MCID: CLR065
MIFTS: 44

Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Cancer diseases

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

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Sources:
49OMIM, 11diseasecard, 10Disease Ontology, 45NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 47Novoseek, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
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Aliases & Descriptions for Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas:

Name: Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas 49 11
Pilomatrixoma 10 45 23 12 51 67 36 24 65
Pilomatricoma 10 45 23 47 51
Calcifying Epithelioma of Malherbe 45 23
Benign Pilomatricoma 10 23
 
Ptr 45 67
Epithelioma Calcificans of Malherbe 51
Malherbe Calcifying Epithelioma 23
Pilomatricoma, Somatic 49
Benign Pilomatrixoma 23

Characteristics:

HPO:

61
colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas:
Inheritance: somatic mutation, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 132600
Disease Ontology10 DOID:5374
MeSH36 D018296
NCIt42 C7368
Orphanet51 91414
SNOMED-CT59 274901004, 44155009
ICD10 via Orphanet28 D23
MESH via Orphanet37 D018296
UMLS via Orphanet66 C0206711
MedGen34 C0206711
UMLS65 C0206711

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

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NIH Rare Diseases:45 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 skin pilomatrix carcinoma and hemoglobin d disease, and has symptoms including pilomatrixoma An important gene associated with Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas is CTNNB1 (Catenin Beta 1), and among its related pathways are Cardiomyocyte Differentiation through BMP Receptors and Hippo signaling pathway. Affiliated tissues include skin, breast and t cells, and related mouse phenotypes are limbs/digits/tail and integument.

UniProtKB/Swiss-Prot:67 Pilomatrixoma: Common benign skin tumor.

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:49 132600

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

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Diseases related to Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 93)
idRelated DiseaseScoreTop Affiliating Genes
1skin pilomatrix carcinoma28.3CTNNB1, FLG, HOXC13, KRT1, KRT10, KRT14
2hemoglobin d disease10.6CTNNB1, HOXC13
3vulvar benign neoplasm10.5BMP2, BMP4
4pseudopseudohypoparathyroidism10.5BMP2, BMP4
5persistent mullerian duct syndrome10.5BMP2, BMP4
6multiple skull base meningioma10.5CTNNB1, KRT14
7biliary tract neoplasm10.4CTNNB1, MUTYH
8nodular basal cell carcinoma10.4KRT10, KRT14
9renal fibrosis10.3KRT10, KRT14
10acantholytic acanthoma10.3KRT1, KRT10
11frontotemporal lobar degeneration with ubiquitin-positive inclusions10.3KRT1, KRT10
12ichthyosis histrix, curth-macklin type10.3KRT1, KRT10
13drug psychosis10.3KRT1, KRT10
14dermato-cardio-skeletal syndrome, borrone type10.3CTNNB1, KRT5
15dicrocoeliasis10.3BMP2, BMP4
16vulvar angiokeratoma10.3KRT1, KRT14
17venous hemangioma10.3FLG, KRT10
18pachyonychia congenita 310.3KRT14, KRT5
19dowling-degos disease 110.3KRT14, KRT5
20ulnar neuropathy10.3CTNNB1, MUTYH
21braddock syndrome10.3FLG, KRT1
22bile duct mucoepidermoid carcinoma10.3KRT14, KRT5
23epidermolysis bullosa simplex, weber-cockayne type10.2KRT14, KRT5
24female breast upper-inner quadrant cancer10.2KRT14, KRT5
25breast ductal carcinoma10.2KRT14, KRT5
26sebaceous adenocarcinoma10.2KRT14, KRT5
27epidermolysis bullosa simplex-mp10.2KRT14, KRT5
28sed congenita10.2KRT14, KRT5
29strabismus10.2KRT14, KRT5
30skin atrophy10.2KRT14, KRT5
31sarcomatoid mesothelioma10.2KRT10, KRT5
32endometrial small cell carcinoma10.2CTNNB1, KRT5
33transverse colon cancer10.2CTNNB1, KRT8
34histoplasmosis10.1FLG, KRT5
35lymphoepithelioma-like carcinoma10.1KRT14, KRT5
36ichthyosis vulgaris10.1FLG, KRT10
37fanconi anemia, complementation group b10.1FLG, KRT10
38clove syndrome, somatic10.1KRT10, KRT5
39integumentary system cancer10.0CTNNB1, KRT14, KRT5
40sarcomatoid renal cell carcinoma10.0KRT10, KRT8
41craniopharyngioma10.0
42comedo carcinoma10.0KRT14, KRT8
43sebaceous adenoma10.0KRT1, KRT8
44skin squamous cell carcinoma10.0FLG, KRT10
45epidermolysis bullosa simplex, dowling-meara type9.9KRT1, KRT10, KRT14
46retinitis pigmentosa 309.9KRT1, KRT10, KRT14
47scrotum paget's disease9.9KRT14, KRT8
48breast cancer9.9
49basal cell carcinoma9.9
50adenocarcinoma9.9

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 pilomatrixoma HP:0030434

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

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Use of Otoscope as a Non-Invasive Tool for Diagnosis of PilomatricomaRecruitingNCT00715819
2Clinical Trial Comparing Tissue Adhesive Vs. Absorbable Suture Vs. Non-Absorbable SutureRecruitingNCT00292513

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Cochrane evidence based reviews: pilomatrixoma

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:

33
Skin, Breast, T cells, Lung, Endothelial, Prostate, Pituitary

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.8BMP2, BMP4, CTNNB1, HOXC13, KRT5
2MP:00107718.2BMP4, CTNNB1, HOXC13, KRT1, KRT14, KRT5
3MP:00053828.0BMP2, BMP4, CTNNB1, HOXC13, KRT14, KRT5
4MP:00053817.4BMP2, BMP4, CTNNB1, HOXC13, KRT14, KRT5
5MP:00053786.8BMP2, BMP4, CTNNB1, HOXC13, KRT1, KRT14
6MP:00107686.2BMP2, BMP4, CTNNB1, HOXC13, KRT1, KRT14

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:

67
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.98C> A (p.Ser33Tyr)single nucleotide variantPathogenicrs121913400GRCh37Chr 3, 41266101: 41266101
2CTNNB1NM_001904.3(CTNNB1): c.95A> G (p.Asp32Gly)single nucleotide variantLikely pathogenic, Pathogenicrs121913396GRCh37Chr 3, 41266098: 41266098
3CTNNB1NM_001904.3(CTNNB1): c.110C> G (p.Ser37Cys)single nucleotide variantLikely pathogenic, Pathogenicrs121913403GRCh37Chr 3, 41266113: 41266113
4CTNNB1NM_001904.3(CTNNB1): c.94G> T (p.Asp32Tyr)single nucleotide variantPathogenicrs28931588GRCh37Chr 3, 41266097: 41266097
5CTNNB1NM_001904.3(CTNNB1): c.98C> T (p.Ser33Phe)single nucleotide variantPathogenicrs121913400GRCh37Chr 3, 41266101: 41266101
6CTNNB1NM_001904.3(CTNNB1): c.101G> A (p.Gly34Glu)single nucleotide variantPathogenicrs28931589GRCh37Chr 3, 41266104: 41266104
7CTNNB1NM_001904.3(CTNNB1): c.110C> T (p.Ser37Phe)single nucleotide variantPathogenicrs121913403GRCh37Chr 3, 41266113: 41266113
8CTNNB1NM_001904.3(CTNNB1): c.122C> T (p.Thr41Ile)single nucleotide variantPathogenicrs121913413GRCh37Chr 3, 41266125: 41266125

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

7 (show all 34)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1COSM5662CTNNB1skin,neck,adnexal tumour,pilomatricoma17
2COSM5669CTNNB1skin,neck,adnexal tumour,pilomatricoma17
3COSM5679CTNNB1skin,neck,adnexal tumour,pilomatricoma17
4COSM5691CTNNB1skin,arm,adnexal tumour,pilomatricoma16
5COSM498HRASskin,neck,carcinoma,NS6
6COSM516KRASskin,neck,carcinoma,NS6
7COSM14452PTCH1skin,neck,carcinoma,NS6
8COSM17468PTCH1skin,neck,carcinoma,NS6
9COSM17483PTCH1skin,neck,carcinoma,NS6
10COSM29053PTCH1skin,neck,carcinoma,NS6
11COSM29072PTCH1skin,neck,carcinoma,NS6
12COSM496HRASskin,arm,carcinoma,NS5
13COSM763PIK3CAskin,back,carcinoma,NS5
14COSM10812TP53skin,arm,carcinoma,NS5
15COSM13146SMOskin,arm,carcinoma,NS5
16COSM14440PTCH1skin,arm,carcinoma,NS5
17COSM17456PTCH1skin,arm,carcinoma,NS5
18COSM17548PTCH1skin,arm,carcinoma,NS5
19COSM29052PTCH1skin,back,carcinoma,NS5
20COSM43582TP53skin,arm,carcinoma,NS5
21COSM44225TP53skin,arm,carcinoma,NS5
22COSM45074TP53skin,arm,carcinoma,NS5
23COSM45774TP53skin,arm,carcinoma,NS5
24COSM17480PTCH1skin,arm,carcinoma,NS5
25COSM10995TP53skin,leg,carcinoma,basal cell carcinoma5
26COSM17521PTCH1skin,leg,carcinoma,basal cell carcinoma5
27COSM29057PTCH1skin,leg,carcinoma,basal cell carcinoma5
28COSM44398TP53skin,leg,carcinoma,basal cell carcinoma5
29COSM10863TP53skin,lower leg,carcinoma,NS4
30COSM12475CDKN2Askin,lower leg,carcinoma,NS4
31COSM45114TP53skin,lower leg,carcinoma,NS4
32COSM45765TP53skin,lower leg,carcinoma,NS4
33COSM1735721RB1skin,lower leg,carcinoma,NS4
34COSM1735722RB1skin,lower leg,carcinoma,NS4

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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Pathways related to Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.8BMP2, BMP4
29.5BMP2, BMP4, CTNNB1
39.5BMP2, BMP4, CTNNB1
49.5BMP2, BMP4, CTNNB1
59.5BMP2, BMP4, CTNNB1
69.3CTNNB1, KRT1, KRT14
7
Show member pathways
8.1KRT1, KRT14, KRT5, KRT8

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

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Cellular components related to Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:00058829.2KRT10, KRT8
2keratin filamentGO:00450958.0KRT1, KRT14, KRT5, KRT8

Biological processes related to Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas according to GeneCards Suite gene sharing:

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1BMP signaling pathway involved in heart inductionGO:000313010.4BMP2, BMP4
2positive regulation of cartilage developmentGO:006103610.4BMP2, BMP4
3negative regulation of chondrocyte differentiationGO:003233110.4BMP4, CTNNB1
4trachea formationGO:006044010.4BMP4, CTNNB1
5mesenchymal cell proliferation involved in ureteric bud developmentGO:007213810.3BMP2, BMP4
6positive regulation of branching involved in lung morphogenesisGO:006104710.3BMP4, CTNNB1
7regulation of odontogenesis of dentin-containing toothGO:004248710.3BMP2, BMP4
8positive regulation of endothelial cell differentiationGO:004560310.3BMP4, CTNNB1
9chondrocyte differentiationGO:000206210.3BMP2, BMP4
10embryonic hindlimb morphogenesisGO:003511610.2BMP4, CTNNB1
11regulation of cell differentiationGO:004559510.2BMP4, CTNNB1
12embryonic digit morphogenesisGO:004273310.2BMP4, CTNNB1
13telencephalon developmentGO:002153710.2BMP2, BMP4
14smooth muscle cell differentiationGO:005114510.2BMP4, CTNNB1
15epithelial to mesenchymal transitionGO:000183710.2BMP2, CTNNB1
16positive regulation of ossificationGO:004577810.2BMP2, BMP4
17SMAD protein signal transductionGO:006039510.1BMP2, BMP4
18positive regulation of cell differentiationGO:004559710.1BMP2, BMP4
19positive regulation of pathway-restricted SMAD protein phosphorylationGO:001086210.0BMP2, BMP4
20growthGO:004000710.0BMP2, BMP4
21positive regulation of protein bindingGO:003209210.0BMP2, BMP4
22hemidesmosome assemblyGO:003158110.0KRT14, KRT5
23positive regulation of osteoblast differentiationGO:00456699.8BMP2, BMP4, CTNNB1
24tongue morphogenesisGO:00435879.8BMP4, HOXC13
25odontogenesis of dentin-containing toothGO:00424759.7BMP2, BMP4, CTNNB1
26positive regulation of apoptotic processGO:00430659.6BMP2, BMP4, CTNNB1
27positive regulation of gene expressionGO:00106289.5BMP2, BMP4, CTNNB1
28negative regulation of gene expressionGO:00106299.4BMP2, BMP4, CTNNB1

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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet