EAC
MCID: MLT048
MIFTS: 20

Multiple Familial Trichoepithelioma (EAC) malady

Genetic diseases category

Summaries for Multiple Familial Trichoepithelioma

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32MalaCards
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MalaCards: Multiple Familial Trichoepithelioma, also known as hereditary multiple benign cystic epithelioma, is related to brooke-spiegler syndrome and basal cell carcinoma. An important gene associated with Multiple Familial Trichoepithelioma is CYLD (cylindromatosis (turban tumor syndrome)), and among its related pathways are Wnt / Hedgehog / Notch and Pathways in cancer. Related mouse phenotypes are integument and tumorigenesis.

Aliases & Classifications for Multiple Familial Trichoepithelioma

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42NIH Rare Diseases, 21Genetics Home Reference, 60UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases


Aliases & Descriptions:

multiple familial trichoepithelioma 42 21
hereditary multiple benign cystic epithelioma 42 21
familial multiple trichoepitheliomata 21 60
brooke-fordyce trichoepitheliomas 42 21
epithelioma adenoides cysticum of brooke 21
trichoepithelioma multiple familial 42
epithelioma adenoides cysticum 42
mft 21
eac 21


Related Diseases for Multiple Familial Trichoepithelioma

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Multiple Familial Trichoepithelioma:



Diseases related to multiple familial trichoepithelioma

Clinical Features for Multiple Familial Trichoepithelioma

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Drugs & Therapeutics for Multiple Familial Trichoepithelioma

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Multiple Familial Trichoepithelioma

Search CenterWatch for Multiple Familial Trichoepithelioma

Genetic Tests for Multiple Familial Trichoepithelioma

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Anatomical Context for Multiple Familial Trichoepithelioma

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Animal Models for Multiple Familial Trichoepithelioma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Multiple Familial Trichoepithelioma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.8PTCH1, CDKN2B
2MP:00020068.5PTCH1, CYLD, CDKN2B
3MP:00053978.5PTCH1, CYLD, CDKN2B
4MP:00053798.4CDKN2B, CYLD, PTCH1

Publications for Multiple Familial Trichoepithelioma

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Genetic Variations for Multiple Familial Trichoepithelioma

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Expression for genes affiliated with Multiple Familial Trichoepithelioma

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Multiple Familial Trichoepithelioma

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

Pathways for genes affiliated with Multiple Familial Trichoepithelioma

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4Cell Signaling Technology, 29KEGG
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Pathways related to Multiple Familial Trichoepithelioma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3PTCH1, CYLD
29.1PTCH1, CDKN2B

Compounds for genes affiliated with Multiple Familial Trichoepithelioma

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GO Terms for genes affiliated with Multiple Familial Trichoepithelioma

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16Gene Ontology
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Cellular components related to Multiple Familial Trichoepithelioma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1midbodyGO:0304969.3PTCH1, CYLD

Biological processes related to Multiple Familial Trichoepithelioma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of epithelial cell proliferationGO:0506809.1PTCH1, CDKN2B
2regulation of mitotic cell cycleGO:0073469.0PTCH1, CYLD

Molecular functions related to Multiple Familial Trichoepithelioma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein kinase bindingGO:0199019.0CYLD, CDKN2B

Products for genes affiliated with Multiple Familial Trichoepithelioma

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Sources for Multiple Familial Trichoepithelioma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet