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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MalaCards based summary: Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas, also known as epithelioma calcificans of malherbe, is related to pilomatrixoma and craniopharyngioma, and has symptoms including 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:46 132600

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

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Sources:
48Orphanet, 62UMLS, 46OMIM, 63UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
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Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas, Aliases & Descriptions:

Name: Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas 46
Epithelioma Calcificans of Malherbe 48 62
 
Pilomatrixoma 48 62
Pilomatricoma 48 62


Classifications:

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


External Ids:

UMLS via Orphanet63 C0206711
OMIM46 132600
MESH via Orphanet35 D018296
ICD10 via Orphanet26 D23

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

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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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Symptoms by clinical synopsis from OMIM:

132600

Clinical features from OMIM:

132600

HPO human phenotypes related to Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 somatic mutation HP:0001428
3 neoplasm of the skin HP:0008069

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

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Drug clinical trials:

Search ClinicalTrials for Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas

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

32
Skin

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

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

36
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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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

Clinvar genetic disease variations for Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas:

6
id Gene Name Type Significance SNP ID Assembly Location
1CTNNB1NM_001904.3(CTNNB1): c.95A> G (p.Asp32Gly)single nucleotide variantLikely pathogenicrs121913396GRCh37Chr 3, 41266098: 41266098
2CTNNB1NM_001904.3(CTNNB1): c.94G> T (p.Asp32Tyr)single nucleotide variantPathogenicrs28931588GRCh37Chr 3, 41266097: 41266097
3CTNNB1NM_001904.3(CTNNB1): c.98C> T (p.Ser33Phe)single nucleotide variantPathogenicrs121913400GRCh37Chr 3, 41266101: 41266101
4CTNNB1NM_001904.3(CTNNB1): c.101G> A (p.Gly34Glu)single nucleotide variantPathogenicrs28931589GRCh37Chr 3, 41266104: 41266104
5CTNNB1NM_001904.3(CTNNB1): c.110C> T (p.Ser37Phe)single nucleotide variantPathogenicrs121913403GRCh37Chr 3, 41266113: 41266113
6CTNNB1NM_001904.3(CTNNB1): c.122C> T (p.Thr41Ile)single nucleotide variantPathogenicrs121913413GRCh37Chr 3, 41266125: 41266125

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

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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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Compounds related to Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1h2o2449.1CTNNB1, MUTYH
2guanine44 24 1111.0CTNNB1, MUTYH
3cisplatin44 50 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

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

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet