MFT1
MCID: MLT049
MIFTS: 25

Multiple Familial Trichoepithelioma 1 (MFT1) malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Cancer diseases categories

Summaries for Multiple Familial Trichoepithelioma 1

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Sources:
22Genetics Home Reference, 44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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:22 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:48 601606,612099

Aliases & Classifications for Multiple Familial Trichoepithelioma 1

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Sources:
44NIH Rare Diseases, 21GeneTests, 63UMLS, 48OMIM, 50Orphanet, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
familial multiple trichoepithelioma:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

multiple familial trichoepithelioma 1 44
trichoepithelioma multiple familial 1 44 21
trichoepithelioma, multiple familial, 1 48
familial multiple trichoepitheliomata 63
familial multiple trichoepithelioma 50
mft1 44


External Ids:

MESH via Orphanet37 C536552
ICD10 via Orphanet27 D23.3
SNOMED-CT via Orphanet60 403825008
UMLS via Orphanet64 C1275122

Related Diseases for Multiple Familial Trichoepithelioma 1

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Sources:
18GeneCards, 19GeneDecks
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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

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Sources:
48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

601606

Clinical features from OMIM:

601606,612099

Symptoms:

50
  • 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

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Multiple Familial Trichoepithelioma 1

Drug clinical trials:

Search ClinicalTrials for Multiple Familial Trichoepithelioma 1

Search NIH Clinical Center for Multiple Familial Trichoepithelioma 1

Search CenterWatch for Multiple Familial Trichoepithelioma 1

Genetic Tests for Multiple Familial Trichoepithelioma 1

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21GeneTests
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Genetic tests related to Multiple Familial Trichoepithelioma 1:

id Genetic test Affiliating Genes
1 Multiple Familial Trichoepithelioma 121 CYLD

Anatomical Context for Multiple Familial Trichoepithelioma 1

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34MalaCards
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MalaCards organs/tissues related to Multiple Familial Trichoepithelioma 1:

34
Skin, Eye

Animal Models for Multiple Familial Trichoepithelioma 1 or affiliated genes

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Publications for Multiple Familial Trichoepithelioma 1

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Variations for Multiple Familial Trichoepithelioma 1

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Multiple Familial Trichoepithelioma 1:

65
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

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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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

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Compounds for genes affiliated with Multiple Familial Trichoepithelioma 1

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GO Terms for genes affiliated with Multiple Familial Trichoepithelioma 1

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Products for genes affiliated with Multiple Familial Trichoepithelioma 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Multiple Familial Trichoepithelioma 1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet