MCID: CLR065
MIFTS: 40

Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas malady

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

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NIH Rare Diseases:43 Pilomatrixoma is a benign (non-cancerous) skin tumor of the hair follicle (structure in the skin that makes hair). they tend to develop in the head and neck area and are usually not associated with any other signs and symptoms (isolated). rarely, pilomatrixomas can become cancerous (known as a pilomatrix carcinoma). although they can occur in people of all ages, pilomatrixomas are most commonly diagnosed in people under age 20. the exact underlying cause is not well understood; however, somatic changes (mutations) in the ctnnb1 gene are found in most isolated pilomatrixomas. rarely, pilomatrixomas occur in people with certain genetic syndromes such as gardner syndrome, myotonic dystrophy, and rubinstein-taybi syndrome; in these cases, affected people usually have other characteristic signs and symptoms of the associated condition. they are usually treated with surgical excision. last updated: 1/23/2015

MalaCards based summary: Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas, also known as pilomatrixoma, is related to craniopharyngioma and skin pilomatrix carcinoma, and has symptoms including autosomal dominant inheritance, somatic mutation and neoplasm of the skin. An important gene associated with Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas is CTNNB1 (catenin (cadherin-associated protein), beta 1, 88kDa). The compounds h2o2 and guanine have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotype tumorigenesis.

Genetics Home Reference:23 Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) skin tumor associated with hair follicles. Hair follicles are specialized structures in the skin where hair growth occurs. Pilomatricomas occur most often on the head or neck, although they can also be found on the arms, torso, or legs. A pilomatricoma feels like a small, hard lump under the skin. This type of tumor grows relatively slowly and usually does not cause pain or other symptoms. Most affected individuals have a single tumor, although rarely multiple pilomatricomas can occur. If a pilomatricoma is removed surgically, it tends not to grow back (recur).

Description from OMIM:47 132600

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

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Sources:
47OMIM, 10Disease Ontology, 11diseasecard, 43NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 45Novoseek, 49Orphanet, 24GTR, 62UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 63UMLS via Orphanet, 36MESH via Orphanet, 28ICD10 via Orphanet
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Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas, Aliases & Descriptions:

Name: Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas 47 11
Pilomatrixoma 47 10 43 23 12 49 24 62
Pilomatricoma 10 43 23 45 49 62
Epithelioma Calcificans of Malherbe 43 49 62
Calcifying Epithelioma of Malherbe 43 23
 
Benign Pilomatricoma 10 23
Malherbe Calcifying Epithelioma 23
Pilomatricoma, Somatic 47
Benign Pilomatrixoma 23
Ptr 43


Classifications:

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


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OMIM47 132600
Disease Ontology10 DOID:5374
NCIt40 C7368
MeSH35 D018296
SNOMED-CT57 44155009, 274901004
Orphanet49 91414
UMLS via Orphanet63 C0206711
MESH via Orphanet36 D018296
ICD10 via Orphanet28 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:

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

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Genetic tests related to Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas:

id Genetic test Affiliating Genes
1 Pilomatrixoma24

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:

33
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:

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

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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:

7
id Gene Variation Type Significance SNP ID Assembly Location
1CTNNB1NM_001904.3(CTNNB1): c.95A> G (p.Asp32Gly)single nucleotide variantLikely pathogenic, 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

Cosmic variations for Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas:

8
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
110812TP53skin,arm,carcinoma,basal cell carcinoma1

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

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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
1h2o2459.1CTNNB1, MUTYH
2guanine45 26 1311.0CTNNB1, MUTYH
3cisplatin45 51 61 1311.8CTNNB1, MUTYH

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

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4CDC
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24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet