MCID: NNP004
MIFTS: 15

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 72
Hair-Brain Syndrome 12
Bids Syndrome 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050528
UMLS 72 C3495483

Summaries for Nonphotosensitive Trichothiodystrophy

Disease Ontology : 12 An autosomal recessive disease that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has material basis in mutations in the TTDN1 gene.

MalaCards based summary : Nonphotosensitive Trichothiodystrophy, also known as amish brittle hair brain syndrome, is related to trichothiodystrophy 1, photosensitive and sabinas brittle hair syndrome. 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:

41
Brain

Publications for Nonphotosensitive Trichothiodystrophy

Articles related to Nonphotosensitive Trichothiodystrophy:

# Title Authors PMID Year
1
Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP. 38
26880286 2016
2
A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred. 38
26518168 2015
3
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. 38
16977596 2007
4
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. 38
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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