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PTR
MCID: PLM026
MIFTS: 54

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

About this section

MalaCards integrated aliases for Pilomatrixoma:

Name: Pilomatrixoma 58 12 54 26 60 76 30 6 45 15 41 17 74
Pilomatricoma 58 12 54 26 60 38 56
Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas 58 13 6
Ptr 58 54 76
Epithelioma Calcificans of Malherbe 58 60
Calcifying Epithelioma of Malherbe 54 26
Benign Pilomatricoma 12 26
Malherbe Calcifying Epithelioma 26
Pilomatricoma, Somatic 58
Benign Pilomatrixoma 26
Pilomatricoma; Ptr 58

Characteristics:

Orphanet epidemiological data:

60
pilomatrixoma
Inheritance: Not applicable; Age of onset: Adolescent,Adult,Childhood;

OMIM:

58
Inheritance:
somatic mutation


HPO:

33
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: 35
Orphanet: 60  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:5374
OMIM 58 132600
KEGG 38 H00947
MeSH 45 D018296
NCIt 51 C7368
SNOMED-CT 69 44155009
MESH via Orphanet 46 D018296
ICD10 via Orphanet 35 D23.3 D23.4 D23.6
UMLS via Orphanet 75 C0206711
Orphanet 60 ORPHA91414
MedGen 43 C0206711
UMLS 74 C0206711
Sources

Summaries for Pilomatrixoma

About this section
NIH Rare Diseases : 54 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, pituitary and bone, and related phenotypes are neoplasm of the skin and pilomatrixoma

Genetics Home Reference : 26 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 : 76 Pilomatrixoma: Common benign skin tumor.

Wikipedia : 77 Pilomatricoma, is a benign skin tumor derived from the hair matrix. These neoplasms are relatively... 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 152)
# Related Disease Score Top Affiliating Genes
1 pilomatrix carcinoma 30.4 ENO2 MUC1 TCHH
2 epidermoid cysts 29.8 S100A3 S100B TCHH
3 skin pilomatrix carcinoma 12.0
4 tetralogy of fallot 10.8
5 multiple sclerosis 10.7
6 goblet cell carcinoid 10.4 CTNNB1 ENO2
7 clear cell adenoma 10.3 CTNNB1 S100B
8 bednar tumor 10.3 ENO2 S100B
9 middle cerebral artery infarction 10.3 ENO2 S100B
10 papillary ependymoma 10.3 ENO2 S100B
11 head injury 10.3 ENO2 S100B
12 adenomyoma 10.3 CTNNB1 MUC1
13 sinonasal undifferentiated carcinoma 10.3 ENO2 MUC1
14 pineocytoma 10.3 ENO2 S100B
15 papillary tumor of the pineal region 10.3 ENO2 MUC1
16 middle ear adenoma 10.3 ENO2 MUC1
17 microcystic adenoma 10.3 ENO2 MUC1
18 localized hypertrophic neuropathy 10.3 MUC1 S100B
19 sclerosing perineurioma 10.3 MUC1 S100B
20 perineurioma 10.3 MUC1 S100B
21 reticular perineurioma 10.3 MUC1 S100B
22 clear cell ependymoma 10.3 ENO2 MUC1
23 non-functioning pituitary adenoma 10.3 MUC1 S100B
24 functioning pituitary adenoma 10.3 MUC1 S100B
25 myotonia 10.3
26 syringocystadenoma papilliferum 10.3 MUC1 S100B
27 lobular neoplasia 10.3 CTNNB1 MUC1
28 fibrous meningioma 10.3 MUC1 S100B
29 chordoid meningioma 10.3 MUC1 S100B
30 eccrine porocarcinoma 10.3 MUC1 S100B
31 spindle cell rhabdomyosarcoma 10.3 MUC1 S100B
32 aggressive digital papillary adenocarcinoma 10.3 MUC1 S100B
33 myxopapillary ependymoma 10.3 MUC1 S100B
34 monophasic synovial sarcoma 10.3 MUC1 S100B
35 sclerosing hemangioma 10.3 CTNNB1 MUC1
36 desmoplastic small round cell tumor 10.3 ENO2 MUC1
37 granular cell tumor 10.3 ENO2 S100B
38 mucinous ovarian cystadenoma 10.3 ENO2 MUC1
39 chordoid glioma 10.3 MUC1 S100B
40 embryonal sarcoma 10.3 CTNNB1 S100B
41 spiradenoma 10.3 MUC1 S100B
42 syringoma 10.3 MUC1 S100B
43 extraskeletal ewing sarcoma 10.2 ENO2 MUC1
44 myxofibrosarcoma 10.2 CD36 S100B
45 spondylosis 10.2 ENO2 S100B
46 pleomorphic liposarcoma 10.2 MUC1 S100B
47 lymphoepithelioma-like carcinoma 10.2 ENO2 MUC1
48 anaplastic ependymoma 10.2 MUC1 S100B
49 subependymal giant cell astrocytoma 10.2 ENO2 S100B
50 papilloma of choroid plexus 10.2 MUC1 S100B

Graphical network of the top 20 diseases related to Pilomatrixoma:



Diseases related to Pilomatrixoma
Sources

Symptoms & Phenotypes for Pilomatrixoma

About this section

Human phenotypes related to Pilomatrixoma:

33
# Description HPO Frequency HPO Source Accession
1 neoplasm of the skin 33 HP:0008069
2 pilomatrixoma 33 HP:0030434

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Pilomatrixoma:

47
# 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

About this section

Genetic tests related to Pilomatrixoma:

# Genetic test Affiliating Genes
1 Pilomatrixoma 30 CTNNB1 MUTYH
Sources

Anatomical Context for Pilomatrixoma

About this section

MalaCards organs/tissues related to Pilomatrixoma:

42
Skin, Pituitary, Bone, Ovary, Cortex, Brain, Pineal
Sources

Publications for Pilomatrixoma

About this section

Articles related to Pilomatrixoma:

(show top 50) (show all 513)
# Title Authors Year
1
Patient Perspectives: What is a pilomatricoma? ( 30675939 )
2019
2
Giant pilomatricoma on the upper back. ( 30719991 )
2019
3
Epidermal Cyst on the Face of a Child, Clinically and Dermoscopically Mimicking Pilomatricoma. ( 30775146 )
2019
4
Neurosis and true dermatosis: a case of ossified pilomatricoma developing within a self-inflicted ulcer. ( 30865412 )
2019
5
Preauricular Pilomatricoma Manifesting as an Aggressive Mass. ( 30918611 )
2019
6
Colossal pilomatrixoma. ( 29182000 )
2018
7
Fine needle aspiration of pilomatrixoma: Cytologic features on thinprep and diagnostic pitfalls. ( 29464894 )
2018
8
Rare case of pilomatrixoma of the lower eyelid following blunt trauma. ( 29763996 )
2018
9
Pilomatrixoma: A Comprehensive Review of the Literature. ( 30119102 )
2018
10
A new case of the pilomatrixoma rare in the preauricular region and review of series of cases. ( 30284072 )
2018
11
Aggressive metastatic malignant pilomatrixoma followed by 18F-FDG PET/CT. ( 30424974 )
2018
12
Pilomatrixoma Masquerading as Giant Chalazion. ( 30454715 )
2018
13
Calcifying epithelioma of malherbe (Pilomatrixoma): Clinical and sonographic features. ( 28677820 )
2018
14
Coexistence of keloids and pilomatricoma in a patient with Rubinstein-Taybi syndrome. ( 29469775 )
2018
15
Pilomatricoma: An unusual cause of lump in a male breast. ( 28555882 )
2018
16
Slowly growing mass on the left shoulder. Pilomatricoma. ( 28852770 )
2018
17
Proliferating Pilomatricoma Mimicking a Malignant Tumor. ( 29106839 )
2018
18
Importance of Individual Ghost Cells in Fine-Needle Aspiration Cytology Diagnosis of Pilomatricoma. ( 29370510 )
2018
19
Giant Pilomatricoma Arising as a Rapidly Growing Vascularized Tumor in a Child. ( 29533276 )
2018
20
Pilomatricoma with bullous-like/anetodermic appearance: Possibly associated with matrix metalloproteinases. ( 29682830 )
2018
21
Early Stage of Pilomatricoma with an Empty Cyst Cavity and Unusual Clinical Appearance. ( 29946220 )
2018
22
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
23
Pilomatricoma (calcifying epithelioma): MDCT and MR imaging findings in 31 patients with radiological-pathological correlation. ( 30150057 )
2018
24
Cytopathological findings of proliferating pilomatricoma misdiagnosed as a malignant parotid gland tumor. ( 30153836 )
2018
25
A patient with pilomatricoma in the parotid region: case report and review of the literature. ( 30534834 )
2018
26
Malignant pilomatricoma of the cheek in an infant. ( 30613091 )
2018
27
A Case of Exophytic Pilomatricoma Clinically Resembling Keratoacanthoma. ( 28392667 )
2017
28
Pilomatrixoma of the Neck/Shoulder Region Mimicking a Rapidly Growing Neoplasm of Peripheral Nerve Sheath Origin in Neurofibromatosis Type 1. ( 29187472 )
2017
29
Pilomatrixoma located on the cruris: an uncommon localization. ( 28690776 )
2017
30
Pilomatrixoma or a "hair line fracture". ( 28657285 )
2017
31
Eyelid pilomatrixoma masquerading as chalazion. ( 28457306 )
2017
32
Metastatic endometrial endometrioid carcinoma mimicking pilomatrixoma of the distal vagina. ( 28130284 )
2017
33
Parotid cyst due to sialolithiasis masquerading as pilomatrixoma on FNA. ( 27943427 )
2017
34
Metastatic Malignant Pilomatrixoma in an 8-Year-Old Girl Misdiagnosed as a Recurrent Pilomatrixoma. ( 27673386 )
2017
35
Ulcerated giant pilomatricoma with appearance of cutaneous malignancy on positron emission tomography/computed tomography. ( 27207071 )
2017
36
Giant proliferating pilomatricoma; report of a rare entity. ( 27301983 )
2017
37
Pilomatricoma Associated with Kabuki Syndrome. ( 27778401 )
2017
38
Preauricular pilomatricoma: An uncommon entity in a dental pediatric patient. ( 27907820 )
2017
39
Anetodermic pilomatricoma: clinical, histopathologic, and sonographic findings. ( 28329524 )
2017
40
Punch and Scoop Technique for Removing Pilomatricoma. ( 28783214 )
2017
41
Malignant pilomatricoma in a dog with local and distant metastases treated with chemotherapy and bisphosphonates. ( 28795016 )
2017
42
Malignant Pilomatricoma: A Report of Two Cases and Review of Literature. ( 28892916 )
2017
43
Updated view on epidemiology and clinical aspects of pilomatricoma in adults. ( 28895117 )
2017
44
Proliferative pilomatricoma of the eyebrow in a 94-year-old patient. ( 29236266 )
2017
45
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
46
Pilomatricoma presenting with localized alopecia. ( 27121998 )
2016
47
A Rare Case of Pilomatrixoma (Calcifying Epithelioma of Malherbe) of Parotid Space Masquerading as Salivary Gland Tumor. ( 28855935 )
2016
48
Pilomatrixoma of the breast in a patient with type 1 myotonic dystrophy: successful surgical approach. ( 27373126 )
2016
49
Dermoid Cyst of Submental Region Mimicking Pilomatricoma. ( 27408466 )
2016
50
A Rapidly Enlarging Recurrent Eyebrow Pilomatrixoma in a Nonagenarian. ( 25514663 )
2016
Sources

Variations for Pilomatrixoma

About this section

UniProtKB/Swiss-Prot genetic disease variations for Pilomatrixoma:

76
# 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 top 50) (show all 53)
# 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.1493A> G (p.Gln498Arg) single nucleotide variant Uncertain significance rs587780085 GRCh37 Chromosome 1, 45796213: 45796213
27 MUTYH NM_001128425.1(MUTYH): c.1493A> G (p.Gln498Arg) single nucleotide variant Uncertain significance rs587780085 GRCh38 Chromosome 1, 45330541: 45330541
28 MUTYH NM_001128425.1(MUTYH): c.55C> T (p.Arg19Ter) single nucleotide variant Pathogenic rs587780088 GRCh37 Chromosome 1, 45800165: 45800165
29 MUTYH NM_001128425.1(MUTYH): c.55C> T (p.Arg19Ter) single nucleotide variant Pathogenic rs587780088 GRCh38 Chromosome 1, 45334493: 45334493
30 MUTYH NM_001128425.1(MUTYH): c.572G> A (p.Arg191Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs369677603 GRCh37 Chromosome 1, 45798439: 45798439
31 MUTYH NM_001128425.1(MUTYH): c.572G> A (p.Arg191Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs369677603 GRCh38 Chromosome 1, 45332767: 45332767
32 MUTYH NM_001128425.1(MUTYH): c.985G> A (p.Val329Met) single nucleotide variant Conflicting interpretations of pathogenicity rs147718169 GRCh37 Chromosome 1, 45797707: 45797707
33 MUTYH NM_001128425.1(MUTYH): c.985G> A (p.Val329Met) single nucleotide variant Conflicting interpretations of pathogenicity rs147718169 GRCh38 Chromosome 1, 45332035: 45332035
34 MUTYH NM_001128425.1(MUTYH): c.1255G> A (p.Ala419Thr) single nucleotide variant Uncertain significance rs587780744 GRCh37 Chromosome 1, 45797160: 45797160
35 MUTYH NM_001128425.1(MUTYH): c.1255G> A (p.Ala419Thr) single nucleotide variant Uncertain significance rs587780744 GRCh38 Chromosome 1, 45331488: 45331488
36 MUTYH NM_001128425.1(MUTYH): c.734G> A (p.Arg245His) single nucleotide variant Pathogenic/Likely pathogenic rs140342925 GRCh37 Chromosome 1, 45798117: 45798117
37 MUTYH NM_001128425.1(MUTYH): c.734G> A (p.Arg245His) single nucleotide variant Pathogenic/Likely pathogenic rs140342925 GRCh38 Chromosome 1, 45332445: 45332445
38 MUTYH NM_001128425.1(MUTYH): c.1187-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs587781628 GRCh37 Chromosome 1, 45797230: 45797230
39 MUTYH NM_001128425.1(MUTYH): c.1187-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs587781628 GRCh38 Chromosome 1, 45331558: 45331558
40 MUTYH NM_001128425.1(MUTYH): c.347G> A (p.Arg116Gln) single nucleotide variant Uncertain significance rs587782683 GRCh37 Chromosome 1, 45799086: 45799086
41 MUTYH NM_001128425.1(MUTYH): c.347G> A (p.Arg116Gln) single nucleotide variant Uncertain significance rs587782683 GRCh38 Chromosome 1, 45333414: 45333414
42 MUTYH NM_001128425.1(MUTYH): c.932G> A (p.Arg311Lys) single nucleotide variant Uncertain significance rs149342980 GRCh38 Chromosome 1, 45332167: 45332167
43 MUTYH NM_001128425.1(MUTYH): c.932G> A (p.Arg311Lys) single nucleotide variant Uncertain significance rs149342980 GRCh37 Chromosome 1, 45797839: 45797839
44 MUTYH NM_001128425.1(MUTYH): c.1000C> G (p.Pro334Ala) single nucleotide variant Uncertain significance rs587778537 GRCh38 Chromosome 1, 45331847: 45331847
45 MUTYH NM_001128425.1(MUTYH): c.1000C> G (p.Pro334Ala) single nucleotide variant Uncertain significance rs587778537 GRCh37 Chromosome 1, 45797519: 45797519
46 CTNNB1 NM_001904.3(CTNNB1): c.283C> T (p.Arg95Ter) single nucleotide variant Pathogenic rs775104326 GRCh37 Chromosome 3, 41266486: 41266486
47 CTNNB1 NM_001904.3(CTNNB1): c.283C> T (p.Arg95Ter) single nucleotide variant Pathogenic rs775104326 GRCh38 Chromosome 3, 41224995: 41224995
48 CTNNB1 NM_001904.3(CTNNB1): c.100G> A (p.Gly34Arg) single nucleotide variant Likely pathogenic rs121913399 GRCh37 Chromosome 3, 41266103: 41266103
49 CTNNB1 NM_001904.3(CTNNB1): c.100G> A (p.Gly34Arg) single nucleotide variant Likely pathogenic rs121913399 GRCh38 Chromosome 3, 41224612: 41224612
50 CTNNB1 NM_001904.3(CTNNB1): c.100G> C (p.Gly34Arg) single nucleotide variant Likely pathogenic rs121913399 GRCh37 Chromosome 3, 41266103: 41266103

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 COSM6927263 TSC1 skin,scalp,carcinoma,NS c.2204C>T p.A735V 9:132903655-132903655 0
2 COSM44097 TP53 skin,face,carcinoma,NS c.530C>T p.P177L 17:7675082-7675082 0
3 COSM45074 TP53 skin,arm,carcinoma,NS c.829T>G p.C277G 17:7673791-7673791 0
4 COSM10705 TP53 skin,face,carcinoma,NS c.586C>T p.R196* 17:7674945-7674945 0
5 COSM44225 TP53 skin,arm,carcinoma,NS c.859G>A p.E287K 17:7673761-7673761 0
6 COSM44295 TP53 skin,face,carcinoma,NS c.993+1G>A p.? 17:7673534-7673534 0
7 COSM10939 TP53 skin,face,carcinoma,NS c.832C>T p.P278S 17:7673788-7673788 0
8 COSM43544 TP53 skin,face,carcinoma,NS c.260C>A p.P87Q 17:7676109-7676109 0
9 COSM10656 TP53 skin,arm,carcinoma,NS c.742C>T p.R248W 17:7674221-7674221 0
10 COSM44326 TP53 skin,face,carcinoma,NS c.706T>C p.Y236H 17:7674257-7674257 0
11 COSM10662 TP53 skin,face,carcinoma,NS c.743G>A p.R248Q 17:7674220-7674220 0
12 COSM45774 TP53 skin,arm,carcinoma,NS c.899C>G p.P300R 17:7673721-7673721 0
13 COSM11449 TP53 skin,face,carcinoma,NS c.388C>T p.L130F 17:7675224-7675224 0
14 COSM43753 TP53 skin,lower leg,carcinoma,NS c.560-1G>A p.? 17:7674972-7674972 0
15 COSM44068 TP53 skin,face,carcinoma,NS c.532C>A p.H178N 17:7675080-7675080 0
16 COSM44135 TP53 skin,scalp,carcinoma,NS c.724T>G p.C242G 17:7674239-7674239 0
17 COSM44218 TP53 skin,lower leg,carcinoma,NS c.536A>C p.H179P 17:7675076-7675076 0
18 COSM10654 TP53 skin,face,carcinoma,NS c.637C>T p.R213* 17:7674894-7674894 0
19 COSM10863 TP53 skin,lower leg,carcinoma,NS c.833C>T p.P278L 17:7673787-7673787 0
20 COSM10889 TP53 skin,lower leg,carcinoma,NS c.536A>G p.H179R 17:7675076-7675076 0
21 COSM44832 TP53 skin,arm,carcinoma,NS c.1096T>G p.S366A 17:7670613-7670613 0
22 COSM45830 TP53 skin,face,carcinoma,NS c.766A>C p.T256P 17:7674197-7674197 0
23 COSM10812 TP53 skin,face,carcinoma,NS c.722C>T p.S241F 17:7674241-7674241 0
24 COSM44495 TP53 skin,scalp,carcinoma,NS c.559+2T>A p.? 17:7675051-7675051 0
25 COSM10726 TP53 skin,face,carcinoma,NS c.856G>A p.E286K 17:7673764-7673764 0
26 COSM44140 TP53 skin,scalp,carcinoma,NS c.596G>T p.G199V 17:7674935-7674935 0
27 COSM10995 TP53 skin,lower leg,carcinoma,NS c.580C>T p.L194F 17:7674951-7674951 0
28 COSM10992 TP53 skin,face,carcinoma,NS c.844C>G p.R282G 17:7673776-7673776 0
29 COSM45304 TP53 skin,face,carcinoma,NS c.375+1G>A p.? 17:7675993-7675993 0
30 COSM44398 TP53 skin,lower leg,carcinoma,NS c.682G>A p.D228N 17:7674281-7674281 0
31 COSM44523 TP53 skin,lower leg,carcinoma,NS c.863A>G p.N288S 17:7673757-7673757 0
32 COSM10659 TP53 skin,scalp,carcinoma,NS c.817C>T p.R273C 17:7673803-7673803 0
33 COSM43588 TP53 skin,face,carcinoma,NS c.740A>C p.N247T 17:7674223-7674223 0
34 COSM11081 TP53 skin,face,carcinoma,NS c.733G>T p.G245C 17:7674230-7674230 0
35 COSM11073 TP53 skin,face,carcinoma,NS c.1024C>T p.R342* 17:7670685-7670685 0
36 COSM43582 TP53 skin,face,carcinoma,NS c.454C>T p.P152S 17:7675158-7675158 0
37 COSM44544 TP53 skin,scalp,carcinoma,NS c.766A>G p.T256A 17:7674197-7674197 0
38 COSM45733 TP53 skin,face,carcinoma,NS c.432G>A p.Q144Q 17:7675180-7675180 0
39 COSM10704 TP53 skin,face,carcinoma,NS c.844C>T p.R282W 17:7673776-7673776 0
40 COSM43700 TP53 skin,face,carcinoma,NS c.712T>A p.C238S 17:7674251-7674251 0
41 COSM10733 TP53 skin,face,carcinoma,NS c.574C>T p.Q192* 17:7674957-7674957 0
42 COSM44227 TP53 skin,face,carcinoma,NS c.854A>T p.E285V 17:7673766-7673766 0
43 COSM10768 TP53 skin,face,carcinoma,NS c.535C>T p.H179Y 17:7675077-7675077 0
44 COSM11066 TP53 skin,scalp,carcinoma,NS c.578A>T p.H193L 17:7674953-7674953 0
45 COSM43651 TP53 skin,face,carcinoma,NS c.763A>T p.I255F 17:7674200-7674200 0
46 COSM6903923 TP53 skin,scalp,carcinoma,NS c.356C>T p.A119V 17:7676013-7676013 0
47 COSM44435 TP53 skin,face,carcinoma,NS c.96+1G>A p.? 17:7676381-7676381 0
48 COSM10731 TP53 skin,lower leg,carcinoma,NS c.707A>G p.Y236C 17:7674256-7674256 0
49 COSM43952 TP53 skin,scalp,carcinoma,NS c.710T>A p.M237K 17:7674253-7674253 0
50 COSM44023 TP53 skin,scalp,carcinoma,NS c.560G>A p.G187D 17:7674971-7674971 0
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:

38
# 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 Signaling Pathways: beta-Catenin-dependent Wnt Signaling 66
Show member pathways
 12.03 BMP2 BMP4 CTNNB1
2
Wnt / Hedgehog / Notch 4
11.93 BMP4 CTNNB1 YAP1
3
SMAD Signaling Network 65
11.72 BMP2 BMP4 CTNNB1
4
Adipogenesis 1
11.62 BMP2 BMP4 CTNNB1
5
Transcription_P53 signaling pathway 23
11.34 BMP2 BMP4 CTNNB1
6
Neural Stem Cell Differentiation Pathways and Lineage-specific Markers 66
11.23 BMP2 BMP4 S100B
7
Hippo signaling pathway 38
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 65
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 negative regulation of chondrocyte differentiation GO:0032331 9.61 BMP4 CTNNB1
16 positive regulation of endothelial cell differentiation GO:0045603 9.61 BMP4 CTNNB1
17 positive regulation of osteoblast differentiation GO:0045669 9.61 BMP2 BMP4 CTNNB1
18 epithelial tube branching involved in lung morphogenesis GO:0060441 9.59 BMP4 CTNNB1
19 positive regulation of cartilage development GO:0061036 9.58 BMP2 BMP4
20 anterior/posterior axis specification GO:0009948 9.58 BMP4 CTNNB1
21 cellular response to growth factor stimulus GO:0071363 9.58 BMP2 BMP4 CTNNB1
22 positive regulation of ossification GO:0045778 9.57 BMP2 BMP4
23 smooth muscle cell differentiation GO:0051145 9.56 BMP4 CTNNB1
24 regulation of smooth muscle cell proliferation GO:0048660 9.54 BMP4 CTNNB1
25 odontogenesis of dentin-containing tooth GO:0042475 9.54 BMP2 BMP4 CTNNB1
26 bud elongation involved in lung branching GO:0060449 9.52 BMP4 YAP1
27 telencephalon regionalization GO:0021978 9.51 BMP2 BMP4
28 positive regulation of epithelial to mesenchymal transition GO:0010718 9.5 BMP2 BMP4 CTNNB1
29 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.48 BMP2 BMP4
30 trachea formation GO:0060440 9.46 BMP4 CTNNB1
31 branching involved in ureteric bud morphogenesis GO:0001658 9.43 BMP2 BMP4 CTNNB1
32 renal system development GO:0072001 9.33 BMP4
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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