PTR
MCID: PLM026
MIFTS: 59

Pilomatrixoma (PTR)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Pilomatrixoma

MalaCards integrated aliases for Pilomatrixoma:

Name: Pilomatrixoma 57 11 19 42 58 73 28 5 43 14 38 16 71 75
Pilomatricoma 57 11 19 42 58 53 75
Ptr 57 19 73
Epithelioma Calcificans of Malherbe 57 58
Calcifying Epithelioma of Malherbe 19 42
Benign Pilomatricoma 11 42
Malherbe Calcifying Epithelioma 42
Pilomatricoma, Somatic 57
Benign Pilomatrixoma 42

Characteristics:


Inheritance:

Somatic mutation 57

Age Of Onset:

Adolescent,Adult,Childhood 58

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 11 DOID:5374
OMIM® 57 132600
MeSH 43 D018296
NCIt 49 C7368
SNOMED-CT 68 274901004
MESH via Orphanet 44 D018296
ICD10 via Orphanet 32 D23.3 D23.4 D23.6
UMLS via Orphanet 72 C0206711
Orphanet 58 ORPHA91414
MedGen 40 C0206711
SNOMED-CT via HPO 69 44155009
UMLS 71 C0206711

Summaries for Pilomatrixoma

MedlinePlus Genetics: 42 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).Most pilomatricomas occur in people under the age of 20. However, these tumors can also appear later in life. Almost all pilomatricomas are benign, but a very small percentage are cancerous (malignant). Unlike the benign form, the malignant version of this tumor (known as a pilomatrix carcinoma) occurs most often in middle age or late in life.Pilomatricoma usually occurs without other signs or symptoms (isolated), but this type of tumor has also rarely been reported with inherited conditions. Disorders that can be associated with pilomatricoma include Gardner syndrome, which is characterized by multiple growths (polyps) and cancers of the colon and rectum; myotonic dystrophy, which is a form of muscular dystrophy; and Rubinstein-Taybi syndrome, which is a condition that affects many parts of the body and is associated with an increased risk of both benign and malignant tumors.

MalaCards based summary: Pilomatrixoma, also known as pilomatricoma, is related to epidermoid cysts and dermatofibrosarcoma protuberans. An important gene associated with Pilomatrixoma is CTNNB1 (Catenin Beta 1), and among its related pathways/superpathways are Nervous system development and Human Embryonic Stem Cell Pluripotency. Affiliated tissues include skin, colon and breast, and related phenotypes are pilomatrixoma and subcutaneous nodule

GARD: 19 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 symptoms (isolated). Rarely, Pilomatrixomas can become cancerous (known as a pilomatrix carcinoma). The exact underlying cause is not well understood; however, somatic changes 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.

Orphanet: 58 Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome (see these terms).

OMIM®: 57 Pilomatrixoma, also known as calcifying epithelioma of Malherbe, is a superficial benign skin tumor that arises from hair follicle matrix cells. The lesions occur most commonly in the first or second decades. They occur thoughout the body but most often in the head and neck region (review by Jones et al., 2018). (132600) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 Common benign skin tumor.

Wikipedia: 75 Pilomatricoma, is a benign skin tumor derived from the hair matrix. These neoplasms are relatively... more...

Related Diseases for Pilomatrixoma

Diseases related to Pilomatrixoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 243)
# Related Disease Score Top Affiliating Genes
1 epidermoid cysts 30.7 TCHH S100B S100A6 S100A3 S100A2
2 dermatofibrosarcoma protuberans 30.3 S100B MUC1 CD36
3 neurofibroma 30.2 YAP1 S100B MUC1
4 craniopharyngioma 30.2 LEF1 KRT14 CTNNB1 BMP2
5 alopecia 30.2 TCHH KRT15 KRT14 CTNNB1
6 epidermal appendage tumor 30.2 S100A2 KRT15
7 basal cell carcinoma 30.1 TCHH S100A2 MUC1 KRT15 KRT14 ENO2
8 keratoacanthoma 30.1 KRT15 KRT14 CTNNB1
9 skin pilomatrix carcinoma 30.1 LEF1 KRT31
10 neurilemmoma 30.1 S100B MUC1 ENO2
11 cutaneous fibrous histiocytoma 30.1 S100B PAGR1 ENO2
12 teratoma 30.0 MUC1 ENO2 CTNNB1
13 keratosis 30.0 TCHH KRT14 CTNNB1
14 adenoid cystic carcinoma 29.9 S100B MUC1 KRT14 CTNNB1
15 pleomorphic adenoma 29.9 S100B MUC1 KRT14 ENO2 CTNNB1 BMP2
16 hair follicle neoplasm 29.0 TCHH PAGR1 LGR6 LEF1 KRT31 KRT15
17 pilomatrix carcinoma 10.4
18 skin benign neoplasm 10.4
19 classic pulmonary blastoma 10.4 S100A3 CTNNB1
20 bile duct mucinous adenocarcinoma 10.4 MUC1 ENO2
21 goblet cell carcinoid 10.4 ENO2 CTNNB1
22 pineocytoma 10.3 S100B ENO2
23 gastric body carcinoma 10.3 MUTYH ENO2
24 tubular adenocarcinoma 10.3 MUC1 ENO2 CTNNB1
25 akinetic mutism 10.3 S100B ENO2
26 chondroblastoma 10.3 S100A2 ENO2 CTNNB1
27 follicular infundibulum tumor 10.3 TCHH KRT15
28 olfactory neuroblastoma 10.3 S100B MUC1 ENO2
29 papilloma of choroid plexus 10.3 S100B MUC1 ENO2
30 post-cardiac arrest syndrome 10.3 S100B ENO2
31 glomus tumor 10.3 S100B MUC1 ENO2
32 pilar sheath acanthoma 10.3 TCHH KRT15
33 anaplastic ependymoma 10.3 YAP1 S100B MUC1
34 myxopapillary ependymoma 10.3 YAP1 S100B MUC1
35 microcystic adenoma 10.3 MUC1 ENO2
36 trachea leiomyoma 10.3 S100A6 S100A2
37 small intestine cancer 10.3 MUTYH MUC1 CTNNB1
38 muscular dystrophy 10.3
39 myotonia 10.3
40 adenoid basal cell carcinoma 10.3 TCHH KRT15
41 pancreatoblastoma 10.3 ENO2 CTNNB1
42 conjunctival squamous cell carcinoma 10.3 S100A2 KRT15
43 eccrine porocarcinoma 10.3 YAP1 MUC1 KRT15
44 hemangioblastoma 10.3 S100B MUC1 ENO2
45 cardiomyopathy, familial restrictive, 3 10.3 BMP4 BMP2
46 basal cell carcinoma 1 10.2
47 neuroendocrine carcinoma 10.2 S100B MUC1 ENO2
48 breast benign neoplasm 10.2 MUC1 KRT14 CTNNB1
49 breast lobular carcinoma 10.2 MUC1 KRT14 CTNNB1
50 androgenic alopecia 10.2 LEF1 KRT15 CTNNB1

Graphical network of the top 20 diseases related to Pilomatrixoma:



Diseases related to Pilomatrixoma

Symptoms & Phenotypes for Pilomatrixoma

Human phenotypes related to Pilomatrixoma:

58 30 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pilomatrixoma 58 30 Obligate (100%)
HP:0030434
2 subcutaneous nodule 58 Very frequent (99-80%)
3 pruritus 58 Very rare (<4-1%)
4 ectopic calcification 58 Occasional (29-5%)
5 neoplasm of head and neck 58 Very frequent (99-80%)
6 anti-myeloperoxidase antibody positivity 58 Very rare (<4-1%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Pilomatrixoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.56 BMP2 BMP4 CD36 CTNNB1 KRT14 KRT15
2 integument MP:0010771 9.28 BMP4 CD36 CTNNB1 KRT14 KRT31 LEF1

Drugs & Therapeutics for Pilomatrixoma

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Use of Otoscope as a Non-Invasive Tool for Diagnosis of Pilomatricoma Unknown status NCT00715819
2 A Randomized Clinical Trial Comparing Tissue Adhesive (2-Octylcyanoacrylate) Vs. Absorbable Suture Vs. Non-Absorbable Suture for the Closure of Low Tension Facial and Neck Wounds in Children and Adolescents Unknown status NCT00292513

Search NIH Clinical Center for Pilomatrixoma

Cochrane evidence based reviews: pilomatrixoma

Genetic Tests for Pilomatrixoma

Genetic tests related to Pilomatrixoma:

# Genetic test Affiliating Genes
1 Pilomatrixoma 28 CTNNB1

Anatomical Context for Pilomatrixoma

Organs/tissues related to Pilomatrixoma:

MalaCards : Skin, Colon, Breast, Salivary Gland, Bone, Testis, Ovary

Publications for Pilomatrixoma

Articles related to Pilomatrixoma:

(show top 50) (show all 973)
# Title Authors PMID Year
1
A common human skin tumour is caused by activating mutations in beta-catenin. 53 57 5
10192393 1999
2
Pilomatrixoma: A Comprehensive Review of the Literature. 62 57
30119102 2018
3
beta-catenin expression in pilomatrixomas. Relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles. 62 57
11703283 2001
4
Myotonia atrophica and multiple calcifying epithelioma of Malherbe. 62 57
4162862 1965
5
Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study. 5
27829682 2017
6
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. 5
28152038 2017
7
Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA. 5
26556299 2016
8
Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 5
25820570 2015
9
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 5
25525159 2015
10
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 5
25157968 2014
11
Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. 5
24733792 2014
12
First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes. 5
21195604 2011
13
MutYH (MYH) and colorectal cancer. 5
16042573 2005
14
A kindred with MYH-associated polyposis and pilomatricomas. 57
15690400 2005
15
Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis. 5
15673720 2005
16
Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. 5
12606733 2003
17
APC mutations in sporadic medulloblastomas. 5
10666372 2000
18
Childhood hepatoblastomas frequently carry a mutated degradation targeting box of the beta-catenin gene. 5
9927029 1999
19
Pilomatrixomas in Rubinstein-Taybi syndrome. 57
9557902 1998
20
Beta-catenin mutations in cell lines established from human colorectal cancers. 5
9294210 1997
21
Activation of beta-catenin-Tcf signaling in colon cancer by mutations in beta-catenin or APC. 5
9065402 1997
22
Familial multiple pilomatrixomas. 57
1390157 1992
23
[The familial form of epithelioma (calcifying) of Malherbe]. 57
13704223 1960
24
Mutations in exon 3 of the CTNNB1 gene (beta-catenin gene) in cutaneous adnexal tumors. 53 62
19384065 2009
25
Multiple pilomatricomas: cutaneous marker for myotonic dystrophy. 53 62
18718206 2008
26
beta-Catenin mutation and its nuclear localization are confirmed to be frequent causes of Wnt signaling pathway activation in pilomatricomas. 53 62
16378715 2006
27
Expression patterns of hair and epithelial keratins and transcription factors HOXC13, LEF1, and beta-catenin in a malignant pilomatricoma: a histological and immunohistochemical study. 53 62
16441405 2006
28
[Principal features of multiple pilomatricoma and its association with beta-catenin mutation]. 53 62
15927129 2005
29
Bone morphogenetic protein-mediated type II collagen expression in pilomatricoma and cutaneous mixed tumor. 53 62
15701082 2005
30
Type II collagen accumulation in overlying dermo-epidermal junction of pilomatricoma is mediated by bone morphogenetic protein 2 and 4. 53 62
15102076 2004
31
beta-Catenin is expressed aberrantly in tumors expressing shadow cells. Pilomatricoma, craniopharyngioma, and calcifying odontogenic cyst. 53 62
14608900 2003
32
Low frequency of beta-catenin gene mutations in pilomatricoma. 53 62
12575848 2002
33
Nuclear localization of beta-catenin in the hair matrix cells and differentiated keratinocytes. 53 62
11641056 2001
34
beta-Catenin expression in the transitional cell zone of pilomatricoma. 53 62
11703290 2001
35
beta-Catenin gene mutation in human hair follicle-related tumors. 53 62
11472567 2001
36
Immunohistochemical expression of bone morphogenetic protein-2 in pilomatricoma. 53 62
11069452 2000
37
Expression of trichohyalin in dermatological disorders: a comparative study with involucrin and filaggrin by immunohistochemical staining. 53 62
10228630 1999
38
Trichohyalin expression in skin tumors: retrieval of trichohyalin antigenicity in tissues by microwave irradiation. 53 62
8734653 1996
39
Bullous pilomatricoma arising at a COVID-19 vaccination site. 62
36318996 2022
40
Anetodermic pilomatricoma: A clinical, histopathological and dermoscopic perspective. 62
36151952 2022
41
Bullous Pilomatrixoma: Without a "Shadow" of Doubt - Role of ROSE and Cytology. 62
36386744 2022
42
Giant pilomatrixoma with bullous appearance on the back: A case report and discussion of misdiagnosis. 62
35332644 2022
43
Cranial pilomatricoma: a diagnosis to consider. 62
36282306 2022
44
Benign Pilomatricoma With Osseous Metaplasia: A Rare Case. 62
36311481 2022
45
Surgical experiences in pediatric pilomatricoma: punch incision and elliptical excision. 62
36214494 2022
46
Pseudobullous pilomatricoma: A rare variant of pilomatricoma. 62
36092264 2022
47
A newly growing asymptomatic facial lesion. 62
35707898 2022
48
Recurrent giant back proliferating pilomatricoma leading to significant patient morbidity - a case report. 62
34348415 2022
49
Pilomatricoma with florid ossification: A rare feature in a common tumor. 62
35900520 2022
50
Melanocytic matricoma: A report of three cases, review of the literature, and suggestion of a new terminology. 62
35195926 2022

Variations for Pilomatrixoma

ClinVar genetic disease variations for Pilomatrixoma:

5 (show all 27)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CTNNB1 NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) SNV Pathogenic
17577 rs121913400 GRCh37: 3:41266101-41266101
GRCh38: 3:41224610-41224610
2 CTNNB1 NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly) SNV Pathogenic
17578 rs121913396 GRCh37: 3:41266098-41266098
GRCh38: 3:41224607-41224607
3 CTNNB1 NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe) SNV Pathogenic
17583 rs121913400 GRCh37: 3:41266101-41266101
GRCh38: 3:41224610-41224610
4 CTNNB1 NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr) SNV Pathogenic
17581 rs28931588 GRCh37: 3:41266097-41266097
GRCh38: 3:41224606-41224606
5 CTNNB1 NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter) SNV Pathogenic
265443 rs775104326 GRCh37: 3:41266486-41266486
GRCh38: 3:41224995-41224995
6 CTNNB1 NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) SNV Pathogenic
17584 rs28931589 GRCh37: 3:41266104-41266104
GRCh38: 3:41224613-41224613
7 CTNNB1 NM_001904.4(CTNNB1):c.110C>T (p.Ser37Phe) SNV Pathogenic
17586 rs121913403 GRCh37: 3:41266113-41266113
GRCh38: 3:41224622-41224622
8 CTNNB1 NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) SNV Pathogenic
17587 rs121913413 GRCh37: 3:41266125-41266125
GRCh38: 3:41224634-41224634
9 CTNNB1 NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys) SNV Pathogenic
17579 rs121913403 GRCh37: 3:41266113-41266113
GRCh38: 3:41224622-41224622
10 MUTYH NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) SNV Pathogenic
140877 rs140342925 GRCh37: 1:45798117-45798117
GRCh38: 1:45332445-45332445
11 MUTYH NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) SNV Pathogenic
5294 rs36053993 GRCh37: 1:45797228-45797228
GRCh38: 1:45331556-45331556
12 MUTYH NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) SNV Pathogenic
5293 rs34612342 GRCh37: 1:45798475-45798475
GRCh38: 1:45332803-45332803
13 MUTYH NM_001048174.2(MUTYH):c.1103-2A>G SNV Pathogenic
141282 rs587781628 GRCh37: 1:45797230-45797230
GRCh38: 1:45331558-45331558
14 MUTYH NM_001048174.2(MUTYH):c.305-1G>C SNV Pathogenic
234229 rs372267274 GRCh37: 1:45798843-45798843
GRCh38: 1:45333171-45333171
15 MUTYH NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter) SNV Pathogenic
127845 rs587780088 GRCh37: 1:45800165-45800165
GRCh38: 1:45334493-45334493
16 CTNNB1 NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg) SNV Likely Pathogenic
376233 rs121913399 GRCh37: 3:41266103-41266103
GRCh38: 3:41224612-41224612
17 MUTYH NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) SNV Likely Pathogenic
135990 rs587780749 GRCh37: 1:45798115-45798115
GRCh38: 1:45332443-45332443
18 MUTYH NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) SNV Likely Pathogenic
187280 rs747993448 GRCh37: 1:45798467-45798467
GRCh38: 1:45332795-45332795
19 CTNNB1 NM_001904.4(CTNNB1):c.100G>A (p.Gly34Arg) SNV Likely Pathogenic
376232 rs121913399 GRCh37: 3:41266103-41266103
GRCh38: 3:41224612-41224612
20 MUTYH NM_001048174.2(MUTYH):c.263G>A (p.Arg88Gln) SNV Uncertain Significance
142736 rs587782683 GRCh37: 1:45799086-45799086
GRCh38: 1:45333414-45333414
21 MUTYH NM_001048174.2(MUTYH):c.1409A>G (p.Gln470Arg) SNV Uncertain Significance
127840 rs587780085 GRCh37: 1:45796213-45796213
GRCh38: 1:45330541-45330541
22 MUTYH NM_001048174.2(MUTYH):c.916C>G (p.Pro306Ala) SNV Uncertain Significance
183823 rs587778537 GRCh37: 1:45797519-45797519
GRCh38: 1:45331847-45331847
23 MUTYH NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys) SNV Uncertain Significance
182694 rs149342980 GRCh37: 1:45797839-45797839
GRCh38: 1:45332167-45332167
24 MUTYH NM_001048174.2(MUTYH):c.488G>A (p.Arg163Gln) SNV Uncertain Significance
127846 rs369677603 GRCh37: 1:45798439-45798439
GRCh38: 1:45332767-45332767
25 MUTYH NM_001048174.2(MUTYH):c.1336C>T (p.Arg446Cys) SNV Uncertain Significance
41754 rs200229669 GRCh37: 1:45796910-45796910
GRCh38: 1:45331238-45331238
26 MUTYH NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr) SNV Uncertain Significance
135983 rs587780744 GRCh37: 1:45797160-45797160
GRCh38: 1:45331488-45331488
27 MUTYH NM_001048174.2(MUTYH):c.901G>A (p.Val301Met) SNV Uncertain Significance
134859 rs147718169 GRCh37: 1:45797707-45797707
GRCh38: 1:45332035-45332035

UniProtKB/Swiss-Prot genetic disease variations for Pilomatrixoma:

73
# 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

Cosmic variations for Pilomatrixoma:

8 (show top 50) (show all 3143)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM143943797 TP53 skin,neck,carcinoma,NS c.266G>A p.R89Q 17:7674220-7674220 12
2 COSM142560281 TP53 skin,neck,carcinoma,NS c.626G>A p.R209Q 17:7674220-7674220 12
3 COSM144087106 TP53 skin,neck,carcinoma,NS c.266G>A p.R89Q 17:7674220-7674220 12
4 COSM144310203 TP53 skin,neck,carcinoma,NS c.626G>A p.R209Q 17:7674220-7674220 12
5 COSM142837352 TP53 skin,neck,carcinoma,NS c.743G>A p.R248Q 17:7674220-7674220 12
6 COSM145017657 TP53 skin,neck,carcinoma,NS c.626G>A p.R209Q 17:7674220-7674220 12
7 COSM143370869 TP53 skin,neck,carcinoma,NS c.626G>A p.R209Q 17:7674220-7674220 12
8 COSM133256111 TGFBR1 skin,neck,carcinoma,NS c.1040C>T p.S347F 9:99146601-99146601 12
9 COSM97906895 TGFBR1 skin,neck,carcinoma,NS c.1016C>T p.S339F 9:99146601-99146601 12
10 COSM135128838 TGFBR1 skin,neck,carcinoma,NS c.1259C>T p.S420F 9:99146601-99146601 12
11 COSM97922732 TGFBR1 skin,neck,carcinoma,NS c.1247C>T p.S416F 9:99146601-99146601 12
12 COSM84678061 SMO skin,neck,carcinoma,NS c.1103C>T p.P368L 7:129206332-129206332 12
13 COSM98728167 RARA skin,neck,carcinoma,NS c.1384C>T p.P462S 17:40356221-40356221 12
14 COSM107058787 RARA skin,neck,carcinoma,NS c.1093C>T p.P365S 17:40356221-40356221 12
15 COSM98724263 RARA skin,neck,carcinoma,NS c.1432C>T p.P478S 17:40356221-40356221 12
16 COSM86828717 RARA skin,neck,carcinoma,NS c.1384C>T p.P462S 17:40356221-40356221 12
17 COSM98707797 RARA skin,neck,carcinoma,NS c.1369C>T p.P457S 17:40356221-40356221 12
18 COSM94496058 RAD52 skin,neck,carcinoma,NS c.439G>A p.V147M 12:927173-927173 12
19 COSM133940534 RAD52 skin,neck,carcinoma,NS c.439G>A p.V147M 12:927173-927173 12
20 COSM107373333 RAD52 skin,neck,carcinoma,NS c.439G>A p.V147M 12:927173-927173 12
21 COSM130526023 RAD52 skin,neck,carcinoma,NS c.439G>A p.V147M 12:927173-927173 12
22 COSM96948694 PTPRT skin,neck,carcinoma,NS c.1619G>A p.G540E 20:42352227-42352227 12
23 COSM97161923 PTPRT skin,neck,carcinoma,NS c.1619G>A p.G540E 20:42352227-42352227 12
24 COSM96619514 PTPRT skin,neck,carcinoma,NS c.1619G>A p.G540E 20:42352227-42352227 12
25 COSM97161935 PTPRT skin,neck,carcinoma,NS c.1607C>T p.S536L 20:42352239-42352239 12
26 COSM144156675 PTPRT skin,neck,carcinoma,NS c.473G>A p.G158E 20:42352227-42352227 12
27 COSM96619533 PTPRT skin,neck,carcinoma,NS c.1607C>T p.S536L 20:42352239-42352239 12
28 COSM93273665 PTPRT skin,neck,carcinoma,NS c.1607C>T p.S536L 20:42352239-42352239 12
29 COSM96721565 PTPRT skin,neck,carcinoma,NS c.1619G>A p.G540E 20:42352227-42352227 12
30 COSM96835332 PTPRT skin,neck,carcinoma,NS c.1619G>A p.G540E 20:42352227-42352227 12
31 COSM142597931 PTPRT skin,neck,carcinoma,NS c.454C>T p.S152L 20:42352239-42352239 12
32 COSM144156682 PTPRT skin,neck,carcinoma,NS c.461C>T p.S154L 20:42352239-42352239 12
33 COSM97061657 PTPRT skin,neck,carcinoma,NS c.1619G>A p.G540E 20:42352227-42352227 12
34 COSM96835350 PTPRT skin,neck,carcinoma,NS c.1607C>T p.S536L 20:42352239-42352239 12
35 COSM96721578 PTPRT skin,neck,carcinoma,NS c.1607C>T p.S536L 20:42352239-42352239 12
36 COSM96948708 PTPRT skin,neck,carcinoma,NS c.1607C>T p.S536L 20:42352239-42352239 12
37 COSM93273656 PTPRT skin,neck,carcinoma,NS c.1619G>A p.G540E 20:42352227-42352227 12
38 COSM97061670 PTPRT skin,neck,carcinoma,NS c.1607C>T p.S536L 20:42352239-42352239 12
39 COSM142597920 PTPRT skin,neck,carcinoma,NS c.466G>A p.G156E 20:42352227-42352227 12
40 COSM101904169 PTPRD skin,neck,carcinoma,NS c.1261C>T p.P421S 9:8518130-8518130 12
41 COSM92948518 PTPRD skin,neck,carcinoma,NS c.5048C>T p.S1683F 9:8341168-8341168 12
42 COSM132595830 PTPRD skin,neck,carcinoma,NS c.1243C>T p.P415S 9:8518130-8518130 12
43 COSM132601883 PTPRD skin,neck,carcinoma,NS c.1718G>A p.S573N 9:8504347-8504347 12
44 COSM132313437 PTPRD skin,neck,carcinoma,NS c.1261C>T p.P421S 9:8518130-8518130 12
45 COSM102248340 PTPRD skin,neck,carcinoma,NS c.1706G>A p.S569N 9:8504347-8504347 12
46 COSM102241575 PTPRD skin,neck,carcinoma,NS c.1231C>T p.P411S 9:8518130-8518130 12
47 COSM92952483 PTPRD skin,neck,carcinoma,NS c.1736G>A p.S579N 9:8504347-8504347 12
48 COSM102146055 PTPRD skin,neck,carcinoma,NS c.3818C>T p.S1273F 9:8341168-8341168 12
49 COSM117943076 PTPRD skin,neck,carcinoma,NS c.1736G>A p.S579N 9:8504347-8504347 12
50 COSM102142838 PTPRD skin,neck,carcinoma,NS c.1252C>T p.P418S 9:8518130-8518130 12

Expression for Pilomatrixoma

Search GEO for disease gene expression data for Pilomatrixoma.

Pathways for Pilomatrixoma

GO Terms for Pilomatrixoma

Cellular components related to Pilomatrixoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 9.17 KRT81 KRT31 KRT15 KRT14

Biological processes related to Pilomatrixoma according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10.36 BMP2 BMP4 CD36 CTNNB1 LEF1 YAP1
2 positive regulation of cell population proliferation GO:0008284 10.32 YAP1 S100B LEF1 CTNNB1 BMP4 BMP2
3 negative regulation of gene expression GO:0010629 10.27 YAP1 CTNNB1 CD36 BMP4 BMP2
4 positive regulation of MAPK cascade GO:0043410 10.18 CTNNB1 CD36 BMP4 BMP2
5 chondrocyte differentiation GO:0002062 10.1 CTNNB1 BMP4 BMP2
6 epithelial to mesenchymal transition GO:0001837 10.07 LEF1 CTNNB1 BMP2
7 osteoblast differentiation GO:0001649 10.04 LEF1 CTNNB1 BMP4 BMP2
8 branching involved in ureteric bud morphogenesis GO:0001658 10.02 BMP2 BMP4 CTNNB1
9 regulation of neurogenesis GO:0050767 10.01 YAP1 LEF1 CTNNB1
10 positive regulation of Wnt signaling pathway GO:0030177 9.99 LGR6 LEF1 BMP2
11 lung epithelial cell differentiation GO:0060487 9.94 YAP1 CTNNB1
12 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.92 BMP2 BMP4
13 positive regulation of osteoblast differentiation GO:0045669 9.92 YAP1 CTNNB1 BMP4 BMP2
14 trachea formation GO:0060440 9.91 BMP4 CTNNB1
15 bud elongation involved in lung branching GO:0060449 9.91 BMP4 YAP1
16 BMP signaling pathway involved in heart development GO:0061312 9.9 BMP2 BMP4
17 telencephalon regionalization GO:0021978 9.88 BMP4 BMP2
18 negative regulation of striated muscle tissue development GO:0045843 9.86 LEF1 BMP4
19 odontogenesis of dentin-containing tooth GO:0042475 9.86 LEF1 CTNNB1 BMP4 BMP2
20 ameloblast differentiation GO:0036305 9.83 BMP4 BMP2
21 glandular epithelial cell differentiation GO:0002067 9.82 YAP1 CTNNB1
22 mesenchymal cell proliferation involved in ureteric bud development GO:0072138 9.76 BMP4 BMP2
23 positive regulation of epithelial to mesenchymal transition GO:0010718 9.76 BMP2 BMP4 CTNNB1 LEF1
24 BMP signaling pathway involved in heart induction GO:0003130 9.71 BMP2 BMP4
25 positive regulation of branching involved in lung morphogenesis GO:0061047 9.67 BMP4 CTNNB1
26 cardiac jelly development GO:1905072 9.65 BMP4 BMP2
27 vasculature development GO:0001944 9.61 LEF1 CTNNB1 BMP4
28 intermediate filament organization GO:0045109 9.32 TCHH KRT81 KRT31 KRT15 KRT14
29 positive regulation of epithelial cell differentiation GO:0030858 9.26 CTNNB1 BMP4 BMP2

Molecular functions related to Pilomatrixoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear estrogen receptor binding GO:0030331 9.63 PAGR1 LEF1 CTNNB1
2 calcium-dependent protein binding GO:0048306 9.56 S100B S100A6 S100A3 S100A2
3 transition metal ion binding GO:0046914 9.02 TCHH S100A3 S100A2

Sources for Pilomatrixoma

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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