MCID: TRC095
MIFTS: 18

Trichoepithelioma, Multiple Familial, 1 malady

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

Aliases & Classifications for Trichoepithelioma, Multiple Familial, 1

About this section

Aliases & Descriptions for Trichoepithelioma, Multiple Familial, 1:

Name: Trichoepithelioma, Multiple Familial, 1 52 12
Multiple Familial Trichoepithelioma 1 48 24 70
Mft1 48 24 70
Hereditary Multiple Benign Cystic Epithelioma 70
Epithelioma Adenoides Cysticum of Brooke 70
 
Familial Multiple Trichoepitheliomata 68
Trichoepithelioma Multiple Familial 1 48
Brooke-Fordyce Trichoepitheliomas 70
Eac 70

Characteristics:

HPO:

64
trichoepithelioma, multiple familial, 1:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset

Classifications:



External Ids:

OMIM52 601606
MedGen37 C1275122

Summaries for Trichoepithelioma, Multiple Familial, 1

About this section
OMIM:52 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:70 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

About this section

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 trichoepithelioma11.5
2trichoepithelioma, multiple familial, 210.8
3cylindromatosis, familial10.8
4brooke-spiegler syndrome10.8

Symptoms & Phenotypes for Trichoepithelioma, Multiple Familial, 1

About this section

Symptoms by clinical synopsis from OMIM:

601606

Clinical features from OMIM:

601606

Human phenotypes related to Trichoepithelioma, Multiple Familial, 1:

 64
id Description HPO Frequency HPO Source Accession
1 basal cell carcinoma64 rare (5%) HP:0002671

Drugs & Therapeutics for Trichoepithelioma, Multiple Familial, 1

About this section

Interventional clinical trials:

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

Genetic Tests for Trichoepithelioma, Multiple Familial, 1

About this section

Genetic tests related to Trichoepithelioma, Multiple Familial, 1:

id Genetic test Affiliating Genes
1 Multiple Familial Trichoepithelioma 124 CYLD

Anatomical Context for Trichoepithelioma, Multiple Familial, 1

About this section

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

36
Skin

Publications for Trichoepithelioma, Multiple Familial, 1

About this section

Variations for Trichoepithelioma, Multiple Familial, 1

About this section

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

70
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, 2241AGdeletionPathogenicChr na, -1: -1
2CYLDCYLD, IVS12AS, T-G, +2SNVPathogenicChr na, -1: -1
3CYLDNM_015247.2(CYLD): c.2240A> G (p.Glu747Gly)SNVPathogenicrs121908389GRCh37Chr 16, 50825600: 50825600
4CYLDNM_015247.2(CYLD): c.2806C> T (p.Arg936Ter)SNVPathogenicrs121908390GRCh37Chr 16, 50830354: 50830354

Expression for genes affiliated with Trichoepithelioma, Multiple Familial, 1

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

Pathways for genes affiliated with Trichoepithelioma, Multiple Familial, 1

About this section

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

About this section

Sources for Trichoepithelioma, Multiple Familial, 1

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet