PTR
MCID: PLM026
MIFTS: 57

Pilomatrixoma (PTR)

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

Aliases & Classifications for Pilomatrixoma

MalaCards integrated aliases for Pilomatrixoma:

Name: Pilomatrixoma 57 12 20 43 58 72 29 6 44 15 39 17 70
Pilomatricoma 57 12 20 43 58 36 54
Ptr 57 20 72
Epithelioma Calcificans of Malherbe 57 58
Calcifying Epithelioma of Malherbe 20 43
Benign Pilomatricoma 12 43
Malherbe Calcifying Epithelioma 43
Pilomatricoma, Somatic 57
Benign Pilomatrixoma 43
Pilomatricoma; Ptr 57

Characteristics:

Orphanet epidemiological data:

58
pilomatrixoma
Inheritance: Not applicable; Age of onset: Adolescent,Adult,Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
somatic mutation


HPO:

31
pilomatrixoma:
Inheritance somatic mutation


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:5374
OMIM® 57 132600
KEGG 36 H00947
MeSH 44 D018296
NCIt 50 C7368
SNOMED-CT 67 274901004
MESH via Orphanet 45 D018296
ICD10 via Orphanet 33 D23.3 D23.4 D23.6
UMLS via Orphanet 71 C0206711
Orphanet 58 ORPHA91414
MedGen 41 C0206711
SNOMED-CT via HPO 68 124975008 44155009
UMLS 70 C0206711

Summaries for Pilomatrixoma

MedlinePlus Genetics : 43 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 pilomatrix carcinoma and syringocystadenoma papilliferum. An important gene associated with Pilomatrixoma is CTNNB1 (Catenin Beta 1), and among its related pathways/superpathways are Wnt signaling pathway and Focal adhesion. Affiliated tissues include skin, colon and breast, and related phenotype is pilomatrixoma.

GARD : 20 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.

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 20-May-2021)

KEGG : 36 Pilomatricoma is a benign cutaneous tumor of follicular structures. It occurs either in isolation or in conjunction with other symptoms such as myotonic dystrophy and Rubenstein-Taybi syndrome. The histologic appearance of the tumor is characterized by cells resembling those of the hair follicle matrix and sometimes show differentiation toward the follicular infundibulum and surrounding sheath.

UniProtKB/Swiss-Prot : 72 Pilomatrixoma: Common benign skin tumor.

Wikipedia : 73 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 212)
# Related Disease Score Top Affiliating Genes
1 pilomatrix carcinoma 31.1 TCHH MUC1 ENO2
2 syringocystadenoma papilliferum 30.4 S100B MUC1
3 epidermoid cysts 30.4 TCHH S100B S100A6 S100A3 S100A2
4 basal cell carcinoma 30.3 TCHH LEF1 KRT15 CTNNB1 BMP4
5 pleomorphic adenoma 30.2 S100B MUC1 CTNNB1 BMP2
6 merkel cell carcinoma 30.1 MUC1 ENO2 CTNNB1
7 neurilemmoma 30.1 S100B MUC1 ENO2
8 eccrine acrospiroma 30.1 YAP1 KRT15
9 skin pilomatrix carcinoma 30.0 KRT31 HOXC13
10 nodular basal cell carcinoma 29.9 KRT31 KRT15
11 skin carcinoma 29.3 LGR6 LEF1 KRT15 ENO2 CTNNB1
12 hair follicle neoplasm 28.8 TCHH PAGR1 LGR6 LEF1 KRT31 KRT15
13 goblet cell carcinoid 10.4 ENO2 CTNNB1
14 bednar tumor 10.4 S100B ENO2
15 sinonasal undifferentiated carcinoma 10.4 MUC1 ENO2
16 sclerosing perineurioma 10.4 S100B MUC1
17 localized hypertrophic neuropathy 10.4 S100B MUC1
18 papillary tumor of the pineal region 10.4 MUC1 ENO2
19 bile duct mucinous adenocarcinoma 10.4 MUC1 ENO2
20 spindle cell thymoma 10.4 MUC1 ENO2
21 reticular perineurioma 10.4 S100B MUC1
22 middle ear adenoma 10.4 MUC1 ENO2
23 aggressive digital papillary adenocarcinoma 10.4 S100B MUC1
24 cutaneous ganglioneuroma 10.4 S100A6 ENO2
25 head injury 10.4 S100B ENO2
26 cerebral primitive neuroectodermal tumor 10.4 S100B MUC1
27 pineocytoma 10.4 S100B ENO2
28 non-functioning pituitary adenoma 10.4 S100B MUC1
29 mammary analogue secretory carcinoma 10.4 MUC1 CTNNB1
30 cutaneous leiomyosarcoma 10.3 S100B MUC1
31 sclerosing hemangioma 10.3 MUC1 ENO2 CTNNB1
32 small intestine cancer 10.3 MUTYH MUC1 CTNNB1
33 tubular adenocarcinoma 10.3 MUC1 ENO2 CTNNB1
34 polymorphous low-grade adenocarcinoma 10.3 S100B MUC1 CTNNB1
35 intraneural perineurioma 10.3 S100B MUC1
36 akinetic mutism 10.3 S100B ENO2
37 odontogenic myxoma 10.3 S100B CD36
38 post-cardiac arrest syndrome 10.3 S100B ENO2
39 intracranial cysts 10.3 S100B MUC1 ENO2
40 meningeal melanocytoma 10.3 S100B MUC1 ENO2
41 follicular infundibulum tumor 10.3 TCHH KRT15
42 ossifying fibromyxoid tumor 10.3 S100B MUC1 ENO2
43 optic nerve glioma 10.3 S100B MUC1 ENO2
44 ovarian small cell carcinoma 10.3 S100B MUC1 ENO2
45 papilloma of choroid plexus 10.3 S100B MUC1 ENO2
46 hemangiopericytoma, malignant 10.3 S100B MUC1 ENO2
47 desmoid tumor 10.3 PAGR1 MUTYH CTNNB1
48 desmoplastic small round cell tumor 10.3 S100B MUC1 ENO2
49 hidrocystoma 10.3 S100A2 KRT15
50 chordoid meningioma 10.3 S100B MUC1

Graphical network of the top 20 diseases related to Pilomatrixoma:



Diseases related to Pilomatrixoma

Symptoms & Phenotypes for Pilomatrixoma

Human phenotypes related to Pilomatrixoma:

31
# Description HPO Frequency HPO Source Accession
1 pilomatrixoma 31 HP:0030434

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

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 29 CTNNB1

Anatomical Context for Pilomatrixoma

MalaCards organs/tissues related to Pilomatrixoma:

40
Skin, Colon, Breast, Bone, Salivary Gland, Ovary, Pituitary

Publications for Pilomatrixoma

Articles related to Pilomatrixoma:

(show top 50) (show all 877)
# Title Authors PMID Year
1
A common human skin tumour is caused by activating mutations in beta-catenin. 54 6 57
10192393 1999
2
Pilomatrixoma: A Comprehensive Review of the Literature. 57 61
30119102 2018
3
beta-catenin expression in pilomatrixomas. Relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles. 61 57
11703283 2001
4
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. 6
28152038 2017
5
Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA. 6
26556299 2016
6
Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 6
25820570 2015
7
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 6
25157968 2014
8
Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. 6
24733792 2014
9
A kindred with MYH-associated polyposis and pilomatricomas. 57
15690400 2005
10
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. 6
15673720 2005
11
Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. 6
12606733 2003
12
APC mutations in sporadic medulloblastomas. 6
10666372 2000
13
Childhood hepatoblastomas frequently carry a mutated degradation targeting box of the beta-catenin gene. 6
9927029 1999
14
Pilomatrixomas in Rubinstein-Taybi syndrome. 57
9557902 1998
15
Beta-catenin mutations in cell lines established from human colorectal cancers. 6
9294210 1997
16
Activation of beta-catenin-Tcf signaling in colon cancer by mutations in beta-catenin or APC. 6
9065402 1997
17
Familial multiple pilomatrixomas. 57
1390157 1992
18
Myotonia atrophica and multiple calcifying epithelioma of Malherbe. 57
4162862 1965
19
[The familial form of epithelioma (calcifying) of Malherbe]. 57
13704223 1960
20
Mutations in exon 3 of the CTNNB1 gene (beta-catenin gene) in cutaneous adnexal tumors. 54 61
19384065 2009
21
Multiple pilomatricomas: cutaneous marker for myotonic dystrophy. 54 61
18718206 2008
22
beta-Catenin mutation and its nuclear localization are confirmed to be frequent causes of Wnt signaling pathway activation in pilomatricomas. 54 61
16378715 2006
23
Expression patterns of hair and epithelial keratins and transcription factors HOXC13, LEF1, and beta-catenin in a malignant pilomatricoma: a histological and immunohistochemical study. 61 54
16441405 2006
24
[Principal features of multiple pilomatricoma and its association with beta-catenin mutation]. 61 54
15927129 2005
25
Bone morphogenetic protein-mediated type II collagen expression in pilomatricoma and cutaneous mixed tumor. 61 54
15701082 2005
26
Type II collagen accumulation in overlying dermo-epidermal junction of pilomatricoma is mediated by bone morphogenetic protein 2 and 4. 61 54
15102076 2004
27
beta-Catenin is expressed aberrantly in tumors expressing shadow cells. Pilomatricoma, craniopharyngioma, and calcifying odontogenic cyst. 61 54
14608900 2003
28
Low frequency of beta-catenin gene mutations in pilomatricoma. 54 61
12575848 2002
29
Nuclear localization of beta-catenin in the hair matrix cells and differentiated keratinocytes. 61 54
11641056 2001
30
beta-Catenin expression in the transitional cell zone of pilomatricoma. 54 61
11703290 2001
31
beta-Catenin gene mutation in human hair follicle-related tumors. 54 61
11472567 2001
32
Immunohistochemical expression of bone morphogenetic protein-2 in pilomatricoma. 61 54
11069452 2000
33
Expression of trichohyalin in dermatological disorders: a comparative study with involucrin and filaggrin by immunohistochemical staining. 61 54
10228630 1999
34
Trichohyalin expression in skin tumors: retrieval of trichohyalin antigenicity in tissues by microwave irradiation. 61 54
8734653 1996
35
Pilomatricoma with florid osseous metaplasia: A common tumor with rare histopathological finding. 61
32621564 2021
36
Germline Mutation of PLCD1 Contributes to Human Multiple Pilomatricomas through Protein Kinase D/Extracellular Signal-Regulated Kinase1/2 Cascade and TRPV6. 61
32795530 2021
37
Pilomatrical Tumor of Low Malignant Potential: A Tumor Between Pilomatricoma and Pilomatrical Carcinoma. 61
32769547 2021
38
Pilomatrixoma: a common tumour of head and neck, but rarely reported. 61
33526526 2021
39
Pseudocystic pilomatricoma: A new variant and review of the literature. 61
32700760 2021
40
Pilomatrixoma with Atypical Features: A Case Report. 61
33708090 2021
41
Pilomatricoma male breast, mimicking breast carcinoma-A rare case. 61
33433446 2021
42
Minimally invasive surgical treatment of pilomatrixoma. 61
33369831 2020
43
Vulvar Pilomatrix Carcinoma: Morphologic and Molecular Features. 61
33252403 2020
44
Immunohistochemical Localization of Phosphorylated and Unphosphorylated Form of β-catenin With Regard to Shadow Cell and Squamous Differentiation in Cutaneous Pilomatricoma. 61
32310857 2020
45
Ossifying Pilomatrixoma of the Eyelid. 61
32304502 2020
46
Proliferating pilomatricoma in a 9-year-old girl. 61
32985708 2020
47
Comparison of Benign and Malignant Pilomatricomas Using Whole-exome Sequencing. 61
33099480 2020
48
Four pediatric cases of secondary neoplasms arising in nevus sebaceous. 61
32495466 2020
49
Sonographic characteristics of pilomatricomas and their association with symptom duration. 61
33019466 2020
50
Distinguishing a Trichilemmal Cyst From a Pilomatricoma With Ultrasound. 61
32333607 2020

Variations for Pilomatrixoma

ClinVar genetic disease variations for Pilomatrixoma:

6 (show all 26)
# 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.110C>T (p.Ser37Phe) SNV Pathogenic 17586 rs121913403 GRCh37: 3:41266113-41266113
GRCh38: 3:41224622-41224622
5 CTNNB1 NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys) SNV Pathogenic 17579 rs121913403 GRCh37: 3:41266113-41266113
GRCh38: 3:41224622-41224622
6 CTNNB1 NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr) SNV Pathogenic 17581 rs28931588 GRCh37: 3:41266097-41266097
GRCh38: 3:41224606-41224606
7 CTNNB1 NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter) SNV Pathogenic 265443 rs775104326 GRCh37: 3:41266486-41266486
GRCh38: 3:41224995-41224995
8 MUTYH NM_001048174.2(MUTYH):c.1103-2A>G SNV Pathogenic 141282 rs587781628 GRCh37: 1:45797230-45797230
GRCh38: 1:45331558-45331558
9 MUTYH NM_001048174.2(MUTYH):c.305-1G>C SNV Pathogenic 234229 rs372267274 GRCh37: 1:45798843-45798843
GRCh38: 1:45333171-45333171
10 MUTYH NM_001128425.1(MUTYH):c.55C>T (p.Arg19Ter) SNV Pathogenic 127845 rs587780088 GRCh37: 1:45800165-45800165
GRCh38: 1:45334493-45334493
11 CTNNB1 NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) SNV Pathogenic 17584 rs28931589 GRCh37: 3:41266104-41266104
GRCh38: 3:41224613-41224613
12 CTNNB1 NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) SNV Pathogenic 17587 rs121913413 GRCh37: 3:41266125-41266125
GRCh38: 3:41224634-41224634
13 MUTYH NM_012222.2(MUTYH):c.725G>A (p.Arg242His) SNV Pathogenic 140877 rs140342925 GRCh37: 1:45798117-45798117
GRCh38: 1:45332445-45332445
14 MUTYH NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) SNV Pathogenic 5294 rs36053993 GRCh37: 1:45797228-45797228
GRCh38: 1:45331556-45331556
15 MUTYH NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) SNV Pathogenic 5293 rs34612342 GRCh37: 1:45798475-45798475
GRCh38: 1:45332803-45332803
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 CTNNB1 NM_001904.4(CTNNB1):c.100G>A (p.Gly34Arg) SNV Likely pathogenic 376232 rs121913399 GRCh37: 3:41266103-41266103
GRCh38: 3:41224612-41224612
19 MUTYH NM_001128425.1(MUTYH):c.347G>A (p.Arg116Gln) SNV Uncertain significance 142736 rs587782683 GRCh37: 1:45799086-45799086
GRCh38: 1:45333414-45333414
20 MUTYH NM_001128425.1(MUTYH):c.1493A>G (p.Gln498Arg) SNV Uncertain significance 127840 rs587780085 GRCh37: 1:45796213-45796213
GRCh38: 1:45330541-45330541
21 MUTYH NM_001128425.1(MUTYH):c.1000C>G (p.Pro334Ala) SNV Uncertain significance 183823 rs587778537 GRCh37: 1:45797519-45797519
GRCh38: 1:45331847-45331847
22 MUTYH NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys) SNV Uncertain significance 182694 rs149342980 GRCh37: 1:45797839-45797839
GRCh38: 1:45332167-45332167
23 MUTYH NM_001048171.1(MUTYH):c.530G>A (p.Arg177Gln) SNV Uncertain significance 127846 rs369677603 GRCh37: 1:45798439-45798439
GRCh38: 1:45332767-45332767
24 MUTYH NM_001048171.1(MUTYH):c.1213G>A (p.Ala405Thr) SNV Uncertain significance 135983 rs587780744 GRCh37: 1:45797160-45797160
GRCh38: 1:45331488-45331488
25 MUTYH NM_001048174.2(MUTYH):c.901G>A (p.Val301Met) SNV Uncertain significance 134859 rs147718169 GRCh37: 1:45797707-45797707
GRCh38: 1:45332035-45332035
26 MUTYH NM_001048171.1(MUTYH):c.1378C>T (p.Arg460Cys) SNV Uncertain significance 41754 rs200229669 GRCh37: 1:45796910-45796910
GRCh38: 1:45331238-45331238

UniProtKB/Swiss-Prot genetic disease variations for Pilomatrixoma:

72
# 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:

9 (show top 50) (show all 2431)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM151335415 TSC1 skin,scalp,carcinoma,NS c.2204C>T p.A735V 9:132903655-132903655 15
2 COSM133091204 TSC1 skin,scalp,carcinoma,NS c.2051C>T p.A684V 9:132903655-132903655 15
3 COSM111044270 TSC1 skin,scalp,carcinoma,NS c.2204C>T p.A735V 9:132903655-132903655 15
4 COSM151876134 TSC1 skin,scalp,carcinoma,NS c.2204C>T p.A735V 9:132903655-132903655 15
5 COSM149043273 TSC1 skin,scalp,carcinoma,NS c.2201C>T p.A734V 9:132903655-132903655 15
6 COSM85724063 TSC1 skin,scalp,carcinoma,NS c.2204C>T p.A735V 9:132903655-132903655 15
7 COSM147987712 TSC1 skin,scalp,carcinoma,NS c.2201C>T p.A734V 9:132903655-132903655 15
8 COSM150679523 TSC1 skin,scalp,carcinoma,NS c.2189C>T p.A730V 9:132903655-132903655 15
9 COSM150539505 TSC1 skin,scalp,carcinoma,NS c.2051C>T p.A684V 9:132903655-132903655 15
10 COSM148039481 TSC1 skin,scalp,carcinoma,NS c.2186C>T p.A729V 9:132903655-132903655 15
11 COSM122734157 TP53 skin,scalp,carcinoma,NS c.164G>A p.G55D 17:7674971-7674971 15
12 COSM144087146 TP53 skin,arm,carcinoma,NS c.245C>T p.S82F 17:7674241-7674241 15
13 COSM88173893 TP53 skin,leg,carcinoma,NS c.987C>A p.T329= 17:7673541-7673541 15
14 COSM144653327 TP53 skin,face,carcinoma,NS c.*131C>T p.? 17:7670685-7670685 15
15 COSM143944147 TP53 skin,arm,carcinoma,NS c.265C>T p.R89W 17:7674221-7674221 15
16 COSM112254631 TP53 skin,face,carcinoma,NS c.586C>T p.R196* 17:7674945-7674945 15
17 COSM143371865 TP53 skin,face,carcinoma,NS c.469C>T p.R157* 17:7674945-7674945 15
18 COSM93183824 TP53 skin,face,carcinoma,NS c.680C>T p.S227F 17:7674283-7674283 15
19 COSM144652296 TP53 skin,scalp,carcinoma,NS c.469C>T p.R157* 17:7674945-7674945 15
20 COSM143943797 TP53 skin,neck,carcinoma,NS c.266G>A p.R89Q 17:7674220-7674220 15
21 COSM122271260 TP53 skin,upper extremity,carcinoma,NS c.422G>A p.R141H 17:7673802-7673802 15
22 COSM144310575 TP53 skin,leg,carcinoma,NS c.443-1G>A p.? 17:7674972-7674972 15
23 COSM121875437 TP53 skin,face,carcinoma,NS c.178C>T p.Q60* 17:7674957-7674957 15
24 COSM143388508 TP53 skin,face,carcinoma,NS c.629G>C p.R210T 17:7674217-7674217 15
25 COSM111758868 TP53 skin,face,carcinoma,NS c.742C>T p.R248W 17:7674221-7674221 15
26 COSM87897745 TP53 skin,leg,carcinoma,NS c.524G>A p.R175H 17:7675088-7675088 15
27 COSM144650780 TP53 skin,leg,carcinoma,NS c.407G>A p.R136H 17:7675088-7675088 15
28 COSM142570304 TP53 skin,face,carcinoma,NS c.715C>T p.P239S 17:7673788-7673788 15
29 COSM142560384 TP53 skin,face,carcinoma,NS c.616G>T p.G206C 17:7674230-7674230 15
30 COSM142742951 TP53 skin,face,carcinoma,NS c.315G>A p.Q105= 17:7675180-7675180 15
31 COSM105639284 TP53 skin,face,carcinoma,NS c.712T>A p.C238S 17:7674251-7674251 15
32 COSM112253879 TP53 skin,face,carcinoma,NS c.742C>T p.R248W 17:7674221-7674221 15
33 COSM121899015 TP53 skin,scalp,carcinoma,NS c.163+2T>A p.? 17:7675051-7675051 15
34 COSM121878773 TP53 skin,face,carcinoma,NS c.241C>T p.R81* 17:7674894-7674894 15
35 COSM111776406 TP53 skin,face,carcinoma,NS c.993+1G>A p.? 17:7673534-7673534 15
36 COSM142837551 TP53 skin,face,carcinoma,NS c.742C>T p.R248W 17:7674221-7674221 15
37 COSM122742188 TP53 skin,face,carcinoma,NS c.58C>T p.P20S 17:7675158-7675158 15
38 COSM122735020 TP53 skin,face,carcinoma,NS c.190C>T p.R64* 17:7674945-7674945 15
39 COSM142560684 TP53 skin,leg,carcinoma,NS c.443-1G>A p.? 17:7674972-7674972 15
40 COSM145025490 TP53 skin,scalp,carcinoma,NS c.682C>T p.R228W 17:7673821-7673821 15
41 COSM144028845 TP53 skin,face,carcinoma,NS c.679T>A p.C227S 17:7674251-7674251 15
42 COSM144021997 TP53 skin,face,carcinoma,NS c.421C>T p.P141S 17:7675158-7675158 15
43 COSM144015364 TP53 skin,face,carcinoma,NS c.604C>T p.R202* 17:7674894-7674894 15
44 COSM143964140 TP53 skin,leg,carcinoma,NS c.386A>G p.N129S 17:7673757-7673757 15
45 COSM143182032 TP53 skin,leg,carcinoma,NS c.263A>T p.N88I 17:7674223-7674223 15
46 COSM121877621 TP53 skin,face,carcinoma,NS c.190C>T p.R64* 17:7674945-7674945 15
47 COSM142842830 TP53 skin,leg,carcinoma,NS c.833C>T p.P278L 17:7673787-7673787 15
48 COSM93201188 TP53 skin,face,carcinoma,NS c.993+1G>A p.? 17:7673534-7673534 15
49 COSM93228649 TP53 skin,scalp,carcinoma,NS c.724T>G p.C242G 17:7674239-7674239 15
50 COSM144658487 TP53 skin,face,carcinoma,NS c.143C>A p.P48Q 17:7676109-7676109 15

Expression for Pilomatrixoma

Search GEO for disease gene expression data for Pilomatrixoma.

Pathways for Pilomatrixoma

Pathways related to Pilomatrixoma according to KEGG:

36
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310
2 Focal adhesion hsa04510
3 Adherens junction hsa04520
4 Tight junction hsa04530
5 Leukocyte transendothelial migration hsa04670
6 Melanogenesis hsa04916
7 Pathways in cancer hsa05200

Pathways related to Pilomatrixoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.26 YAP1 LEF1 CTNNB1 BMP4
2
Show member pathways
12.21 TCHH KRT81 KRT31 KRT15
3
Show member pathways
12.18 LEF1 CTNNB1 BMP4 BMP2
4
Show member pathways
11.94 LEF1 CTNNB1 BMP4 BMP2
5 11.72 YAP1 LEF1 CTNNB1 BMP4
6 11.44 S100B BMP4 BMP2
7 11.22 YAP1 LEF1 CTNNB1 BMP4 BMP2
8 11.2 LEF1 CTNNB1 BMP4
9 10.79 CTNNB1 BMP4 BMP2
10 10.52 CTNNB1 BMP2

GO Terms for Pilomatrixoma

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.23 S100B MUC1 KRT81 KRT31 ENO2 CD36
2 beta-catenin-TCF complex GO:1990907 8.96 LEF1 CTNNB1

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.14 YAP1 PAGR1 LEF1 HOXC13 CTNNB1 BMP4
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.09 YAP1 LEF1 CTNNB1 CD36 BMP4 BMP2
3 positive regulation of cell proliferation GO:0008284 10.04 YAP1 S100B LEF1 CTNNB1 BMP4
4 positive regulation of cell migration GO:0030335 9.93 LGR6 LEF1 BMP4 BMP2
5 positive regulation of gene expression GO:0010628 9.91 YAP1 LEF1 CTNNB1 CD36 BMP4 BMP2
6 keratinization GO:0031424 9.9 TCHH KRT81 KRT31 KRT15
7 negative regulation of gene expression GO:0010629 9.89 YAP1 CTNNB1 CD36 BMP4 BMP2
8 osteoblast differentiation GO:0001649 9.82 LEF1 BMP4 BMP2
9 BMP signaling pathway GO:0030509 9.8 LEF1 BMP4 BMP2
10 cellular response to growth factor stimulus GO:0071363 9.78 CTNNB1 BMP4 BMP2
11 cornification GO:0070268 9.71 TCHH KRT81 KRT31 KRT15
12 epithelial to mesenchymal transition GO:0001837 9.7 LEF1 CTNNB1 BMP2
13 branching involved in ureteric bud morphogenesis GO:0001658 9.69 CTNNB1 BMP4 BMP2
14 positive regulation of cartilage development GO:0061036 9.65 BMP4 BMP2
15 smooth muscle cell differentiation GO:0051145 9.65 CTNNB1 BMP4
16 positive regulation of ossification GO:0045778 9.64 BMP4 BMP2
17 positive regulation of intracellular estrogen receptor signaling pathway GO:0033148 9.63 YAP1 PAGR1
18 regulation of smooth muscle cell proliferation GO:0048660 9.61 CTNNB1 BMP4
19 bud elongation involved in lung branching GO:0060449 9.58 YAP1 BMP4
20 telencephalon regionalization GO:0021978 9.58 BMP4 BMP2
21 BMP signaling pathway involved in heart development GO:0061312 9.57 BMP4 BMP2
22 trachea formation GO:0060440 9.56 CTNNB1 BMP4
23 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.55 BMP4 BMP2
24 negative regulation of striated muscle tissue development GO:0045843 9.54 LEF1 BMP4
25 vasculature development GO:0001944 9.54 LEF1 CTNNB1 BMP4
26 mesenchymal cell proliferation involved in ureteric bud development GO:0072138 9.48 BMP4 BMP2
27 BMP signaling pathway involved in heart induction GO:0003130 9.46 BMP4 BMP2
28 positive regulation of osteoblast differentiation GO:0045669 9.46 YAP1 CTNNB1 BMP4 BMP2
29 cardiac jelly development GO:1905072 9.32 BMP4 BMP2
30 positive regulation of branching involved in lung morphogenesis GO:0061047 9.26 CTNNB1 BMP4
31 odontogenesis of dentin-containing tooth GO:0042475 9.26 LEF1 CTNNB1 BMP4 BMP2
32 positive regulation of epithelial to mesenchymal transition GO:0010718 8.92 LEF1 CTNNB1 BMP4 BMP2

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.23 YAP1 S100B S100A6 S100A3 S100A2 PAGR1
2 S100 protein binding GO:0044548 9.4 S100B S100A6
3 BMP receptor binding GO:0070700 9.37 BMP4 BMP2
4 estrogen receptor binding GO:0030331 9.33 PAGR1 LEF1 CTNNB1
5 co-receptor binding GO:0039706 9.32 BMP4 BMP2
6 transition metal ion binding GO:0046914 9.13 TCHH S100A3 S100A2
7 calcium-dependent protein binding GO:0048306 8.92 S100B S100A6 S100A3 S100A2

Sources for Pilomatrixoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....