MCID: CLR065
MIFTS: 46

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:
50OMIM, 12diseasecard, 11Disease Ontology, 46NIH Rare Diseases, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 37MeSH, 66UMLS, 48Novoseek, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The 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 50 12
Pilomatrixoma 50 11 46 24 13 52 68 25 37 66
Pilomatricoma 11 46 24 52 48
Calcifying Epithelioma of Malherbe 46 24
Benign Pilomatricoma 11 24
 
Ptr 46 68
Epithelioma Calcificans of Malherbe 52
Malherbe Calcifying Epithelioma 24
Pilomatricoma, Somatic 50
Benign Pilomatrixoma 24

Characteristics:

Orphanet epidemiological data:

52
pilomatrixoma:
Inheritance: Not applicable; Age of onset: Adolescent,Adult,Childhood

HPO:

62
colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas:
Inheritance: autosomal dominant inheritance, somatic mutation


Classifications:

Orphanet: 52 
Rare skin diseases


External Ids:

OMIM50 132600
Disease Ontology11 DOID:5374
MeSH37 D018296
NCIt43 C7368
Orphanet52 ORPHA91414
SNOMED-CT60 274901004, 44155009
ICD10 via Orphanet29 C44.6, C44.3
MESH via Orphanet38 D018296
UMLS via Orphanet67 C0206711
MedGen35 C0206711

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

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NIH Rare Diseases:46 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 e 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, and related mouse phenotypes are hearing/vestibular/ear and pigmentation.

Genetics Home Reference:24 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).

UniProtKB/Swiss-Prot:68 Pilomatrixoma: Common benign skin tumor.

Description from OMIM:50 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 89)
idRelated DiseaseScoreTop Affiliating Genes
1skin pilomatrix carcinoma11.4
2hemoglobin e disease10.6CTNNB1, HOXC13
3humeroradial synostosis10.6BMP2, BMP4
4syphilitic myelopathy10.5BMP2, BMP4
5short qt syndrome10.5BMP2, BMP4
6cervical benign neoplasm10.5BMP2, BMP4
7descending colon cancer10.5BMP2, BMP4
8gastrointestinal neuroendocrine tumor10.4CTNNB1, MUTYH
9mature b-cell neoplasm10.4CTNNB1, KRT14
10idiopathic corneal edema10.4BMP2, BMP4
11bartholin's gland small cell carcinoma10.4CTNNB1, KRT5
12periapical granuloma10.3CTNNB1, MUTYH
13pachyonychia congenita 310.3KRT14, KRT5
14dowling-degos disease 110.3KRT14, KRT5
15quinquaud's decalvans folliculitis10.3KRT14, KRT5
16sed congenita10.3KRT14, KRT5
17benign intermediate mesothelioma10.3KRT14, KRT5
18female breast lower-inner quadrant cancer10.3KRT14, KRT5
19breast neuroendocrine neoplasm10.3KRT14, KRT5
20darier disease10.3KRT14, KRT5
21oligoastrocytoma10.3KRT14, KRT5
22bladder clear cell adenocarcinoma10.3KRT14, KRT5
23male reproductive organ cancer10.2BMP2, CTNNB1, KRT14
24gilbert syndrome10.2KRT14, KRT5
25cryptosporidiosis10.2KRT17, KRT5
26water-clear cell adenoma10.2KRT14, KRT5
27connective tissue benign neoplasm10.2KRT14, KRT5
28papillary adenoma10.2KRT14, KRT5
29pleomorphic carcinoma10.2KRT14, KRT5
30bone squamous cell carcinoma10.2CTNNB1, HOXC13, KRT14
31craniodiaphyseal dysplasia, autosomal dominant10.1KRT10, KRT17
32anal squamous cell carcinoma10.1KRT14, KRT17
33small cell neuroendocrine carcinoma10.1CTNNB1, KRT14
34pneumonia10.1KRT10, KRT5
35malignant epithelial mesothelioma10.1KRT10, KRT5
36bladder verrucous squamous cell carcinoma10.1KRT10, KRT5
37capillary lymphangioma10.0KRT10, KRT14
38female reproductive system disease10.0KRT10, KRT14
39craniopharyngioma10.0
40cystic nephroma10.0KRT14, KRT17
41keratosis palmoplantaris striata iii9.9KRT1, KRT17
42multiple synostoses syndrome9.9BMP4, CTNNB1
43bullous keratopathy9.9KRT10, KRT14
44breast cancer9.9
45basal cell carcinoma9.9
46adenocarcinoma9.9
47teratoma9.9
48lipomatosis9.9KRT10, KRT17
49stromal keratitis9.9CTNNB1, KRT10, KRT5
50ichthyosis vulgaris9.9KRT1, KRT14

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

id Genetic test Affiliating Genes
1 Pilomatrixoma25

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:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1BMP2, BMP4, CTNNB1, KRT14, OVOL2
2MP:00011868.8CTNNB1, KRT1, KRT14, KRT17
3MP:00053718.6BMP2, BMP4, CTNNB1, HOXC13, KRT5
4MP:00053827.6BMP2, BMP4, CTNNB1, HOXC13, KRT14, KRT17
5MP:00107717.5BMP4, CTNNB1, HOXC13, KRT1, KRT14, KRT17
6MP:00053817.2BMP2, BMP4, CTNNB1, HOXC13, KRT14, KRT17
7MP:00053786.1BMP2, BMP4, CTNNB1, HOXC13, KRT1, KRT14
8MP:00107686.0BMP2, 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:

68
id Symbol AA change Variation ID SNP ID
1CTNNB1p.Asp32GlyVAR_017615rs121913396
2CTNNB1p.Asp32TyrVAR_017616rs28931588
3CTNNB1p.Ser33PheVAR_017617rs121913400
4CTNNB1p.Ser33TyrVAR_017619rs121913400
5CTNNB1p.Gly34GluVAR_017620rs28931589
6CTNNB1p.Ser37CysVAR_017625rs121913403
7CTNNB1p.Ser37PheVAR_017626rs121913403
8CTNNB1p.Thr41IleVAR_017630rs121913413

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:

8 (show all 34)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1COSM17483PTCH1skin,neck,carcinoma,NSc.1729-1G>Tp.?0
2COSM45765TP53skin,leg,carcinoma,NSc.987C>Ap.T329T0
3COSM498HRASskin,neck,carcinoma,NSc.182A>Tp.Q61L0
4COSM29057PTCH1skin,leg,carcinoma,NSc.2713C>Tp.Q905*0
5COSM10863TP53skin,leg,carcinoma,NSc.833C>Tp.P278L0
6COSM12475CDKN2Askin,leg,carcinoma,NSc.238C>Tp.R80*0
7COSM14452PTCH1skin,neck,carcinoma,NSc.2321G>Ap.G774E0
8COSM44398TP53skin,leg,carcinoma,NSc.682G>Ap.D228N0
9COSM10812TP53skin,arm,carcinoma,NSc.722C>Tp.S241F0
10COSM14440PTCH1skin,arm,carcinoma,NSc.1093C>Tp.Q365*0
11COSM17456PTCH1skin,arm,carcinoma,NSc.1160G>Ap.W387*0
12COSM45074TP53skin,arm,carcinoma,NSc.829T>Gp.C277G0
13COSM17521PTCH1skin,leg,carcinoma,NSc.1993C>Gp.R665G0
14COSM516KRASskin,neck,carcinoma,NSc.34G>Tp.G12C0
15COSM17480PTCH1skin,arm,carcinoma,NSc.1847G>Ap.S616N0
16COSM29052PTCH1skin,back,carcinoma,NSc.724C>Tp.Q242*0
17COSM496HRASskin,arm,carcinoma,NSc.181C>Ap.Q61K0
18COSM1735722RB1skin,leg,carcinoma,NSc.298G>Ap.G100R0
19COSM13146SMOskin,arm,carcinoma,NSc.1604G>Tp.W535L0
20COSM45774TP53skin,arm,carcinoma,NSc.899C>Gp.P300R0
21COSM17548PTCH1skin,arm,carcinoma,NSc.3499G>Tp.G1167W0
22COSM45114TP53skin,leg,carcinoma,NSc.702C>Ap.Y234*0
23COSM29072PTCH1skin,neck,carcinoma,NSc.1067+1G>Ap.?0
24COSM29053PTCH1skin,neck,carcinoma,NSc.833G>Ap.W278*0
25COSM763PIK3CAskin,back,carcinoma,NSc.1633G>Ap.E545K0
26COSM43582TP53skin,arm,carcinoma,NSc.454C>Tp.P152S0
27COSM44225TP53skin,arm,carcinoma,NSc.859G>Ap.E287K0
28COSM10995TP53skin,leg,carcinoma,NSc.580C>Tp.L194F0
29COSM1735721RB1skin,leg,carcinoma,NSc.297G>Ap.W99*0
30COSM17468PTCH1skin,neck,carcinoma,NSc.584G>Tp.R195M0
31COSM5669CTNNB1skin,arm,adnexal tumour,pilomatricomac.98C>Tp.S33F0
32COSM5662CTNNB1skin,arm,adnexal tumour,pilomatricomac.110C>Tp.S37F0
33COSM5679CTNNB1skin,neck,adnexal tumour,pilomatricomac.110C>Gp.S37C0
34COSM5691CTNNB1skin,arm,adnexal tumour,pilomatricomac.95A>Tp.D32V0

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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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
1cell peripheryGO:00719449.2CTNNB1, KRT14, KRT17
2keratin filamentGO:00450958.7KRT1, KRT14, KRT5
3intermediate filamentGO:00058828.1KRT10, KRT14, KRT17, KRT5

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

(show all 43)
idNameGO IDScoreTop Affiliating Genes
1mesenchymal cell proliferation involved in ureteric bud developmentGO:007213810.5BMP2, BMP4
2BMP signaling pathway involved in heart inductionGO:000313010.5BMP2, BMP4
3telencephalon regionalizationGO:002197810.5BMP2, BMP4
4positive regulation of pri-miRNA transcription from RNA polymerase II promoterGO:190289510.5BMP2, BMP4
5positive regulation of ossificationGO:004577810.5BMP2, BMP4
6cardiac muscle cell differentiationGO:005500710.4BMP2, BMP4
7positive regulation of bone mineralizationGO:003050110.4BMP2, BMP4
8telencephalon developmentGO:002153710.4BMP2, BMP4
9negative regulation of cell cycleGO:004578610.4BMP2, BMP4
10epithelial to mesenchymal transitionGO:000183710.4BMP2, CTNNB1
11positive regulation of endothelial cell differentiationGO:004560310.4BMP4, CTNNB1
12trachea formationGO:006044010.4BMP4, CTNNB1
13positive regulation of epithelial to mesenchymal transitionGO:001071810.4BMP2, CTNNB1
14vasculature developmentGO:000194410.4BMP4, CTNNB1
15positive regulation of branching involved in lung morphogenesisGO:006104710.4BMP4, CTNNB1
16embryonic hindlimb morphogenesisGO:003511610.4BMP4, CTNNB1
17smooth muscle cell differentiationGO:005114510.4BMP4, CTNNB1
18regulation of smooth muscle cell proliferationGO:004866010.4BMP4, CTNNB1
19renal system developmentGO:007200110.4BMP4, CTNNB1
20negative regulation of chondrocyte differentiationGO:003233110.4BMP4, CTNNB1
21anterior/posterior axis specificationGO:000994810.4BMP4, CTNNB1
22positive regulation of cartilage developmentGO:006103610.4BMP2, BMP4
23epithelial tube branching involved in lung morphogenesisGO:006044110.3BMP4, CTNNB1
24embryonic cranial skeleton morphogenesisGO:004870110.2BMP4, CTNNB1
25tongue morphogenesisGO:004358710.2BMP4, HOXC13
26hair follicle morphogenesisGO:003106910.2CTNNB1, KRT17
27cellular response to BMP stimulusGO:007177310.1BMP2, BMP4
28hemidesmosome assemblyGO:003158110.1KRT14, KRT5
29cellular response to growth factor stimulusGO:007136310.0BMP2, BMP4, CTNNB1
30regulation of odontogenesis of dentin-containing toothGO:004248710.0BMP2, BMP4
31negative regulation of gene expressionGO:00106299.9BMP2, BMP4, CTNNB1
32branching involved in ureteric bud morphogenesisGO:00016589.9BMP2, BMP4, CTNNB1
33regulation of angiogenesisGO:00457659.9CTNNB1, KRT1
34odontogenesis of dentin-containing toothGO:00424759.9BMP2, BMP4, CTNNB1
35negative regulation of oligodendrocyte differentiationGO:00487159.8BMP4, CTNNB1
36positive regulation of osteoblast differentiationGO:00456699.8BMP2, BMP4, CTNNB1
37skeletal system developmentGO:00015019.8BMP2, BMP4, CTNNB1
38positive regulation of transcription, DNA-templatedGO:00458939.4BMP2, BMP4, CTNNB1, OVOL2
39negative regulation of transcription, DNA-templatedGO:00458929.2BMP2, BMP4, CTNNB1, OVOL2
40heart developmentGO:00075079.2BMP2, BMP4, CTNNB1, OVOL2
41negative regulation of cell proliferationGO:00082859.1BMP2, BMP4, CTNNB1, OVOL2
42epidermis developmentGO:00085449.1KRT14, KRT17, KRT5, OVOL2
43positive regulation of transcription from RNA polymerase II promoterGO:00459448.4BMP2, BMP4, CTNNB1, HOXC13, OVOL2

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

idNameGO IDScoreTop Affiliating Genes
1BMP receptor bindingGO:007070010.0BMP2, BMP4
2co-receptor bindingGO:00397069.5BMP2, BMP4
3structural constituent of cytoskeletonGO:00052009.0KRT14, KRT17, KRT5

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet