MCID: NNP004
MIFTS: 20

Nonphotosensitive Trichothiodystrophy

Categories: Genetic diseases, Neuronal diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Nonphotosensitive Trichothiodystrophy

MalaCards integrated aliases for Nonphotosensitive Trichothiodystrophy:

Name: Nonphotosensitive Trichothiodystrophy 12 15
Trichothiodystrophy Nonphotosensitive 6
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 trichothiodystrophy nonphotosensitive, is related to trichothiodystrophy 5, nonphotosensitive and trichothiodystrophy 4, nonphotosensitive. 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:

(show all 12)
# Title Authors PMID Year
1
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. 6 61
16977596 2007
2
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. 61 6
15645389 2005
3
Pollitt syndrome patients carry mutation in TTDN1. 6
25606444 2014
4
Trichothiodystrophy: report of a new case with severe nervous system impairment. 6
1634754 1992
5
Trichothiodystrophy, mental retardation, short stature, ataxia, and gonadal dysfunction in three Moroccan siblings. 6
2333887 1990
6
"Brittle" hair with short stature, intellectual impairment and decreased fertility: an autosomal recessive syndrome in an Amish kindred. 6
4847854 1974
7
Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair. 6
5645693 1968
8
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder. 61
31793730 2020
9
A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom. 61
30598092 2018
10
Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP. 61
26880286 2016
11
A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred. 61
26518168 2015
12
Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay syndrome. 61
20687499 2010

Variations for Nonphotosensitive Trichothiodystrophy

ClinVar genetic disease variations for Nonphotosensitive Trichothiodystrophy:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MPLKIP MPLKIP, EX1-2DEL Deletion Pathogenic 1846
2 MPLKIP NM_138701.4(MPLKIP):c.430A>G (p.Met144Val) SNV Pathogenic 1844 rs137853117 7:40172768-40172768 7:40133169-40133169
3 MPLKIP NM_138701.4(MPLKIP):c.137_138del (p.Gly46fs) Deletion Pathogenic 1845 rs587776531 7:40174029-40174030 7:40134430-40134431
4 MPLKIP NM_138701.4(MPLKIP):c.277del (p.Ser93fs) Deletion Pathogenic 1847 rs587776532 7:40173890-40173890 7:40134291-40134291
5 MPLKIP NM_138701.4(MPLKIP):c.148_152del (p.His50fs) Deletion Pathogenic 1848 rs878854339 7:40174015-40174019 7:40134416-40134420
6 MPLKIP NM_138701.4(MPLKIP):c.339+1G>A SNV Pathogenic 224867 rs869312900 7:40173827-40173827 7:40134228-40134228
7 MPLKIP NM_138701.4(MPLKIP):c.494G>T (p.Ser165Ile) SNV Uncertain significance 548559 rs778910338 7:40172704-40172704 7:40133105-40133105

Expression for Nonphotosensitive Trichothiodystrophy

Search GEO for disease gene expression data for Nonphotosensitive Trichothiodystrophy.

Pathways for Nonphotosensitive Trichothiodystrophy

GO Terms for Nonphotosensitive Trichothiodystrophy

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

# Name GO ID Score Top Affiliating Genes
1 long-term memory GO:0007616 8.62 PTCHD1 NTF4

Sources for Nonphotosensitive Trichothiodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....