Basal Cell Carcinoma, Somatic malady

MalaCards: Basal Cell Carcinoma, Somatic, also known as basal cell carcinoma, is related to nevoid basal cell carcinoma syndrome and xeroderma pigmentosum. An important gene associated with Basal Cell Carcinoma, Somatic is PTCH2 (patched 2), and among its related pathways are Hedgehog Signaling in Mammals and CRHR Pathway. The drug fluorouracil and the compound cyclopamine have been mentioned in the context of this disorder. Related mouse phenotypes are digestive/alimentary and limbs/digits/tail.

OMIM: 605462

basal cell carcinoma, somatic 33 basal cell carcinoma 43

Diseases related to basal cell carcinoma, somatic by text searches and GeneDecks gene sharing:

(show top 50)    (show all 81)

id	Related Disease	Score	Top Affiliating Genes
1	nevoid basal cell carcinoma syndrome	35.3	PTCH1, PTCH2, SMO
2	xeroderma pigmentosum	30.3	SMO, PTCH1
3	medulloblastoma	29.7	PTCH1, PTCH2, SMO
4	basal cell carcinoma	28.5	RASA1, PTCH1, SMO
5	nevus	28.4	PTCH1, PTCH2, SMO
6	neuroectodermal tumors	27.4	PTCH1, SMO
7	carcinoma	14.1
8	pallister-hall syndrome	12.2	SMO, PTCH1
9	holoprosencephaly	12.2	PTCH1, SMO
10	alopecia	12.1	PTCH1, PTCH2
11	cerebral primitive neuroectodermal tumor	12.1	PTCH1, SMO
12	nasopharyngitis	11.6	SMO, PTCH1, RASA1
13	lymphocytic leukemia	11.2	SMO, PTCH1, RASA1
14	nodular basal cell carcinoma	9.9
15	squamous cell carcinoma	9.9
16	trichoepithelioma	9.9
17	superficial basal cell carcinoma	9.8
18	morpheaform basal cell carcinoma	9.5
19	pigmented basal cell carcinoma	9.2
20	infiltrative basal cell carcinoma	9.2
21	infundibulocystic basal cell carcinoma	8.9
22	melanoma	8.9
23	vulva basal cell carcinoma	8.7
24	anal margin basal cell carcinoma	8.4
25	basal cell carcinoma, multiple	8.4
26	cystic basal cell carcinoma	8.4
27	external ear basal cell carcinoma	8.4
28	micronodular basal cell carcinoma	8.4
29	scrotum basal cell carcinoma	8.4
30	rombo syndrome	8.1
31	sebaceous basal cell carcinoma	8.1
32	signet ring basal cell carcinoma	8.1
33	sarcomatoid basal cell carcinoma	8.1
34	adenoid basal cell carcinoma	8.1
35	clear cell basal cell carcinoma	8.1
36	follicular basal cell carcinoma	8.1
37	keratosis	8.1
38	metatypical basal cell carcinoma	8.1
39	actinic keratosis	7.8
40	adamantinoid basal cell epithelioma	7.8
41	penis basal cell carcinoma	7.8
42	psoriasis	7.8
43	bazex-dupre-christol syndrome	7.2
44	fibroepithelial basal cell carcinoma	7.2
45	meningioma	7.2
46	breast cancer	7.2
47	basal cell carcinoma 1	7.2
48	basal cell carcinoma 2	7.2
49	basal cell carcinoma 3	7.2
50	basal cell carcinoma 4	7.2

Clinical features from OMIM: 605462

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 fluorouracil

MGI Mouse Phenotypes related to basal cell carcinoma, somatic:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	digestive/alimentary phenotype	MP:0005381	8.5	SMO, PTCH2, PTCH1
2	limbs/digits/tail phenotype	MP:0005371	8.5	PTCH1, RASA1, SMO
3	craniofacial phenotype	MP:0005382	8.2	SMO, PTCH1, RASA1
4	cardiovascular system phenotype	MP:0005385	8.1	RASA1, PTCH1, PTCH2, SMO
5	nervous system phenotype	MP:0003631	7.9	SMO, PTCH2, RASA1, PTCH1

Genes related to basal cell carcinoma, somatic according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	PTCH2	patched 2	11.0
2	SMO	smoothened, frizzled family receptor	11.0
3	PTCH1	patched 1	11.0
4	RASA1	RAS p21 protein activator (GTPase activating protein) 1	11.0

Pathways related to basal cell carcinoma, somatic according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Hedgehog Signaling in Mammals36	9.3	SMO, PTCH2
2	CRHR Pathway36	9.3	PTCH2, SMO
3	Class B/2 (Secretin family receptors)38	9.2	PTCH1, SMO
4	Development_Hedgehog and PTH signaling pathways in bone and cartilage development41	9.1	SMO, PTCH1
5	Development Hedgehog and PTH signaling pathways in bone and cartilage development10	9.1	PTCH1, SMO
6	Wnt / Hedgehog / Notch3	8.8	PTCH2, PTCH1
7	Basal cell carcinoma20	8.7	PTCH2, PTCH1, SMO
8	Hedgehog signaling pathway20	8.7	SMO, PTCH2, PTCH1
9	Molecular Mechanisms of Cancer36	8.7	RASA1, SMO, PTCH2
10	Pathways in cancer20	8.7	PTCH1, SMO, PTCH2

Compounds related to basal cell carcinoma, somatic according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	cyclopamine32	9.0	PTCH1, SMO

Cellular components related to basal cell carcinoma, somatic according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	caveola	GO:005901	9.0	PTCH1, SMO

Biological processes related to basal cell carcinoma, somatic according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	renal system development	GO:072001	9.1	SMO, PTCH1
2	somite development	GO:061053	9.0	SMO, PTCH1
3	smoothened signaling pathway	GO:007224	9.0	SMO, PTCH1
4	cellular response to cholesterol	GO:071397	8.9	PTCH1, SMO
5	negative regulation of smoothened signaling pathway	GO:045879	8.8	PTCH2, PTCH1

Molecular functions related to basal cell carcinoma, somatic according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	hedgehog receptor activity	GO:008158	9.1	PTCH1, PTCH2
2	smoothened binding	GO:005119	9.0	PTCH1, PTCH2
3	hedgehog family protein binding	GO:097108	8.8	PTCH1, PTCH2