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PTR
MCID: PLM026
MIFTS: 53

Pilomatrixoma (PTR)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for Pilomatrixoma

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MalaCards integrated aliases for Pilomatrixoma:

Name: Pilomatrixoma 57 12 53 25 59 75 29 6 44 15 40 73
Pilomatricoma 57 12 53 25 59 37 55
Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas 57 13 6
Ptr 57 53 75
Epithelioma Calcificans of Malherbe 57 59
Calcifying Epithelioma of Malherbe 53 25
Benign Pilomatricoma 12 25
Malherbe Calcifying Epithelioma 25
Pilomatricoma, Somatic 57
Benign Pilomatrixoma 25
Pilomatricoma; Ptr 57

Characteristics:

Orphanet epidemiological data:

59
pilomatrixoma
Inheritance: Not applicable; Age of onset: Adolescent,Adult,Childhood;

OMIM:

57
Inheritance:
somatic mutation


HPO:

32
pilomatrixoma:
Inheritance somatic mutation autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 132600
Disease Ontology 12 DOID:5374
MeSH 44 D018296
NCIt 50 C7368
SNOMED-CT 68 44155009
Orphanet 59 ORPHA91414
MESH via Orphanet 45 D018296
UMLS via Orphanet 74 C0206711
ICD10 via Orphanet 34 D23.3 D23.4 D23.6
MedGen 42 C0206711
KEGG 37 H00947
UMLS 73 C0206711
Sources

Summaries for Pilomatrixoma

About this section
NIH Rare Diseases : 53 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.

MalaCards based summary : Pilomatrixoma, also known as pilomatricoma, is related to pilomatrix carcinoma and epidermoid cysts. 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, bone and liver, and related phenotypes are neoplasm of the skin and pilomatrixoma

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 : 75 Pilomatrixoma: Common benign skin tumor.

Wikipedia : 76 Pilomatricoma, also known as a calcifying epithelioma of Malherbe,Malherbe calcifying epithelioma, and... more...

Description from OMIM: 132600
Sources

Related Diseases for Pilomatrixoma

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

(show top 50) (show all 142)
# Related Disease Score Top Affiliating Genes
1 pilomatrix carcinoma 30.4 TCHH MUC1 ENO2
2 epidermoid cysts 29.8 TCHH S100B S100A3
3 skin pilomatrix carcinoma 12.0
4 tetralogy of fallot 10.6
5 multiple sclerosis 10.4
6 myotonia 10.3
7 goblet cell carcinoid 10.2 ENO2 CTNNB1
8 adenomyoma 10.2 MUC1 CTNNB1
9 sinonasal undifferentiated carcinoma 10.2 MUC1 ENO2
10 papillary tumor of the pineal region 10.2 MUC1 ENO2
11 middle ear adenoma 10.2 MUC1 ENO2
12 microcystic adenoma 10.2 MUC1 ENO2
13 clear cell ependymoma 10.2 MUC1 ENO2
14 clear cell adenoma 10.2 S100B CTNNB1
15 lobular neoplasia 10.2 MUC1 CTNNB1
16 melanotic neuroectodermal tumor 10.2 MUC1 ENO2
17 sclerosing hemangioma 10.2 MUC1 CTNNB1
18 bednar tumor 10.2 S100B ENO2
19 desmoplastic small round cell tumor 10.2 MUC1 ENO2
20 sclerosing perineurioma 10.2 S100B MUC1
21 perineurioma 10.2 S100B MUC1
22 localized hypertrophic neuropathy 10.2 S100B MUC1
23 mucinous ovarian cystadenoma 10.2 MUC1 ENO2
24 reticular perineurioma 10.2 S100B MUC1
25 extraskeletal ewing sarcoma 10.2 MUC1 ENO2
26 non-functioning pituitary adenoma 10.2 S100B MUC1
27 functioning pituitary adenoma 10.2 S100B MUC1
28 syringocystadenoma papilliferum 10.2 S100B MUC1
29 head injury 10.2 S100B ENO2
30 lymphoepithelioma-like carcinoma 10.2 MUC1 ENO2
31 chordoid meningioma 10.2 S100B MUC1
32 fibrous meningioma 10.2 S100B MUC1
33 papillary ependymoma 10.2 S100B ENO2
34 middle cerebral artery infarction 10.2 S100B ENO2
35 eccrine porocarcinoma 10.2 S100B MUC1
36 aggressive digital papillary adenocarcinoma 10.2 S100B MUC1
37 spindle cell rhabdomyosarcoma 10.2 S100B MUC1
38 monophasic synovial sarcoma 10.2 S100B MUC1
39 pineocytoma 10.2 S100B ENO2
40 myxopapillary ependymoma 10.2 S100B MUC1
41 myxofibrosarcoma 10.2 S100B CD36
42 chordoid glioma 10.2 S100B MUC1
43 syringoma 10.2 S100B MUC1
44 chondroid chordoma 10.2 MUC1 ENO2
45 pleomorphic liposarcoma 10.2 S100B MUC1
46 anaplastic ependymoma 10.2 S100B MUC1
47 embryonal sarcoma 10.1 S100B CTNNB1
48 spindle cell sarcoma 10.1 S100B MUC1
49 granular cell tumor 10.1 S100B ENO2
50 papilloma of choroid plexus 10.1 S100B MUC1

Graphical network of the top 20 diseases related to Pilomatrixoma:



Diseases related to Pilomatrixoma
Sources

Symptoms & Phenotypes for Pilomatrixoma

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Symptoms via clinical synopsis from OMIM:

57
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 Pilomatrixoma:

32
# Description HPO Frequency HPO Source Accession
1 neoplasm of the skin 32 HP:0008069
2 pilomatrixoma 32 HP:0030434

MGI Mouse Phenotypes related to Pilomatrixoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 taste/olfaction MP:0005394 8.8 CD36 CTNNB1 ENO2
Sources

Drugs & Therapeutics for Pilomatrixoma

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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 Clinical Trial Comparing Tissue Adhesive Vs. Absorbable Suture Vs. Non-Absorbable Suture Unknown status NCT00292513 Not Applicable

Search NIH Clinical Center for Pilomatrixoma

Cochrane evidence based reviews: pilomatrixoma

Sources

Genetic Tests for Pilomatrixoma

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Genetic tests related to Pilomatrixoma:

# Genetic test Affiliating Genes
1 Pilomatrixoma 29 CTNNB1 MUTYH
Sources

Anatomical Context for Pilomatrixoma

About this section

MalaCards organs/tissues related to Pilomatrixoma:

41
Skin, Bone, Liver, Brain, Pituitary, Pineal, Breast
Sources

Publications for Pilomatrixoma

About this section

Articles related to Pilomatrixoma:

(show top 50) (show all 451)
# Title Authors Year
1
Rare case of pilomatrixoma of the lower eyelid following blunt trauma. ( 29763996 )
2018
2
Calcifying epithelioma of malherbe (Pilomatrixoma): Clinical and sonographic features. ( 28677820 )
2018
3
Fine needle aspiration of pilomatrixoma: Cytologic features on thinprep and diagnostic pitfalls. ( 29464894 )
2018
4
Colossal pilomatrixoma. ( 29182000 )
2018
5
Pilomatrixoma: A Comprehensive Review of the Literature. ( 30119102 )
2018
6
A new case of the pilomatrixoma rare in the preauricular region and review of series of cases. ( 30284072 )
2018
7
Aggressive metastatic malignant pilomatrixoma followed by 18F-FDG PET/CT. ( 30424974 )
2018
8
Pilomatrixoma Masquerading as Giant Chalazion. ( 30454715 )
2018
9
Pilomatricoma: An unusual cause of lump in a male breast. ( 28555882 )
2018
10
Slowly growing mass on the left shoulder. Pilomatricoma. ( 28852770 )
2018
11
Proliferating Pilomatricoma Mimicking a Malignant Tumor. ( 29106839 )
2018
12
Importance of Individual Ghost Cells in Fine-Needle Aspiration Cytology Diagnosis of Pilomatricoma. ( 29370510 )
2018
13
Giant Pilomatricoma Arising as a Rapidly Growing Vascularized Tumor in a Child. ( 29533276 )
2018
14
Pilomatricoma with bullous-like/anetodermic appearance: Possibly associated with matrix metalloproteinases. ( 29682830 )
2018
15
Early Stage of Pilomatricoma with an Empty Cyst Cavity and Unusual Clinical Appearance. ( 29946220 )
2018
16
Pilomatricoma of the scalp mimicking poorly differentiated cutaneous carcinoma on positron emission tomography/computed tomography (PET/CT) scan and fine-needle aspiration (FNA) cytology. ( 29984278 )
2018
17
Pilomatricoma (calcifying epithelioma): MDCT and MR imaging findings in 31 patients with radiological-pathological correlation. ( 30150057 )
2018
18
Cytopathological findings of proliferating pilomatricoma misdiagnosed as a malignant parotid gland tumor. ( 30153836 )
2018
19
A patient with pilomatricoma in the parotid region: case report and review of the literature. ( 30534834 )
2018
20
Pilomatrixoma of the Neck/Shoulder Region Mimicking a Rapidly Growing Neoplasm of Peripheral Nerve Sheath Origin in Neurofibromatosis Type 1. ( 29187472 )
2017
21
Pilomatrixoma located on the cruris: an uncommon localization. ( 28690776 )
2017
22
Pilomatrixoma or a "hair line fracture". ( 28657285 )
2017
23
Metastatic endometrial endometrioid carcinoma mimicking pilomatrixoma of the distal vagina. ( 28130284 )
2017
24
Eyelid pilomatrixoma masquerading as chalazion. ( 28457306 )
2017
25
Metastatic Malignant Pilomatrixoma in an 8-Year-Old Girl Misdiagnosed as a Recurrent Pilomatrixoma. ( 27673386 )
2017
26
Ulcerated giant pilomatricoma with appearance of cutaneous malignancy on positron emission tomography/computed tomography. ( 27207071 )
2017
27
Giant proliferating pilomatricoma; report of a rare entity. ( 27301983 )
2017
28
Pilomatricoma Associated with Kabuki Syndrome. ( 27778401 )
2017
29
Preauricular pilomatricoma: An uncommon entity in a dental pediatric patient. ( 27907820 )
2017
30
Punch and Scoop Technique for Removing Pilomatricoma. ( 28783214 )
2017
31
Malignant pilomatricoma in a dog with local and distant metastases treated with chemotherapy and bisphosphonates. ( 28795016 )
2017
32
Malignant Pilomatricoma: A Report of Two Cases and Review of Literature. ( 28892916 )
2017
33
Updated view on epidemiology and clinical aspects of pilomatricoma in adults. ( 28895117 )
2017
34
Proliferative pilomatricoma of the eyebrow in a 94-year-old patient. ( 29236266 )
2017
35
Pilomatrixoma Arising Juxtaposed to Congenital Melanocytic Nevi: Concern for Malignant Degeneration? A Previously Unreported Association. ( 27563370 )
2016
36
Pilomatrixoma of the Eyebrow in an 11-Year-Old Child. ( 27224956 )
2016
37
Parotid cyst due to sialolithiasis masquerading as pilomatrixoma on FNA. ( 27943427 )
2016
38
Rapid growth of pilomatrixoma after surgical trauma. ( 27318629 )
2016
39
Review of pediatric head and neck pilomatrixoma. ( 27240514 )
2016
40
Pilomatrixoma is a diagnostic trap in fine-needle aspiration cytology of the parotid region. ( 26991211 )
2016
41
Multiple familial pilomatrixomas in the absence of other clinical features: a case of familial benign pilomatrixoma. ( 26820789 )
2016
42
Complicated Giant Pilomatrixoma of the Parotid Region. ( 26929562 )
2016
43
Pilomatrixoma of the breast in a patient with type 1 myotonic dystrophy: successful surgical approach. ( 27373126 )
2016
44
A Rare Case of Pilomatrixoma (Calcifying Epithelioma of Malherbe) of Parotid Space Masquerading as Salivary Gland Tumor. ( 28855935 )
2016
45
Pilomatrixoma: An Uncommon Tumor of the Brow. ( 26707438 )
2016
46
A lesson learnt: retrospection in a case of pilomatricoma mimicking as parotid neoplasm. ( 26537510 )
2016
47
Pilomatricoma of Childhood: A Common Pathologic Diagnosis Yet a Rare Radiologic One. ( 26700350 )
2016
48
Uncommon benign tumour of the skin: infraorbital pilomatricoma. ( 26740272 )
2016
49
IMAGING DIAGNOSIS-NUCLEAR SCINTIGRAPHIC, RADIOLOGICAL, AND PATHOLOGIC CHARACTERISTICS OF METASTATIC PILOMATRICOMA IN A DOG. ( 26857288 )
2016
50
Pilomatricoma Mimicking Ruptured Epidermal Cyst in a Middle Aged Woman. ( 26955103 )
2016
Sources

Variations for Pilomatrixoma

About this section

UniProtKB/Swiss-Prot genetic disease variations for Pilomatrixoma:

75
# 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 Pilomatrixoma:

6 (show all 39)
# Gene Variation Type Significance SNP ID Assembly Location
1 MUTYH NM_001128425.1(MUTYH): c.536A> G (p.Tyr179Cys) single nucleotide variant Pathogenic rs34612342 GRCh37 Chromosome 1, 45798475: 45798475
2 MUTYH NM_001128425.1(MUTYH): c.536A> G (p.Tyr179Cys) single nucleotide variant Pathogenic rs34612342 GRCh38 Chromosome 1, 45332803: 45332803
3 MUTYH NM_001128425.1(MUTYH): c.1187G> A (p.Gly396Asp) single nucleotide variant Pathogenic/Likely pathogenic rs36053993 GRCh37 Chromosome 1, 45797228: 45797228
4 MUTYH NM_001128425.1(MUTYH): c.1187G> A (p.Gly396Asp) single nucleotide variant Pathogenic/Likely pathogenic rs36053993 GRCh38 Chromosome 1, 45331556: 45331556
5 MUTYH MUTYH, 2-BP INS, 1186GG insertion Pathogenic
6 CTNNB1 NM_001904.3(CTNNB1): c.98C> A (p.Ser33Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913400 GRCh37 Chromosome 3, 41266101: 41266101
7 CTNNB1 NM_001904.3(CTNNB1): c.98C> A (p.Ser33Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913400 GRCh38 Chromosome 3, 41224610: 41224610
8 CTNNB1 NM_001904.3(CTNNB1): c.95A> G (p.Asp32Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913396 GRCh37 Chromosome 3, 41266098: 41266098
9 CTNNB1 NM_001904.3(CTNNB1): c.95A> G (p.Asp32Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913396 GRCh38 Chromosome 3, 41224607: 41224607
10 CTNNB1 NM_001904.3(CTNNB1): c.110C> G (p.Ser37Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 GRCh37 Chromosome 3, 41266113: 41266113
11 CTNNB1 NM_001904.3(CTNNB1): c.110C> G (p.Ser37Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 GRCh38 Chromosome 3, 41224622: 41224622
12 CTNNB1 NM_001904.3(CTNNB1): c.94G> T (p.Asp32Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs28931588 GRCh37 Chromosome 3, 41266097: 41266097
13 CTNNB1 NM_001904.3(CTNNB1): c.94G> T (p.Asp32Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs28931588 GRCh38 Chromosome 3, 41224606: 41224606
14 CTNNB1 NM_001904.3(CTNNB1): c.98C> T (p.Ser33Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913400 GRCh37 Chromosome 3, 41266101: 41266101
15 CTNNB1 NM_001904.3(CTNNB1): c.98C> T (p.Ser33Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913400 GRCh38 Chromosome 3, 41224610: 41224610
16 CTNNB1 NM_001904.3(CTNNB1): c.101G> A (p.Gly34Glu) single nucleotide variant Pathogenic/Likely pathogenic rs28931589 GRCh37 Chromosome 3, 41266104: 41266104
17 CTNNB1 NM_001904.3(CTNNB1): c.101G> A (p.Gly34Glu) single nucleotide variant Pathogenic/Likely pathogenic rs28931589 GRCh38 Chromosome 3, 41224613: 41224613
18 CTNNB1 NM_001904.3(CTNNB1): c.110C> T (p.Ser37Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 GRCh37 Chromosome 3, 41266113: 41266113
19 CTNNB1 NM_001904.3(CTNNB1): c.110C> T (p.Ser37Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 GRCh38 Chromosome 3, 41224622: 41224622
20 CTNNB1 NM_001904.3(CTNNB1): c.122C> T (p.Thr41Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121913413 GRCh37 Chromosome 3, 41266125: 41266125
21 CTNNB1 NM_001904.3(CTNNB1): c.122C> T (p.Thr41Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121913413 GRCh38 Chromosome 3, 41224634: 41224634
22 MUTYH NM_001128425.1(MUTYH): c.1420C> T (p.Arg474Cys) single nucleotide variant Uncertain significance rs200229669 GRCh37 Chromosome 1, 45796910: 45796910
23 MUTYH NM_001128425.1(MUTYH): c.1420C> T (p.Arg474Cys) single nucleotide variant Uncertain significance rs200229669 GRCh38 Chromosome 1, 45331238: 45331238
24 MUTYH NM_001128425.1(MUTYH): c.1437_1439delGGA (p.Glu480del) deletion Pathogenic rs587778541 GRCh37 Chromosome 1, 45796891: 45796893
25 MUTYH NM_001128425.1(MUTYH): c.1437_1439delGGA (p.Glu480del) deletion Pathogenic rs587778541 GRCh38 Chromosome 1, 45331219: 45331221
26 MUTYH NM_001128425.1(MUTYH): c.985G> A (p.Val329Met) single nucleotide variant Conflicting interpretations of pathogenicity rs147718169 GRCh37 Chromosome 1, 45797707: 45797707
27 MUTYH NM_001128425.1(MUTYH): c.985G> A (p.Val329Met) single nucleotide variant Conflicting interpretations of pathogenicity rs147718169 GRCh38 Chromosome 1, 45332035: 45332035
28 MUTYH NM_001128425.1(MUTYH): c.1255G> A (p.Ala419Thr) single nucleotide variant Uncertain significance rs587780744 GRCh37 Chromosome 1, 45797160: 45797160
29 MUTYH NM_001128425.1(MUTYH): c.1255G> A (p.Ala419Thr) single nucleotide variant Uncertain significance rs587780744 GRCh38 Chromosome 1, 45331488: 45331488
30 MUTYH NM_001128425.1(MUTYH): c.933+3A> C single nucleotide variant Conflicting interpretations of pathogenicity rs587780751 GRCh37 Chromosome 1, 45797835: 45797835
31 MUTYH NM_001128425.1(MUTYH): c.933+3A> C single nucleotide variant Conflicting interpretations of pathogenicity rs587780751 GRCh38 Chromosome 1, 45332163: 45332163
32 MUTYH NM_001128425.1(MUTYH): c.734G> A (p.Arg245His) single nucleotide variant Pathogenic/Likely pathogenic rs140342925 GRCh37 Chromosome 1, 45798117: 45798117
33 MUTYH NM_001128425.1(MUTYH): c.734G> A (p.Arg245His) single nucleotide variant Pathogenic/Likely pathogenic rs140342925 GRCh38 Chromosome 1, 45332445: 45332445
34 MUTYH NM_001128425.1(MUTYH): c.347G> A (p.Arg116Gln) single nucleotide variant Uncertain significance rs587782683 GRCh37 Chromosome 1, 45799086: 45799086
35 MUTYH NM_001128425.1(MUTYH): c.347G> A (p.Arg116Gln) single nucleotide variant Uncertain significance rs587782683 GRCh38 Chromosome 1, 45333414: 45333414
36 CTNNB1 NM_001904.3(CTNNB1): c.100G> A (p.Gly34Arg) single nucleotide variant Likely pathogenic rs121913399 GRCh37 Chromosome 3, 41266103: 41266103
37 CTNNB1 NM_001904.3(CTNNB1): c.100G> A (p.Gly34Arg) single nucleotide variant Likely pathogenic rs121913399 GRCh38 Chromosome 3, 41224612: 41224612
38 CTNNB1 NM_001904.3(CTNNB1): c.100G> C (p.Gly34Arg) single nucleotide variant Likely pathogenic rs121913399 GRCh37 Chromosome 3, 41266103: 41266103
39 CTNNB1 NM_001904.3(CTNNB1): c.100G> C (p.Gly34Arg) single nucleotide variant Likely pathogenic rs121913399 GRCh38 Chromosome 3, 41224612: 41224612

Cosmic variations for Pilomatrixoma:

9 (show top 50) (show all 790)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM5679 CTNNB1 skin,neck,adnexal tumour,pilomatricoma c.110C>G p.S37C 3:41224622-41224622 22
2 COSM5662 CTNNB1 skin,neck,adnexal tumour,pilomatricoma c.110C>T p.S37F 3:41224622-41224622 22
3 COSM5669 CTNNB1 skin,face,adnexal tumour,pilomatricoma c.98C>T p.S33F 3:41224610-41224610 21
4 COSM5691 CTNNB1 skin,arm,adnexal tumour,pilomatricoma c.95A>T p.D32V 3:41224607-41224607 21
5 COSM5666 CTNNB1 skin,face,adnexal tumour,pilomatricoma c.110C>A p.S37Y 3:41224622-41224622 21
6 COSM607136 TGFBR1 skin,neck,carcinoma,NS c.1247C>T p.S416F 9:99146601-99146601 7
7 COSM6962965 SMO skin,neck,carcinoma,NS c.1103C>T p.P368L 7:129206332-129206332 7
8 COSM6962990 RARA skin,neck,carcinoma,NS c.1384C>T p.P462S 17:40356221-40356221 7
9 COSM6962984 RAD52 skin,neck,carcinoma,NS c.439G>A p.V147M 12:927173-927173 7
10 COSM6962994 PTPRT skin,neck,carcinoma,NS c.1607C>T p.S536L 20:42352239-42352239 7
11 COSM6962992 PTPRT skin,neck,carcinoma,NS c.1619G>A p.G540E 20:42352227-42352227 7
12 COSM6962970 PTPRD skin,neck,carcinoma,NS c.1736G>A p.S579N 9:8504347-8504347 7
13 COSM456125 PTPRD skin,neck,carcinoma,NS c.5048C>T p.S1683F 9:8341168-8341168 7
14 COSM1700914 PTPRD skin,neck,carcinoma,NS c.1261C>T p.P421S 9:8518130-8518130 7
15 COSM17483 PTCH1 skin,neck,carcinoma,NS c.1729-1G>T p.? 9:95469932-95469932 7
16 COSM17468 PTCH1 skin,neck,carcinoma,NS c.584G>T p.R195M 9:95485685-95485685 7
17 COSM29053 PTCH1 skin,neck,carcinoma,NS c.833G>A p.W278* 9:95480502-95480502 7
18 COSM29072 PTCH1 skin,neck,carcinoma,NS c.1067+1G>A p.? 9:95479968-95479968 7
19 COSM14452 PTCH1 skin,neck,carcinoma,NS c.2321G>A p.G774E 9:95467355-95467355 7
20 COSM6962989 PLCG2 skin,neck,carcinoma,NS c.115G>T p.E39* 16:81786104-81786104 7
21 COSM6962963 PIK3CG skin,neck,carcinoma,NS c.310G>A p.G104R 7:106867871-106867871 7
22 COSM6962964 PIK3CG skin,neck,carcinoma,NS c.3227G>A p.R1076K 7:106905305-106905305 7
23 COSM564 NRAS skin,neck,carcinoma,NS c.35G>A p.G12D 1:114716126-114716126 7
24 COSM6962996 NCOA3 skin,neck,carcinoma,NS c.979C>T p.H327Y 20:47634062-47634062 7
25 COSM4170532 MTOR skin,neck,carcinoma,NS c.3409G>A p.E1137K 1:11212464-11212464 7
26 COSM516 KRAS skin,neck,carcinoma,NS c.34G>T p.G12C 12:25245351-25245351 7
27 COSM6962967 KMT2C skin,neck,carcinoma,NS c.11659C>T p.H3887Y 7:152158874-152158874 7
28 COSM6962983 KMT2A skin,neck,carcinoma,NS c.4377T>G p.C1459W 11:118488658-118488658 7
29 COSM6438927 HGF skin,neck,carcinoma,NS c.974C>T p.P325L 7:81729671-81729671 7
30 COSM6962960 FGFR3 skin,neck,carcinoma,NS c.2421A>G p.*807W 4:1807262-1807262 7
31 COSM6962980 FGFR2 skin,neck,carcinoma,NS c.2234C>T p.S745F 10:121483765-121483765 7
32 COSM6962962 EPHA7 skin,neck,carcinoma,NS c.2468G>A p.G823E 6:93254711-93254711 7
33 COSM5918388 EPHA5 skin,neck,carcinoma,NS c.2608G>A p.E870K 4:65348104-65348104 7
34 COSM6962957 EPHA3 skin,neck,carcinoma,NS c.632T>A p.M211K 3:89210338-89210338 7
35 COSM6946976 EPHA3 skin,neck,carcinoma,NS c.533G>A p.G178E 3:89210239-89210239 7
36 COSM6962956 CASP8 skin,neck,carcinoma,NS c.1382C>T p.T461I 2:201286485-201286485 7
37 COSM3713589 CASP8 skin,neck,carcinoma,NS c.1093C>T p.L365F 2:201285055-201285055 7
38 COSM21323 ATM skin,neck,carcinoma,NS c.1009C>T p.R337C 11:108247071-108247071 7
39 COSM6950941 APC skin,neck,carcinoma,NS c.536C>T p.S179F 5:112780794-112780794 7
40 COSM6962953 AKT3 skin,neck,carcinoma,NS c.1164-1G>A p.? 1:243545598-243545598 7
41 COSM6962993 skin,neck,carcinoma,NS c.1619G>A p.G540E 20:42352227-42352227 7
42 COSM1640830 skin,neck,carcinoma,NS c.743G>A p.R248Q 17:7674220-7674220 7
43 COSM6962974 skin,neck,carcinoma,NS c.1231C>T p.P411S 9:8518130-8518130 7
44 COSM6962968 skin,neck,carcinoma,NS c.1736G>A p.S579N 9:8504347-8504347 7
45 COSM6962949 skin,neck,carcinoma,NS c.493C>T p.P165S 1:77966737-77966737 7
46 COSM6962972 skin,neck,carcinoma,NS c.1727G>A p.S576N 9:8504347-8504347 7
47 COSM6962978 skin,neck,carcinoma,NS c.2237C>T p.S746F 10:121483765-121483765 7
48 COSM6962995 skin,neck,carcinoma,NS c.1607C>T p.S536L 20:42352239-42352239 7
49 COSM1350749 skin,neck,carcinoma,NS c.1009C>T p.R337C 11:108247071-108247071 7
50 COSM6962951 skin,neck,carcinoma,NS c.1164-1G>A p.? 1:243545598-243545598 7
Sources

Expression for Pilomatrixoma

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Search GEO for disease gene expression data for Pilomatrixoma.
Sources

Pathways for Pilomatrixoma

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Pathways related to Pilomatrixoma according to KEGG:

37
# 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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Wnt / Hedgehog / Notch 4
11.93 BMP4 CTNNB1 YAP1
2
SMAD Signaling Network 64
11.72 BMP2 BMP4 CTNNB1
3
Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling 65
Show member pathways
 11.72 BMP2 BMP4 CTNNB1
4
Adipogenesis 1
11.62 BMP2 BMP4 CTNNB1
5
Transcription_P53 signaling pathway 22
11.34 BMP2 BMP4 CTNNB1
6
Neural Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.23 BMP2 BMP4 S100B
7
Hippo signaling pathway 37
11.11 BMP2 BMP4 CTNNB1 YAP1
8
Differentiation of white and brown adipocyte 1
10.88 BMP2 BMP4
9
Heart Development 1
10.79 BMP2 BMP4 CTNNB1
10
Cardiomyocyte Differentiation through BMP Receptors 64
10.75 BMP2 BMP4
11
BMP2-WNT4-FOXO1 Pathway in Human Primary Endometrial Stromal Cell Differentiation 1
10.37 BMP2 CTNNB1
Sources

GO Terms for Pilomatrixoma

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.17 BMP2 BMP4 CD36 ENO2 KRT81 MUC1

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.96 BMP4 CTNNB1 S100B YAP1
2 positive regulation of gene expression GO:0010628 9.92 BMP2 BMP4 CD36 CTNNB1
3 positive regulation of apoptotic process GO:0043065 9.85 BMP2 BMP4 CTNNB1 S100B
4 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.82 CD36 CTNNB1 S100B
5 skeletal system development GO:0001501 9.8 BMP2 BMP4 CTNNB1
6 negative regulation of gene expression GO:0010629 9.8 BMP2 BMP4 CD36 CTNNB1
7 positive regulation of MAPK cascade GO:0043410 9.77 BMP2 CD36 CTNNB1
8 positive regulation of bone mineralization GO:0030501 9.67 BMP2 BMP4
9 regulation of canonical Wnt signaling pathway GO:0060828 9.66 CTNNB1 YAP1
10 telencephalon development GO:0021537 9.65 BMP2 BMP4
11 embryonic hindlimb morphogenesis GO:0035116 9.65 BMP4 CTNNB1
12 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.65 BMP2 BMP4
13 vasculature development GO:0001944 9.64 BMP4 CTNNB1
14 cardiac muscle cell differentiation GO:0055007 9.63 BMP2 BMP4
15 renal system development GO:0072001 9.63 BMP4 CTNNB1
16 negative regulation of chondrocyte differentiation GO:0032331 9.61 BMP4 CTNNB1
17 positive regulation of endothelial cell differentiation GO:0045603 9.61 BMP4 CTNNB1
18 positive regulation of osteoblast differentiation GO:0045669 9.61 BMP2 BMP4 CTNNB1
19 epithelial tube branching involved in lung morphogenesis GO:0060441 9.59 BMP4 CTNNB1
20 positive regulation of cartilage development GO:0061036 9.58 BMP2 BMP4
21 anterior/posterior axis specification GO:0009948 9.58 BMP4 CTNNB1
22 cellular response to growth factor stimulus GO:0071363 9.58 BMP2 BMP4 CTNNB1
23 positive regulation of ossification GO:0045778 9.57 BMP2 BMP4
24 smooth muscle cell differentiation GO:0051145 9.56 BMP4 CTNNB1
25 regulation of smooth muscle cell proliferation GO:0048660 9.54 BMP4 CTNNB1
26 odontogenesis of dentin-containing tooth GO:0042475 9.54 BMP2 BMP4 CTNNB1
27 bud elongation involved in lung branching GO:0060449 9.52 BMP4 YAP1
28 telencephalon regionalization GO:0021978 9.51 BMP2 BMP4
29 positive regulation of epithelial to mesenchymal transition GO:0010718 9.5 BMP2 BMP4 CTNNB1
30 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.48 BMP2 BMP4
31 trachea formation GO:0060440 9.46 BMP4 CTNNB1
32 branching involved in ureteric bud morphogenesis GO:0001658 9.43 BMP2 BMP4 CTNNB1
33 mesenchymal cell proliferation involved in ureteric bud development GO:0072138 9.16 BMP2 BMP4
34 BMP signaling pathway involved in heart induction GO:0003130 8.96 BMP2 BMP4
35 positive regulation of branching involved in lung morphogenesis GO:0061047 8.62 BMP4 CTNNB1

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

# 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

Sources for Pilomatrixoma

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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