TTD3
MCID: TRC100
MIFTS: 22

Trichothiodystrophy 3, Photosensitive (TTD3)

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

Aliases & Classifications for Trichothiodystrophy 3, Photosensitive

MalaCards integrated aliases for Trichothiodystrophy 3, Photosensitive:

Name: Trichothiodystrophy 3, Photosensitive 58 76 30 6
Trichothiodystrophy, Complementation Group a 58 76
Ttd3 58 76
Ttda 58 76
Trichothiodystrophy, Complementation Group a; Ttda 58

Characteristics:

HPO:

33
trichothiodystrophy 3, photosensitive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Trichothiodystrophy 3, 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. (616395)

MalaCards based summary : Trichothiodystrophy 3, Photosensitive, also known as trichothiodystrophy, complementation group a, is related to prostate cancer and prostate cancer, hereditary, 8. An important gene associated with Trichothiodystrophy 3, Photosensitive is GTF2H5 (General Transcription Factor IIH Subunit 5). Related phenotypes are intellectual disability and cataract

UniProtKB/Swiss-Prot : 76 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 10.1
2 prostate cancer, hereditary, 8 10.1
3 prostate cancer, hereditary, 6 10.1
4 trichothiodystrophy 1, photosensitive 10.1
5 squamous cell carcinoma 10.1

Graphical network of the top 20 diseases related to Trichothiodystrophy 3, Photosensitive:



Diseases related to Trichothiodystrophy 3, Photosensitive

Symptoms & Phenotypes for Trichothiodystrophy 3, Photosensitive

Human phenotypes related to Trichothiodystrophy 3, Photosensitive:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 cataract 33 HP:0000518
3 short stature 33 HP:0004322
4 decreased fertility 33 HP:0000144
5 asthma 33 HP:0002099
6 erythroderma 33 HP:0001019
7 congenital nonbullous ichthyosiform erythroderma 33 HP:0007479
8 brittle hair 33 HP:0002299
9 joint contracture of the hand 33 HP:0009473
10 tiger tail banding 33 HP:0045055

Clinical features from OMIM:

616395

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 30 GTF2H5

Anatomical Context for Trichothiodystrophy 3, Photosensitive

Publications for Trichothiodystrophy 3, Photosensitive

Articles related to Trichothiodystrophy 3, Photosensitive:

# Title Authors Year
1
Trichothiodystrophy, complementation group A complicated with squamous cell carcinoma. ( 28833524 )
2018

Variations for Trichothiodystrophy 3, Photosensitive

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

76
# 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.36-2A> G single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 158191975: 158191975
2 GTF2H5 NM_207118.2(GTF2H5): c.36-2A> G single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 158613007: 158613007

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 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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