MCID: CLR065
MIFTS: 28

Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas malady

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

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

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48OMIM, 34MalaCards
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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:48 132600

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

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50Orphanet, 63UMLS, 48OMIM, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS 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 48
pilomatrixoma 50 63
epithelioma calcificans of malherbe 50
pilomatricoma 50


External Ids:

OMIM48 132600
MESH via Orphanet37 D018296
ICD10 via Orphanet27 D23
SNOMED-CT via Orphanet60 274901004, 44155009
UMLS via Orphanet64 C0206711

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

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18GeneCards, 19GeneDecks
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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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48OMIM
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

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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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34MalaCards
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MalaCards organs/tissues related to Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas:

34
Skin

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

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38MGI
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MGI Mouse Phenotypes related to Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas:

38
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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65UniProtKB/Swiss-Prot, 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas:

65
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, 16Gene 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:
46Novoseek, 25HMDB, 12DrugBank, 52PharmGKB, 62Tocris Bioscience
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Compounds related to Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1h2o2469.1CTNNB1, MUTYH
2guanine46 25 1211.0CTNNB1, MUTYH
3cisplatin46 52 62 1211.8CTNNB1, 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet