MCID: NNP004
MIFTS: 17

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 74
Hair-Brain Syndrome 12
Bids Syndrome 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050528
UMLS 74 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 trichothiodystrophy 5, nonphotosensitive. An important gene associated with Nonphotosensitive Trichothiodystrophy is MPLKIP (M-Phase Specific PLK1 Interacting Protein). Affiliated tissues include brain and skin.

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:

42
Brain, Skin

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

Sources for Nonphotosensitive Trichothiodystrophy

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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