MCID: CLR065
MIFTS: 34

Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas malady

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

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

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Sources:
46OMIM, 8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 56SNOMED-CT, 39NCIt, 33MeSH, 62UMLS via Orphanet, 34MESH via Orphanet, 26ICD10 via Orphanet
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Aliases & Descriptions for Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas:

Name: Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas 46 9
Pilomatrixoma 46 8 42 21 10 48 22 61
Pilomatricoma 8 42 21 44 48
Epithelioma Calcificans of Malherbe 42 48
Calcifying Epithelioma of Malherbe 42 21
 
Benign Pilomatricoma 8 21
Malherbe Calcifying Epithelioma 21
Pilomatricoma, Somatic 46
Benign Pilomatrixoma 21
Ptr 42


Classifications:



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OMIM46 132600
Disease Ontology8 DOID:5374
NCIt39 C7368
MeSH33 D018296
SNOMED-CT56 44155009, 274901004
Orphanet48 91414
UMLS via Orphanet62 C0206711
MESH via Orphanet34 D018296
ICD10 via Orphanet26 D23

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

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NIH Rare Diseases:42 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:21 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:46 132600

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

id Genetic test Affiliating Genes
1 Pilomatrixoma22

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:

31
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:

35
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:

63
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:

5
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:

6
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 Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1h2o2449.1CTNNB1, MUTYH
2guanine44 24 1111.0CTNNB1, MUTYH
3cisplatin44 50 60 1111.8CTNNB1, MUTYH

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

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

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet