MCID: NNP004
MIFTS: 23

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 71
Hair-Brain Syndrome 12
Bids Syndrome 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050528
UMLS 71 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 autosomal recessive disease and trichothiodystrophy 1, photosensitive. An important gene associated with Nonphotosensitive Trichothiodystrophy is MPLKIP (M-Phase Specific PLK1 Interacting Protein), and among its related pathways/superpathways are Nucleotide excision repair and Transcription_P53 signaling pathway. Affiliated tissues include brain and skin.

Related Diseases for Nonphotosensitive Trichothiodystrophy

Diseases in the Nonphotosensitive Trichothiodystrophy family:

Trichothiodystrophy 4, Nonphotosensitive Trichothiodystrophy 5, Nonphotosensitive
Trichothiodystrophy 6, Nonphotosensitive Trichothiodystrophy 7, Nonphotosensitive

Diseases related to Nonphotosensitive Trichothiodystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive disease 29.6 MPLKIP GTF2H5 ERCC3
2 trichothiodystrophy 1, photosensitive 29.3 RNF113A MPLKIP GTF2H5 ERCC3
3 ichthyosis 29.1 RNF113A MPLKIP GTF2H5 ERCC3
4 sabinas brittle hair syndrome 11.8
5 trichothiodystrophy 5, nonphotosensitive 11.7
6 trichothiodystrophy 6, nonphotosensitive 11.7
7 trichothiodystrophy 7, nonphotosensitive 11.5
8 trichothiodystrophy 4, nonphotosensitive 10.5
9 mitral valve insufficiency 10.3
10 pancytopenia 10.3
11 hypogonadism 10.3
12 hypogonadotropism 10.3
13 splenomegaly 10.3
14 premature aging 10.3
15 autosomal recessive congenital ichthyosis 9.8
16 cataract 9.8
17 aminoaciduria 9.8
18 dwarfism 9.8
19 pili torti 9.8
20 xfe progeroid syndrome 9.6 GTF2H5 ERCC3
21 xeroderma pigmentosum group e 9.6 GTF2H5 ERCC3
22 xeroderma pigmentosum, complementation group g 9.5 GTF2H5 ERCC3
23 robinow syndrome, autosomal recessive 1 9.5 RNF113A GTF2H5
24 xeroderma pigmentosum, complementation group d 9.4 GTF2H5 ERCC3
25 xeroderma pigmentosum, complementation group b 9.3 MPLKIP GTF2H5 ERCC3
26 uv-sensitive syndrome 9.2 GTF2H5 ERCC3
27 xeroderma pigmentosum, variant type 9.2 MPLKIP GTF2H5 ERCC3

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, Skin

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 2019
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

Pathways related to Nonphotosensitive Trichothiodystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.02 GTF2H5 ERCC3
2 10.89 GTF2H5 ERCC3
3
Show member pathways
10.67 GTF2H5 ERCC3

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 transcription factor TFIID complex GO:0005669 9.16 GTF2H5 ERCC3
2 transcription factor TFIIH holo complex GO:0005675 8.96 GTF2H5 ERCC3
3 transcription factor TFIIH core complex GO:0000439 8.62 GTF2H5 ERCC3

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.71 RNF113A GTF2H5 ERCC3
2 DNA repair GO:0006281 9.7 RNF113A GTF2H5 ERCC3
3 transcription initiation from RNA polymerase II promoter GO:0006367 9.57 GTF2H5 ERCC3
4 transcription-coupled nucleotide-excision repair GO:0006283 9.56 GTF2H5 ERCC3
5 transcription elongation from RNA polymerase II promoter GO:0006368 9.55 GTF2H5 ERCC3
6 nucleotide-excision repair GO:0006289 9.51 GTF2H5 ERCC3
7 nucleotide-excision repair, DNA incision GO:0033683 9.49 GTF2H5 ERCC3
8 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.48 GTF2H5 ERCC3
9 transcription initiation from RNA polymerase I promoter GO:0006361 9.46 GTF2H5 ERCC3
10 7-methylguanosine mRNA capping GO:0006370 9.43 GTF2H5 ERCC3
11 termination of RNA polymerase I transcription GO:0006363 9.4 GTF2H5 ERCC3
12 transcription elongation from RNA polymerase I promoter GO:0006362 9.37 GTF2H5 ERCC3
13 nucleotide-excision repair, preincision complex assembly GO:0006294 9.32 GTF2H5 ERCC3
14 global genome nucleotide-excision repair GO:0070911 9.26 GTF2H5 ERCC3
15 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.16 GTF2H5 ERCC3
16 nucleotide-excision repair, DNA duplex unwinding GO:0000717 8.96 GTF2H5 ERCC3
17 nucleotide-excision repair, preincision complex stabilization GO:0006293 8.62 GTF2H5 ERCC3

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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