MCID: CLR065
MIFTS: 46

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:
49OMIM, 11diseasecard, 10Disease Ontology, 45NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 47Novoseek, 59SNOMED-CT, 42NCIt, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen
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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 24 65 36 67
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


Classifications:



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OMIM49 132600
Disease Ontology10 DOID:5374
NCIt42 C7368
MeSH36 D018296
Orphanet51 91414
SNOMED-CT59 274901004, 44155009
UMLS via Orphanet66 C0206711
ICD10 via Orphanet28 D23
MESH via Orphanet37 D018296
MedGen34 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 craniopharyngioma and skin pilomatrix carcinoma, and has symptoms including autosomal dominant inheritance, somatic mutation and pilomatrixoma. An important gene associated with Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas is CTNNB1 (Catenin (Cadherin-Associated Protein), Beta 1, 88kDa), 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 reproductive system.

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).

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

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 106)
idRelated DiseaseScoreTop Affiliating Genes
1craniopharyngioma10.3
2skin pilomatrix carcinoma10.3
3hemoglobin e disease10.3CTNNB1, HOXC13
4fibrolamellar carcinoma10.2BMP2, BMP4
5synovial chondromatosis, familial with dwarfism10.2BMP2, BMP4
6brain medulloblastoma10.2BMP2, BMP4
7gastrojejunal ulcer10.2CTNNB1, KRT14
8cone dystrophy10.2BMP2, BMP4
9pseudopseudohypoparathyroidism10.2BMP2, BMP4
10breast cancer10.2
11adenocarcinoma10.2
12basal cell carcinoma10.2
13teratoma10.2
14myotonic dystrophy10.2
15encephalitozoonosis10.2KRT10, KRT14
16pili torti10.2KRT10, KRT14
17angiokeratoma of fordyce10.2BMP4, GALNT3
18gastrointestinal system cancer10.2CTNNB1, MUTYH
19epm2a-related lafora disease10.2KRT14, KRT5
20epidermolysis bullosa simplex, recessive 110.2KRT14, KRT5
21epidermolysis bullosa simplex-mp10.2KRT14, KRT5
22lichen planus pemphigoides10.1KRT14, KRT5
23epidermolysis bullosa simplex, weber-cockayne type10.1KRT14, KRT5
24sed congenita10.1KRT14, KRT5
25osteogenesis imperfecta congenita microcephaly and cataracts10.1BMP2, KRT5
26kidney cortex necrosis10.1KRT14, KRT5
27vaginal adenosarcoma10.1KRT14, KRT5
28anus rhabdomyosarcoma10.1KRT14, KRT5
29incontinentia pigmenti achromians10.1KRT10, KRT5
30capillary lymphangioma10.1KRT10, KRT14
31hidradenoma10.1KRT10, KRT14
32dermal unilateral segmental cavernous angioma10.1KRT10, KRT8
33trichoepithelioma, multiple familial, 110.1KRT14, KRT8
34splenic flexure cancer10.1BMP2, BMP4
35erdheim-chester disease10.1KRT14, KRT5
36iris mixed cell melanoma10.1KRT14, KRT8
37colonic disease10.1CTNNB1, MUTYH
38acute gonococcal cystitis10.1KRT10, KRT14
39autoimmune hemolytic anemia10.1KRT14, KRT8
40extrapulmonary tuberculosis10.1GALNT3, KRT8
41monocular esotropia10.1KRT5, KRT8
42skin glomangioma10.0CTNNB1, KRT14, KRT5
43trachea adenoid cystic carcinoma10.0KRT5, KRT8
44bone peripheral neuroepithelioma10.0KRT5, KRT8
45retinoblastoma10.0
46rubinstein-taybi syndrome10.0
47nasopharyngeal carcinoma10.0
48hemangioma10.0
49langerhans-cell histiocytosis10.0
50nasopharyngitis10.0

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 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 Pilomatrixoma24

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

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:00053778.2BMP2, BMP4, CTNNB1, FLG, KRT10, KRT14
2MP:00053898.0BMP2, BMP4, CTNNB1, GALNT3, KRT14, KRT8
3MP:00053717.9BMP2, BMP4, CTNNB1, GALNT3, HOXC13, KRT10
4MP:00053817.3BMP2, BMP4, CTNNB1, GALNT3, HOXC13, KRT14
5MP:00053826.7BMP2, BMP4, CTNNB1, FLG, GALNT3, HOXC13
6MP:00107716.4BMP4, CTNNB1, FLG, GALNT3, HOXC13, KRT10
7MP:00053786.2BMP2, BMP4, CTNNB1, FLG, GALNT3, HOXC13
8MP:00107686.0BMP2, BMP4, CTNNB1, FLG, HOXC13, KRT10

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.94G> T (p.Asp32Tyr)single nucleotide variantPathogenicrs28931588GRCh37Chr 3, 41266097: 41266097
2CTNNB1NM_001904.3(CTNNB1): c.98C> T (p.Ser33Phe)single nucleotide variantPathogenicrs121913400GRCh37Chr 3, 41266101: 41266101
3CTNNB1NM_001904.3(CTNNB1): c.101G> A (p.Gly34Glu)single nucleotide variantPathogenicrs28931589GRCh37Chr 3, 41266104: 41266104
4CTNNB1NM_001904.3(CTNNB1): c.110C> T (p.Ser37Phe)single nucleotide variantPathogenicrs121913403GRCh37Chr 3, 41266113: 41266113
5CTNNB1NM_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
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
15669CTNNB1skin,neck,adnexal tumour,pilomatricoma1

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 pathways (with members indented)ScoreTop Affiliating Genes
19.8BMP2, BMP4
29.5BMP2, BMP4, CTNNB1
3
Show member pathways
9.5BMP2, BMP4, CTNNB1
49.5BMP2, BMP4, CTNNB1
59.5BMP2, BMP4, CTNNB1
69.5BMP2, BMP4, CTNNB1
7
Show member pathways
8.9KRT14, 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
1cell peripheryGO:00719449.2CTNNB1, KRT14, KRT8
2keratin filamentGO:00450958.4KRT10, KRT14, KRT5, KRT8
3intermediate filamentGO:00058827.7FLG, KRT10, KRT14, KRT5, KRT8

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

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of endothelial cell differentiationGO:004560310.5BMP4, CTNNB1
2positive regulation of branching involved in lung morphogenesisGO:006104710.5BMP4, CTNNB1
3trachea formationGO:006044010.5BMP4, CTNNB1
4mesenchymal to epithelial transition involved in metanephros morphogenesisGO:000333710.4BMP4, CTNNB1
5renal system developmentGO:007200110.4BMP4, CTNNB1
6positive regulation of epithelial to mesenchymal transitionGO:001071810.4BMP2, CTNNB1
7smooth muscle cell differentiationGO:005114510.3BMP4, CTNNB1
8regulation of smooth muscle cell proliferationGO:004866010.3BMP4, CTNNB1
9epithelial to mesenchymal transitionGO:000183710.3BMP2, CTNNB1
10tongue morphogenesisGO:004358710.3BMP4, HOXC13
11BMP signaling pathway involved in heart inductionGO:000313010.3BMP2, BMP4
12telencephalon regionalizationGO:002197810.3BMP2, BMP4
13regulation of odontogenesis of dentin-containing toothGO:004248710.3BMP2, BMP4
14mesenchymal cell proliferation involved in ureteric bud developmentGO:007213810.3BMP2, BMP4
15anterior/posterior axis specificationGO:000994810.2BMP4, CTNNB1
16vasculature developmentGO:000194410.2BMP4, CTNNB1
17negative regulation of chondrocyte differentiationGO:003233110.2BMP4, CTNNB1
18positive regulation of bone mineralizationGO:003050110.2BMP2, BMP4
19embryonic hindlimb morphogenesisGO:003511610.2BMP4, CTNNB1
20positive regulation of ossificationGO:004577810.2BMP2, BMP4
21telencephalon developmentGO:002153710.2BMP2, BMP4
22epithelial tube branching involved in lung morphogenesisGO:006044110.1BMP4, CTNNB1
23positive regulation of cartilage developmentGO:006103610.0BMP2, BMP4
24negative regulation of oligodendrocyte differentiationGO:00487159.9BMP4, CTNNB1
25hemidesmosome assemblyGO:00315819.9KRT14, KRT5
26branching involved in ureteric bud morphogenesisGO:00016589.8BMP2, BMP4, CTNNB1
27positive regulation of osteoblast differentiationGO:00456699.8BMP2, BMP4, CTNNB1
28odontogenesis of dentin-containing toothGO:00424759.7BMP2, BMP4, CTNNB1
29cellular response to BMP stimulusGO:00717739.7BMP2, BMP4
30cellular response to growth factor stimulusGO:00713639.6BMP2, BMP4, CTNNB1
31heart developmentGO:00075079.5BMP2, BMP4, CTNNB1
32skeletal system developmentGO:00015019.2BMP2, BMP4, CTNNB1

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

idNameGO IDScoreTop Affiliating Genes
1co-receptor bindingGO:003970610.2BMP2, BMP4
2transforming growth factor beta receptor bindingGO:000516010.1BMP2, BMP4
3BMP receptor bindingGO:007070010.1BMP2, BMP4
4structural molecule activityGO:00051987.6FLG, KRT10, KRT14, KRT5, KRT8

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