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:
11Disease Ontology, 12diseasecard, 13DISEASES, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
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Aliases & Descriptions for Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas:

Name: Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas 52 12
Pilomatrixoma 52 11 48 25 54 70 27 39 13 68
Pilomatricoma 11 48 25 54 50
Calcifying Epithelioma of Malherbe 48 25
Benign Pilomatricoma 11 25
 
Ptr 48 70
Epithelioma Calcificans of Malherbe 54
Malherbe Calcifying Epithelioma 25
Pilomatricoma, Somatic 52
Benign Pilomatrixoma 25

Characteristics:

Orphanet epidemiological data:

54
pilomatrixoma:
Inheritance: Not applicable; Age of onset: Adolescent,Adult,Childhood

HPO:

64
colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas:
Inheritance: autosomal dominant inheritance, somatic mutation

Classifications:

Orphanet: 54 
Rare skin diseases


External Ids:

OMIM52 132600
Disease Ontology11 DOID:5374
MeSH39 D018296
NCIt45 C7368
Orphanet54 ORPHA91414
SNOMED-CT62 274901004, 44155009
MESH via Orphanet40 D018296
UMLS via Orphanet69 C0206711
ICD10 via Orphanet31 C44.3, C44.6
MedGen37 C0206711

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

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NIH Rare Diseases:48 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 limbs/digits/tail.

Genetics Home Reference:25 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:70 Pilomatrixoma: Common benign skin tumor.

Description from OMIM:52 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 88)
idRelated DiseaseScoreTop Affiliating Genes
1skin pilomatrix carcinoma11.5
2hemoglobin e disease10.5CTNNB1, HOXC13
3humeroradial synostosis10.5BMP2, BMP4
4syphilitic myelopathy10.4BMP2, BMP4
5short qt syndrome10.4BMP2, BMP4
6cervical benign neoplasm10.4BMP2, BMP4
7descending colon cancer10.4BMP2, BMP4
8gastrointestinal neuroendocrine tumor10.4CTNNB1, MUTYH
9mature b-cell neoplasm10.3CTNNB1, KRT14
10idiopathic corneal edema10.3BMP2, BMP4
11bartholin's gland small cell carcinoma10.3CTNNB1, KRT5
12periapical granuloma10.3CTNNB1, MUTYH
13pachyonychia congenita 310.3KRT14, KRT5
14dowling-degos disease 110.3KRT14, KRT5
15quinquaud's decalvans folliculitis10.2KRT14, KRT5
16sed congenita10.2KRT14, KRT5
17benign intermediate mesothelioma10.2KRT14, KRT5
18female breast lower-inner quadrant cancer10.2KRT14, KRT5
19breast neuroendocrine neoplasm10.2KRT14, KRT5
20darier disease10.2KRT14, KRT5
21oligoastrocytoma10.2KRT14, KRT5
22bladder clear cell adenocarcinoma10.2KRT14, 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 carcinoma10.1KRT14, KRT5
30bone squamous cell carcinoma10.1CTNNB1, HOXC13, KRT14
31anal squamous cell carcinoma10.1KRT14, KRT17
32multiple synostoses syndrome10.1BMP4, CTNNB1
33craniodiaphyseal dysplasia, autosomal dominant10.1KRT10, KRT17
34pneumonia10.1KRT10, KRT5
35myotonia atrophica10.1
36myotonia10.1
37malignant epithelial mesothelioma10.1KRT10, KRT5
38bladder verrucous squamous cell carcinoma10.1KRT10, KRT5
39capillary lymphangioma10.0KRT10, KRT14
40female reproductive system disease10.0KRT10, KRT14
41cystic nephroma10.0KRT14, KRT17
42bullous keratopathy9.9KRT10, KRT14
43vulval paget's disease9.9KRT14, KRT5
44lipomatosis9.9KRT10, KRT17
45keratosis palmoplantaris striata iii9.9KRT1, KRT17
46ichthyosis vulgaris9.9KRT1, KRT14
47stromal keratitis9.9CTNNB1, KRT10, KRT5
48craniopharyngioma9.9
49ureterocele9.9KRT14, KRT5
50ebola hemorrhagic fever9.9KRT1, KRT10

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 & Phenotypes for Colorectal Adenomatous Polyposis, Autosomal Recessive, with...

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Symptoms by clinical synopsis from OMIM:

132600

Clinical features from OMIM:

132600

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

 64
id Description HPO Frequency HPO Source Accession
1 pilomatrixoma64 HP:0030434

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.5BMP2, BMP4, CTNNB1, KRT14, OVOL2
2MP:00053719.4BMP2, BMP4, CTNNB1, HOXC13, KRT5
3MP:00011868.4CTNNB1, KRT1, KRT14, KRT17
4MP:00053828.1BMP2, BMP4, CTNNB1, HOXC13, KRT14, KRT17
5MP:00053818.1BMP2, BMP4, CTNNB1, HOXC13, KRT14, KRT17
6MP:00107718.0BMP4, CTNNB1, HOXC13, KRT1, KRT14, KRT17
7MP:00053787.2BMP2, BMP4, CTNNB1, HOXC13, KRT1, KRT14
8MP:00107686.8BMP2, BMP4, CTNNB1, HOXC13, KRT1, KRT14

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 PilomatricomaUnknown statusNCT00715819
2Clinical Trial Comparing Tissue Adhesive Vs. Absorbable Suture Vs. Non-Absorbable SutureUnknown statusNCT00292513

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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 Pilomatrixoma27

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:

36
Skin

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:

70
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
1MUTYHNM_001128425.1(MUTYH): c.933+3A> CSNVPathogenicrs587780751GRCh37Chr 1, 45797835: 45797835
2CTNNB1NM_001904.3(CTNNB1): c.98C> A (p.Ser33Tyr)SNVPathogenicrs121913400GRCh37Chr 3, 41266101: 41266101
3CTNNB1NM_001904.3(CTNNB1): c.95A> G (p.Asp32Gly)SNVLikely pathogenic, Pathogenicrs121913396GRCh37Chr 3, 41266098: 41266098
4CTNNB1NM_001904.3(CTNNB1): c.110C> G (p.Ser37Cys)SNVLikely pathogenic, Pathogenicrs121913403GRCh37Chr 3, 41266113: 41266113
5CTNNB1NM_001904.3(CTNNB1): c.94G> T (p.Asp32Tyr)SNVPathogenicrs28931588GRCh37Chr 3, 41266097: 41266097
6CTNNB1NM_001904.3(CTNNB1): c.98C> T (p.Ser33Phe)SNVPathogenicrs121913400GRCh37Chr 3, 41266101: 41266101
7CTNNB1NM_001904.3(CTNNB1): c.101G> A (p.Gly34Glu)SNVPathogenicrs28931589GRCh37Chr 3, 41266104: 41266104
8CTNNB1NM_001904.3(CTNNB1): c.110C> T (p.Ser37Phe)SNVPathogenicrs121913403GRCh37Chr 3, 41266113: 41266113
9CTNNB1NM_001904.3(CTNNB1): c.122C> T (p.Thr41Ile)SNVPathogenicrs121913413GRCh37Chr 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
1COSM5679CTNNB1skin,neck,adnexal tumour,pilomatricomac.110C>Gp.S37C17
2COSM5669CTNNB1skin,neck,adnexal tumour,pilomatricomac.98C>Tp.S33F17
3COSM5662CTNNB1skin,arm,adnexal tumour,pilomatricomac.110C>Tp.S37F16
4COSM5691CTNNB1skin,arm,adnexal tumour,pilomatricomac.95A>Tp.D32V16
5COSM14452PTCH1skin,neck,carcinoma,NSc.2321G>Ap.G774E6
6COSM29072PTCH1skin,neck,carcinoma,NSc.1067+1G>Ap.?6
7COSM29053PTCH1skin,neck,carcinoma,NSc.833G>Ap.W278*6
8COSM498HRASskin,neck,carcinoma,NSc.182A>Tp.Q61L6
9COSM516KRASskin,neck,carcinoma,NSc.34G>Tp.G12C6
10COSM17483PTCH1skin,neck,carcinoma,NSc.1729-1G>Tp.?6
11COSM17468PTCH1skin,neck,carcinoma,NSc.584G>Tp.R195M6
12COSM45774TP53skin,arm,carcinoma,NSc.899C>Gp.P300R5
13COSM10995TP53skin,leg,carcinoma,NSc.580C>Tp.L194F5
14COSM17548PTCH1skin,arm,carcinoma,NSc.3499G>Tp.G1167W5
15COSM44398TP53skin,leg,carcinoma,NSc.682G>Ap.D228N5
16COSM45765TP53skin,leg,carcinoma,NSc.987C>Ap.T329T5
17COSM45114TP53skin,leg,carcinoma,NSc.702C>Ap.Y234*5
18COSM14440PTCH1skin,arm,carcinoma,NSc.1093C>Tp.Q365*5
19COSM10812TP53skin,arm,carcinoma,NSc.722C>Tp.S241F5
20COSM17456PTCH1skin,arm,carcinoma,NSc.1160G>Ap.W387*5
21COSM763PIK3CAskin,back,carcinoma,NSc.1633G>Ap.E545K5
22COSM17521PTCH1skin,leg,carcinoma,NSc.1993C>Gp.R665G5
23COSM45074TP53skin,arm,carcinoma,NSc.829T>Gp.C277G5
24COSM17480PTCH1skin,arm,carcinoma,NSc.1847G>Ap.S616N5
25COSM29057PTCH1skin,leg,carcinoma,NSc.2713C>Tp.Q905*5
26COSM29052PTCH1skin,back,carcinoma,NSc.724C>Tp.Q242*5
27COSM43582TP53skin,arm,carcinoma,NSc.454C>Tp.P152S5
28COSM10863TP53skin,leg,carcinoma,NSc.833C>Tp.P278L5
29COSM496HRASskin,arm,carcinoma,NSc.181C>Ap.Q61K5
30COSM1735721RB1skin,leg,carcinoma,NSc.297G>Ap.W99*5
31COSM1735722RB1skin,leg,carcinoma,NSc.298G>Ap.G100R5
32COSM44225TP53skin,arm,carcinoma,NSc.859G>Ap.E287K5
33COSM12475CDKN2Askin,leg,carcinoma,NSc.238C>Tp.R80*5
34COSM13146SMOskin,arm,carcinoma,NSc.1604G>Tp.W535L5

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:00719449.8CTNNB1, KRT14, KRT17
2intermediate filamentGO:00058828.9KRT10, KRT14, KRT17, KRT5
3keratin filamentGO:00450958.7KRT1, KRT14, 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
1epithelial to mesenchymal transitionGO:000183710.6BMP2, CTNNB1
2anterior/posterior axis specificationGO:000994810.6BMP4, CTNNB1
3embryonic cranial skeleton morphogenesisGO:004870110.6BMP4, CTNNB1
4embryonic hindlimb morphogenesisGO:003511610.6BMP4, CTNNB1
5epithelial tube branching involved in lung morphogenesisGO:006044110.6BMP4, CTNNB1
6positive regulation of epithelial to mesenchymal transitionGO:001071810.6BMP2, CTNNB1
7negative regulation of chondrocyte differentiationGO:003233110.6BMP4, CTNNB1
8negative regulation of oligodendrocyte differentiationGO:004871510.6BMP4, CTNNB1
9positive regulation of branching involved in lung morphogenesisGO:006104710.6BMP4, CTNNB1
10positive regulation of endothelial cell differentiationGO:004560310.6BMP4, CTNNB1
11BMP signaling pathway involved in heart inductionGO:000313010.6BMP2, BMP4
12cardiac muscle cell differentiationGO:005500710.6BMP2, BMP4
13cellular response to BMP stimulusGO:007177310.6BMP2, BMP4
14mesenchymal cell proliferation involved in ureteric bud developmentGO:007213810.6BMP2, BMP4
15negative regulation of cell cycleGO:004578610.6BMP2, BMP4
16positive regulation of bone mineralizationGO:003050110.6BMP2, BMP4
17positive regulation of cartilage developmentGO:006103610.6BMP2, BMP4
18positive regulation of ossificationGO:004577810.6BMP2, BMP4
19positive regulation of pri-miRNA transcription from RNA polymerase II promoterGO:190289510.5BMP2, BMP4
20regulation of smooth muscle cell proliferationGO:004866010.5BMP4, CTNNB1
21renal system developmentGO:007200110.4BMP4, CTNNB1
22hair follicle morphogenesisGO:003106910.4CTNNB1, KRT17
23regulation of odontogenesis of dentin-containing toothGO:004248710.4BMP2, BMP4
24smooth muscle cell differentiationGO:005114510.3BMP4, CTNNB1
25branching involved in ureteric bud morphogenesisGO:000165810.3BMP2, BMP4, CTNNB1
26cellular response to growth factor stimulusGO:007136310.3BMP2, BMP4, CTNNB1
27negative regulation of gene expressionGO:001062910.3BMP2, BMP4, CTNNB1
28odontogenesis of dentin-containing toothGO:004247510.3BMP2, BMP4, CTNNB1
29hemidesmosome assemblyGO:003158110.3KRT14, KRT5
30positive regulation of osteoblast differentiationGO:004566910.3BMP2, BMP4, CTNNB1
31telencephalon developmentGO:002153710.2BMP2, BMP4
32telencephalon regionalizationGO:002197810.2BMP2, BMP4
33trachea formationGO:006044010.2BMP4, CTNNB1
34tongue morphogenesisGO:004358710.2BMP4, HOXC13
35skeletal system developmentGO:000150110.0BMP2, BMP4, CTNNB1
36regulation of angiogenesisGO:004576510.0CTNNB1, KRT1
37heart developmentGO:00075079.9BMP2, BMP4, CTNNB1, OVOL2
38negative regulation of cell proliferationGO:00082859.9BMP2, BMP4, CTNNB1, OVOL2
39negative regulation of transcription, DNA-templatedGO:00458929.9BMP2, BMP4, CTNNB1, OVOL2
40vasculature developmentGO:00019449.8BMP4, CTNNB1
41positive regulation of transcription, DNA-templatedGO:00458939.7BMP2, BMP4, CTNNB1, OVOL2
42positive regulation of transcription from RNA polymerase II promoterGO:00459449.4BMP2, BMP4, CTNNB1, HOXC13, OVOL2
43epidermis developmentGO:00085449.3KRT14, KRT17, KRT5, 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:007070010.4BMP2, BMP4
2co-receptor bindingGO:003970610.3BMP2, 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet