MCID: TRC100
MIFTS: 20

Trichothiodystrophy 3, Photosensitive

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

Aliases & Classifications for Trichothiodystrophy 3, Photosensitive

MalaCards integrated aliases for Trichothiodystrophy 3, Photosensitive:

Name: Trichothiodystrophy 3, Photosensitive 57 75 29 6
Trichothiodystrophy, Complementation Group a 57 75
Ttd3 57 75
Ttda 57 75
Trichothiodystrophy, Complementation Group a; Ttda 57

Characteristics:

HPO:

32
trichothiodystrophy 3, photosensitive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Trichothiodystrophy 3, 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. (616395)

MalaCards based summary : Trichothiodystrophy 3, Photosensitive, also known as trichothiodystrophy, complementation group a, is related to prostate cancer and prostatitis. An important gene associated with Trichothiodystrophy 3, Photosensitive is GTF2H5 (General Transcription Factor IIH Subunit 5). Related phenotypes are decreased fertility and cataract

UniProtKB/Swiss-Prot : 75 Trichothiodystrophy 3, 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 3, Photosensitive

Diseases in the Trichothiodystrophy 1, Photosensitive family:

Trichothiodystrophy 2, Photosensitive Trichothiodystrophy 3, Photosensitive

Diseases related to Trichothiodystrophy 3, Photosensitive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 prostate cancer 9.9
2 prostatitis 9.9

Symptoms & Phenotypes for Trichothiodystrophy 3, Photosensitive

Clinical features from OMIM:

616395

Human phenotypes related to Trichothiodystrophy 3, Photosensitive:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 decreased fertility 32 HP:0000144
2 cataract 32 HP:0000518
3 erythroderma 32 HP:0001019
4 intellectual disability 32 HP:0001249
5 asthma 32 HP:0002099
6 brittle hair 32 HP:0002299
7 short stature 32 HP:0004322
8 congenital nonbullous ichthyosiform erythroderma 32 HP:0007479
9 joint contracture of the hand 32 HP:0009473
10 tiger tail banding 32 HP:0045055

Drugs & Therapeutics for Trichothiodystrophy 3, Photosensitive

Search Clinical Trials , NIH Clinical Center for Trichothiodystrophy 3, Photosensitive

Genetic Tests for Trichothiodystrophy 3, Photosensitive

Genetic tests related to Trichothiodystrophy 3, Photosensitive:

# Genetic test Affiliating Genes
1 Trichothiodystrophy 3, Photosensitive 29 GTF2H5

Anatomical Context for Trichothiodystrophy 3, Photosensitive

Publications for Trichothiodystrophy 3, Photosensitive

Variations for Trichothiodystrophy 3, Photosensitive

UniProtKB/Swiss-Prot genetic disease variations for Trichothiodystrophy 3, Photosensitive:

75
# Symbol AA change Variation ID SNP ID
1 GTF2H5 p.Leu21Pro VAR_022647 rs121434365

ClinVar genetic disease variations for Trichothiodystrophy 3, Photosensitive:

6
# 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

Expression for Trichothiodystrophy 3, Photosensitive

Search GEO for disease gene expression data for Trichothiodystrophy 3, Photosensitive.

Pathways for Trichothiodystrophy 3, Photosensitive

GO Terms for Trichothiodystrophy 3, Photosensitive

Sources for Trichothiodystrophy 3, 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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