TTD2
MCID: TRC099
MIFTS: 17

Trichothiodystrophy 2, Photosensitive (TTD2)

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

Aliases & Classifications for Trichothiodystrophy 2, Photosensitive

MalaCards integrated aliases for Trichothiodystrophy 2, Photosensitive:

Name: Trichothiodystrophy 2, Photosensitive 58 76 30 6
Ttd2 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
trichothiodystrophy 2, photosensitive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Trichothiodystrophy 2, Photosensitive

OMIM : 58 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)

MalaCards based summary : Trichothiodystrophy 2, Photosensitive, is also known as ttd2. An important gene associated with Trichothiodystrophy 2, Photosensitive is ERCC3 (ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit). Related phenotypes are intellectual disability and coarse hair

UniProtKB/Swiss-Prot : 76 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

Diseases in the Trichothiodystrophy 1, Photosensitive family:

Trichothiodystrophy 2, Photosensitive Trichothiodystrophy 3, Photosensitive

Symptoms & Phenotypes for Trichothiodystrophy 2, Photosensitive

Human phenotypes related to Trichothiodystrophy 2, Photosensitive:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 coarse hair 33 HP:0002208
3 short stature 33 HP:0004322
4 cognitive impairment 33 HP:0100543
5 neoplasm 33 HP:0002664
6 decreased fertility 33 HP:0000144
7 cutaneous photosensitivity 33 HP:0000992
8 congenital nonbullous ichthyosiform erythroderma 33 HP:0007479
9 brittle hair 33 HP:0002299
10 tiger tail banding 33 HP:0045055

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Hair:
coarse hair
tiger-tail pattern seen under polarized light
decrease in cysteine residues

Skin Nails Hair Skin:
congenital ichthyosis
colloidon 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

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 30 ERCC3

Anatomical Context for Trichothiodystrophy 2, Photosensitive

Publications for Trichothiodystrophy 2, Photosensitive

Variations for Trichothiodystrophy 2, Photosensitive

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

76
# Symbol AA change Variation ID SNP ID
1 ERCC3 p.Thr119Pro VAR_008186 rs121913046

ClinVar genetic disease variations for Trichothiodystrophy 2, Photosensitive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC3 NM_000122.1(ERCC3): c.355A> C (p.Thr119Pro) single nucleotide variant Pathogenic rs121913046 GRCh37 Chromosome 2, 128050302: 128050302
2 ERCC3 NM_000122.1(ERCC3): c.355A> C (p.Thr119Pro) single nucleotide variant Pathogenic rs121913046 GRCh38 Chromosome 2, 127292726: 127292726

Expression for Trichothiodystrophy 2, Photosensitive

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

Pathways for Trichothiodystrophy 2, Photosensitive

GO Terms for Trichothiodystrophy 2, Photosensitive

Sources for Trichothiodystrophy 2, Photosensitive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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