MCID: BSL011
MIFTS: 40

Basal Cell Carcinoma, Multiple

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

Aliases & Classifications for Basal Cell Carcinoma, Multiple

MalaCards integrated aliases for Basal Cell Carcinoma, Multiple:

Name: Basal Cell Carcinoma, Multiple 54 30 56 6 74
Multiple Basal Cell Carcinoma 54

Classifications:



External Ids:

UMLS 74 C1854245

Summaries for Basal Cell Carcinoma, Multiple

MalaCards based summary : Basal Cell Carcinoma, Multiple, also known as multiple basal cell carcinoma, is related to basal cell nevus syndrome and basal cell carcinoma. An important gene associated with Basal Cell Carcinoma, Multiple is RASA1 (RAS P21 Protein Activator 1), and among its related pathways/superpathways are G-Beta Gamma Signaling and Pathways in cancer. The drugs Verteporfin and Antihypertensive Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and heart, and related phenotypes are Increased viability and cardiovascular system

Related Diseases for Basal Cell Carcinoma, Multiple

Diseases in the Small Cell Carcinoma family:

Basal Cell Carcinoma 1 Basal Cell Carcinoma 2
Basal Cell Carcinoma 3 Basal Cell Carcinoma 4
Basal Cell Carcinoma 5 Basal Cell Carcinoma 6
Basal Cell Carcinoma 7 Cell Type Cancer
Basal Cell Carcinoma Large Cell Carcinoma
Basal Cell Carcinoma, Multiple

Diseases related to Basal Cell Carcinoma, Multiple via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 basal cell nevus syndrome 29.4 PTCH1 PTCH2 SMO
2 basal cell carcinoma 29.2 PTCH1 PTCH2 RASA1 SMO
3 basal cell carcinoma 1 11.7
4 bazex syndrome 11.7
5 multiple familial trichoepithelioma 11.2
6 focal dermal hypoplasia 10.1
7 tinea capitis 10.1
8 dermatophytosis 10.1
9 myotonic dystrophy 10.1
10 myotonia atrophica 10.1
11 myotonic dystrophy 1 10.0
12 nevus, epidermal 10.0
13 xeroderma pigmentosum, variant type 10.0
14 hypotrichosis 10.0
15 phacomatosis pigmentokeratotica 10.0
16 phakomatosis pigmentokeratotica 10.0
17 albinism, oculocutaneous, type v 9.9 PTCH2 SLC45A2
18 albinism, oculocutaneous, type vii 9.9 PTCH2 SLC45A2
19 pheochromocytoma 9.8
20 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.8
21 cartilage-hair hypoplasia 9.8
22 mycosis fungoides 9.8
23 brooke-spiegler syndrome 9.8
24 nevus comedonicus 9.8
25 acute lymphocytic leukemia 9.8
26 burn scar 9.8
27 leukemia 9.8
28 lymphedema 9.8
29 oculocutaneous albinism 9.8
30 adrenal gland pheochromocytoma 9.8
31 lymphocytic leukemia 9.8
32 rickets 9.8
33 anhidrosis 9.8
34 erysipelas 9.8
35 lymphadenitis 9.8
36 syringoma 9.8
37 keratoacanthoma 9.8
38 merkel cell carcinoma 9.8
39 spindle cell carcinoma 9.8
40 fibroepithelial basal cell carcinoma 9.8
41 adenoid basal cell carcinoma 9.8
42 vulva basal cell carcinoma 9.8
43 human immunodeficiency virus infectious disease 9.8
44 eccrine acrospiroma 9.8
45 learning disability 9.8
46 albinism 9.8
47 inflammatory linear verrucous epidermal nevus 9.8
48 9q22.3 microdeletion 9.8
49 keratocystic odontogenic tumor 9.7 PTCH1 SMO
50 ameloblastoma 9.6 PTCH1 SMO

Graphical network of the top 20 diseases related to Basal Cell Carcinoma, Multiple:



Diseases related to Basal Cell Carcinoma, Multiple

Symptoms & Phenotypes for Basal Cell Carcinoma, Multiple

GenomeRNAi Phenotypes related to Basal Cell Carcinoma, Multiple according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability GR00386-A-1 9.1 CYP1A1 PTCH1 PTCH2 RASA1 SLC45A2 SMO

MGI Mouse Phenotypes related to Basal Cell Carcinoma, Multiple:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.55 CYP1A1 PTCH1 PTCH2 RASA1 SMO
2 digestive/alimentary MP:0005381 9.26 PTCH1 PTCH2 RASA1 SMO
3 muscle MP:0005369 8.92 PTCH1 PTCH2 RASA1 SMO

Drugs & Therapeutics for Basal Cell Carcinoma, Multiple

Drugs for Basal Cell Carcinoma, Multiple (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 86)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verteporfin Approved, Investigational Phase 3 129497-78-5
2 Antihypertensive Agents Phase 3,Phase 2
3 Veratrum Alkaloids Phase 3,Phase 2
4 Photosensitizing Agents Phase 3,Phase 2,Not Applicable
5 Dermatologic Agents Phase 3,Phase 2,Not Applicable
6
Aminolevulinic acid Approved Phase 2,Phase 1,Not Applicable 106-60-5 137
7
Tazarotene Approved, Investigational Phase 2 118292-40-3 5381
8
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
9
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
10
Fluorouracil Approved Phase 1, Phase 2 51-21-8 3385
11
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
12
Itraconazole Approved, Investigational Phase 2 84625-61-6 55283
13
Carboplatin Approved Phase 2 41575-94-4 10339178 38904 498142
14
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
15
Etoposide Approved Phase 2 33419-42-0 36462
16
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
17
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
18
leucovorin Approved Phase 2 58-05-9 143 6006
19
Ipilimumab Approved Phase 2 477202-00-9
20
nivolumab Approved Phase 2 946414-94-4
21
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
22
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
23
Emodepside Investigational, Vet_approved Phase 2 155030-63-0
24 Pharmaceutical Solutions Phase 2,Not Applicable
25 Vitamin B3 Phase 2
26 Vitamins Phase 2,Phase 1,Not Applicable
27 Nicotinic Acids Phase 2
28 Vitamin B9 Phase 2
29 Nutrients Phase 2,Phase 1,Not Applicable
30 Keratolytic Agents Phase 2
31 Micronutrients Phase 2,Phase 1,Not Applicable
32 Vitamin B Complex Phase 2
33 Folate Phase 2
34 Trace Elements Phase 2,Phase 1,Not Applicable
35 Peripheral Nervous System Agents Phase 2
36 Antirheumatic Agents Phase 2
37 Analgesics Phase 2
38 Cyclooxygenase Inhibitors Phase 2
39 Analgesics, Non-Narcotic Phase 2
40 Cyclooxygenase 2 Inhibitors Phase 2
41 Anti-Inflammatory Agents Phase 2
42 Anti-Inflammatory Agents, Non-Steroidal Phase 2
43 Interferon-gamma Phase 1, Phase 2,Phase 2
44 interferons Phase 1, Phase 2
45 Anti-Infective Agents Phase 2,Phase 1
46 Antifungal Agents Phase 2,Phase 1
47 Immunologic Factors Phase 2,Phase 1
48 Immunosuppressive Agents Phase 2,Phase 1
49 Hormones Phase 2,Phase 1,Not Applicable
50 Cytochrome P-450 CYP3A Inhibitors Phase 2

Interventional clinical trials:

(show all 33)
# Name Status NCT ID Phase Drugs
1 Study of Patidegib Topical Gel, 2%, for the Reduction of Disease Burden of Persistently Developing Basal Cell Carcinomas (BCCs) in Subjects With Basal Cell Nevus Syndrome Recruiting NCT03703310 Phase 3 Patidegib Topical Gel, 2%;Patidegib Topical Gel, Vehicle
2 Two Studies to Determine if Verteporfin PDT is Effective & Safe in Treating Multiple Basal Cell Carcinoma of the Skin. Terminated NCT00049959 Phase 3 verteporfin PDT
3 Efficacy, Safety and Tolerability of Topically Applied LDE225 Cream (Hedgehog Pathway Inhibitor) in Adult Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS) Withdrawn NCT03070691 Phase 2, Phase 3 LDE225B;Vehicle
4 A Study of Two Vismodegib Regimens in Participants With Multiple Basal Cell Carcinomas Completed NCT01815840 Phase 2 Vismodegib;Placebo
5 Trial Comparing the Effects of Intermittent Vismodegib vs. PDT in Patients With Multiple Basal Cell Carcinomas Completed NCT01556009 Phase 2 Vismodegib;Aminolevulinic acid %20 topical solution
6 Trial of Patidegib Gel 2%, 4%, and Vehicle to Decrease the Number of Surgically Eligible Basal Cell Carcinomas (BCC) in Gorlin Syndrome Patients Completed NCT02762084 Phase 2 patidegib;vehicle gel
7 A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome Patients Completed NCT00961896 Phase 2 Vehicle;LDE225 0.25%;LDE225 0.75%
8 Topical Tazarotene in Treating Patients With Basal Cell Skin Cancer and Basal Cell Nevus Syndrome on the Chest and Back Completed NCT00783965 Phase 2 tazarotene
9 To Determine The Efficacy and Safety of GDC-0449 in Patients With Basal Cell Nevus Syndrome (BCNS) Completed NCT00957229 Phase 2 GDC-0449
10 Topical Tazarotene in Treating Patients With Basal Cell Skin Cancer and Basal Cell Nevus Syndrome on the Face Completed NCT00489086 Phase 2 tazarotene
11 Efficacy, Safety and Pharmacokinetics of Oral LDE225 in Treatment of Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS) Completed NCT01350115 Phase 2 LDE225;Placebo
12 Celecoxib in Preventing Basal Cell Carcinoma in Patients With Basal Cell Nevus Syndrome Completed NCT00023621 Phase 2 celecoxib
13 A Study of the Efficacy and Safety of ASN-002 in Adult Patients With Low-risk Nodular Basal Cell Carcinoma Completed NCT02550678 Phase 1, Phase 2 5-FU
14 Clinical Trial of Patidegib Gel 2%, 4%, and Vehicle Applied Once or Twice Daily to Decrease the GLI1 Biomarker in Sporadic Nodular Basal Cell Carcinomas Completed NCT02828111 Phase 2 Patidegib;Vehicle gel
15 Open-label Trial of SUBA™-Itraconazole (SUBA-Cap) in Subjects With Basal Cell Carcinoma Nevus Syndrome (BCCNS) Active, not recruiting NCT02354261 Phase 2 SUBA-Itraconazole
16 Combination Chemotherapy in Treating Younger Patients With Newly Diagnosed, Non-metastatic Desmoplastic Medulloblastoma Active, not recruiting NCT02017964 Phase 2 Carboplatin;Cyclophosphamide;Etoposide;Methotrexate;Vincristine Sulfate
17 Nivolumab With Vismodegib in Patients With Basal Cell Nevus Syndrome Not yet recruiting NCT03767439 Phase 2 Vismodegib;Nivolumab;Ipilimumab
18 Study of ASN-002 to Treat Basal Cell Carcinomas (BCCs) in Individuals With Basal Cell Nevus Syndrome (BCNS) Suspended NCT03208296 Phase 1, Phase 2
19 Pilot Study of Sonidegib and Buparlisib in Treating Patients With Advanced or Metastatic Basal Cell Carcinoma Terminated NCT02303041 Phase 2 Buparlisib;Sonidegib
20 Photodynamic Therapy and Vismodegib for Multiple Basal Cell Carcinomas Completed NCT02639117 Phase 1 Vismodegib
21 Topical Sirolimus in Patients With Basal Cell Nevus Syndrome and in Healthy Participants Completed NCT00433485 Phase 1 sirolimus
22 Development of a Nanosecond Pulsed Electric Field System to Treat Skin Cancer Completed NCT01463709 Phase 1
23 Vitamin D and Photodynamic Therapy for Treatment of BCC in BCNS Recruiting NCT03483441 Phase 1 PDT
24 The Evaluation of Oral Acitretin in the Treatment of Psoriasis, Cutaneous Disorders of Keratinization, Multiple Basal Cell Carcinomas and Other Retinoid Responsive Diseases Completed NCT00005660
25 Blue vs Red Light During Levulan Based Photodynamic Therapy in Patients With Basal Cell Nevus Syndrome Completed NCT02157623 Not Applicable Levulan
26 Study of BMS-833923 in Two Specific Patients With Basal Cell Nevus Syndrome Completed NCT02100371 Not Applicable BMS-833923
27 Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk Patients Completed NCT00555633
28 Isotretinoin in Preventing Skin Cancer Completed NCT00025012 Not Applicable isotretinoin
29 Levocarnitine in Treating Patients With Vismodegib-Associated Muscle Spasms Completed NCT01893892 Not Applicable
30 A Clinical Trial of Dermacorder for Detecting Malignant Skin Lesions Completed NCT01014819
31 Vitamin D as a Nutritional Neoadjuvant During Photodynamic Therapy of Basal Cell Carcinoma Recruiting NCT03467789 Not Applicable
32 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
33 A Study to Assess the Effectiveness and Safety of Vismodegib (Erivedge®) in Participants With Advanced Basal Cell Carcinoma (BCC) Active, not recruiting NCT02371967 Vismodegib

Search NIH Clinical Center for Basal Cell Carcinoma, Multiple

Genetic Tests for Basal Cell Carcinoma, Multiple

Genetic tests related to Basal Cell Carcinoma, Multiple:

# Genetic test Affiliating Genes
1 Basal Cell Carcinoma, Multiple 30 PTCH1 PTCH2 RASA1 SMO

Anatomical Context for Basal Cell Carcinoma, Multiple

MalaCards organs/tissues related to Basal Cell Carcinoma, Multiple:

42
Skin, Bone, Heart, Tongue, Adrenal Gland

Publications for Basal Cell Carcinoma, Multiple

Articles related to Basal Cell Carcinoma, Multiple:

(show all 24)
# Title Authors Year
1
Multiple Basal Cell Carcinoma Arising in a Verrucous Epidermal Naevus: Clinical, Histological and Therapeutic Observations. ( 28759100 )
2018
2
Correlates of multiple basal cell carcinoma in a retrospective cohort study: Sex, histologic subtypes, and anatomic distribution. ( 28392289 )
2017
3
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. ( 25394175 )
2015
4
Familial Multiple Basal Cell Carcinoma (Gorlin's Syndrome): A Case Report of a Father and Son. ( 24249904 )
2013
5
Clinical utility gene card for: Gorlin syndrome. ( 21304560 )
2011
6
Simultaneous treatment of multiple basal cell carcinoma lesions. ( 19029050 )
2008
7
Long-term toxic effects of radiations: sarcomatoid carcinoma and multiple basal cell carcinoma of the limbs in chronic radiodermatitis. ( 15803869 )
2005
8
Merkel cell carcinoma and multiple basal cell carcinoma in an African albino woman with HIV infection. ( 15544700 )
2004
9
Onset of multiple basal cell carcinoma 60 years after X-ray treatment for tinea capitis. ( 15096161 )
2004
10
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. ( 15604628 )
2004
11
Nonsyndromic type of hereditary multiple basal cell carcinoma. ( 11078568 )
2000
12
Multiple basal cell carcinoma. A clinical evaluation of risk factors. ( 9534891 )
1998
13
Multiple basal cell carcinoma developing two years after 60Co irradiation. ( 9649688 )
1998
14
Truncal tumor site is associated with high risk of multiple basal cell carcinoma and is influenced by glutathione S-transferase, GSTT1, and cytochrome P450, CYP1A1 genotypes, and their interaction. ( 9077484 )
1997
15
Three cases of multiple basal cell carcinoma arising in port-wine stains previously treated with thorium X. ( 8977700 )
1996
16
Multiple basal cell carcinoma associated with keratoacanthoma. ( 1292252 )
1992
17
Multiple basal cell carcinoma in tropical Australia. ( 1459761 )
1992
18
Benzo(a)pyrene metabolism, DNA-binding and UV-induced repair of DNA damage in cultured skin fibroblasts from a patient with unilateral multiple basal cell carcinoma. ( 2923792 )
1989
19
Multiple basal-cell carcinoma of the vulva. ( 6747076 )
1984
20
Decreased lymphocyte blastogenic responses in patients with multiple basal cell carcinoma. ( 7240477 )
1981
21
Multiple basal cell carcinoma 58 years after X-ray therapy. ( 507882 )
1979
22
Multiple basal cell carcinoma and internal malignant tumors. ( 1130803 )
1975
23
Multiple basal cell carcinoma in a 24-year-old man. ( 5641342 )
1968
24
Unusual case of multiple basal cell carcinoma with metastasis to the parotid lymph gland. ( 5673242 )
1968

Variations for Basal Cell Carcinoma, Multiple

ClinVar genetic disease variations for Basal Cell Carcinoma, Multiple:

6 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTCH1 NM_000264.4(PTCH1): c.3919C> T (p.Pro1307Ser) single nucleotide variant Uncertain significance rs574880967 GRCh37 Chromosome 9, 98209619: 98209619
2 PTCH1 NM_000264.4(PTCH1): c.3919C> T (p.Pro1307Ser) single nucleotide variant Uncertain significance rs574880967 GRCh38 Chromosome 9, 95447337: 95447337
3 PTCH1 NM_000264.4(PTCH1): c.4162G> A (p.Gly1388Arg) single nucleotide variant Uncertain significance rs587778631 GRCh37 Chromosome 9, 98209376: 98209376
4 PTCH1 NM_000264.4(PTCH1): c.4162G> A (p.Gly1388Arg) single nucleotide variant Uncertain significance rs587778631 GRCh38 Chromosome 9, 95447094: 95447094
5 PTCH1 NM_000264.4(PTCH1): c.4051A> G (p.Asn1351Asp) single nucleotide variant Uncertain significance rs786204103 GRCh37 Chromosome 9, 98209487: 98209487
6 PTCH1 NM_000264.4(PTCH1): c.4051A> G (p.Asn1351Asp) single nucleotide variant Uncertain significance rs786204103 GRCh38 Chromosome 9, 95447205: 95447205
7 PTCH1 NM_000264.4(PTCH1): c.2440A> C (p.Asn814His) single nucleotide variant Uncertain significance rs754623561 GRCh37 Chromosome 9, 98229518: 98229518
8 PTCH1 NM_000264.4(PTCH1): c.2440A> C (p.Asn814His) single nucleotide variant Uncertain significance rs754623561 GRCh38 Chromosome 9, 95467236: 95467236
9 PTCH1 NM_000264.4(PTCH1): c.37C> G (p.Arg13Gly) single nucleotide variant Uncertain significance rs779791579 GRCh37 Chromosome 9, 98270607: 98270607
10 PTCH1 NM_000264.4(PTCH1): c.37C> G (p.Arg13Gly) single nucleotide variant Uncertain significance rs779791579 GRCh38 Chromosome 9, 95508325: 95508325
11 RASA1 NM_002890.2(RASA1): c.2131C> T (p.Arg711Ter) single nucleotide variant Pathogenic rs863223718 GRCh37 Chromosome 5, 86672329: 86672329
12 RASA1 NM_002890.2(RASA1): c.2131C> T (p.Arg711Ter) single nucleotide variant Pathogenic rs863223718 GRCh38 Chromosome 5, 87376512: 87376512
13 PTCH1 NM_000264.4(PTCH1): c.2635G> A (p.Asp879Asn) single nucleotide variant Uncertain significance rs750373573 GRCh37 Chromosome 9, 98224206: 98224206
14 PTCH1 NM_000264.4(PTCH1): c.2635G> A (p.Asp879Asn) single nucleotide variant Uncertain significance rs750373573 GRCh38 Chromosome 9, 95461924: 95461924
15 PTCH1 NM_000264.4(PTCH1): c.4043A> G (p.Asn1348Ser) single nucleotide variant Uncertain significance rs371943557 GRCh37 Chromosome 9, 98209495: 98209495
16 PTCH1 NM_000264.4(PTCH1): c.4043A> G (p.Asn1348Ser) single nucleotide variant Uncertain significance rs371943557 GRCh38 Chromosome 9, 95447213: 95447213
17 PTCH1 NM_000264.4(PTCH1): c.2671G> A (p.Gly891Ser) single nucleotide variant Uncertain significance rs570091335 GRCh37 Chromosome 9, 98224170: 98224170
18 PTCH1 NM_000264.4(PTCH1): c.2671G> A (p.Gly891Ser) single nucleotide variant Uncertain significance rs570091335 GRCh38 Chromosome 9, 95461888: 95461888
19 PTCH1 NM_000264.4(PTCH1): c.1989G> C (p.Gln663His) single nucleotide variant Uncertain significance rs753002023 GRCh37 Chromosome 9, 98231294: 98231294
20 PTCH1 NM_000264.4(PTCH1): c.1989G> C (p.Gln663His) single nucleotide variant Uncertain significance rs753002023 GRCh38 Chromosome 9, 95469012: 95469012
21 PTCH1 NM_000264.4(PTCH1): c.181G> A (p.Ala61Thr) single nucleotide variant Uncertain significance rs150069331 GRCh37 Chromosome 9, 98270463: 98270463
22 PTCH1 NM_000264.4(PTCH1): c.181G> A (p.Ala61Thr) single nucleotide variant Uncertain significance rs150069331 GRCh38 Chromosome 9, 95508181: 95508181
23 PTCH1 NM_000264.4(PTCH1): c.1138G> A (p.Glu380Lys) single nucleotide variant Uncertain significance rs772903899 GRCh37 Chromosome 9, 98241359: 98241359
24 PTCH1 NM_000264.4(PTCH1): c.1138G> A (p.Glu380Lys) single nucleotide variant Uncertain significance rs772903899 GRCh38 Chromosome 9, 95479077: 95479077
25 PTCH1 NM_000264.4(PTCH1): c.4024C> T (p.Arg1342Cys) single nucleotide variant Uncertain significance rs781539921 GRCh37 Chromosome 9, 98209514: 98209514
26 PTCH1 NM_000264.4(PTCH1): c.4024C> T (p.Arg1342Cys) single nucleotide variant Uncertain significance rs781539921 GRCh38 Chromosome 9, 95447232: 95447232
27 PTCH1 NM_000264.4(PTCH1): c.3734A> G (p.Gln1245Arg) single nucleotide variant Uncertain significance rs767792734 GRCh37 Chromosome 9, 98211421: 98211421
28 PTCH1 NM_000264.4(PTCH1): c.3734A> G (p.Gln1245Arg) single nucleotide variant Uncertain significance rs767792734 GRCh38 Chromosome 9, 95449139: 95449139
29 PTCH2 NM_003738.4(PTCH2): c.3347C> T (p.Pro1116Leu) single nucleotide variant Uncertain significance rs539161089 GRCh37 Chromosome 1, 45288751: 45288751
30 PTCH2 NM_003738.4(PTCH2): c.3347C> T (p.Pro1116Leu) single nucleotide variant Uncertain significance rs539161089 GRCh38 Chromosome 1, 44823079: 44823079
31 PTCH2 NM_003738.4(PTCH2): c.19C> G (p.Leu7Val) single nucleotide variant Uncertain significance rs1030456781 GRCh37 Chromosome 1, 45308586: 45308586
32 PTCH2 NM_003738.4(PTCH2): c.19C> G (p.Leu7Val) single nucleotide variant Uncertain significance rs1030456781 GRCh38 Chromosome 1, 44842914: 44842914
33 RASA1 NM_002890.2(RASA1): c.656C> G (p.Ser219Ter) single nucleotide variant Pathogenic rs1554044823 GRCh37 Chromosome 5, 86627281: 86627281
34 RASA1 NM_002890.2(RASA1): c.656C> G (p.Ser219Ter) single nucleotide variant Pathogenic rs1554044823 GRCh38 Chromosome 5, 87331464: 87331464
35 PTCH1 NM_000264.4(PTCH1): c.3575G> A (p.Arg1192His) single nucleotide variant Uncertain significance rs762040036 GRCh38 Chromosome 9, 95449298: 95449298
36 PTCH1 NM_000264.4(PTCH1): c.3575G> A (p.Arg1192His) single nucleotide variant Uncertain significance rs762040036 GRCh37 Chromosome 9, 98211580: 98211580
37 PTCH1 NM_000264.4(PTCH1): c.412C> T (p.Arg138Cys) single nucleotide variant Uncertain significance rs139535966 GRCh38 Chromosome 9, 95485857: 95485857
38 PTCH1 NM_000264.4(PTCH1): c.412C> T (p.Arg138Cys) single nucleotide variant Uncertain significance rs139535966 GRCh37 Chromosome 9, 98248139: 98248139
39 PTCH2 NM_003738.4(PTCH2): c.565C> G (p.Leu189Val) single nucleotide variant Uncertain significance rs747885797 GRCh38 Chromosome 1, 44831758: 44831758
40 PTCH2 NM_003738.4(PTCH2): c.565C> G (p.Leu189Val) single nucleotide variant Uncertain significance rs747885797 GRCh37 Chromosome 1, 45297430: 45297430
41 PTCH1 NM_000264.4(PTCH1): c.3908G> T (p.Arg1303Leu) single nucleotide variant Uncertain significance rs779365332 GRCh37 Chromosome 9, 98209630: 98209630
42 PTCH1 NM_000264.4(PTCH1): c.3908G> T (p.Arg1303Leu) single nucleotide variant Uncertain significance rs779365332 GRCh38 Chromosome 9, 95447348: 95447348
43 PTCH1 NM_000264.4(PTCH1): c.901G> A (p.Asp301Asn) single nucleotide variant Uncertain significance rs767601899 GRCh37 Chromosome 9, 98242716: 98242716
44 PTCH1 NM_000264.4(PTCH1): c.901G> A (p.Asp301Asn) single nucleotide variant Uncertain significance rs767601899 GRCh38 Chromosome 9, 95480434: 95480434
45 PTCH1 NM_000264.4(PTCH1): c.2287G> T (p.Val763Phe) single nucleotide variant Uncertain significance rs544963328 GRCh38 Chromosome 9, 95467389: 95467389
46 PTCH1 NM_000264.4(PTCH1): c.2287G> T (p.Val763Phe) single nucleotide variant Uncertain significance rs544963328 GRCh37 Chromosome 9, 98229671: 98229671
47 PTCH2 NM_003738.4(PTCH2): c.109C> T (p.Arg37Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 45307675: 45307675
48 PTCH2 NM_003738.4(PTCH2): c.109C> T (p.Arg37Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 44842003: 44842003
49 PTCH1 NM_000264.4(PTCH1): c.4138G> A (p.Ala1380Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 98209400: 98209400
50 PTCH1 NM_000264.4(PTCH1): c.4138G> A (p.Ala1380Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 95447118: 95447118

Expression for Basal Cell Carcinoma, Multiple

Search GEO for disease gene expression data for Basal Cell Carcinoma, Multiple.

Pathways for Basal Cell Carcinoma, Multiple

Pathways related to Basal Cell Carcinoma, Multiple according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.48 PTCH1 PTCH2 SMO
2 12.3 PTCH1 PTCH2 SMO
3
Show member pathways
11.9 PTCH1 PTCH2 SMO
4
Show member pathways
11.82 PTCH1 PTCH2 SMO
5 11.69 PTCH1 RASA1 SMO
6
Show member pathways
11.24 PTCH1 PTCH2 SMO
7 10.96 PTCH1 SMO
8
Show member pathways
10.32 PTCH1 PTCH2 SMO

GO Terms for Basal Cell Carcinoma, Multiple

Cellular components related to Basal Cell Carcinoma, Multiple according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 caveola GO:0005901 9.16 PTCH1 SMO
2 endocytic vesicle membrane GO:0030666 8.96 PTCH1 SMO
3 ciliary membrane GO:0060170 8.62 PTCH1 SMO

Biological processes related to Basal Cell Carcinoma, Multiple according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 response to organic cyclic compound GO:0014070 9.58 CYP1A1 PTCH1
2 epidermis development GO:0008544 9.58 PTCH1 PTCH2
3 pattern specification process GO:0007389 9.57 PTCH1 SMO
4 vasculogenesis GO:0001570 9.56 RASA1 SMO
5 heart morphogenesis GO:0003007 9.55 PTCH1 SMO
6 dorsal/ventral pattern formation GO:0009953 9.54 PTCH1 SMO
7 digestive tract development GO:0048565 9.52 CYP1A1 SMO
8 embryonic organ development GO:0048568 9.51 PTCH1 SMO
9 negative regulation of smoothened signaling pathway GO:0045879 9.49 PTCH1 PTCH2
10 renal system development GO:0072001 9.48 PTCH1 SMO
11 cell fate determination GO:0001709 9.46 PTCH1 PTCH2
12 cellular response to cholesterol GO:0071397 9.43 PTCH1 SMO
13 somite development GO:0061053 9.4 PTCH1 SMO
14 dorsal/ventral neural tube patterning GO:0021904 9.37 PTCH1 SMO
15 mammary gland epithelial cell differentiation GO:0060644 9.32 PTCH1 SMO
16 commissural neuron axon guidance GO:0071679 9.26 PTCH1 SMO
17 positive regulation of epidermal cell differentiation GO:0045606 9.16 PTCH1 PTCH2
18 smoothened signaling pathway GO:0007224 9.13 PTCH1 PTCH2 SMO
19 epidermal cell fate specification GO:0009957 8.62 PTCH1 PTCH2

Molecular functions related to Basal Cell Carcinoma, Multiple according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 patched binding GO:0005113 9.26 PTCH1 SMO
2 hedgehog family protein binding GO:0097108 9.16 PTCH1 PTCH2
3 hedgehog receptor activity GO:0008158 8.96 PTCH1 PTCH2
4 smoothened binding GO:0005119 8.62 PTCH1 PTCH2

Sources for Basal Cell Carcinoma, Multiple

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
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