MCID: TRC095
MIFTS: 19

Trichoepithelioma, Multiple Familial, 1 malady

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

Aliases & Classifications for Trichoepithelioma, Multiple Familial, 1

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Aliases & Descriptions for Trichoepithelioma, Multiple Familial, 1:

Name: Trichoepithelioma, Multiple Familial, 1 49 11
Multiple Familial Trichoepithelioma 1 45 22 67
Mft1 45 22 67
Hereditary Multiple Benign Cystic Epithelioma 67
Epithelioma Adenoides Cysticum of Brooke 67
 
Trichoepithelioma Multiple Familial 1 45
Familial Multiple Trichoepitheliomata 65
Brooke-Fordyce Trichoepitheliomas 67
Eac 67

Characteristics:

HPO:

61
trichoepithelioma, multiple familial, 1:
Onset and clinical course: adult onset
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 601606
MedGen34 C1275122
UMLS65 C1275122

Summaries for Trichoepithelioma, Multiple Familial, 1

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OMIM:49 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 and eye.

UniProtKB/Swiss-Prot:67 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 trichoepithelioma12.0
2trichoepithelioma, multiple familial, 210.3
3cylindromatosis, familial10.3
4brooke-spiegler syndrome10.3

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 122 CYLD

Anatomical Context for Trichoepithelioma, Multiple Familial, 1

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

33
Skin, Eye

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:

67
id Symbol AA change Variation ID SNP ID
1CYLDp.Glu747GlyVAR_045967

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

Cosmic variations for Trichoepithelioma, Multiple Familial, 1:

7 (show top 50)    (show all 1205)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1COSM29070PTCH1skin,face,carcinoma,NS3
2COSM29070PTCH1skin,face,carcinoma,NS3
3COSM29070PTCH1skin,face,carcinoma,basal cell carcinoma3
4COSM29068PTCH1skin,NS,carcinoma,basal cell carcinoma3
5COSM29068PTCH1skin,NS,carcinoma,basal cell carcinoma3
6COSM29068PTCH1skin,NS,carcinoma,basal cell carcinoma3
7COSM29070PTCH1skin,NS,carcinoma,basal cell carcinoma3
8COSM29070PTCH1skin,NS,carcinoma,basal cell carcinoma3
9COSM29071PTCH1skin,NS,carcinoma,basal cell carcinoma3
10COSM29147PTCH1skin,face,carcinoma,basal cell carcinoma3
11COSM29071PTCH1skin,NS,carcinoma,basal cell carcinoma3
12COSM29071PTCH1skin,face,carcinoma,NS3
13COSM29071PTCH1skin,face,carcinoma,basal cell carcinoma3
14COSM29071PTCH1skin,face,carcinoma,NS3
15COSM29068PTCH1skin,NS,carcinoma,basal cell carcinoma3
16COSM29068PTCH1skin,NS,carcinoma,basal cell carcinoma3
17COSM29055PTCH1skin,NS,carcinoma,basal cell carcinoma3
18COSM29057PTCH1skin,NS,carcinoma,basal cell carcinoma3
19COSM29055PTCH1skin,NS,carcinoma,basal cell carcinoma3
20COSM29055PTCH1skin,face,carcinoma,NS3
21COSM29055PTCH1skin,face,carcinoma,basal cell carcinoma3
22COSM29055PTCH1skin,face,carcinoma,NS3
23COSM29057PTCH1skin,NS,carcinoma,basal cell carcinoma3
24COSM29061PTCH1skin,face,carcinoma,basal cell carcinoma3
25COSM29062PTCH1skin,NS,carcinoma,basal cell carcinoma3
26COSM29062PTCH1skin,NS,carcinoma,basal cell carcinoma3
27COSM29061PTCH1skin,NS,carcinoma,basal cell carcinoma3
28COSM29061PTCH1skin,NS,carcinoma,basal cell carcinoma3
29COSM29061PTCH1skin,face,carcinoma,NS3
30COSM29061PTCH1skin,face,carcinoma,NS3
31COSM29147PTCH1skin,face,carcinoma,NS3
32COSM29147PTCH1skin,face,carcinoma,NS3
33COSM96959PTCH1skin,NS,carcinoma,basal cell carcinoma3
34COSM96959PTCH1skin,NS,carcinoma,basal cell carcinoma3
35COSM96958PTCH1skin,NS,carcinoma,basal cell carcinoma3
36COSM96958PTCH1skin,NS,carcinoma,basal cell carcinoma3
37COSM96957PTCH1skin,NS,carcinoma,basal cell carcinoma3
38COSM96958PTCH1skin,NS,carcinoma,basal cell carcinoma3
39COSM96959PTCH1skin,NS,carcinoma,basal cell carcinoma3
40COSM96960PTCH1skin,NS,carcinoma,basal cell carcinoma3
41COSM96963PTCH1skin,NS,carcinoma,basal cell carcinoma3
42COSM96964PTCH1skin,NS,carcinoma,basal cell carcinoma3
43COSM96963PTCH1skin,NS,carcinoma,basal cell carcinoma3
44COSM96963PTCH1skin,NS,carcinoma,basal cell carcinoma3
45COSM96960PTCH1skin,NS,carcinoma,basal cell carcinoma3
46COSM96960PTCH1skin,NS,carcinoma,basal cell carcinoma3
47COSM96957PTCH1skin,NS,carcinoma,basal cell carcinoma3
48COSM96957PTCH1skin,NS,carcinoma,basal cell carcinoma3
49COSM29348PTCH1skin,NS,carcinoma,basal cell carcinoma3
50COSM29349PTCH1skin,NS,carcinoma,basal cell carcinoma3

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet