PTR
MCID: CLR065
MIFTS: 45

Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas (PTR) malady

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

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

Aliases & Descriptions for Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas:

Name: Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas 54 13
Pilomatrixoma 54 12 50 25 56 66 29 42 14 69
Pilomatricoma 12 50 25 56 52
Calcifying Epithelioma of Malherbe 50 25
Benign Pilomatricoma 12 25
Ptr 50 66
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;

HPO:

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


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 squamous cell carcinoma 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 Developmental Biology and Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways. Affiliated tissues include skin, and related phenotypes are craniofacial and growth/size/body region

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 : 66 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 squamous cell carcinoma 29.3 KRT1 KRT10 KRT14
2 skin pilomatrix carcinoma 11.5
3 lung adenoma 10.3 CTNNB1 HOXC13
4 juvenile onset parkinson disease 19a 10.2 BMP2 BMP4
5 tarsal-carpal coalition syndrome 10.2 BMP2 BMP4
6 multiple synostoses syndrome 10.2 BMP2 BMP4
7 salt and pepper syndrome 10.2 BMP2 BMP4
8 t cell immunodeficiency primary 10.1 BMP2 BMP4
9 adult botryoid rhabdomyosarcoma 10.1 KRT14 KRT17
10 myotonia atrophica 10.1
11 myotonia 10.1
12 dowling-degos disease 1 10.1 KRT10 KRT14
13 basaloid squamous cell carcinoma 10.1 KRT10 KRT14
14 craniodiaphyseal dysplasia, autosomal dominant 10.0 KRT10 KRT17
15 female reproductive system disease 10.0 KRT10 KRT14
16 brachydactyly small stature face anomalies 10.0 KRT10 KRT17
17 acth-independent macronodular adrenal hyperplasia 10.0 BMP2 BMP4
18 chronic mountain sickness 10.0 KRT1 KRT17
19 white sponge nevus 1 10.0 KRT1 KRT17
20 secondary corneal edema 10.0 KRT10 KRT14
21 bradyopsia 10.0 KRT1 KRT10
22 orchitis 10.0 CTNNB1 KRT10 KRT17
23 erdheim-chester disease 10.0 KRT1 KRT10
24 palmoplantar keratoderma, nonepidermolytic 9.9 KRT1 KRT10
25 episodic angioedema with eosinophilia 9.9 KRT1 KRT10
26 leptospirosis 9.9 KRT10 KRT14
27 thymus squamous cell carcinoma 9.9 KRT14 KRT17
28 ciliary dyskinesia, primary, 1, with or without situs inversus 9.9 KRT1 KRT10
29 subglottis verrucous carcinoma 9.9 KRT1 KRT10
30 dermatitis, atopic 2 9.9 KRT1 KRT14
31 ebola hemorrhagic fever 9.9 KRT10 KRT14 KRT17
32 anal margin basal cell carcinoma 9.9 KRT10 KRT14 KRT17
33 distal arthrogryposis 9.9 KRT10 KRT14 KRT17
34 keratosis palmoplantaris striata iii 9.9 KRT1 KRT10
35 thymus mucoepidermoid carcinoma 9.9 KRT1 KRT10
36 craniopharyngioma 9.9
37 adenocarcinoma 9.8
38 teratoma 9.8
39 breast cancer 9.8
40 basal cell carcinoma 9.8
41 scott syndrome 9.8 KRT1 KRT10 KRT14
42 epidermolysis bullosa simplex-mp 9.8 KRT1 KRT10 KRT14
43 autonomic nervous system neoplasm 9.8 KRT1 KRT10 KRT14
44 solitary bone cyst 9.7 KRT1 KRT10 KRT14
45 dermoid cyst 9.6
46 histiocytosis 9.6
47 turner syndrome 9.6
48 bilateral retinoblastoma 9.6
49 retinoblastoma 9.6
50 rubinstein-taybi syndrome 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 by clinical synopsis from OMIM:

132600

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 9.95 BMP4 CTNNB1 HOXC13 KRT14 KRT17 OVOL2
2 growth/size/body region MP:0005378 9.92 BMP2 BMP4 CTNNB1 HOXC13 KRT1 KRT14
3 digestive/alimentary MP:0005381 9.91 BMP2 BMP4 CTNNB1 HOXC13 KRT14 KRT17
4 hearing/vestibular/ear MP:0005377 9.65 BMP2 BMP4 CTNNB1 KRT14 OVOL2
5 integument MP:0010771 9.63 BMP4 CTNNB1 HOXC13 KRT1 KRT14 KRT17
6 mortality/aging MP:0010768 9.61 BMP2 BMP4 CTNNB1 HOXC13 KRT1 KRT14
7 pigmentation MP:0001186 8.92 KRT1 KRT14 KRT17 CTNNB1

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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Use of Otoscope as a Non-Invasive Tool for Diagnosis of Pilomatricoma Unknown status NCT00715819
2 Clinical Trial Comparing Tissue Adhesive Vs. Absorbable Suture Vs. Non-Absorbable Suture Unknown status NCT00292513

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...

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:

66
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 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 MUTYH MUTYH, 2-BP INS, 1186GG insertion Pathogenic
2 CTNNB1 NM_001904.3(CTNNB1): c.98C> A (p.Ser33Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913400 GRCh37 Chromosome 3, 41266101: 41266101
3 CTNNB1 NM_001904.3(CTNNB1): c.95A> G (p.Asp32Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913396 GRCh37 Chromosome 3, 41266098: 41266098
4 CTNNB1 NM_001904.3(CTNNB1): c.110C> G (p.Ser37Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 GRCh37 Chromosome 3, 41266113: 41266113
5 CTNNB1 NM_001904.3(CTNNB1): c.94G> T (p.Asp32Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs28931588 GRCh37 Chromosome 3, 41266097: 41266097
6 CTNNB1 NM_001904.3(CTNNB1): c.98C> T (p.Ser33Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913400 GRCh37 Chromosome 3, 41266101: 41266101
7 CTNNB1 NM_001904.3(CTNNB1): c.101G> A (p.Gly34Glu) single nucleotide variant Pathogenic/Likely pathogenic rs28931589 GRCh37 Chromosome 3, 41266104: 41266104
8 CTNNB1 NM_001904.3(CTNNB1): c.110C> T (p.Ser37Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 GRCh37 Chromosome 3, 41266113: 41266113
9 CTNNB1 NM_001904.3(CTNNB1): c.122C> T (p.Thr41Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121913413 GRCh37 Chromosome 3, 41266125: 41266125
10 MUTYH NM_001128425.1(MUTYH): c.933+3A> C single nucleotide variant Pathogenic rs587780751 GRCh37 Chromosome 1, 45797835: 45797835
11 CTNNB1 NM_001904.3(CTNNB1): c.100G> A (p.Gly34Arg) single nucleotide variant Likely pathogenic rs121913399 GRCh37 Chromosome 3, 41266103: 41266103
12 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,neck,adnexal tumour,pilomatricoma c.98C>T p.S33F 17
3 COSM5662 CTNNB1 skin,arm,adnexal tumour,pilomatricoma c.110C>T p.S37F 16
4 COSM5691 CTNNB1 skin,arm,adnexal tumour,pilomatricoma c.95A>T p.D32V 16
5 COSM14452 PTCH1 skin,neck,carcinoma,NS c.2321G>A p.G774E 6
6 COSM29072 PTCH1 skin,neck,carcinoma,NS c.1067+1G>A p.? 6
7 COSM29053 PTCH1 skin,neck,carcinoma,NS c.833G>A p.W278* 6
8 COSM17483 PTCH1 skin,neck,carcinoma,NS c.1729-1G>T p.? 6
9 COSM17468 PTCH1 skin,neck,carcinoma,NS c.584G>T p.R195M 6
10 COSM45774 TP53 skin,arm,carcinoma,NS c.899C>G p.P300R 5
11 COSM10995 TP53 skin,leg,carcinoma,NS c.580C>T p.L194F 5
12 COSM44398 TP53 skin,leg,carcinoma,NS c.682G>A p.D228N 5
13 COSM45765 TP53 skin,leg,carcinoma,NS c.987C>A p.T329T 5
14 COSM45114 TP53 skin,leg,carcinoma,NS c.702C>A p.Y234* 5
15 COSM10812 TP53 skin,arm,carcinoma,NS c.722C>T p.S241F 5
16 COSM45074 TP53 skin,arm,carcinoma,NS c.829T>G p.C277G 5
17 COSM43582 TP53 skin,arm,carcinoma,NS c.454C>T p.P152S 5
18 COSM10863 TP53 skin,leg,carcinoma,NS c.833C>T p.P278L 5
19 COSM44225 TP53 skin,arm,carcinoma,NS c.859G>A p.E287K 5
20 COSM13146 SMO skin,arm,carcinoma,NS c.1604G>T p.W535L 5
21 COSM1735721 RB1 skin,leg,carcinoma,NS c.297G>A p.W99* 5
22 COSM1735722 RB1 skin,leg,carcinoma,NS c.298G>A p.G100R 5
23 COSM17548 PTCH1 skin,arm,carcinoma,NS c.3499G>T p.G1167W 5
24 COSM14440 PTCH1 skin,arm,carcinoma,NS c.1093C>T p.Q365* 5
25 COSM17456 PTCH1 skin,arm,carcinoma,NS c.1160G>A p.W387* 5
26 COSM17521 PTCH1 skin,leg,carcinoma,NS c.1993C>G p.R665G 5
27 COSM17480 PTCH1 skin,arm,carcinoma,NS c.1847G>A p.S616N 5
28 COSM29057 PTCH1 skin,leg,carcinoma,NS c.2713C>T p.Q905* 5
29 COSM29052 PTCH1 skin,back,carcinoma,NS c.724C>T p.Q242* 5
30 COSM763 PIK3CA skin,back,carcinoma,NS c.1633G>A p.E545K 5
31 COSM516 KRAS skin,arm,carcinoma,NS c.34G>T p.G12C 5
32 COSM498 HRAS skin,leg,carcinoma,NS c.182A>T p.Q61L 5
33 COSM496 HRAS skin,arm,carcinoma,NS c.181C>A p.Q61K 5
34 COSM12475 CDKN2A skin,leg,carcinoma,NS c.238C>T p.R80* 5

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...

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 cornified envelope GO:0001533 9.33 KRT1 KRT10 TCHH
2 cell periphery GO:0071944 9.13 CTNNB1 KRT14 KRT17
3 intermediate filament GO:0005882 8.92 KRT1 KRT10 KRT14 KRT17

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

(show all 44)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.98 BMP2 BMP4 CTNNB1 OVOL2
2 negative regulation of transcription, DNA-templated GO:0045892 9.96 BMP2 BMP4 CTNNB1 OVOL2
3 negative regulation of cell proliferation GO:0008285 9.91 BMP2 BMP4 CTNNB1 OVOL2
4 negative regulation of gene expression GO:0010629 9.83 BMP2 BMP4 CTNNB1
5 skeletal system development GO:0001501 9.8 BMP2 BMP4 CTNNB1
6 heart development GO:0007507 9.78 BMP2 BMP4 CTNNB1 OVOL2
7 epidermis development GO:0008544 9.74 KRT14 KRT17 OVOL2
8 chondrocyte differentiation GO:0002062 9.69 BMP2 BMP4
9 negative regulation of cell cycle GO:0045786 9.69 BMP2 BMP4
10 epithelial to mesenchymal transition GO:0001837 9.69 BMP2 CTNNB1
11 positive regulation of epithelial to mesenchymal transition GO:0010718 9.68 BMP2 CTNNB1
12 cellular response to BMP stimulus GO:0071773 9.68 BMP2 BMP4
13 positive regulation of bone mineralization GO:0030501 9.68 BMP2 BMP4
14 regulation of angiogenesis GO:0045765 9.67 CTNNB1 KRT1
15 cardiac muscle cell differentiation GO:0055007 9.67 BMP2 BMP4
16 embryonic hindlimb morphogenesis GO:0035116 9.67 BMP4 CTNNB1
17 telencephalon development GO:0021537 9.66 BMP2 BMP4
18 hair follicle morphogenesis GO:0031069 9.65 CTNNB1 KRT17
19 renal system development GO:0072001 9.64 BMP4 CTNNB1
20 vasculature development GO:0001944 9.64 BMP4 CTNNB1
21 positive regulation of pri-miRNA transcription from RNA polymerase II promoter GO:1902895 9.63 BMP2 BMP4
22 odontogenesis of dentin-containing tooth GO:0042475 9.63 BMP2 BMP4 CTNNB1
23 negative regulation of chondrocyte differentiation GO:0032331 9.62 BMP4 CTNNB1
24 anterior/posterior axis specification GO:0009948 9.62 BMP4 CTNNB1
25 intermediate filament organization GO:0045109 9.61 KRT17 TCHH
26 cellular response to growth factor stimulus GO:0071363 9.61 BMP2 BMP4 CTNNB1
27 epithelial tube branching involved in lung morphogenesis GO:0060441 9.6 BMP4 CTNNB1
28 positive regulation of cartilage development GO:0061036 9.59 BMP2 BMP4
29 positive regulation of ossification GO:0045778 9.58 BMP2 BMP4
30 smooth muscle cell differentiation GO:0051145 9.58 BMP4 CTNNB1
31 positive regulation of osteoblast differentiation GO:0045669 9.58 BMP2 BMP4 CTNNB1
32 positive regulation of endothelial cell differentiation GO:0045603 9.56 BMP4 CTNNB1
33 regulation of smooth muscle cell proliferation GO:0048660 9.55 BMP4 CTNNB1
34 skin epidermis development GO:0098773 9.54 KRT1 KRT10
35 branching involved in ureteric bud morphogenesis GO:0001658 9.54 BMP2 BMP4 CTNNB1
36 telencephalon regionalization GO:0021978 9.52 BMP2 BMP4
37 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.51 BMP2 BMP4
38 trachea formation GO:0060440 9.49 BMP4 CTNNB1
39 keratinization GO:0031424 9.35 KRT1 KRT10 KRT14 KRT17 TCHH
40 mesenchymal cell proliferation involved in ureteric bud development GO:0072138 9.32 BMP2 BMP4
41 BMP signaling pathway involved in heart induction GO:0003130 9.26 BMP2 BMP4
42 positive regulation of branching involved in lung morphogenesis GO:0061047 9.16 BMP4 CTNNB1
43 cornification GO:0070268 9.02 KRT1 KRT10 KRT14 KRT17 TCHH
44 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.04 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 structural constituent of epidermis GO:0030280 9.16 KRT1 KRT10
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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