TTD1
MCID: TRC102
MIFTS: 61

Trichothiodystrophy 1, Photosensitive (TTD1)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Skin 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 29 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 cerebrooculofacioskeletal syndrome 1 and nonphotosensitive trichothiodystrophy, 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 Formation of HIV-1 elongation complex containing HIV-1 Tat. Affiliated tissues include skin, brain and testes, and related phenotypes are nystagmus and intellectual disability

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 top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 cerebrooculofacioskeletal syndrome 1 31.6 ERCC2 ERCC5 ERCC6
2 nonphotosensitive trichothiodystrophy 31.5 ERCC3 GTF2E2 MPLKIP
3 xeroderma pigmentosum, variant type 30.4 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 HELLS
4 xeroderma pigmentosum, complementation group c 30.1 ERCC3 XPA
5 cockayne syndrome a 29.9 ERCC2 ERCC5 ERCC6
6 cockayne syndrome 29.8 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 HELLS
7 xeroderma pigmentosum, complementation group d 29.7 ERCC1 ERCC2 ERCC3 GTF2H5 XPA
8 trichothiodystrophy 6, nonphotosensitive 12.4
9 trichothiodystrophy 2, photosensitive 11.6
10 trichothiodystrophy 3, photosensitive 11.6
11 trichothiodystrophy 5, nonphotosensitive 11.3
12 trichothiodystrophy 4, nonphotosensitive 11.2
13 sabinas brittle hair syndrome 11.0
14 cerebrooculofacioskeletal syndrome 2 11.0
15 cerebrooculofacioskeletal syndrome 4 11.0
16 cerebrooculofacioskeletal syndrome 3 11.0
17 colorectal cancer 10.2
18 aging 10.2
19 cockayne syndrome type ii 10.1 ERCC1 ERCC6
20 mutagen sensitivity 10.1 ERCC2 XPA
21 xeroderma pigmentosum, complementation group e 10.1 ERCC5 XPA
22 xeroderma pigmentosum, complementation group a 10.1 ERCC1 XPA
23 squamous cell carcinoma 10.1
24 diffuse gastric cancer 10.0 ERCC1 ERCC2
25 autosomal genetic disease 10.0 ERCC1 ERCC2 XPA
26 pulmonary alveolar microlithiasis 10.0
27 colorectal adenocarcinoma 10.0
28 adenocarcinoma 10.0
29 ichthyosis lamellar 1 9.9
30 xeroderma pigmentosum, complementation group f 9.9 ERCC1 ERCC2 ERCC5 XPA
31 uv-sensitive syndrome 9.9 ERCC2 ERCC3 ERCC5 ERCC6
32 autosomal recessive disease 9.9 ERCC2 ERCC3 GTF2H5 MPLKIP XPA
33 keratitis-ichthyosis-deafness syndrome, autosomal dominant 9.9
34 monilethrix 9.9
35 ringed hair 9.9
36 autism 9.9
37 cataract 9.9
38 neutropenia 9.9
39 osteoarthritis 9.9
40 mitral valve insufficiency 9.9
41 myopia 9.9
42 hair disease 9.9
43 lymphopenia 9.9
44 combined t cell and b cell immunodeficiency 9.9
45 acute necrotizing encephalopathy 9.9
46 glutaric acidemia type iii 9.9
47 cerebral atrophy 9.9
48 encephalopathy 9.9
49 xeroderma pigmentosum, complementation group g 9.9 ERCC1 ERCC3 ERCC5 XPA
50 cerebro-oculo-facio-skeletal syndrome 9.8 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6

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 42)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 intellectual disability 32 HP:0001249
3 cataract 32 HP:0000518
4 delayed speech and language development 32 HP:0000750
5 malabsorption 32 HP:0002024
6 microcephaly 32 HP:0000252
7 short stature 32 HP:0004322
8 flexion contracture 32 HP:0001371
9 photophobia 32 HP:0000613
10 hyperkeratosis 32 HP:0000962
11 nail dystrophy 32 HP:0008404
12 retrognathia 32 HP:0000278
13 strabismus 32 HP:0000486
14 abnormality of the thorax 32 HP:0000765
15 dry skin 32 HP:0000958
16 protruding ear 32 occasional (7.5%) HP:0000411
17 intestinal obstruction 32 HP:0005214
18 hypogonadism 32 HP:0000135
19 keratoconjunctivitis sicca 32 occasional (7.5%) HP:0001097
20 microphthalmia 32 occasional (7.5%) HP:0000568
21 small nail 32 HP:0001792
22 abnormality of the face 32 HP:0000271
23 asthma 32 HP:0002099
24 recurrent infections 32 HP:0002719
25 fine hair 32 HP:0002213
26 chronic diarrhea 32 HP:0002028
27 cutaneous photosensitivity 32 HP:0000992
28 microcornea 32 occasional (7.5%) HP:0000482
29 sparse hair 32 HP:0008070
30 erythroderma 32 HP:0001019
31 squamous cell carcinoma 32 HP:0002860
32 igg deficiency 32 HP:0004315
33 trichorrhexis nodosa 32 HP:0009886
34 freckling 32 HP:0001480
35 congenital nonbullous ichthyosiform erythroderma 32 HP:0007479
36 fragile nails 32 HP:0001808
37 small for gestational age 32 HP:0001518
38 telangiectasia 32 HP:0001009
39 brittle hair 32 HP:0002299
40 abnormality of hair texture 32 HP:0010719
41 basal cell carcinoma 32 HP:0002671
42 lack of subcutaneous fatty tissue 32 HP:0007519

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 9.23 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 GTF2H4

MGI Mouse Phenotypes related to Trichothiodystrophy 1, Photosensitive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.7 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 HELLS
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 9.02 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
2 Trichothiodystrophy 29

Anatomical Context for Trichothiodystrophy 1, Photosensitive

MalaCards organs/tissues related to Trichothiodystrophy 1, Photosensitive:

41
Skin, Brain, Testes, Eye, Cortex, T Cells, B Cells

Publications for Trichothiodystrophy 1, Photosensitive

Articles related to Trichothiodystrophy 1, Photosensitive:

(show top 50) (show all 103)
# Title Authors Year
1
Trichothiodystrophy, complementation group A complicated with squamous cell carcinoma. ( 28833524 )
2018
2
Polarized transilluminating dermoscopy: Bedside trichoscopic diagnosis of trichothiodystrophy. ( 28944975 )
2018
3
Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3. ( 29421601 )
2018
4
The First Reported Case of Trichothiodystrophy in Hungary: A Young Male Patient with Mutations in the ERCC2 Gene. ( 29989875 )
2018
5
Trichothiodystrophy without Associated Neuroectodermal Features in Two Siblings. ( 30034195 )
2018
6
Trichothiodystrophy: a case report of childhood glaucoma associated with non-acquired systemic disease. ( 30328942 )
2018
7
Mortality-associated immunological abnormalities in trichothiodystrophy: correlation of reduced levels of immunoglobulin and neutrophils with poor patient survival. ( 30334570 )
2018
8
A case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report. ( 30359777 )
2018
9
Brittle Hair, Photosensitivity, Brain Hypomyelination and Immunodeficiency: Clues to Trichothiodystrophy. ( 27473476 )
2017
10
Trichothiodystrophy causative TFIIE╬▓ mutation affects transcription in highly differentiated tissue. ( 28973399 )
2017
11
Growth and nutrition in children with trichothiodystrophy. ( 24918982 )
2014
12
Trichothiodystrophy group A: a first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene. ( 24986372 )
2014
13
Dynamic partnership between TFIIH, PGC-1╬▒ and SIRT1 is impaired in trichothiodystrophy. ( 25340339 )
2014
14
XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression. ( 23221806 )
2013
15
Trichothiodystrophy in a child with occult learning disorder. ( 23960396 )
2013
16
Trichothiodystrophy: role of a dermato-trchologist. ( 24403778 )
2013
17
Bone fragility and decline in stem cells in prematurely aging DNA repair deficient trichothiodystrophy mice. ( 21814739 )
2012
18
Age-related skeletal dynamics and decrease in bone strength in DNA repair deficient male trichothiodystrophy mice. ( 22506075 )
2012
19
A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship. ( 23039039 )
2012
20
Analysis of osteoarthritis in a mouse model of the progeroid human DNA repair syndrome trichothiodystrophy. ( 20820927 )
2011
21
A Japanese trichothiodystrophy patient with XPD mutations. ( 20944642 )
2011
22
High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies. ( 21800331 )
2011
23
Ocular manifestations of trichothiodystrophy. ( 21959366 )
2011
24
Trichothiodystrophy: from basic mechanisms to clinical implications. ( 19931493 )
2010
25
Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay syndrome. ( 20687499 )
2010
26
Trichothiodystrophy-like hair abnormalities in a child with keratitis ichthyosis deafness syndrome. ( 18789090 )
2008
27
Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations. ( 18603627 )
2008
28
Physicochemical composition of osteoporotic bone in the trichothiodystrophy premature aging mouse determined by confocal Raman microscopy. ( 17301035 )
2007
29
Anesthesia management of a patient with trichothiodystrophy. ( 17767650 )
2007
30
Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH. ( 17952069 )
2007
31
Conformational differences in protein disulfide linkages between normal hair and hair from subjects with trichothiodystrophy: a quantitative analysis by Raman microspectroscopy. ( 16557500 )
2006
32
Structural and molecular hair abnormalities in trichothiodystrophy. ( 16728971 )
2006
33
Splitting hairs--discovery of a new DNA repair and transcription factor for the human disease trichothiodystrophy. ( 15590337 )
2005
34
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. ( 15645389 )
2005
35
Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy. ( 15692466 )
2005
36
Differential repair of the two major UV-induced photolesions in trichothiodystrophy fibroblasts. ( 14871817 )
2004
37
Raman spectroscopy analysis of protein structure of hair in patients with trichothiodystrophy. ( 12653765 )
2003
38
"Curly" wood and tiger tails: an explanation for light and dark banding with polarization in trichothiodystrophy. ( 12975162 )
2003
39
Accelerated bone aging in the trichothiodystrophy mouse model. ( 14630875 )
2003
40
Bilateral cataract and high myopia in a child with trichothiodystrophy: a case report. ( 12455135 )
2001
41
What's new in trichothiodystrophy. ( 11451310 )
2001
42
Trichothiodystrophy with severe cardiac and neurological involvement in two sisters. ( 11795681 )
2001
43
In utero diagnosis of trichothiodystrophy by endoscopically-guided fetal eyebrow biopsy. ( 10781999 )
2000
44
Rough skin, brittle hair, and photosensitivity: a mild phenotypic variant of trichothiodystrophy. ( 10819642 )
2000
45
Cyclobutane pyrimidine dimers are the main mutagenic DNA photoproducts in DNA repair-deficient trichothiodystrophy cells. ( 9426065 )
1998
46
A new variant of trichothiodystrophy with recurrent infections, failure to thrive, and death. ( 9496800 )
1998
47
Trichothiodystrophy without associated neuroectodermal defects. ( 9764166 )
1998
48
The comet assay as a repair test for prenatal diagnosis of Xeroderma pigmentosum and trichothiodystrophy. ( 9008227 )
1997
49
Diagnosis of trichothiodystrophy in 2 siblings. ( 9031799 )
1997
50
The typical 'tiger tail' pattern of the hair shaft in trichothiodystrophy may not be evident at birth. ( 9072956 )
1997

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 26)
# 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 ERCC2 NM_000400.3(ERCC2): c.1887G> C (p.Gln629His) single nucleotide variant Uncertain significance rs200665173 GRCh37 Chromosome 19, 45856019: 45856019
18 ERCC2 NM_000400.3(ERCC2): c.1887G> C (p.Gln629His) single nucleotide variant Uncertain significance rs200665173 GRCh38 Chromosome 19, 45352761: 45352761
19 MPLKIP NM_138701.3(MPLKIP): c.505dupA (p.Thr169Asnfs) duplication Pathogenic rs768342562 GRCh37 Chromosome 7, 40172693: 40172693
20 MPLKIP NM_138701.3(MPLKIP): c.505dupA (p.Thr169Asnfs) duplication Pathogenic rs768342562 GRCh38 Chromosome 7, 40133094: 40133094
21 ERCC2 NM_000400.3(ERCC2): c.1847G> C (p.Arg616Pro) single nucleotide variant Pathogenic/Likely pathogenic rs376556895 GRCh38 Chromosome 19, 45352801: 45352801
22 ERCC2 NM_000400.3(ERCC2): c.1847G> C (p.Arg616Pro) single nucleotide variant Pathogenic/Likely pathogenic rs376556895 GRCh37 Chromosome 19, 45856059: 45856059
23 ERCC2 NM_000400.3(ERCC2): c.594+2_594+5delTGAG deletion Likely pathogenic rs762309206 GRCh37 Chromosome 19, 45868091: 45868094
24 ERCC2 NM_000400.3(ERCC2): c.594+2_594+5delTGAG deletion Likely pathogenic rs762309206 GRCh38 Chromosome 19, 45364833: 45364836
25 ERCC2 NM_000400.3(ERCC2): c.2046+1G> T single nucleotide variant Pathogenic rs774768228 GRCh38 Chromosome 19, 45352505: 45352505
26 ERCC2 NM_000400.3(ERCC2): c.2046+1G> T single nucleotide variant Pathogenic rs774768228 GRCh37 Chromosome 19, 45855763: 45855763

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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.08 ERCC2 ERCC3 GTF2E1 GTF2E2 GTF2H4 GTF2H5
2
Show member pathways
12.91 ASCC2 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
3
Show member pathways
12.82 ERCC2 ERCC3 GTF2E1 GTF2E2 GTF2H4 GTF2H5
4
Show member pathways
12.52 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 XPA
5
Show member pathways
12.49 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 GTF2H4
6
Show member pathways
12.39 GTF2E1 GTF2E2 GTF2H4 GTF2H5
7 12.28 ERCC1 ERCC2 ERCC3 XPA
8 12.2 ERCC2 ERCC3 GTF2E1 HELLS
9 12.03 GTF2E1 GTF2E2 GTF2H4
10 11.88 ERCC2 ERCC3 GTF2H4 GTF2H5 XPA
11
Show member pathways
11.76 ERCC2 ERCC3 ERCC6 GTF2H4 GTF2H5
12 11.5 ERCC2 ERCC3 GTF2H4 GTF2H5 XPA
13
Show member pathways
11.29 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 GTF2H4
14 10.99 GTF2E1 GTF2E2 GTF2H4 GTF2H5
15 10.82 ERCC1 ERCC2 ERCC3 ERCC6 XPA

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 nucleoplasm GO:0005654 9.93 ASCC2 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
2 DNA replication factor A complex GO:0005662 9.48 ERCC5 XPA
3 transcriptional preinitiation complex GO:0097550 9.46 ERCC3 GTF2E1
4 nucleotide-excision repair complex GO:0000109 9.43 ERCC1 ERCC5
5 transcription factor TFIIH holo complex GO:0005675 9.43 ERCC2 ERCC3 GTF2H4
6 nucleotide-excision repair factor 1 complex GO:0000110 9.4 ERCC1 XPA
7 transcription factor TFIIE complex GO:0005673 9.32 GTF2E1 GTF2E2
8 transcription factor TFIIH core complex GO:0000439 9.26 ERCC2 ERCC3 GTF2H4 GTF2H5
9 transcription factor TFIID complex GO:0005669 9.17 ERCC1 ERCC2 ERCC3 GTF2E1 GTF2E2 GTF2H4
10 nucleus GO:0005634 10.18 ASCC2 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6

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 GTF2E1 GTF2E2 GTF2H4 GTF2H5
2 response to oxidative stress GO:0006979 9.96 ERCC1 ERCC2 ERCC3 ERCC6 XPA
3 multicellular organism growth GO:0035264 9.88 ERCC1 ERCC2 ERCC6 XPA
4 transcription elongation from RNA polymerase II promoter GO:0006368 9.88 ERCC2 ERCC3 GTF2H4 GTF2H5
5 response to UV GO:0009411 9.88 ERCC2 ERCC3 ERCC5 ERCC6 XPA
6 nucleotide-excision repair, preincision complex assembly GO:0006294 9.88 ERCC2 ERCC3 ERCC5 GTF2H4 GTF2H5 XPA
7 nucleotide-excision repair GO:0006289 9.87 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H4 GTF2H5
8 7-methylguanosine mRNA capping GO:0006370 9.85 ERCC2 ERCC3 GTF2H4 GTF2H5
9 global genome nucleotide-excision repair GO:0070911 9.85 ERCC1 ERCC2 ERCC3 GTF2H4 GTF2H5 XPA
10 transcription initiation from RNA polymerase I promoter GO:0006361 9.84 ERCC2 ERCC3 GTF2H4 GTF2H5
11 termination of RNA polymerase I transcription GO:0006363 9.83 ERCC2 ERCC3 GTF2H4 GTF2H5
12 UV protection GO:0009650 9.83 ERCC1 ERCC2 ERCC3 ERCC5 XPA
13 DNA duplex unwinding GO:0032508 9.8 ERCC2 ERCC3 ERCC6
14 nucleotide-excision repair, DNA incision GO:0033683 9.8 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H4 GTF2H5
15 embryonic organ development GO:0048568 9.78 ERCC1 ERCC2 ERCC3
16 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.7 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H4 GTF2H5
17 base-excision repair GO:0006284 9.65 ERCC6 XPA
18 response to X-ray GO:0010165 9.65 ERCC1 ERCC6
19 UV-damage excision repair GO:0070914 9.65 ERCC1 XPA
20 regulation of mitotic cell cycle phase transition GO:1901990 9.64 ERCC2 ERCC3
21 phosphorylation of RNA polymerase II C-terminal domain GO:0070816 9.64 ERCC3 GTF2H4
22 hair cell differentiation GO:0035315 9.63 ERCC2 ERCC3
23 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.62 ERCC1 ERCC5
24 regulation of mitotic recombination GO:0000019 9.62 ERCC2 ERCC3
25 transcription elongation from RNA polymerase I promoter GO:0006362 9.61 ERCC6 GTF2H5
26 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.6 ERCC2 ERCC3
27 transcriptional open complex formation at RNA polymerase II promoter GO:0001113 9.59 ERCC3 GTF2E1
28 transcription-coupled nucleotide-excision repair GO:0006283 9.56 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 GTF2H4
29 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.17 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H4 GTF2H5
30 transcription by RNA polymerase II GO:0006366 10.11 ERCC2 ERCC3 ERCC6 GTF2E1 GTF2E2 GTF2H4
31 cellular response to DNA damage stimulus GO:0006974 10.1 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 GTF2H4
32 DNA repair GO:0006281 10.06 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 GTF2H4

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.97 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 HELLS
2 protein C-terminus binding GO:0008022 9.71 ERCC1 ERCC2 ERCC3 ERCC6
3 helicase activity GO:0004386 9.62 ERCC2 ERCC3 ERCC6 HELLS
4 protein N-terminus binding GO:0047485 9.56 ERCC2 ERCC3 ERCC5 ERCC6
5 ATP-dependent DNA helicase activity GO:0004003 9.48 ERCC2 ERCC3
6 TFIIH-class transcription factor complex binding GO:0001097 9.37 GTF2E1 GTF2E2
7 RNA polymerase II CTD heptapeptide repeat kinase activity GO:0008353 9.33 ERCC2 ERCC3 GTF2H4
8 damaged DNA binding GO:0003684 9.26 ERCC1 ERCC2 ERCC3 XPA
9 DNA-dependent ATPase activity GO:0008094 8.92 ERCC2 ERCC3 ERCC6 GTF2H4
10 protein binding GO:0005515 10.28 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 GTF2E1
11 DNA binding GO:0003677 10 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 GTF2E2

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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