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...

About this section
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
See all MalaCards sources

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...

About this section
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, 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...

About this section

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 232)
idRelated DiseaseScoreTop Affiliating Genes
1skin pilomatrix carcinoma30.3CTNNB1, FLG, HOXC13, KRT1, KRT10, KRT14
2hemoglobin d disease10.4CTNNB1, HOXC13
3vulvar benign neoplasm10.3BMP2, BMP4
4pseudopseudohypoparathyroidism10.3BMP2, BMP4
5persistent mullerian duct syndrome10.3BMP2, BMP4
6multiple skull base meningioma10.3CTNNB1, KRT14
7biliary tract neoplasm10.3CTNNB1, MUTYH
8nodular basal cell carcinoma10.3KRT10, KRT14
9renal fibrosis10.2KRT10, KRT14
10acantholytic acanthoma10.2KRT1, KRT10
11frontotemporal lobar degeneration with ubiquitin-positive inclusions10.2KRT1, KRT10
12ichthyosis histrix, curth-macklin type10.2KRT1, KRT10
13drug psychosis10.2KRT1, KRT10
14dermato-cardio-skeletal syndrome, borrone type10.2CTNNB1, KRT5
15dicrocoeliasis10.2BMP2, BMP4
16vulvar angiokeratoma10.2KRT1, KRT14
17venous hemangioma10.2FLG, KRT10
18pachyonychia congenita 310.2KRT14, KRT5
19dowling-degos disease 110.2KRT14, KRT5
20ulnar neuropathy10.2CTNNB1, MUTYH
21braddock syndrome10.2FLG, KRT1
22bile duct mucoepidermoid carcinoma10.2KRT14, KRT5
23epidermolysis bullosa simplex, weber-cockayne type10.2KRT14, KRT5
24female breast upper-inner quadrant cancer10.2KRT14, KRT5
25breast ductal carcinoma10.2KRT14, KRT5
26sebaceous adenocarcinoma10.1KRT14, KRT5
27epidermolysis bullosa simplex-mp10.1KRT14, KRT5
28sed congenita10.1KRT14, KRT5
29leukemia10.1
30strabismus10.1KRT14, KRT5
31skin atrophy10.1KRT14, KRT5
32sarcomatoid mesothelioma10.1KRT10, KRT5
33endometrial small cell carcinoma10.1CTNNB1, KRT5
34transverse colon cancer10.1CTNNB1, KRT8
35histoplasmosis10.1FLG, KRT5
36lymphoepithelioma-like carcinoma10.1KRT14, KRT5
37ichthyosis vulgaris10.1FLG, KRT10
38breast cancer10.0
39cystic fibrosis10.0
40cervicitis10.0
41adenocarcinoma10.0
42cerebritis10.0
43pancreatitis10.0
44borna disease10.0
45adenoma10.0
46neuronitis10.0
47oral cancer10.0
48fanconi anemia, complementation group b10.0FLG, KRT10
49clove syndrome, somatic10.0KRT10, KRT5
50integumentary system cancer10.0CTNNB1, KRT14, KRT5

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...

About this section

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...

About this section

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

Search NIH Clinical Center for Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas


Cochrane evidence based reviews: pilomatrixoma

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

About this section

Anatomical Context for Colorectal Adenomatous Polyposis, Autosomal Recessive, with...

About this section

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

About this section

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...

About this section

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

About this section

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 top 50)    (show all 68)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1COSM17548PTCH1skin,arm,carcinoma,NS3
2COSM29052PTCH1skin,back,carcinoma,NS3
3COSM17548PTCH1skin,arm,carcinoma,NS3
4COSM17521PTCH1skin,lower leg,carcinoma,NS3
5COSM17521PTCH1skin,lower leg,carcinoma,NS3
6COSM29052PTCH1skin,back,carcinoma,NS3
7COSM29053PTCH1skin,neck,carcinoma,NS3
8COSM17480PTCH1skin,arm,carcinoma,NS3
9COSM17480PTCH1skin,arm,carcinoma,NS3
10COSM29057PTCH1skin,lower leg,carcinoma,NS3
11COSM29057PTCH1skin,lower leg,carcinoma,NS3
12COSM29053PTCH1skin,neck,carcinoma,NS3
13COSM17483PTCH1skin,neck,carcinoma,NS3
14COSM17483PTCH1skin,neck,carcinoma,NS3
15COSM14440PTCH1skin,lower leg,carcinoma,NS3
16COSM14440PTCH1skin,lower leg,carcinoma,NS3
17COSM14440PTCH1skin,arm,carcinoma,NS3
18COSM14440PTCH1skin,arm,carcinoma,NS3
19COSM14440PTCH1skin,lower leg,carcinoma,NS3
20COSM14452PTCH1skin,neck,carcinoma,NS3
21COSM14452PTCH1skin,neck,carcinoma,NS3
22COSM17468PTCH1skin,neck,carcinoma,NS3
23COSM17468PTCH1skin,neck,carcinoma,NS3
24COSM17456PTCH1skin,arm,carcinoma,NS3
25COSM17456PTCH1skin,arm,carcinoma,NS3
26COSM14440PTCH1skin,lower leg,carcinoma,NS3
27COSM45114TP53skin,lower leg,carcinoma,NS3
28COSM45074TP53skin,arm,carcinoma,NS3
29COSM45074TP53skin,arm,carcinoma,NS3
30COSM44398TP53skin,lower leg,carcinoma,NS3
31COSM45114TP53skin,lower leg,carcinoma,NS3
32COSM45765TP53skin,lower leg,carcinoma,NS3
33COSM45774TP53skin,arm,carcinoma,NS3
34COSM45774TP53skin,arm,carcinoma,NS3
35COSM45765TP53skin,lower leg,carcinoma,NS3
36COSM44398TP53skin,lower leg,carcinoma,NS3
37COSM44225TP53skin,arm,carcinoma,NS3
38COSM10863TP53skin,lower leg,carcinoma,NS3
39COSM10863TP53skin,lower leg,carcinoma,NS3
40COSM10812TP53skin,arm,carcinoma,NS3
41COSM10995TP53skin,lower leg,carcinoma,NS3
42COSM10995TP53skin,lower leg,carcinoma,NS3
43COSM44225TP53skin,arm,carcinoma,NS3
44COSM43582TP53skin,arm,carcinoma,NS3
45COSM43582TP53skin,arm,carcinoma,NS3
46COSM10812TP53skin,arm,carcinoma,NS3
47COSM498HRASskin,arm,carcinoma,NS3
48COSM498HRASskin,neck,carcinoma,NS3
49COSM498HRASskin,neck,carcinoma,NS3
50COSM498HRASskin,arm,carcinoma,NS3

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

About this section
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...

About this section

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...

About this section

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...

About this section
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