MFT1
MCID: MLT049
MIFTS: 25

Multiple Familial Trichoepithelioma 1 (MFT1) malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Cancer diseases categories
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Summaries for Multiple Familial Trichoepithelioma 1

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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 based summary: Multiple Familial Trichoepithelioma 1, also known as trichoepithelioma multiple familial 1, is related to brooke-spiegler syndrome and familial cylindromatosis, 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.

Descriptions from OMIM:46 601606,612099

Aliases & Classifications for Multiple Familial Trichoepithelioma 1

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Sources:
42NIH Rare Diseases, 20GeneTests, 46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Multiple Familial Trichoepithelioma 1, Aliases & Descriptions:

Name: Multiple Familial Trichoepithelioma 1 42
Trichoepithelioma Multiple Familial 1 42 20
Trichoepithelioma, Multiple Familial, 1 46
 
Familial Multiple Trichoepitheliomata 62
Familial Multiple Trichoepithelioma 48
Mft1 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

MESH via Orphanet35 C536552
ICD10 via Orphanet26 D23.3
UMLS via Orphanet63 C1275122

Related Diseases for Multiple Familial Trichoepithelioma 1

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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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Symptoms by clinical synopsis from OMIM:

601606

Clinical features from OMIM:

601606,612099

Symptoms:

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  • 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)

HPO human phenotypes related to Multiple Familial Trichoepithelioma 1:

(show all 6)
id Description Frequency HPO Source Accession
1 neoplasm of the skin hallmark (90%) HP:0008069
2 teleangiectasia of the skin typical (50%) HP:0100585
3 neoplasm of the skin occasional (7.5%) HP:0008069
4 basal cell carcinoma rare (5%) HP:0002671
5 autosomal dominant inheritance HP:0000006
6 adult onset HP:0003581

Drugs & Therapeutics for Multiple Familial Trichoepithelioma 1

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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

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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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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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Variations for Multiple Familial Trichoepithelioma 1

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

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

Clinvar genetic disease variations for Multiple Familial Trichoepithelioma 1:

6
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet