MCID: TRC095
MIFTS: 24

Trichoepithelioma, Multiple Familial, 1 malady

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

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


Classifications:



External Ids:

OMIM49 601606
MedGen34 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 mft1, is related to multiple familial trichoepithelioma and adenoiditis, and has symptoms including basal cell carcinoma, autosomal dominant inheritance and adult onset. An important gene associated with Trichoepithelioma, Multiple Familial, 1 is CYLD (Cylindromatosis (Turban Tumor Syndrome)). 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:

(show all 19)
idRelated DiseaseScoreTop Affiliating Genes
1multiple familial trichoepithelioma10.6
2adenoiditis10.6
3spiradenoma10.6
4trichoepithelioma, multiple familial, 210.1
5cylindromatosis, familial10.1
6brooke-spiegler syndrome10.1
7esophageal cancer10.0
8arthritis10.0
9mucoepidermoid carcinoma10.0
10gastrointestinal carcinoma10.0
11adenocarcinoma10.0
12blepharoconjunctivitis10.0
13blood protein disease10.0
14cervical adenocarcinoma10.0
15esophageal disease10.0
16esophagus adenocarcinoma10.0
17gastrointestinal system cancer10.0
18gastrointestinal system disease10.0
19radiation induced cancer10.0

Graphical network of diseases related to Trichoepithelioma, Multiple Familial, 1:



Diseases related to trichoepithelioma, multiple familial, 1

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
2 autosomal dominant inheritance HP:0000006
3 adult onset HP:0003581

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 116)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
110887TP53skin,face,carcinoma,basal cell carcinoma3
210771TP53skin,NS,carcinoma,basal cell carcinoma3
343702TP53skin,NS,carcinoma,basal cell carcinoma3
445015TP53skin,NS,carcinoma,basal cell carcinoma3
543665TP53skin,NS,carcinoma,basal cell carcinoma3
644925TP53skin,NS,carcinoma,basal cell carcinoma3
744167TP53skin,NS,carcinoma,basal cell carcinoma3
844071TP53skin,NS,carcinoma,basal cell carcinoma3
943577TP53skin,NS,carcinoma,basal cell carcinoma3
106549TP53skin,NS,carcinoma,basal cell carcinoma3
1110726TP53skin,face,carcinoma,basal cell carcinoma3
1211084TP53skin,face,carcinoma,basal cell carcinoma3
1343585TP53skin,face,carcinoma,basal cell carcinoma3
1444227TP53skin,face,carcinoma,basal cell carcinoma3
1544552TP53skin,face,carcinoma,basal cell carcinoma3
1644310TP53skin,NS,carcinoma,basal cell carcinoma3
1743842TP53skin,NS,carcinoma,basal cell carcinoma3
1844096TP53skin,NS,carcinoma,basal cell carcinoma3
1944074TP53skin,NS,carcinoma,basal cell carcinoma3
2043616TP53skin,NS,carcinoma,basal cell carcinoma3
2145020TP53skin,face,carcinoma,basal cell carcinoma3
2245019TP53skin,face,carcinoma,basal cell carcinoma3
2343608TP53skin,NS,carcinoma,basal cell carcinoma3
2444606TP53skin,NS,carcinoma,basal cell carcinoma3
2543635TP53skin,NS,carcinoma,basal cell carcinoma3
2643592TP53skin,NS,carcinoma,basal cell carcinoma3
2745740TP53skin,NS,carcinoma,basal cell carcinoma3
2810660TP53skin,NS,carcinoma,basal cell carcinoma3
2944909TP53skin,face,carcinoma,basal cell carcinoma3
3010648TP53skin,NS,carcinoma,basal cell carcinoma3
3110992TP53skin,face,carcinoma,basal cell carcinoma3
3243742TP53skin,face,carcinoma,basal cell carcinoma3
3310728TP53skin,face,carcinoma,basal cell carcinoma3
3445017TP53skin,face,carcinoma,basal cell carcinoma3
3544226TP53skin,NS,carcinoma,basal cell carcinoma3
3610768TP53skin,face,carcinoma,basal cell carcinoma3
3743920TP53skin,face,carcinoma,basal cell carcinoma3
3845776TP53skin,face,carcinoma,basal cell carcinoma3
3943581TP53skin,NS,carcinoma,basal cell carcinoma3
4045423TP53skin,NS,carcinoma,basal cell carcinoma3
4144068TP53skin,face,carcinoma,basal cell carcinoma3
4245420TP53skin,NS,carcinoma,basal cell carcinoma3
4310656TP53skin,NS,carcinoma,basal cell carcinoma3
4410659TP53skin,NS,carcinoma,basal cell carcinoma3
4543582TP53skin,NS,carcinoma,basal cell carcinoma3
4643584TP53skin,NS,carcinoma,basal cell carcinoma3
4745739TP53skin,NS,carcinoma,basal cell carcinoma3
4844603TP53skin,NS,carcinoma,basal cell carcinoma3
496932TP53skin,NS,carcinoma,basal cell carcinoma3
5010662TP53skin,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