MFT1
MCID: MLT049
MIFTS: 25

Multiple Familial Trichoepithelioma 1 (MFT1) malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Cancer diseases categories
Download this MalaCard

Summaries for Multiple Familial Trichoepithelioma 1

About this section
Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
NIH Rare Diseases:43 Multiple familial trichoepithelioma is a rare condition characterized by multiple smooth, round, firm, skin-colored papules that usually occur on the face, but may also occur on the scalp, neck, and trunk. the lesions are derived from immature hair follicles. they may get bigger over time, but they usually do not ulcerate. treatment often involves surgery to remove a single lesion and cryosurgery or laser surgery for multiple ones. it is caused by a mutation in the cyld gene. it is inherited in an autosomal dominant fashion. last updated: 8/30/2009

MalaCards: Multiple Familial Trichoepithelioma 1, also known as trichoepithelioma multiple familial 1, is related to brooke-spiegler syndrome and familial cylindromatosis, and has symptoms including autosomal dominant inheritance, subcutaneous nodules/lipomas/tumefaction/swelling and follicular/erythematous/edematous papules/milium. An important gene associated with Multiple Familial Trichoepithelioma 1 is CYLD (cylindromatosis (turban tumor syndrome)). Affiliated tissues include skin and eye.

Genetics Home Reference:21 Multiple familial trichoepithelioma is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as hair follicles and sweat glands. People with multiple familial trichoepithelioma typically develop large numbers of smooth, round tumors called trichoepitheliomas, which arise from hair follicles. Trichoepitheliomas are generally noncancerous (benign) but occasionally develop into a type of skin cancer called basal cell carcinoma.

Description from OMIM:47 601606,612099

Aliases & Classifications for Multiple Familial Trichoepithelioma 1

About this section
Sources:
43NIH Rare Diseases, 20GeneTests, 62UMLS, 47OMIM, 49Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

49
familial multiple trichoepithelioma:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

multiple familial trichoepithelioma 1 43
trichoepithelioma multiple familial 1 43 20
trichoepithelioma, multiple familial, 1 47
familial multiple trichoepitheliomata 62
familial multiple trichoepithelioma 49
mft1 43


External Ids:

MESH via Orphanet36 C536552
ICD10 via Orphanet26 D23.3
SNOMED-CT via Orphanet59 403825008
UMLS via Orphanet63 C1275122

Related Diseases for Multiple Familial Trichoepithelioma 1

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Multiple Familial Trichoepithelioma 1 family:

Multiple Familial Trichoepithelioma Multiple Familial Trichoepithelioma 2

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

idRelated DiseaseScoreTop Affiliating Genes
1brooke-spiegler syndrome10.1
2familial cylindromatosis10.1

Symptoms for Multiple Familial Trichoepithelioma 1

About this section
Sources:
47OMIM, 49Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

601606

Clinical features from OMIM:

601606,612099

Symptoms:

49
  • autosomal dominant inheritance
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • follicular/erythematous/edematous papules/milium
  • telangiectasiae of the skin
  • skin tumors/lumps/epidermal cysts
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)

Drugs & Therapeutics for Multiple Familial Trichoepithelioma 1

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Multiple Familial Trichoepithelioma 1

Search NIH Clinical Center for Multiple Familial Trichoepithelioma 1

Genetic Tests for Multiple Familial Trichoepithelioma 1

About this section
Sources:
20GeneTests
See all sources

Genetic tests related to Multiple Familial Trichoepithelioma 1:

id Genetic test Affiliating Genes
1 Multiple Familial Trichoepithelioma 120 CYLD

Anatomical Context for Multiple Familial Trichoepithelioma 1

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Multiple Familial Trichoepithelioma 1:

33
Skin, Eye

Animal Models for Multiple Familial Trichoepithelioma 1 or affiliated genes

About this section

Publications for Multiple Familial Trichoepithelioma 1

About this section

Variations for Multiple Familial Trichoepithelioma 1

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

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

64
id Symbol AA change Variation ID SNP ID
1CYLDp.Glu747GlyVAR_045967

Clinvar genetic disease variations for Multiple Familial Trichoepithelioma 1:

1
id Gene Name Type Significance SNP ID Assembly Location
1CYLDCYLD, 2-BP DEL, 2241AGdeletionPathogenic
2CYLDCYLD, IVS12AS, T-G, +2single nucleotide variantPathogenic
3CYLDNM_015247.2(CYLD): c.2240A> G (p.Glu747Gly)single nucleotide variantPathogenicrs121908389GRCh37Chr 16, 50825600: 50825600
4CYLDNM_015247.2(CYLD): c.2806C> T (p.Arg936Ter)single nucleotide variantPathogenicrs121908390GRCh37Chr 16, 50830354: 50830354

Expression for genes affiliated with Multiple Familial Trichoepithelioma 1

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Multiple Familial Trichoepithelioma 1

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

Pathways for genes affiliated with Multiple Familial Trichoepithelioma 1

About this section

Compounds for genes affiliated with Multiple Familial Trichoepithelioma 1

About this section

GO Terms for genes affiliated with Multiple Familial Trichoepithelioma 1

About this section

Products for genes affiliated with Multiple Familial Trichoepithelioma 1

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Multiple Familial Trichoepithelioma 1

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet