MCID: CLR065
MIFTS: 43

Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas

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

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

MalaCards integrated aliases for Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas:

Name: Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas 54 13
Pilomatrixoma 12 50 25 56 71 29 42 14 69
Pilomatricoma 12 50 25 56 52
Calcifying Epithelioma of Malherbe 50 25
Benign Pilomatricoma 12 25
Ptr 50 71
Epithelioma Calcificans of Malherbe 56
Malherbe Calcifying Epithelioma 25
Pilomatricoma, Somatic 54
Benign Pilomatrixoma 25

Characteristics:

Orphanet epidemiological data:

56
pilomatrixoma
Inheritance: Not applicable; Age of onset: Adolescent,Adult,Childhood;

OMIM:

54
Inheritance:
somatic mutation


HPO:

32
colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas:
Inheritance somatic mutation autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 132600
Disease Ontology 12 DOID:5374
MeSH 42 D018296
NCIt 47 C7368
SNOMED-CT 64 274901004 44155009
Orphanet 56 ORPHA91414
MESH via Orphanet 43 D018296
UMLS via Orphanet 70 C0206711
ICD10 via Orphanet 34 C44.3 C44.6
MedGen 40 C0206711
UMLS 69 C0206711

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

NIH Rare Diseases : 50 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 bilateral retinoblastoma and skin pilomatrix carcinoma, 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/superpathways are Hippo signaling pathway and Keratinization. Affiliated tissues include skin, and related phenotypes are craniofacial and digestive/alimentary

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 : 71 Pilomatrixoma: Common benign skin tumor.

Description from OMIM: 132600

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

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 61)
id Related Disease Score Top Affiliating Genes
1 bilateral retinoblastoma 28.5 KRT10 KRT14 KRT17
2 skin pilomatrix carcinoma 11.5
3 internuclear ophthalmoplegia 10.6 CTNNB1 HOXC13
4 ectopic cushing syndrome 10.6 BMP2 BMP4
5 syringobulbia 10.6 BMP2 BMP4
6 humeroradial synostosis 10.5 BMP2 BMP4
7 acth-independent macronodular adrenal hyperplasia 10.5 BMP2 BMP4
8 gastrointestinal neuroendocrine tumor 10.5 CTNNB1 MUTYH
9 short qt syndrome 10.5 BMP2 BMP4
10 corneal dystrophy, fuchs endothelial, 6 10.5 BMP4 OVOL2
11 connective tissue benign neoplasm 10.4 CTNNB1 KRT14
12 spinal cord dermoid cyst 10.4 CTNNB1 KRT14
13 cervical benign neoplasm 10.3 BMP2 BMP4
14 smooth muscle tumor 10.3 BMP2 HFM1
15 idiopathic corneal edema 10.3 BMP2 BMP4
16 penis squamous cell carcinoma 10.2 KRT10 KRT14
17 idiopathic neonatal atrial flutter 10.2 KRT10 KRT14
18 epidermolysis bullosa simplex, koebner type 10.2 KRT10 KRT14
19 female reproductive system disease 10.1 KRT10 KRT14
20 epicardium cancer 10.1 KRT10 KRT14
21 splenic flexure cancer 10.1 BMP2 BMP4
22 leptospirosis 10.1 KRT10 KRT14
23 bullous keratopathy 10.1 KRT10 KRT14
24 rare endometriosis 10.1 CTNNB1 KRT10
25 myotonia atrophica 10.1
26 myotonia 10.1
27 lacrimal gland mucoepidermoid carcinoma 10.1 KRT10 KRT14
28 maxillary neoplasm 10.0 CTNNB1 MUTYH
29 epidermolysis bullosa simplex, dowling-meara type 10.0 KRT10 KRT14
30 sclerosteosis 1 9.9 KRT10 KRT17
31 boylan dew greco syndrome 9.9 KRT10 KRT17
32 craniopharyngioma 9.9
33 middle ear squamous cell carcinoma 9.8 KRT14 KRT17
34 breast cancer 9.8
35 squamous cell carcinoma 9.8
36 basal cell carcinoma 9.8
37 adenocarcinoma 9.8
38 teratoma 9.8
39 palmoplantar keratoderma, nonepidermolytic, focal 9.7 KRT10 KRT17
40 ductal carcinoma in situ 9.7 KRT14 KRT17
41 turner syndrome 9.6
42 medulloblastoma 9.6
43 retinoblastoma 9.6
44 nasopharyngeal carcinoma 9.6
45 mature teratoma 9.6
46 hemangioma 9.6
47 corneal ulcer 9.6
48 familial adenomatous polyposis 9.6
49 myotonic dystrophy 9.6
50 ameloblastoma 9.6

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...

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Skin:
pilomatrixoma
superficial, firm, circumscribed nodule
usually occurs in the head and neck area
derived from hair matrix cells
histology shows exterior zone of densely packed, small basophilic cells
more

Clinical features from OMIM:

132600

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

32
id Description HPO Frequency HPO Source Accession
1 pilomatrixoma 32 HP:0030434

MGI Mouse Phenotypes related to Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.7 CTNNB1 HOXC13 KRT14 KRT17 OVOL2 BMP2
2 digestive/alimentary MP:0005381 9.5 BMP2 BMP4 CTNNB1 HOXC13 KRT14 KRT17
3 hearing/vestibular/ear MP:0005377 9.02 BMP2 BMP4 CTNNB1 KRT14 OVOL2

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

Search Clinical Trials , 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...

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

id Genetic test Affiliating Genes
1 Pilomatrixoma 29

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

MalaCards organs/tissues related to Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas:

39
Skin

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

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

UniProtKB/Swiss-Prot genetic disease variations for Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas:

71
id Symbol AA change Variation ID SNP ID
1 CTNNB1 p.Asp32Gly VAR_017615 rs121913396
2 CTNNB1 p.Asp32Tyr VAR_017616 rs28931588
3 CTNNB1 p.Ser33Phe VAR_017617 rs121913400
4 CTNNB1 p.Ser33Tyr VAR_017619 rs121913400
5 CTNNB1 p.Gly34Glu VAR_017620 rs28931589
6 CTNNB1 p.Ser37Cys VAR_017625 rs121913403
7 CTNNB1 p.Ser37Phe VAR_017626 rs121913403
8 CTNNB1 p.Thr41Ile VAR_017630 rs121913413

ClinVar genetic disease variations for Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas:

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1 MUTYH NM_001128425.1(MUTYH): c.1187G> A (p.Gly396Asp) single nucleotide variant Pathogenic/Likely pathogenic rs36053993 GRCh37 Chromosome 1, 45797228: 45797228
2 MUTYH MUTYH, 2-BP INS, 1186GG insertion Pathogenic
3 CTNNB1 NM_001904.3(CTNNB1): c.98C> A (p.Ser33Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913400 GRCh37 Chromosome 3, 41266101: 41266101
4 CTNNB1 NM_001904.3(CTNNB1): c.95A> G (p.Asp32Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913396 GRCh37 Chromosome 3, 41266098: 41266098
5 CTNNB1 NM_001904.3(CTNNB1): c.110C> G (p.Ser37Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 GRCh37 Chromosome 3, 41266113: 41266113
6 CTNNB1 NM_001904.3(CTNNB1): c.94G> T (p.Asp32Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs28931588 GRCh37 Chromosome 3, 41266097: 41266097
7 CTNNB1 NM_001904.3(CTNNB1): c.98C> T (p.Ser33Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913400 GRCh37 Chromosome 3, 41266101: 41266101
8 CTNNB1 NM_001904.3(CTNNB1): c.101G> A (p.Gly34Glu) single nucleotide variant Pathogenic/Likely pathogenic rs28931589 GRCh37 Chromosome 3, 41266104: 41266104
9 CTNNB1 NM_001904.3(CTNNB1): c.110C> T (p.Ser37Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 GRCh37 Chromosome 3, 41266113: 41266113
10 CTNNB1 NM_001904.3(CTNNB1): c.122C> T (p.Thr41Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121913413 GRCh37 Chromosome 3, 41266125: 41266125
11 MUTYH NM_001128425.1(MUTYH): c.933+3A> C single nucleotide variant Pathogenic rs587780751 GRCh37 Chromosome 1, 45797835: 45797835
12 CTNNB1 NM_001904.3(CTNNB1): c.100G> A (p.Gly34Arg) single nucleotide variant Likely pathogenic rs121913399 GRCh37 Chromosome 3, 41266103: 41266103
13 CTNNB1 NM_001904.3(CTNNB1): c.100G> C (p.Gly34Arg) single nucleotide variant Likely pathogenic rs121913399 GRCh37 Chromosome 3, 41266103: 41266103

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

9 (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
1 COSM5679 CTNNB1 skin,neck,adnexal tumour,pilomatricoma c.110C>G p.S37C 17
2 COSM5669 CTNNB1 skin,arm,adnexal tumour,pilomatricoma c.98C>T p.S33F 16
3 COSM5691 CTNNB1 skin,arm,adnexal tumour,pilomatricoma c.95A>T p.D32V 16
4 COSM5662 CTNNB1 skin,arm,adnexal tumour,pilomatricoma c.110C>T p.S37F 16
5 COSM17483 PTCH1 skin,neck,carcinoma,NS c.1729-1G>T p.? 6
6 COSM17468 PTCH1 skin,neck,carcinoma,NS c.584G>T p.R195M 6
7 COSM29053 PTCH1 skin,neck,carcinoma,NS c.833G>A p.W278* 6
8 COSM29072 PTCH1 skin,neck,carcinoma,NS c.1067+1G>A p.? 6
9 COSM14452 PTCH1 skin,neck,carcinoma,NS c.2321G>A p.G774E 6
10 COSM498 HRAS skin,neck,carcinoma,NS c.182A>T p.Q61L 6
11 COSM10812 TP53 skin,arm,carcinoma,NS c.722C>T p.S241F 5
12 COSM43582 TP53 skin,arm,carcinoma,NS c.454C>T p.P152S 5
13 COSM45074 TP53 skin,arm,carcinoma,NS c.829T>G p.C277G 5
14 COSM45774 TP53 skin,arm,carcinoma,NS c.899C>G p.P300R 5
15 COSM44225 TP53 skin,arm,carcinoma,NS c.859G>A p.E287K 5
16 COSM13146 SMO skin,arm,carcinoma,NS c.1604G>T p.W535L 5
17 COSM17548 PTCH1 skin,arm,carcinoma,NS c.3499G>T p.G1167W 5
18 COSM17456 PTCH1 skin,arm,carcinoma,NS c.1160G>A p.W387* 5
19 COSM17480 PTCH1 skin,arm,carcinoma,NS c.1847G>A p.S616N 5
20 COSM29052 PTCH1 skin,back,carcinoma,NS c.724C>T p.Q242* 5
21 COSM763 PIK3CA skin,back,carcinoma,NS c.1633G>A p.E545K 5
22 COSM516 KRAS skin,arm,carcinoma,NS c.34G>T p.G12C 5
23 COSM496 HRAS skin,arm,carcinoma,NS c.181C>A p.Q61K 5
24 COSM45765 TP53 skin,upper leg,carcinoma,NS c.987C>A p.T329T 4
25 COSM10863 TP53 skin,upper leg,carcinoma,NS c.833C>T p.P278L 4
26 COSM45114 TP53 skin,upper leg,carcinoma,NS c.702C>A p.Y234* 4
27 COSM10995 TP53 skin,upper leg,carcinoma,NS c.580C>T p.L194F 4
28 COSM44398 TP53 skin,upper leg,carcinoma,NS c.682G>A p.D228N 4
29 COSM1735722 RB1 skin,upper leg,carcinoma,NS c.298G>A p.G100R 4
30 COSM1735721 RB1 skin,upper leg,carcinoma,NS c.297G>A p.W99* 4
31 COSM14440 PTCH1 skin,upper leg,carcinoma,NS c.1093C>T p.Q365* 4
32 COSM29057 PTCH1 skin,upper leg,carcinoma,NS c.2713C>T p.Q905* 4
33 COSM17521 PTCH1 skin,upper leg,carcinoma,NS c.1993C>G p.R665G 4
34 COSM12475 CDKN2A skin,upper leg,carcinoma,NS c.238C>T p.R80* 4

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

Search GEO for disease gene expression data for Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas.

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

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

id Super pathways Score Top Affiliating Genes
1 11.73 BMP2 BMP4 CTNNB1
2
Show member pathways
11.71 KRT10 KRT14 KRT17 TCHH
3 11.69 BMP2 BMP4 CTNNB1
4 11.55 BMP2 BMP4 CTNNB1
5 10.8 BMP2 BMP4
6 10.66 BMP2 BMP4
7 10.46 BMP2 BMP4 CTNNB1
8 10.27 BMP2 CTNNB1

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

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

id Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 9.13 KRT10 KRT14 KRT17
2 cell periphery GO:0071944 8.8 CTNNB1 KRT14 KRT17

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

(show all 38)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 9.96 BMP2 BMP4 CTNNB1 OVOL2
2 negative regulation of cell proliferation GO:0008285 9.92 BMP2 BMP4 CTNNB1 OVOL2
3 negative regulation of gene expression GO:0010629 9.84 BMP2 BMP4 CTNNB1
4 skeletal system development GO:0001501 9.8 BMP2 BMP4 CTNNB1
5 heart development GO:0007507 9.8 BMP2 BMP4 CTNNB1 OVOL2
6 epidermis development GO:0008544 9.73 KRT14 KRT17 OVOL2
7 keratinization GO:0031424 9.71 KRT10 KRT14 KRT17 TCHH
8 epithelial to mesenchymal transition GO:0001837 9.68 BMP2 CTNNB1
9 cellular response to BMP stimulus GO:0071773 9.67 BMP2 BMP4
10 positive regulation of bone mineralization GO:0030501 9.67 BMP2 BMP4
11 cardiac muscle cell differentiation GO:0055007 9.65 BMP2 BMP4
12 embryonic hindlimb morphogenesis GO:0035116 9.65 BMP4 CTNNB1
13 telencephalon development GO:0021537 9.65 BMP2 BMP4
14 positive regulation of osteoblast differentiation GO:0045669 9.65 BMP2 BMP4 CTNNB1
15 hair follicle morphogenesis GO:0031069 9.64 CTNNB1 KRT17
16 vasculature development GO:0001944 9.64 BMP4 CTNNB1
17 renal system development GO:0072001 9.63 BMP4 CTNNB1
18 odontogenesis of dentin-containing tooth GO:0042475 9.63 BMP2 BMP4 CTNNB1
19 positive regulation of pri-miRNA transcription from RNA polymerase II promoter GO:1902895 9.62 BMP2 BMP4
20 negative regulation of chondrocyte differentiation GO:0032331 9.61 BMP4 CTNNB1
21 anterior/posterior axis specification GO:0009948 9.61 BMP4 CTNNB1
22 cellular response to growth factor stimulus GO:0071363 9.61 BMP2 BMP4 CTNNB1
23 positive regulation of cartilage development GO:0061036 9.6 BMP2 BMP4
24 epithelial tube branching involved in lung morphogenesis GO:0060441 9.59 BMP4 CTNNB1
25 positive regulation of ossification GO:0045778 9.58 BMP2 BMP4
26 positive regulation of endothelial cell differentiation GO:0045603 9.58 BMP4 CTNNB1
27 smooth muscle cell differentiation GO:0051145 9.57 BMP4 CTNNB1
28 regulation of smooth muscle cell proliferation GO:0048660 9.55 BMP4 CTNNB1
29 telencephalon regionalization GO:0021978 9.54 BMP2 BMP4
30 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.52 BMP2 BMP4
31 trachea formation GO:0060440 9.51 BMP4 CTNNB1
32 branching involved in ureteric bud morphogenesis GO:0001658 9.5 BMP2 BMP4 CTNNB1
33 positive regulation of epithelial to mesenchymal transition GO:0010718 9.37 BMP2 CTNNB1
34 mesenchymal cell proliferation involved in ureteric bud development GO:0072138 9.26 BMP2 BMP4
35 BMP signaling pathway involved in heart induction GO:0003130 9.16 BMP2 BMP4
36 positive regulation of branching involved in lung morphogenesis GO:0061047 8.96 BMP4 CTNNB1
37 cornification GO:0070268 8.92 KRT10 KRT14 KRT17 TCHH
38 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.06 BMP2 BMP4 CTNNB1 HOXC13 OVOL2

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

id Name GO ID Score Top Affiliating Genes
1 transition metal ion binding GO:0046914 9.16 S100A3 TCHH
2 co-receptor binding GO:0039706 8.96 BMP2 BMP4
3 BMP receptor binding GO:0070700 8.62 BMP2 BMP4

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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