) Duplication Pathogenic 218158 rs768342562 GRCh37: 7:40172692-40172693
GRCh38: 7:40133093-40133094
5 ERCC2 NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp) SNV Pathogenic 16792 rs121913026 GRCh37: 19:45855493-45855493
GRCh38: 19:45352235-45352235
6 ERCC2 NM_000400.3(ERCC2):c.1847G>C (p.Arg616Pro) SNV Pathogenic 329508 rs376556895 GRCh37: 19:45856059-45856059
GRCh38: 19:45352801-45352801
7 ERCC2 NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp) SNV Pathogenic 16792 rs121913026 GRCh37: 19:45855493-45855493
GRCh38: 19:45352235-45352235
8 ERCC2 NM_000400.3(ERCC2):c.335G>A (p.Arg112His) SNV Pathogenic 16784 rs121913020 GRCh37: 19:45871913-45871913
GRCh38: 19:45368655-45368655
9 ERCC2 NM_000400.3(ERCC2):c.1381C>G (p.Leu461Val) SNV Pathogenic 16779 rs121913016 GRCh37: 19:45860626-45860626
GRCh38: 19:45357368-45357368
10 ERCC2 NM_000400.3(ERCC2):c.2150C>G (p.Ala717Gly) SNV Pathogenic 134102 rs144564120 GRCh37: 19:45855507-45855507
GRCh38: 19:45352249-45352249
11 ERCC2 NM_000400.4(ERCC2):c.2190+1del Deletion Pathogenic 1028730 GRCh37: 19:45855466-45855466
GRCh38: 19:45352208-45352208
12 ERCC2 NM_000400.3(ERCC2):c.2047C>T (p.Arg683Trp) SNV Pathogenic 16793 rs41556519 GRCh37: 19:45855610-45855610
GRCh38: 19:45352352-45352352
13 ERCC2 NM_000400.4(ERCC2):c.334C>T (p.Arg112Cys) SNV Likely pathogenic 1028731 GRCh37: 19:45871914-45871914
GRCh38: 19:45368656-45368656
14 ERCC2 NM_000400.3(ERCC2):c.594+2_594+5del Deletion Likely pathogenic 402226 rs762309206 GRCh37: 19:45868091-45868094
GRCh38: 19:45364833-45364836
15 ERCC2 NM_000400.3(ERCC2):c.1887G>C (p.Gln629His) SNV Uncertain significance 134099 rs200665173 GRCh37: 19:45856019-45856019
GRCh38: 19:45352761-45352761
16 ERCC2 NM_000400.4(ERCC2):c.1339G>A (p.Val447Ile) SNV Uncertain significance 894684 GRCh37: 19:45860770-45860770
GRCh38: 19:45357512-45357512
17 ERCC2 NM_000400.4(ERCC2):c.1425_1426insAAGATCCTGGA (p.Val476fs) Insertion Uncertain significance 998350 GRCh37: 19:45860581-45860582
GRCh38: 19:45357323-45357324
18 ERCC2 NM_000400.4(ERCC2):c.1119-85G>A SNV Uncertain significance 997453 GRCh37: 19:45864985-45864985
GRCh38: 19:45361727-45361727
19 ERCC2 NM_000400.4(ERCC2):c.1832T>C (p.Val611Ala) SNV Uncertain significance 893461 GRCh37: 19:45856074-45856074
GRCh38: 19:45352816-45352816
20 ERCC2 NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln) SNV Uncertain significance 997520 GRCh37: 19:45856059-45856059
GRCh38: 19:45352801-45352801
21 ERCC2 NM_000400.4(ERCC2):c.1832-3C>G SNV Uncertain significance 997550 GRCh37: 19:45856077-45856077
GRCh38: 19:45352819-45352819
22 ERCC2 NM_000400.4(ERCC2):c.1238-1192G>A SNV Uncertain significance 997570 GRCh37: 19:45862149-45862149
GRCh38: 19:45358891-45358891
23 ERCC2 NM_000400.4(ERCC2):c.595-10G>A SNV Uncertain significance 1029821 GRCh37: 19:45867815-45867815
GRCh38: 19:45364557-45364557
24 ERCC2 NM_000400.3(ERCC2):c.679C>T (p.Arg227Cys) SNV Uncertain significance 134116 rs137910235 GRCh37: 19:45867721-45867721
GRCh38: 19:45364463-45364463
25 ERCC2 NM_000400.4(ERCC2):c.553C>T (p.Arg185Trp) SNV Uncertain significance 998351 GRCh37: 19:45868137-45868137
GRCh38: 19:45364879-45364879
26 ERCC2 NM_000400.4(ERCC2):c.2191-4G>A SNV Uncertain significance 785627 rs201840907 GRCh37: 19:45854983-45854983
GRCh38: 19:45351725-45351725
27 ERCC2 NM_000400.3(ERCC2):c.1887G>C (p.Gln629His) SNV Uncertain significance 134099 rs200665173 GRCh37: 19:45856019-45856019
GRCh38: 19:45352761-45352761
28 ERCC2 NM_000400.3(ERCC2):c.47A>G (p.Tyr16Cys) SNV Uncertain significance 134098 rs147972150 GRCh37: 19:45873449-45873449
GRCh38: 19:45370191-45370191

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

72 (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

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.52 GTF2H5 ERCC6 ERCC3 ERCC2
2
Show member pathways
10.97 GTF2H5 ERCC6 ERCC3 ERCC2
3 10.59 ERCC6 ERCC3 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 cytoskeleton GO:0005856 9.8 TUBG1 PLK1 MPLKIP KRT1 GAS2 ERCC2
2 transcription factor TFIID complex GO:0005669 9.33 GTF2H5 ERCC3 ERCC2
3 transcription factor TFIIH holo complex GO:0005675 9.13 GTF2H5 ERCC3 ERCC2
4 transcription factor TFIIH core complex GO:0000439 8.8 GTF2H5 ERCC3 ERCC2

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.87 GTF2H5 ERCC6 ERCC3 ERCC2
2 response to oxidative stress GO:0006979 9.78 KRT1 ERCC6 ERCC3 ERCC2
3 DNA duplex unwinding GO:0032508 9.77 ERCC6 ERCC3 ERCC2
4 regulation of mitotic cell cycle phase transition GO:1901990 9.76 PLK1 ERCC3 ERCC2
5 transcription elongation from RNA polymerase II promoter GO:0006368 9.75 GTF2H5 ERCC3 ERCC2
6 response to UV GO:0009411 9.72 ERCC6 ERCC3 ERCC2
7 nucleotide-excision repair GO:0006289 9.71 GTF2H5 ERCC3 ERCC2
8 nucleotide-excision repair, DNA incision GO:0033683 9.7 GTF2H5 ERCC3 ERCC2
9 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.69 GTF2H5 ERCC3 ERCC2
10 transcription initiation from RNA polymerase I promoter GO:0006361 9.67 GTF2H5 ERCC3 ERCC2
11 7-methylguanosine mRNA capping GO:0006370 9.63 GTF2H5 ERCC3 ERCC2
12 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.61 HNF1B ERCC6
13 termination of RNA polymerase I transcription GO:0006363 9.61 GTF2H5 ERCC3 ERCC2
14 UV protection GO:0009650 9.6 ERCC3 ERCC2
15 nucleotide-excision repair, preincision complex assembly GO:0006294 9.58 GTF2H5 ERCC3 ERCC2
16 hair cell differentiation GO:0035315 9.56 ERCC3 ERCC2
17 global genome nucleotide-excision repair GO:0070911 9.54 GTF2H5 ERCC3 ERCC2
18 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.5 GTF2H5 ERCC3 ERCC2
19 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.43 GTF2H5 ERCC3 ERCC2
20 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.33 GTF2H5 ERCC3 ERCC2
21 transcription-coupled nucleotide-excision repair GO:0006283 9.26 GTF2H5 ERCC6 ERCC3 ERCC2
22 transcription elongation from RNA polymerase I promoter GO:0006362 8.92 GTF2H5 ERCC6 ERCC3 ERCC2

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

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.67 TUBG1 RAB3D EFL1 ARL2
2 GTPase activity GO:0003924 9.56 TUBG1 RAB3D EFL1 ARL2
3 helicase activity GO:0004386 9.5 ERCC6 ERCC3 ERCC2
4 protein N-terminus binding GO:0047485 9.33 ERCC6 ERCC3 ERCC2
5 nucleotide binding GO:0000166 9.28 TUBG1 RAB3D PLK1 ERCC6 ERCC3 ERCC2
6 DNA helicase activity GO:0003678 9.13 ERCC6 ERCC3 ERCC2

Sources for Trichothiodystrophy 1, Photosensitive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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