MCID: TRC095
MIFTS: 22

Trichoepithelioma, Multiple Familial, 1 malady

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

Summaries for Trichoepithelioma, Multiple Familial, 1

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OMIM:45 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 trichoepithelioma multiple familial 1, is related to trichoepithelioma, multiple familial, 2 and cylindromatosis, familial, and has symptoms including neoplasm of the skin, teleangiectasia of the skin and neoplasm of the skin. An important gene associated with Trichoepithelioma, Multiple Familial, 1 is CYLD (cylindromatosis (turban tumor syndrome)). Affiliated tissues include skin and eye.

NIH Rare Diseases:41 Multiple familial trichoepithelioma is a rare condition characterized by multiple smooth, round, firm, skin-colored papules that usually occur on the face, but may also occur on the scalp, neck, and trunk. the lesions are derived from immature hair follicles. they may get bigger over time, but they usually do not ulcerate. treatment often involves surgery to remove a single lesion and cryosurgery or laser surgery for multiple ones. it is caused by a mutation in the cyld gene. it is inherited in an autosomal dominant fashion. last updated: 8/30/2009

Aliases & Classifications for Trichoepithelioma, Multiple Familial, 1

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 47Orphanet, 20GeneTests, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Trichoepithelioma, Multiple Familial, 1, Aliases & Descriptions:

Name: Trichoepithelioma, Multiple Familial, 1 45 10
Trichoepithelioma Multiple Familial 1 41 20
Familial Multiple Trichoepithelioma 41 47
 
Multiple Familial Trichoepithelioma 1 41
Familial Multiple Trichoepitheliomata 60
Mft1 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
familial multiple trichoepithelioma:
Inheritance: Autosomal dominant; Age of onset: Childhood


External Ids:

OMIM45 601606
Orphanet47 867
MESH via Orphanet34 C536552
ICD10 via Orphanet26 D23.3
UMLS via Orphanet61 C1275122

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
1trichoepithelioma, multiple familial, 210.1
2cylindromatosis, familial10.1
3brooke-spiegler syndrome10.1

Symptoms for Trichoepithelioma, Multiple Familial, 1

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Symptoms by clinical synopsis from OMIM:

601606

Clinical features from OMIM:

601606

Symptoms:

 47
  • follicular/erythematous/edematous papules/milium
  • skin tumors/lumps/epidermal cysts
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • autosomal dominant inheritance
  • telangiectasiae of the skin
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)

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

(show all 6)
id Description Frequency HPO Source Accession
1 neoplasm of the skin hallmark (90%) HP:0008069
2 teleangiectasia of the skin typical (50%) HP:0100585
3 neoplasm of the skin occasional (7.5%) HP:0008069
4 basal cell carcinoma rare (5%) HP:0002671
5 autosomal dominant inheritance HP:0000006
6 adult onset HP:0003581

Drugs & Therapeutics for Trichoepithelioma, Multiple Familial, 1

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Drug clinical trials:

Search ClinicalTrials for Trichoepithelioma, Multiple Familial, 1

Search 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 120 CYLD

Anatomical Context for Trichoepithelioma, Multiple Familial, 1

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

31
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:

62
id Symbol AA change Variation ID SNP ID
1CYLDp.Glu747GlyVAR_045967

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

6
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 all 127)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
110771TP53skin,NS,carcinoma,basal cell carcinoma3
243702TP53skin,NS,carcinoma,basal cell carcinoma3
343714TP53skin,trunk,carcinoma,basal cell carcinoma3
410887TP53skin,face,carcinoma,basal cell carcinoma3
545015TP53skin,NS,carcinoma,basal cell carcinoma3
644925TP53skin,NS,carcinoma,basal cell carcinoma3
744167TP53skin,NS,carcinoma,basal cell carcinoma3
843665TP53skin,NS,carcinoma,basal cell carcinoma3
944071TP53skin,NS,carcinoma,basal cell carcinoma3
1043577TP53skin,NS,carcinoma,basal cell carcinoma3
1145138TP53skin,trunk,carcinoma,basal cell carcinoma3
126549TP53skin,NS,carcinoma,basal cell carcinoma3
1310726TP53skin,face,carcinoma,basal cell carcinoma3
1411084TP53skin,face,carcinoma,basal cell carcinoma3
1543585TP53skin,face,carcinoma,basal cell carcinoma3
1644227TP53skin,face,carcinoma,basal cell carcinoma3
1744552TP53skin,face,carcinoma,basal cell carcinoma3
1844310TP53skin,NS,carcinoma,basal cell carcinoma3
1943842TP53skin,NS,carcinoma,basal cell carcinoma3
2045734TP53skin,trunk,carcinoma,basal cell carcinoma3
2144096TP53skin,NS,carcinoma,basal cell carcinoma3
2244074TP53skin,NS,carcinoma,basal cell carcinoma3
2345020TP53skin,face,carcinoma,basal cell carcinoma3
2445019TP53skin,face,carcinoma,basal cell carcinoma3
2543608TP53skin,NS,carcinoma,basal cell carcinoma3
2644606TP53skin,NS,carcinoma,basal cell carcinoma3
2743616TP53skin,NS,carcinoma,basal cell carcinoma3
2843635TP53skin,NS,carcinoma,basal cell carcinoma3
2944909TP53skin,face,carcinoma,basal cell carcinoma3
3045740TP53skin,NS,carcinoma,basal cell carcinoma3
3110660TP53skin,NS,carcinoma,basal cell carcinoma3
3210648TP53skin,NS,carcinoma,basal cell carcinoma3
3343742TP53skin,face,carcinoma,basal cell carcinoma3
3443592TP53skin,NS,carcinoma,basal cell carcinoma3
3510992TP53skin,face,carcinoma,basal cell carcinoma3
3610728TP53skin,face,carcinoma,basal cell carcinoma3
3745017TP53skin,face,carcinoma,basal cell carcinoma3
3810704TP53skin,trunk,carcinoma,basal cell carcinoma3
3910863TP53skin,trunk,carcinoma,basal cell carcinoma3
4045732TP53skin,trunk,carcinoma,basal cell carcinoma3
4110768TP53skin,face,carcinoma,basal cell carcinoma3
4244226TP53skin,NS,carcinoma,basal cell carcinoma3
4343581TP53skin,NS,carcinoma,basal cell carcinoma3
4445776TP53skin,face,carcinoma,basal cell carcinoma3
4543920TP53skin,face,carcinoma,basal cell carcinoma3
4645420TP53skin,NS,carcinoma,basal cell carcinoma3
4743584TP53skin,NS,carcinoma,basal cell carcinoma3
4810659TP53skin,NS,carcinoma,basal cell carcinoma3
4943582TP53skin,NS,carcinoma,basal cell carcinoma3
5045739TP53skin,NS,carcinoma,basal cell carcinoma3
516932TP53skin,NS,carcinoma,basal cell carcinoma3
5210656TP53skin,NS,carcinoma,basal cell carcinoma3
5344603TP53skin,NS,carcinoma,basal cell carcinoma3
5444068TP53skin,face,carcinoma,basal cell carcinoma3
5545423TP53skin,NS,carcinoma,basal cell carcinoma3
5610988TP53skin,NS,carcinoma,basal cell carcinoma3
5743596TP53skin,face,carcinoma,basal cell carcinoma3
5844097TP53skin,NS,carcinoma,basal cell carcinoma3
5910812TP53skin,face,carcinoma,basal cell carcinoma3
6043700TP53skin,face,carcinoma,basal cell carcinoma3
6111449TP53skin,face,carcinoma,basal cell carcinoma3
626545TP53skin,face,carcinoma,basal cell carcinoma3
6310939TP53skin,face,carcinoma,basal cell carcinoma3
6411376TP53skin,trunk,carcinoma,basal cell carcinoma3
6543837TP53skin,NS,carcinoma,basal cell carcinoma3
6610794TP53skin,NS,carcinoma,basal cell carcinoma3
6710662TP53skin,NS,carcinoma,basal cell carcinoma3
6810650TP53skin,NS,carcinoma,basal cell carcinoma3
6945424TP53skin,NS,carcinoma,basal cell carcinoma3
7010749TP53skin,NS,carcinoma,basal cell carcinoma3
7144908TP53skin,face,carcinoma,basal cell carcinoma3
7210867TP53skin,NS,carcinoma,basal cell carcinoma3
7329349PTCH1skin,NS,carcinoma,basal cell carcinoma3
7424851PTCH1skin,NS,carcinoma,basal cell carcinoma3
7529043PTCH1skin,face,carcinoma,basal cell carcinoma3
7617494PTCH1skin,face,carcinoma,basal cell carcinoma3
7714439PTCH1skin,face,carcinoma,basal cell carcinoma3
7814453PTCH1skin,face,carcinoma,basal cell carcinoma3
7917468PTCH1skin,neck,carcinoma,basal cell carcinoma3
8017511PTCH1skin,face,carcinoma,basal cell carcinoma3
8117519PTCH1skin,face,carcinoma,basal cell carcinoma3
8217522PTCH1skin,face,carcinoma,basal cell carcinoma3
8317547PTCH1skin,face,carcinoma,basal cell carcinoma3
8417582PTCH1skin,face,carcinoma,basal cell carcinoma3
8517454PTCH1skin,NS,carcinoma,basal cell carcinoma3
8629348PTCH1skin,NS,carcinoma,basal cell carcinoma3
8717434PTCH1skin,NS,carcinoma,basal cell carcinoma3
8896963PTCH1skin,NS,carcinoma,basal cell carcinoma3
8917520PTCH1skin,face,carcinoma,basal cell carcinoma3
9017460PTCH1skin,face,carcinoma,basal cell carcinoma3
9117498PTCH1skin,face,carcinoma,basal cell carcinoma3
9217601PTCH1skin,face,carcinoma,basal cell carcinoma3
9317481PTCH1skin,NS,carcinoma,basal cell carcinoma3
9417492PTCH1skin,face,carcinoma,basal cell carcinoma3
9526361PTCH1skin,NS,carcinoma,basal cell carcinoma3
9617599PTCH1skin,face,carcinoma,basal cell carcinoma3
9717600PTCH1skin,face,carcinoma,basal cell carcinoma3
9817585PTCH1skin,face,carcinoma,basal cell carcinoma3
9917491PTCH1skin,scalp,carcinoma,basal cell carcinoma3
10017584PTCH1skin,face,carcinoma,basal cell carcinoma3
10117496PTCH1skin,face,carcinoma,basal cell carcinoma3
10217490PTCH1skin,scalp,carcinoma,basal cell carcinoma3
10326372PTCH1skin,NS,carcinoma,basal cell carcinoma3
10417489PTCH1skin,face,carcinoma,basal cell carcinoma3
10514445PTCH1skin,face,carcinoma,basal cell carcinoma3
1061651688PTCH1skin,NS,carcinoma,basal cell carcinoma3
10726365PTCH1skin,NS,carcinoma,basal cell carcinoma3
10817592PTCH1skin,NS,carcinoma,basal cell carcinoma3
10996958PTCH1skin,NS,carcinoma,basal cell carcinoma3
11096957PTCH1skin,NS,carcinoma,basal cell carcinoma3
11129040PTCH1skin,face,carcinoma,basal cell carcinoma3
11296959PTCH1skin,NS,carcinoma,basal cell carcinoma3
11396960PTCH1skin,NS,carcinoma,basal cell carcinoma3
11414452PTCH1skin,neck,carcinoma,basal cell carcinoma3
115490HRASskin,NS,carcinoma,basal cell carcinoma3
116486HRASskin,NS,carcinoma,basal cell carcinoma3
117498HRASskin,face,carcinoma,basal cell carcinoma3
118502HRASskin,face,carcinoma,basal cell carcinoma3
119483HRASskin,face,carcinoma,basal cell carcinoma3
120521KRASskin,face,carcinoma,basal cell carcinoma3
121516KRASskin,neck,carcinoma,basal cell carcinoma3
122553KRASskin,NS,carcinoma,basal cell carcinoma3
1235662CTNNB1skin,NS,carcinoma,basal cell carcinoma3
12412476CDKN2Askin,NS,carcinoma,basal cell carcinoma3
125564NRASskin,face,carcinoma,basal cell carcinoma3
12613234SUFUskin,face,carcinoma,basal cell carcinoma3
12713146SMOskin,face,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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Compounds 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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Products for genes affiliated with Trichoepithelioma, Multiple Familial, 1

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Sources for Trichoepithelioma, Multiple Familial, 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet