MFT2
MCID: TRC094
MIFTS: 15

Trichoepithelioma, Multiple Familial, 2 (MFT2)

Categories: Cancer diseases, Genetic diseases, Skin diseases

Aliases & Classifications for Trichoepithelioma, Multiple Familial, 2

MalaCards integrated aliases for Trichoepithelioma, Multiple Familial, 2:

Name: Trichoepithelioma, Multiple Familial, 2 57 13 6 70
Mft2 57

Classifications:



External Ids:

OMIM® 57 612099
MedGen 41 C2677505
UMLS 70 C2677505

Summaries for Trichoepithelioma, Multiple Familial, 2

OMIM® : 57 Multiple familial trichoepithelioma (MFT) is an autosomal dominant disorder of skin appendage tumors characterized by the appearance of trichoepitheliomas. See also MFT1 (601606), which is caused by mutations in the CYLD gene (605018) on chromosome 16q12-q13. (612099) (Updated 20-May-2021)

MalaCards based summary : Trichoepithelioma, Multiple Familial, 2, is also known as mft2. An important gene associated with Trichoepithelioma, Multiple Familial, 2 is MFT2 (Trichoepithelioma, Multiple Familial, 2).

Related Diseases for Trichoepithelioma, Multiple Familial, 2

Diseases in the Trichoepithelioma, Multiple Familial, 1 family:

Trichoepithelioma, Multiple Familial, 2

Symptoms & Phenotypes for Trichoepithelioma, Multiple Familial, 2

Clinical features from OMIM®:

612099 (Updated 20-May-2021)

Drugs & Therapeutics for Trichoepithelioma, Multiple Familial, 2

Search Clinical Trials , NIH Clinical Center for Trichoepithelioma, Multiple Familial, 2

Genetic Tests for Trichoepithelioma, Multiple Familial, 2

Anatomical Context for Trichoepithelioma, Multiple Familial, 2

Publications for Trichoepithelioma, Multiple Familial, 2

Articles related to Trichoepithelioma, Multiple Familial, 2:

# Title Authors PMID Year
1
The gene for multiple familial trichoepithelioma maps to chromosome 9p21. 57
8752837 1996
2
A laboratory simulation of Arabidopsis seed dormancy cycling provides new insight into its regulation by clock genes and the dormancy-related genes DOG1, MFT, CIPK23 and PHYA. 61
28240777 2017
3
Discrimination and divergence among Lactobacillus plantarum-group (LPG) isolates with reference to their probiotic functionalities from vegetable origin. 61
27729171 2016
4
Characterization of two homologous yeast genes that encode mitochondrial iron transporters. 61
9353309 1997

Variations for Trichoepithelioma, Multiple Familial, 2

ClinVar genetic disease variations for Trichoepithelioma, Multiple Familial, 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYLD NM_015247.2(CYLD):c.*2121_*2122del Deletion Uncertain significance 319533 rs74757288 GRCh37: 16:50832526-50832527
GRCh38: 16:50798615-50798616
2 CYLD NM_015247.2(CYLD):c.2465C>T (p.Thr822Ile) SNV Uncertain significance 319509 rs775394735 GRCh37: 16:50827571-50827571
GRCh38: 16:50793660-50793660
3 CYLD NM_015247.2(CYLD):c.*3119del Deletion Uncertain significance 319548 rs149875014 GRCh37: 16:50833531-50833531
GRCh38: 16:50799620-50799620
4 CYLD NM_015247.2(CYLD):c.*1587dup Duplication Uncertain significance 319524 rs886052055 GRCh37: 16:50832002-50832003
GRCh38: 16:50798091-50798092
5 CYLD NM_015247.2(CYLD):c.*2122del Deletion Benign 319532 rs74757288 GRCh37: 16:50832526-50832526
GRCh38: 16:50798615-50798615
6 CYLD NM_015247.2(CYLD):c.*4888_*4889del Deletion Benign 319570 rs143814807 GRCh37: 16:50835307-50835308
GRCh38: 16:50801396-50801397

Expression for Trichoepithelioma, Multiple Familial, 2

Search GEO for disease gene expression data for Trichoepithelioma, Multiple Familial, 2.

Pathways for Trichoepithelioma, Multiple Familial, 2

GO Terms for Trichoepithelioma, Multiple Familial, 2

Sources for Trichoepithelioma, Multiple Familial, 2

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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