MCID: TRC099
MIFTS: 18

Trichothiodystrophy 2, Photosensitive

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

Aliases & Classifications for Trichothiodystrophy 2, Photosensitive

MalaCards integrated aliases for Trichothiodystrophy 2, Photosensitive:

Name: Trichothiodystrophy 2, Photosensitive 53 71 28
Ttd2 53 71

Characteristics:

OMIM:

53
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 : 53 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, and has symptoms including intellectual disability, coarse hair and short stature. An important gene associated with Trichothiodystrophy 2, Photosensitive is ERCC3 (ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit).

UniProtKB/Swiss-Prot : 71 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

Symptoms via clinical synopsis from OMIM:

53
Growth Height:
short stature (-2.0 sd)

Head And Neck Teeth:
lack of second upper incisor

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

Neurologic Central Nervous System:
normal intelligence

Head And Neck Eyes:
salt-and-pepper fundi

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

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


Clinical features from OMIM:

616390

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

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 28 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:

71
# 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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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