TTD2
MCID: TRC099
MIFTS: 32

Trichothiodystrophy 2, Photosensitive (TTD2)

Categories: Genetic diseases, Neuronal diseases, Reproductive diseases

Aliases & Classifications for Trichothiodystrophy 2, Photosensitive

MalaCards integrated aliases for Trichothiodystrophy 2, Photosensitive:

Name: Trichothiodystrophy 2, Photosensitive 57 72 29 6
Ttd2 57 12 72
Photosensitive Trichothiodystrophy 2 12 15

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on a report of 2 sibs in one consanguineous family (last curated january 2017)


HPO:

31
trichothiodystrophy 2, photosensitive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Trichothiodystrophy 2, Photosensitive

OMIM® : 57 Trichothiodystrophy 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. Patients with TTD have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). For a discussion of genetic heterogeneity of TTD, see 601675. (616390) (Updated 05-Apr-2021)

MalaCards based summary : Trichothiodystrophy 2, Photosensitive, also known as ttd2, is related to xfe progeroid syndrome and trichothiodystrophy 4, nonphotosensitive. An important gene associated with Trichothiodystrophy 2, Photosensitive is ERCC3 (ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit), and among its related pathways/superpathways are Nucleotide excision repair and RNA Polymerase I Promoter Escape. Related phenotypes are intellectual disability and coarse hair

Disease Ontology : 12 A photosensitive trichothiodystrophy that has material basis in homozygous or compound heterozygous mutation in ERCC3 on chromosome 2q14.3.

UniProtKB/Swiss-Prot : 72 Trichothiodystrophy 2, 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.

Related Diseases for Trichothiodystrophy 2, Photosensitive

Graphical network of the top 20 diseases related to Trichothiodystrophy 2, Photosensitive:



Diseases related to Trichothiodystrophy 2, Photosensitive

Symptoms & Phenotypes for Trichothiodystrophy 2, Photosensitive

Human phenotypes related to Trichothiodystrophy 2, Photosensitive:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 coarse hair 31 HP:0002208
3 short stature 31 HP:0004322
4 cognitive impairment 31 HP:0100543
5 neoplasm 31 HP:0002664
6 decreased fertility 31 HP:0000144
7 cutaneous photosensitivity 31 HP:0000992
8 congenital nonbullous ichthyosiform erythroderma 31 HP:0007479
9 brittle hair 31 HP:0002299
10 tiger tail banding 31 HP:0045055

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Hair:
coarse hair
tiger-tail pattern seen under polarized light
decrease in cysteine residues

Skin Nails Hair Skin:
congenital ichthyosis
collodion baby (improvement in weeks)
ichthyosis, mild (trunk, scalp, palms, and soles)
photosensitivity, mild

Head And Neck Eyes:
salt-and-pepper fundi

Skin Nails Hair Skin Electron Microscopy:
increase in lamellar bodies in the stratum granulosum

Neurologic Central Nervous System:
normal intelligence

Growth Height:
short stature (-2.0 sd)

Head And Neck Teeth:
lack of second upper incisor

Clinical features from OMIM®:

616390 (Updated 05-Apr-2021)

Drugs & Therapeutics for Trichothiodystrophy 2, Photosensitive

Search Clinical Trials , NIH Clinical Center for Trichothiodystrophy 2, Photosensitive

Genetic Tests for Trichothiodystrophy 2, Photosensitive

Genetic tests related to Trichothiodystrophy 2, Photosensitive:

# Genetic test Affiliating Genes
1 Trichothiodystrophy 2, Photosensitive 29 ERCC3

Anatomical Context for Trichothiodystrophy 2, Photosensitive

Publications for Trichothiodystrophy 2, Photosensitive

Articles related to Trichothiodystrophy 2, Photosensitive:

# Title Authors PMID Year
1
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. 57 6
9012405 1997
2
Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations. 57
18603627 2008
3
Ultrasonic fetal transverse trunk diameter in normal northern Thai women. 61
8228703 1993

Variations for Trichothiodystrophy 2, Photosensitive

ClinVar genetic disease variations for Trichothiodystrophy 2, Photosensitive:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ERCC3 NM_000122.1(ERCC3):c.355A>C (p.Thr119Pro) SNV Pathogenic 16584 rs121913046 GRCh37: 2:128050302-128050302
GRCh38: 2:127292726-127292726
2 ERCC3 NM_000122.1(ERCC3):c.1421dup (p.Asp474fs) Duplication Pathogenic 134130 rs587778281 GRCh37: 2:128038128-128038129
GRCh38: 2:127280552-127280553
3 ERCC3 NM_000122.2(ERCC3):c.1762dup (p.Glu588fs) Duplication Pathogenic 870690 GRCh37: 2:128030505-128030506
GRCh38: 2:127272929-127272930
4 ERCC3 NM_000122.1(ERCC3):c.325C>T (p.Arg109Ter) SNV Pathogenic 265515 rs34295337 GRCh37: 2:128050332-128050332
GRCh38: 2:127292756-127292756
5 ERCC3 NM_000122.1(ERCC3):c.847C>T (p.Arg283Cys) SNV Uncertain significance 134128 rs145201970 GRCh37: 2:128046416-128046416
GRCh38: 2:127288840-127288840
6 ERCC3 NM_000122.1(ERCC3):c.359C>T (p.Ala120Val) SNV Uncertain significance 331092 rs370115857 GRCh37: 2:128050298-128050298
GRCh38: 2:127292722-127292722
7 ERCC3 NM_000122.2(ERCC3):c.417C>T (p.Tyr139=) SNV Uncertain significance 721411 rs529637184 GRCh37: 2:128050240-128050240
GRCh38: 2:127292664-127292664
8 ERCC3 NM_000122.1(ERCC3):c.847C>T (p.Arg283Cys) SNV Uncertain significance 134128 rs145201970 GRCh37: 2:128046416-128046416
GRCh38: 2:127288840-127288840

UniProtKB/Swiss-Prot genetic disease variations for Trichothiodystrophy 2, Photosensitive:

72
# Symbol AA change Variation ID SNP ID
1 ERCC3 p.Thr119Pro VAR_008186 rs121913046

Expression for Trichothiodystrophy 2, Photosensitive

Search GEO for disease gene expression data for Trichothiodystrophy 2, Photosensitive.

Pathways for Trichothiodystrophy 2, Photosensitive

Pathways related to Trichothiodystrophy 2, Photosensitive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.02 GTF2H5 ERCC3
2
Show member pathways
10.67 GTF2H5 ERCC3

GO Terms for Trichothiodystrophy 2, Photosensitive

Cellular components related to Trichothiodystrophy 2, Photosensitive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor TFIID complex GO:0005669 9.16 GTF2H5 ERCC3
2 transcription factor TFIIH holo complex GO:0005675 8.96 GTF2H5 ERCC3
3 transcription factor TFIIH core complex GO:0000439 8.62 GTF2H5 ERCC3

Biological processes related to Trichothiodystrophy 2, Photosensitive according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 transcription elongation from RNA polymerase II promoter GO:0006368 9.54 GTF2H5 ERCC3
2 transcription-coupled nucleotide-excision repair GO:0006283 9.52 GTF2H5 ERCC3
3 nucleotide-excision repair GO:0006289 9.51 GTF2H5 ERCC3
4 nucleotide-excision repair, DNA incision GO:0033683 9.49 GTF2H5 ERCC3
5 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.48 GTF2H5 ERCC3
6 transcription initiation from RNA polymerase I promoter GO:0006361 9.46 GTF2H5 ERCC3
7 7-methylguanosine mRNA capping GO:0006370 9.43 GTF2H5 ERCC3
8 termination of RNA polymerase I transcription GO:0006363 9.4 GTF2H5 ERCC3
9 transcription elongation from RNA polymerase I promoter GO:0006362 9.37 GTF2H5 ERCC3
10 nucleotide-excision repair, preincision complex assembly GO:0006294 9.32 GTF2H5 ERCC3
11 global genome nucleotide-excision repair GO:0070911 9.26 GTF2H5 ERCC3
12 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.16 GTF2H5 ERCC3
13 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 8.96 GTF2H5 ERCC3
14 nucleotide-excision repair, preincision complex stabilization GO:0006293 8.62 GTF2H5 ERCC3

Sources for Trichothiodystrophy 2, 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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