MCID: TRC094
MIFTS: 17

Trichoepithelioma, Multiple Familial, 2

Categories: Rare diseases, Genetic diseases, Eye 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 73
Trichoepithelioma Multiple Familial 2 53 6
Mft2 57 53
Multiple Familial Trichoepithelioma 2 53

Classifications:



External Ids:

OMIM 57 612099
MedGen 42 C2677505
UMLS 73 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)

MalaCards based summary : Trichoepithelioma, Multiple Familial, 2, also known as trichoepithelioma multiple familial 2, is related to multiple familial trichoepithelioma and cylindromatosis, familial. An important gene associated with Trichoepithelioma, Multiple Familial, 2 is MFT2 (Trichoepithelioma, Multiple Familial, 2). Affiliated tissues include skin.

Related Diseases for Trichoepithelioma, Multiple Familial, 2

Diseases in the Multiple Familial Trichoepithelioma family:

Trichoepithelioma, Multiple Familial, 1 Trichoepithelioma, Multiple Familial, 2

Diseases related to Trichoepithelioma, Multiple Familial, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 multiple familial trichoepithelioma 30.4 CYLD MFT2
2 cylindromatosis, familial 8.1 CYLD LOC102724907 LOC105371251 MIR3181

Symptoms & Phenotypes for Trichoepithelioma, Multiple Familial, 2

Clinical features from OMIM:

612099

Drugs & Therapeutics for Trichoepithelioma, Multiple Familial, 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Community Volunteers Promoting Physical Activity Among Cancer Survivors Unknown status NCT00948701 Not Applicable

Search NIH Clinical Center for Trichoepithelioma, Multiple Familial, 2

Genetic Tests for Trichoepithelioma, Multiple Familial, 2

Anatomical Context for Trichoepithelioma, Multiple Familial, 2

MalaCards organs/tissues related to Trichoepithelioma, Multiple Familial, 2:

41
Skin

Publications for Trichoepithelioma, Multiple Familial, 2

Variations for Trichoepithelioma, Multiple Familial, 2

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

6
(show top 50) (show all 162)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYLD NM_015247.2(CYLD): c.-161A> G single nucleotide variant Uncertain significance rs886052051 GRCh37 Chromosome 16, 50778740: 50778740
2 CYLD NM_015247.2(CYLD): c.-161A> G single nucleotide variant Uncertain significance rs886052051 GRCh38 Chromosome 16, 50744829: 50744829
3 CYLD NM_015247.2(CYLD): c.-23A> C single nucleotide variant Uncertain significance rs771486432 GRCh37 Chromosome 16, 50783587: 50783587
4 CYLD NM_015247.2(CYLD): c.-23A> C single nucleotide variant Uncertain significance rs771486432 GRCh38 Chromosome 16, 50749676: 50749676
5 CYLD NM_015247.2(CYLD): c.1172T> C (p.Ile391Thr) single nucleotide variant Likely benign rs138976689 GRCh38 Chromosome 16, 50779698: 50779698
6 CYLD NM_015247.2(CYLD): c.1172T> C (p.Ile391Thr) single nucleotide variant Likely benign rs138976689 GRCh37 Chromosome 16, 50813609: 50813609
7 CYLD NM_015247.2(CYLD): c.1473C> T (p.Ile491=) single nucleotide variant Likely benign rs75757530 GRCh38 Chromosome 16, 50779999: 50779999
8 CYLD NM_015247.2(CYLD): c.1473C> T (p.Ile491=) single nucleotide variant Likely benign rs75757530 GRCh37 Chromosome 16, 50813910: 50813910
9 CYLD NM_015247.2(CYLD): c.1503C> T (p.Leu501=) single nucleotide variant Uncertain significance rs752471076 GRCh38 Chromosome 16, 50780029: 50780029
10 CYLD NM_015247.2(CYLD): c.1503C> T (p.Leu501=) single nucleotide variant Uncertain significance rs752471076 GRCh37 Chromosome 16, 50813940: 50813940
11 CYLD NM_015247.2(CYLD): c.*837A> G single nucleotide variant Benign rs3743781 GRCh38 Chromosome 16, 50797345: 50797345
12 CYLD NM_015247.2(CYLD): c.*837A> G single nucleotide variant Benign rs3743781 GRCh37 Chromosome 16, 50831256: 50831256
13 CYLD NM_015247.2(CYLD): c.*1102G> A single nucleotide variant Likely benign rs141088048 GRCh38 Chromosome 16, 50797610: 50797610
14 CYLD NM_015247.2(CYLD): c.*1102G> A single nucleotide variant Likely benign rs141088048 GRCh37 Chromosome 16, 50831521: 50831521
15 CYLD NM_015247.2(CYLD): c.*1245T> C single nucleotide variant Likely benign rs192470603 GRCh38 Chromosome 16, 50797753: 50797753
16 CYLD NM_015247.2(CYLD): c.*1245T> C single nucleotide variant Likely benign rs192470603 GRCh37 Chromosome 16, 50831664: 50831664
17 CYLD NM_015247.2(CYLD): c.*1308A> G single nucleotide variant Uncertain significance rs886052054 GRCh38 Chromosome 16, 50797816: 50797816
18 CYLD NM_015247.2(CYLD): c.*1308A> G single nucleotide variant Uncertain significance rs886052054 GRCh37 Chromosome 16, 50831727: 50831727
19 CYLD NM_015247.2(CYLD): c.*1575G> A single nucleotide variant Likely benign rs184344245 GRCh38 Chromosome 16, 50798083: 50798083
20 CYLD NM_015247.2(CYLD): c.*1575G> A single nucleotide variant Likely benign rs184344245 GRCh37 Chromosome 16, 50831994: 50831994
21 CYLD NM_015247.2(CYLD): c.*1667G> T single nucleotide variant Uncertain significance rs750022206 GRCh37 Chromosome 16, 50832086: 50832086
22 CYLD NM_015247.2(CYLD): c.*1667G> T single nucleotide variant Uncertain significance rs750022206 GRCh38 Chromosome 16, 50798175: 50798175
23 CYLD NM_015247.2(CYLD): c.*1746C> T single nucleotide variant Uncertain significance rs886052057 GRCh37 Chromosome 16, 50832165: 50832165
24 CYLD NM_015247.2(CYLD): c.*1746C> T single nucleotide variant Uncertain significance rs886052057 GRCh38 Chromosome 16, 50798254: 50798254
25 CYLD NM_015247.2(CYLD): c.*1810A> T single nucleotide variant Uncertain significance rs886052058 GRCh37 Chromosome 16, 50832229: 50832229
26 CYLD NM_015247.2(CYLD): c.*1810A> T single nucleotide variant Uncertain significance rs886052058 GRCh38 Chromosome 16, 50798318: 50798318
27 CYLD NM_015247.2(CYLD): c.*2556A> G single nucleotide variant Uncertain significance rs747682326 GRCh37 Chromosome 16, 50832975: 50832975
28 CYLD NM_015247.2(CYLD): c.*2556A> G single nucleotide variant Uncertain significance rs747682326 GRCh38 Chromosome 16, 50799064: 50799064
29 CYLD NM_015247.2(CYLD): c.*2975C> T single nucleotide variant Uncertain significance rs886052062 GRCh38 Chromosome 16, 50799483: 50799483
30 CYLD NM_015247.2(CYLD): c.*2975C> T single nucleotide variant Uncertain significance rs886052062 GRCh37 Chromosome 16, 50833394: 50833394
31 CYLD NM_015247.2(CYLD): c.*3305A> G single nucleotide variant Uncertain significance rs886052065 GRCh38 Chromosome 16, 50799813: 50799813
32 CYLD NM_015247.2(CYLD): c.*3305A> G single nucleotide variant Uncertain significance rs886052065 GRCh37 Chromosome 16, 50833724: 50833724
33 CYLD NM_015247.2(CYLD): c.*3469T> C single nucleotide variant Likely benign rs111951225 GRCh38 Chromosome 16, 50799977: 50799977
34 CYLD NM_015247.2(CYLD): c.*3469T> C single nucleotide variant Likely benign rs111951225 GRCh37 Chromosome 16, 50833888: 50833888
35 CYLD NM_015247.2(CYLD): c.*3731C> T single nucleotide variant Likely benign rs551109634 GRCh38 Chromosome 16, 50800239: 50800239
36 CYLD NM_015247.2(CYLD): c.*3731C> T single nucleotide variant Likely benign rs551109634 GRCh37 Chromosome 16, 50834150: 50834150
37 CYLD NM_015247.2(CYLD): c.*3739C> G single nucleotide variant Likely benign rs16948836 GRCh38 Chromosome 16, 50800247: 50800247
38 CYLD NM_015247.2(CYLD): c.*3739C> G single nucleotide variant Likely benign rs16948836 GRCh37 Chromosome 16, 50834158: 50834158
39 CYLD NM_015247.2(CYLD): c.*4494G> A single nucleotide variant Uncertain significance rs546313281 GRCh38 Chromosome 16, 50801002: 50801002
40 CYLD NM_015247.2(CYLD): c.*4494G> A single nucleotide variant Uncertain significance rs546313281 GRCh37 Chromosome 16, 50834913: 50834913
41 CYLD NM_015247.2(CYLD): c.*4567C> T single nucleotide variant Likely benign rs113748745 GRCh38 Chromosome 16, 50801075: 50801075
42 CYLD NM_015247.2(CYLD): c.*4567C> T single nucleotide variant Likely benign rs113748745 GRCh37 Chromosome 16, 50834986: 50834986
43 CYLD NM_015247.2(CYLD): c.*4702C> T single nucleotide variant Uncertain significance rs886052070 GRCh38 Chromosome 16, 50801210: 50801210
44 CYLD NM_015247.2(CYLD): c.*4702C> T single nucleotide variant Uncertain significance rs886052070 GRCh37 Chromosome 16, 50835121: 50835121
45 CYLD NM_015247.2(CYLD): c.*4841G> A single nucleotide variant Uncertain significance rs886052071 GRCh38 Chromosome 16, 50801349: 50801349
46 CYLD NM_015247.2(CYLD): c.*4841G> A single nucleotide variant Uncertain significance rs886052071 GRCh37 Chromosome 16, 50835260: 50835260
47 CYLD NM_015247.2(CYLD): c.*5384A> G single nucleotide variant Uncertain significance rs886052072 GRCh37 Chromosome 16, 50835803: 50835803
48 CYLD NM_015247.2(CYLD): c.*5384A> G single nucleotide variant Uncertain significance rs886052072 GRCh38 Chromosome 16, 50801892: 50801892
49 CYLD NM_015247.2(CYLD): c.-366G> C single nucleotide variant Uncertain significance rs886052050 GRCh37 Chromosome 16, 50776010: 50776010
50 CYLD NM_015247.2(CYLD): c.-366G> C single nucleotide variant Uncertain significance rs886052050 GRCh38 Chromosome 16, 50742099: 50742099

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

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