MFT1
MCID: TRC095
MIFTS: 18

Trichoepithelioma, Multiple Familial, 1 (MFT1) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases

Aliases & Classifications for Trichoepithelioma, Multiple Familial, 1

Aliases & Descriptions for Trichoepithelioma, Multiple Familial, 1:

Name: Trichoepithelioma, Multiple Familial, 1 54 13
Multiple Familial Trichoepithelioma 1 50 24 66
Mft1 50 24 66
Hereditary Multiple Benign Cystic Epithelioma 66
Epithelioma Adenoides Cysticum of Brooke 66
Trichoepithelioma Multiple Familial 1 50
Familial Multiple Trichoepitheliomata 69
Brooke-Fordyce Trichoepitheliomas 66
Eac 66

Characteristics:

HPO:

32
trichoepithelioma, multiple familial, 1:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM 54 601606
MedGen 40 C1275122

Summaries for Trichoepithelioma, Multiple Familial, 1

OMIM : 54 Multiple familial trichoepithelioma, also called epithelioma adenoides cysticum (EAC), is an autosomal dominant... (601606) more...

MalaCards based summary : Trichoepithelioma, Multiple Familial, 1, also known as multiple familial trichoepithelioma 1, is related to multiple familial trichoepithelioma and trichoepithelioma, multiple familial, 2, and has symptoms including basal cell carcinoma An important gene associated with Trichoepithelioma, Multiple Familial, 1 is CYLD (CYLD Lysine 63 Deubiquitinase). Affiliated tissues include skin.

UniProtKB/Swiss-Prot : 66 Multiple familial trichoepithelioma 1: Autosomal dominant dermatosis characterized by the presence of many skin tumors predominantly on the face. Since histologic examination shows dermal aggregates of basaloid cells with connection to or differentiation toward hair follicles, this disorder has been thought to represent a benign hamartoma of the pilosebaceous apparatus. Trichoepitheliomas can degenerate into basal cell carcinoma.

Related Diseases for Trichoepithelioma, Multiple Familial, 1

Diseases in the Multiple Familial Trichoepithelioma family:

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

Diseases related to Trichoepithelioma, Multiple Familial, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 multiple familial trichoepithelioma 11.5
2 trichoepithelioma, multiple familial, 2 10.8
3 cylindromatosis, familial 10.8
4 brooke-spiegler syndrome 10.8

Symptoms & Phenotypes for Trichoepithelioma, Multiple Familial, 1

Symptoms by clinical synopsis from OMIM:

601606

Clinical features from OMIM:

601606

Human phenotypes related to Trichoepithelioma, Multiple Familial, 1:

32
id Description HPO Frequency HPO Source Accession
1 basal cell carcinoma 32 HP:0002671

Drugs & Therapeutics for Trichoepithelioma, Multiple Familial, 1

Search Clinical Trials , NIH Clinical Center for Trichoepithelioma, Multiple Familial, 1

Genetic Tests for Trichoepithelioma, Multiple Familial, 1

Genetic tests related to Trichoepithelioma, Multiple Familial, 1:

id Genetic test Affiliating Genes
1 Multiple Familial Trichoepithelioma 1 24 CYLD

Anatomical Context for Trichoepithelioma, Multiple Familial, 1

MalaCards organs/tissues related to Trichoepithelioma, Multiple Familial, 1:

39
Skin

Publications for Trichoepithelioma, Multiple Familial, 1

Variations for Trichoepithelioma, Multiple Familial, 1

UniProtKB/Swiss-Prot genetic disease variations for Trichoepithelioma, Multiple Familial, 1:

66
id Symbol AA change Variation ID SNP ID
1 CYLD p.Glu747Gly VAR_045967 rs121908389

ClinVar genetic disease variations for Trichoepithelioma, Multiple Familial, 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CYLD CYLD, 2-BP DEL, 2241AG deletion Pathogenic
2 CYLD CYLD, IVS12AS, T-G, +2 single nucleotide variant Pathogenic
3 CYLD NM_015247.2(CYLD): c.2240A> G (p.Glu747Gly) single nucleotide variant Pathogenic rs121908389 GRCh37 Chromosome 16, 50825600: 50825600
4 CYLD NM_015247.2(CYLD): c.2806C> T (p.Arg936Ter) single nucleotide variant Pathogenic rs121908390 GRCh37 Chromosome 16, 50830354: 50830354

Expression for Trichoepithelioma, Multiple Familial, 1

Search GEO for disease gene expression data for Trichoepithelioma, Multiple Familial, 1.

Pathways for Trichoepithelioma, Multiple Familial, 1

GO Terms for Trichoepithelioma, Multiple Familial, 1

Sources for Trichoepithelioma, Multiple Familial, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....