MCID: NNP004
MIFTS: 20

Nonphotosensitive Trichothiodystrophy

Categories: Genetic diseases, Neuronal diseases, Skin diseases

Aliases & Classifications for Nonphotosensitive Trichothiodystrophy

MalaCards integrated aliases for Nonphotosensitive Trichothiodystrophy:

Name: Nonphotosensitive Trichothiodystrophy 12 15
Amish Brittle Hair Brain Syndrome 12 73
Hair-Brain Syndrome 12
Bids Syndrome 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050528
UMLS 73 C3495483

Summaries for Nonphotosensitive Trichothiodystrophy

MalaCards based summary : Nonphotosensitive Trichothiodystrophy, also known as amish brittle hair brain syndrome, is related to trichothiodystrophy 1, photosensitive and trichothiodystrophy 4, nonphotosensitive. An important gene associated with Nonphotosensitive Trichothiodystrophy is MPLKIP (M-Phase Specific PLK1 Interacting Protein), and among its related pathways/superpathways is RNA Polymerase II Transcription Initiation And Promoter Clearance. Affiliated tissues include brain.

Related Diseases for Nonphotosensitive Trichothiodystrophy

Graphical network of the top 20 diseases related to Nonphotosensitive Trichothiodystrophy:



Diseases related to Nonphotosensitive Trichothiodystrophy

Symptoms & Phenotypes for Nonphotosensitive Trichothiodystrophy

Drugs & Therapeutics for Nonphotosensitive Trichothiodystrophy

Search Clinical Trials , NIH Clinical Center for Nonphotosensitive Trichothiodystrophy

Genetic Tests for Nonphotosensitive Trichothiodystrophy

Anatomical Context for Nonphotosensitive Trichothiodystrophy

MalaCards organs/tissues related to Nonphotosensitive Trichothiodystrophy:

41
Brain

Publications for Nonphotosensitive Trichothiodystrophy

Articles related to Nonphotosensitive Trichothiodystrophy:

# Title Authors Year
1
Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP. ( 26880286 )
2016
2
A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred. ( 26518168 )
2015
3
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. ( 16977596 )
2007
4
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. ( 15645389 )
2005

Variations for Nonphotosensitive Trichothiodystrophy

Expression for Nonphotosensitive Trichothiodystrophy

Search GEO for disease gene expression data for Nonphotosensitive Trichothiodystrophy.

Pathways for Nonphotosensitive Trichothiodystrophy

GO Terms for Nonphotosensitive Trichothiodystrophy

Cellular components related to Nonphotosensitive Trichothiodystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.13 ERCC3 GTF2E2 MPLKIP
2 transcription factor TFIID complex GO:0005669 8.62 ERCC3 GTF2E2

Biological processes related to Nonphotosensitive Trichothiodystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.16 ERCC3 GTF2E2
2 transcription initiation from RNA polymerase II promoter GO:0006367 8.96 ERCC3 GTF2E2
3 transcription elongation from RNA polymerase II promoter GO:0006368 8.62 ERCC3 GTF2E2

Sources for Nonphotosensitive Trichothiodystrophy

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
Content
Loading form....