MCID: TRC095
MIFTS: 19

Trichoepithelioma, Multiple Familial, 1 malady

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

Aliases & Classifications for Trichoepithelioma, Multiple Familial, 1

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Aliases & Descriptions for Trichoepithelioma, Multiple Familial, 1:

Name: Trichoepithelioma, Multiple Familial, 1 50 12
Multiple Familial Trichoepithelioma 1 23 68
Mft1 23 68
Hereditary Multiple Benign Cystic Epithelioma 68
 
Epithelioma Adenoides Cysticum of Brooke 68
Familial Multiple Trichoepitheliomata 66
Brooke-Fordyce Trichoepitheliomas 68
Eac 68

Characteristics:

HPO:

62
trichoepithelioma, multiple familial, 1:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset


Classifications:



External Ids:

OMIM50 601606
MedGen35 C1275122

Summaries for Trichoepithelioma, Multiple Familial, 1

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OMIM:50 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:68 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

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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:

idRelated DiseaseScoreTop Affiliating Genes
1multiple familial trichoepithelioma11.6
2trichoepithelioma, multiple familial, 29.9
3cylindromatosis, familial9.9
4brooke-spiegler syndrome9.9

Symptoms for Trichoepithelioma, Multiple Familial, 1

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Symptoms by clinical synopsis from OMIM:

601606

Clinical features from OMIM:

601606

HPO human phenotypes related to Trichoepithelioma, Multiple Familial, 1:

id Description Frequency HPO Source Accession
1 basal cell carcinoma rare (5%) HP:0002671

Drugs & Therapeutics for Trichoepithelioma, Multiple Familial, 1

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Interventional clinical trials:

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

Genetic Tests for Trichoepithelioma, Multiple Familial, 1

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Genetic tests related to Trichoepithelioma, Multiple Familial, 1:

id Genetic test Affiliating Genes
1 Multiple Familial Trichoepithelioma 123 CYLD

Anatomical Context for Trichoepithelioma, Multiple Familial, 1

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

34
Skin

Animal Models for Trichoepithelioma, Multiple Familial, 1 or affiliated genes

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Publications for Trichoepithelioma, Multiple Familial, 1

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Variations for Trichoepithelioma, Multiple Familial, 1

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

68
id Symbol AA change Variation ID SNP ID
1CYLDp.Glu747GlyVAR_045967rs121908389

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

5
id Gene Variation 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 Trichoepithelioma, Multiple Familial, 1

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

Pathways for genes affiliated with Trichoepithelioma, Multiple Familial, 1

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GO Terms for genes affiliated with Trichoepithelioma, Multiple Familial, 1

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Sources for Trichoepithelioma, Multiple Familial, 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet