MFT1
MCID: MLT049
MIFTS: 27

Multiple Familial Trichoepithelioma 1 (MFT1) malady

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

Summaries for Multiple Familial Trichoepithelioma 1

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 multiple familial trichoepithelioma and multiple familial trichoepithelioma 2, and has symptoms including follicular/erythematous/edematous papules/milium, skin tumors/lumps/epidermal cysts and subcutaneous nodules/lipomas/tumefaction/swelling. 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:46 601606,612099

Aliases & Classifications for Multiple Familial Trichoepithelioma 1

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Sources:
42NIH Rare Diseases, 20GeneTests, 60UMLS, 46OMIM, 48Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases, Genetic diseases
Anatomical: Eye diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
familial multiple trichoepithelioma:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

multiple familial trichoepithelioma 1 42
trichoepithelioma multiple familial 1 42 20
trichoepithelioma, multiple familial, 1 46
familial multiple trichoepitheliomata 60
familial multiple trichoepithelioma 48
mft1 42


External Ids:

MESH via Orphanet35 C536552
ICD10 via Orphanet26 D23.3
SNOMED-CT via Orphanet57 403825008
UMLS via Orphanet61 C1275122

Related Diseases for Multiple Familial Trichoepithelioma 1

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Sources:
17GeneCards, 18GeneDecks
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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
1multiple familial trichoepithelioma10.4
2multiple familial trichoepithelioma 210.2
3brooke-spiegler syndrome10.0
4familial cylindromatosis10.0

Clinical Features for Multiple Familial Trichoepithelioma 1

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

601606,612099

Clinical synopsis from OMIM:

601606

Symptoms:

48
  • follicular/erythematous/edematous papules/milium
  • skin tumors/lumps/epidermal cysts
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • autosomal dominant inheritance
  • telangiectasiae of the skin
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)

Drugs & Therapeutics for Multiple Familial Trichoepithelioma 1

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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Sources:
20GeneTests
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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

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Sources:
32MalaCards
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MalaCards organs/tissues related to Multiple Familial Trichoepithelioma 1:

32
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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Genetic Variations for Multiple Familial Trichoepithelioma 1

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Multiple Familial Trichoepithelioma 1:

62
id Symbol AA change Variation ID SNP ID
1CYLDp.Glu747GlyVAR_045967

Expression for genes affiliated with Multiple Familial Trichoepithelioma 1

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Sources:
1BioGPS, 15Gene 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet