MCID: TRC095
MIFTS: 19

Trichoepithelioma, Multiple Familial, 1

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

Aliases & Classifications for Trichoepithelioma, Multiple Familial, 1

MalaCards integrated aliases for Trichoepithelioma, Multiple Familial, 1:

Name: Trichoepithelioma, Multiple Familial, 1 54 13
Multiple Familial Trichoepithelioma 1 50 24 71
Mft1 50 24 71
Hereditary Multiple Benign Cystic Epithelioma 71
Epithelioma Adenoides Cysticum of Brooke 71
Trichoepithelioma Multiple Familial 1 50
Familial Multiple Trichoepitheliomata 69
Brooke-Fordyce Trichoepitheliomas 71
Eac 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
onset in early adulthood
allelic disorder to familial cylindromatosis and brooke-spielger syndrome (bss, )


HPO:

32
trichoepithelioma, multiple familial, 1:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 601606
MedGen 40 C1275122

Summaries for Trichoepithelioma, Multiple Familial, 1

OMIM : 54
Multiple familial trichoepithelioma, also called epithelioma adenoides cysticum (EAC), is an 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 (Johnson and Bennett, 1993). Because BRSS, familial cylindromatosis, and MFT1 are allelic, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity (Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008). Blake and Toro (2009) provided a detailed review of the spectrum of disorders associated with CYLD mutations. (601606)

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 : 71 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

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:

id Related Disease Score Top Affiliating Genes
1 multiple familial trichoepithelioma 11.5
2 trichoepithelioma, multiple familial, 2 10.8
3 cylindromatosis, familial 10.8
4 brooke-spiegler syndrome 10.8

Symptoms & Phenotypes for Trichoepithelioma, Multiple Familial, 1

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Skin:
trichoepitheliomas, multiple (usually occur in thenasolabial folds, the nose, and upper lip)

Neoplasia:
trichoepitheliomas may rarely show malignant transformation to basal cell carcinoma

Skin Nails & Hair- Skin Histology:
dermal aggregates of basaloid cells
tumors show hair follicle differentiation


Clinical features from OMIM:

601606

Human phenotypes related to Trichoepithelioma, Multiple Familial, 1:

32
id Description HPO Frequency HPO Source Accession
1 basal cell carcinoma 32 occasional (7.5%) HP:0002671

Drugs & Therapeutics for Trichoepithelioma, Multiple Familial, 1

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

Genetic Tests for Trichoepithelioma, Multiple Familial, 1

Genetic tests related to Trichoepithelioma, Multiple Familial, 1:

id Genetic test Affiliating Genes
1 Multiple Familial Trichoepithelioma 1 24 CYLD

Anatomical Context for Trichoepithelioma, Multiple Familial, 1

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

39
Skin

Publications for Trichoepithelioma, Multiple Familial, 1

Variations for Trichoepithelioma, Multiple Familial, 1

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

71
id Symbol AA change Variation ID SNP ID
1 CYLD p.Glu747Gly VAR_045967 rs121908389

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CYLD CYLD, 2-BP DEL, 2241AG deletion Pathogenic
2 CYLD CYLD, IVS12AS, T-G, +2 single nucleotide variant Pathogenic
3 CYLD NM_015247.2(CYLD): c.2240A> G (p.Glu747Gly) single nucleotide variant Pathogenic rs121908389 GRCh37 Chromosome 16, 50825600: 50825600
4 CYLD NM_015247.2(CYLD): c.2806C> T (p.Arg936Ter) single nucleotide variant Pathogenic rs121908390 GRCh37 Chromosome 16, 50830354: 50830354

Expression for Trichoepithelioma, Multiple Familial, 1

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

Pathways for Trichoepithelioma, Multiple Familial, 1

GO Terms for Trichoepithelioma, Multiple Familial, 1

Sources for Trichoepithelioma, Multiple Familial, 1

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10 dbSNP
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16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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42 MeSH
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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