MCID: TRC099
MIFTS: 18

Trichothiodystrophy 2, Photosensitive

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

Aliases & Classifications for Trichothiodystrophy 2, Photosensitive

MalaCards integrated aliases for Trichothiodystrophy 2, Photosensitive:

Name: Trichothiodystrophy 2, Photosensitive 54 71 29
Ttd2 71

Characteristics:

OMIM:

54
Miscellaneous:
based on a report of 2 sibs in one consanguineous family (last curated january 2017)

Inheritance:
autosomal recessive


HPO:

32
trichothiodystrophy 2, photosensitive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Trichothiodystrophy 2, Photosensitive

OMIM : 54
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 short stature, cognitive impairment and brittle hair. 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

Symptoms & Phenotypes for Trichothiodystrophy 2, Photosensitive

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
normal intelligence

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

Head And Neck- Teeth:
lack of second upper incisor

Growth- Height:
short stature (-2.0 sd)

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

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

Head And Neck- Eyes:
salt-and-pepper fundi


Clinical features from OMIM:

616390

Human phenotypes related to Trichothiodystrophy 2, Photosensitive:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 cognitive impairment 32 HP:0100543
3 brittle hair 32 HP:0002299
4 intellectual disability 32 HP:0001249
5 decreased fertility 32 HP:0000144
6 cutaneous photosensitivity 32 HP:0000992
7 neoplasm 32 HP:0002664
8 congenital nonbullous ichthyosiform erythroderma 32 HP:0007479
9 tiger tail banding 32 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:

id Genetic test Affiliating Genes
1 Trichothiodystrophy 2, Photosensitive 29

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

ClinVar genetic disease variations for Trichothiodystrophy 2, Photosensitive:

6
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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