TTD3
MCID: TRC100
MIFTS: 17

Trichothiodystrophy 3, Photosensitive (TTD3) malady

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

Aliases & Classifications for Trichothiodystrophy 3, Photosensitive

Aliases & Descriptions for Trichothiodystrophy 3, Photosensitive:

Name: Trichothiodystrophy 3, Photosensitive 54 24 66 29
Trichothiodystrophy, Complementation Group a 66
Ttda 66
Ttd3 66

Characteristics:

HPO:

32
trichothiodystrophy 3, photosensitive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 616395
MedGen 40 CN230763
MeSH 42 D054463

Summaries for Trichothiodystrophy 3, Photosensitive

OMIM : 54 Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that... (616395) more...

MalaCards based summary : Trichothiodystrophy 3, Photosensitive, also known as trichothiodystrophy, complementation group a, is related to trichothiodystrophy 1, photosensitive, and has symptoms including intellectual disability, cataract and short stature. An important gene associated with Trichothiodystrophy 3, Photosensitive is GTF2H5 (General Transcription Factor IIH Subunit 5).

UniProtKB/Swiss-Prot : 66 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 2, Photosensitive family:

Trichothiodystrophy 3, Photosensitive Trichothiodystrophy 1, Photosensitive

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

id Related Disease Score Top Affiliating Genes
1 trichothiodystrophy 1, photosensitive 10.9

Symptoms & Phenotypes for Trichothiodystrophy 3, Photosensitive

Clinical features from OMIM:

616395

Human phenotypes related to Trichothiodystrophy 3, Photosensitive:

32 (show all 10)
id Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 cataract 32 HP:0000518
3 short stature 32 HP:0004322
4 decreased fertility 32 HP:0000144
5 asthma 32 HP:0002099
6 erythroderma 32 HP:0001019
7 congenital nonbullous ichthyosiform erythroderma 32 HP:0007479
8 brittle hair 32 HP:0002299
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:

id Genetic test Affiliating Genes
1 Trichothiodystrophy 3, Photosensitive 29 24 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:

66
id Symbol AA change Variation ID SNP ID
1 GTF2H5 p.Leu21Pro VAR_022647 rs121434365

ClinVar genetic disease variations for Trichothiodystrophy 3, Photosensitive:

6
id 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

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
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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