MCID: CLR065
MIFTS: 28

Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas malady

Genetic diseases, Skin diseases, Cancer diseases, Rare diseases categories
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Summaries for Colorectal Adenomatous Polyposis, Autosomal Recessive, with...

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47OMIM, 33MalaCards
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MalaCards: Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas, also known as pilomatrixoma, is related to pilomatrixoma and skin pilomatrix carcinoma. An important gene associated with Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas is MUTYH (mutY homolog). The compounds h2o2 and guanine have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotype tumorigenesis.

Description from OMIM:47 132600

Aliases & Classifications for Colorectal Adenomatous Polyposis, Autosomal Recessive, with...

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49Orphanet, 62UMLS, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Cancer diseases, Rare diseases
Anatomical: Skin diseases


Aliases & Descriptions:

colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas 47
pilomatrixoma 49 62
epithelioma calcificans of malherbe 49
pilomatricoma 49


External Ids:

OMIM47 132600
MESH via Orphanet36 D018296
ICD10 via Orphanet26 D23
SNOMED-CT via Orphanet59 274901004, 44155009
UMLS via Orphanet63 C0206711

Related Diseases for Colorectal Adenomatous Polyposis, Autosomal Recessive, with...

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas:



Diseases related to colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas

Symptoms for Colorectal Adenomatous Polyposis, Autosomal Recessive, with...

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47OMIM
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Symptoms by clinical synopsis from OMIM:

132600

Clinical features from OMIM:

132600

Drugs & Therapeutics for Colorectal Adenomatous Polyposis, Autosomal Recessive, with...

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center for Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas

Genetic Tests for Colorectal Adenomatous Polyposis, Autosomal Recessive, with...

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Anatomical Context for Colorectal Adenomatous Polyposis, Autosomal Recessive, with...

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33MalaCards
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MalaCards organs/tissues related to Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas:

33
Skin

Animal Models for Colorectal Adenomatous Polyposis, Autosomal Recessive, with... or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1CTNNB1, MUTYH

Publications for Colorectal Adenomatous Polyposis, Autosomal Recessive, with...

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Variations for Colorectal Adenomatous Polyposis, Autosomal Recessive, with...

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64UniProtKB/Swiss-Prot, 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas:

64
id Symbol AA change Variation ID SNP ID
1CTNNB1p.Asp32GlyVAR_017615
2CTNNB1p.Asp32TyrVAR_017616rs28931588
3CTNNB1p.Ser33PheVAR_017617
4CTNNB1p.Ser33TyrVAR_017619
5CTNNB1p.Gly34GluVAR_017620
6CTNNB1p.Ser37CysVAR_017625
7CTNNB1p.Ser37PheVAR_017626
8CTNNB1p.Thr41IleVAR_017630

Expression for genes affiliated with Colorectal Adenomatous Polyposis, Autosomal Recessive, with...

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas

Search GEO for disease gene expression data for Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas.

Pathways for genes affiliated with Colorectal Adenomatous Polyposis, Autosomal Recessive, with...

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Compounds for genes affiliated with Colorectal Adenomatous Polyposis, Autosomal Recessive, with...

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Sources:
45Novoseek, 24HMDB, 11DrugBank, 51PharmGKB, 61Tocris Bioscience
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Compounds related to Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1h2o2459.1CTNNB1, MUTYH
2guanine45 24 1111.0CTNNB1, MUTYH
3cisplatin45 51 61 1111.8CTNNB1, MUTYH

GO Terms for genes affiliated with Colorectal Adenomatous Polyposis, Autosomal Recessive, with...

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Products for genes affiliated with Colorectal Adenomatous Polyposis, Autosomal Recessive, with...

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Colorectal Adenomatous Polyposis, Autosomal Recessive, with...

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet