MCID: NNP004
MIFTS: 13

Nonphotosensitive Trichothiodystrophy

Categories: Genetic diseases, Neuronal diseases, Skin diseases

Aliases & Classifications for Nonphotosensitive Trichothiodystrophy

MalaCards integrated aliases for Nonphotosensitive Trichothiodystrophy:

Name: Nonphotosensitive Trichothiodystrophy 12
Amish Brittle Hair Brain Syndrome 71

Classifications:



External Ids:

Disease Ontology 12 DOID:0111867
UMLS 71 C3495483

Summaries for Nonphotosensitive Trichothiodystrophy

Disease Ontology : 12 A trichothiodystrophy characterized by absence of extreme sensitivity to UV radiation.

MalaCards based summary : Nonphotosensitive Trichothiodystrophy, also known as amish brittle hair brain syndrome, is related to trichothiodystrophy and ichthyosis. An important gene associated with Nonphotosensitive Trichothiodystrophy is MPLKIP (M-Phase Specific PLK1 Interacting Protein). 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:

40
Brain

Publications for Nonphotosensitive Trichothiodystrophy

Articles related to Nonphotosensitive Trichothiodystrophy:

# Title Authors PMID Year
1
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder. 61
31793730 2020
2
Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP. 61
26880286 2016
3
A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred. 61
26518168 2015
4
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. 61
16977596 2007
5
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. 61
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

Sources for Nonphotosensitive Trichothiodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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