MCID: BSL044
MIFTS: 34

Basal Cell Carcinoma, Infundibulocystic

Categories: Cancer diseases, Rare diseases, Skin diseases

Aliases & Classifications for Basal Cell Carcinoma, Infundibulocystic

MalaCards integrated aliases for Basal Cell Carcinoma, Infundibulocystic:

Name: Basal Cell Carcinoma, Infundibulocystic 56 52 71
Basal Cell Carcinoma with Follicular Differentiation 56 52
Infundibulocystic Basal Cell Carcinoma 12 15
Skin Infundibulocystic Basal Cell Carcinoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:4279
OMIM 56 604451
MedGen 41 C1304297
UMLS 71 C1304297

Summaries for Basal Cell Carcinoma, Infundibulocystic

Disease Ontology : 12 A variant of basal cell carcinoma characterized by follicular differentiation.

MalaCards based summary : Basal Cell Carcinoma, Infundibulocystic, also known as basal cell carcinoma with follicular differentiation, is related to basal cell nevus syndrome and erythrokeratoderma ''en cocardes''. An important gene associated with Basal Cell Carcinoma, Infundibulocystic is PHLDA1 (Pleckstrin Homology Like Domain Family A Member 1), and among its related pathways/superpathways is Signaling by Hedgehog. Affiliated tissues include skin, heart and tongue, and related phenotypes are Decreased viability after Maraba virus infection and Decreased viability after Maraba virus infection

More information from OMIM: 604451

Related Diseases for Basal Cell Carcinoma, Infundibulocystic

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 basal cell nevus syndrome 10.6
2 erythrokeratoderma ''en cocardes'' 10.5
3 basal cell carcinoma 10.4
4 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.3
5 eyelid carcinoma 10.3
6 basaloid follicular hamartoma 10.3
7 immune deficiency disease 10.2
8 telangiectasis 10.2
9 keratosis 10.2
10 clear cell acanthoma 10.2
11 acanthoma 10.2
12 rare genetic skin disease 10.2
13 skin benign neoplasm 10.0
14 ellis-van creveld syndrome 9.4 SUFU IQCE EFCAB7
15 skin sarcoma 9.3 SPOUT1 KNSTRN

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



Diseases related to Basal Cell Carcinoma, Infundibulocystic

Symptoms & Phenotypes for Basal Cell Carcinoma, Infundibulocystic

Clinical features from OMIM:

604451

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after Maraba virus infection GR00252-A-1 9.17 GPRASP2 PHLDA1 SUFU
2 Decreased viability after Maraba virus infection GR00252-A-2 9.17 SUFU
3 Decreased viability after Maraba virus infection GR00252-A-3 9.17 GPRASP2 PHLDA1 SUFU

Drugs & Therapeutics for Basal Cell Carcinoma, Infundibulocystic

Search Clinical Trials , NIH Clinical Center for Basal Cell Carcinoma, Infundibulocystic

Genetic Tests for Basal Cell Carcinoma, Infundibulocystic

Anatomical Context for Basal Cell Carcinoma, Infundibulocystic

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

40
Skin, Heart, Tongue

Publications for Basal Cell Carcinoma, Infundibulocystic

Articles related to Basal Cell Carcinoma, Infundibulocystic:

(show all 22)
# Title Authors PMID Year
1
Multiple hereditary infundibulocystic basal cell carcinomas: a genodermatosis different from nevoid basal cell carcinoma syndrome. 61 56
10522671 1999
2
Infundibulocystic basal cell carcinoma: a newly described variant. 61 56
2235986 1990
3
Basaloid follicular hamartoma: solitary and multiple types. 56
1430363 1992
4
A Case of Infundibulocystic Basal Cell Carcinoma Clinically Mimicking a Melanocytic Nevus Associated with Epidermal Cysts. 61
30259892 2018
5
Infundibulocystic basal cell carcinoma of the eyelid. 61
28660686 2017
6
A case of Basaloid Follicular Hamartoma. 61
29227064 2016
7
Multiple Hereditary Infundibulocystic Basal Cell Carcinoma Syndrome Associated With a Germline SUFU Mutation. 61
26677003 2016
8
A Case of Basal Cell Carcinoma with Outer Hair Follicle Sheath Differentiation. 61
26955331 2015
9
Generalized basaloid follicular hamartoma syndrome: a case report and review of the literature. 61
24698936 2015
10
Cytokeratin 20 expression in basaloid follicular hamartoma and infundibulocystic basal cell carcinoma. 61
25353070 2014
11
Infundibulocystic basal cell carcinoma: dermoscopic findings and histologic correlation. 61
25126459 2014
12
Ber-EP4 immunoreactivity in infundibulocystic basal cell carcinoma. 61
24807788 2014
13
Basaloid follicular hamartoma: a case report and review of the literature. 61
22226063 2012
14
Cytokeratin expression patterns in multiple infundibulocystic basal cell carcinoma. 61
19863699 2011
15
Infundibulocystic basal cell carcinoma of the eyelid in basal cell nevus syndrome. 61
20489535 2010
16
Nevoid basal cell carcinoma syndrome or multiple hereditary infundibulocystic basal cell carcinoma syndrome? 61
15583598 2004
17
Multiple infundibulocystic basal cell carcinomas: case report of unique unilateral presentation. 61
12656831 2003
18
Multiple infundibulocystic basal cell carcinomas in association with human immunodeficiency virus. 61
10885410 2000
19
Solitary basaloid follicular hamartoma. 61
9714975 1998
20
Infundibulocystic basal cell carcinoma. 61
9649699 1998
21
Infundibulocystic basaloid neoplasm. 61
8721449 1996
22
Infundibulocystic basal cell carcinoma. 61
8517497 1993

Variations for Basal Cell Carcinoma, Infundibulocystic

Cosmic variations for Basal Cell Carcinoma, Infundibulocystic:

9 (show top 50) (show all 3424)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM149268805 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 3
2 COSM149259613 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 3
3 COSM149268792 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.5825G>A p.G1942E 16:72796857-72796857 3
4 COSM149268800 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 3
5 COSM149304906 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 3
6 COSM149331772 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 3
7 COSM149266372 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 3
8 COSM101976974 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 3
9 COSM87040659 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 3
10 COSM87027025 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 3
11 COSM87028684 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 3
12 COSM90144180 TRAF7 skin,NS,carcinoma,basal cell carcinoma c.1802C>T p.T601I 16:2176104-2176104 3
13 COSM88644633 TP63 skin,NS,carcinoma,basal cell carcinoma c.1922C>T p.A641V 3:189894381-189894381 3
14 COSM87925664 TP53 skin,NS,carcinoma,basal cell carcinoma c.477C>T p.A159= 17:7675135-7675135 3
15 COSM87919454 TP53 skin,NS,carcinoma,basal cell carcinoma c.395A>T p.K132M 17:7675217-7675217 3
16 COSM88272290 TP53 skin,NS,carcinoma,basal cell carcinoma c.480G>C p.M160I 17:7675132-7675132 3
17 COSM87898709 TP53 skin,NS,carcinoma,basal cell carcinoma c.742C>T p.R248W 17:7674221-7674221 3
18 COSM87910628 TP53 skin,NS,carcinoma,basal cell carcinoma c.772G>A p.E258K 17:7674191-7674191 3
19 COSM88387703 TP53 skin,NS,carcinoma,basal cell carcinoma c.781A>T p.S261C 17:7674182-7674182 3
20 COSM87963219 TP53 skin,NS,carcinoma,basal cell carcinoma c.292C>T p.P98S 17:7676077-7676077 3
21 COSM87929396 TP53 skin,NS,carcinoma,basal cell carcinoma c.530C>T p.P177L 17:7675082-7675082 3
22 COSM87898723 TP53 skin,NS,carcinoma,basal cell carcinoma c.817C>T p.R273C 17:7673803-7673803 3
23 COSM88310572 TP53 skin,NS,carcinoma,basal cell carcinoma c.677G>C p.G226A 17:7674286-7674286 3
24 COSM87898714 TP53 skin,NS,carcinoma,basal cell carcinoma c.844C>T p.R282W 17:7673776-7673776 3
25 COSM87898991 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 17:7675077-7675077 3
26 COSM88408340 TP53 skin,NS,carcinoma,basal cell carcinoma c.899C>G p.P300R 17:7673721-7673721 3
27 COSM87906968 TP53 skin,NS,carcinoma,basal cell carcinoma c.833C>T p.P278L 17:7673787-7673787 3
28 COSM87910495 TP53 skin,NS,carcinoma,basal cell carcinoma c.832C>T p.P278S 17:7673788-7673788 3
29 COSM87899497 TP53 skin,NS,carcinoma,basal cell carcinoma c.586C>T p.R196* 17:7674945-7674945 3
30 COSM87906130 TP53 skin,NS,carcinoma,basal cell carcinoma c.854A>T p.E285V 17:7673766-7673766 3
31 COSM87919200 TP53 skin,NS,carcinoma,basal cell carcinoma c.511G>C p.E171Q 17:7675101-7675101 3
32 COSM87944274 TP53 skin,NS,carcinoma,basal cell carcinoma c.419C>T p.T140I 17:7675193-7675193 3
33 COSM87921224 TP53 skin,NS,carcinoma,basal cell carcinoma c.835G>A p.G279R 17:7673785-7673785 3
34 COSM87898567 TP53 skin,NS,carcinoma,basal cell carcinoma c.748C>T p.P250S 17:7674215-7674215 3
35 COSM87900980 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 17:7673781-7673781 3
36 COSM87947692 TP53 skin,NS,carcinoma,basal cell carcinoma c.770T>C p.L257P 17:7674193-7674193 3
37 COSM87957813 TP53 skin,NS,carcinoma,basal cell carcinoma c.737T>G p.M246R 17:7674226-7674226 3
38 COSM87904406 TP53 skin,NS,carcinoma,basal cell carcinoma c.796G>A p.G266R 17:7673824-7673824 3
39 COSM87917387 TP53 skin,NS,carcinoma,basal cell carcinoma c.746G>C p.R249T 17:7674217-7674217 3
40 COSM87932688 TP53 skin,NS,carcinoma,basal cell carcinoma c.507G>A p.M169I 17:7675105-7675105 3
41 COSM87903307 TP53 skin,NS,carcinoma,basal cell carcinoma c.841G>A p.D281N 17:7673779-7673779 3
42 COSM87905687 TP53 skin,NS,carcinoma,basal cell carcinoma c.955A>G p.K319E 17:7673573-7673573 3
43 COSM87899661 TP53 skin,NS,carcinoma,basal cell carcinoma c.797G>A p.G266E 17:7673823-7673823 3
44 COSM87908365 TP53 skin,NS,carcinoma,basal cell carcinoma c.454C>T p.P152S 17:7675158-7675158 3
45 COSM87961406 TP53 skin,NS,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 3
46 COSM87918616 TP53 skin,NS,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 3
47 COSM87897745 TP53 skin,NS,carcinoma,basal cell carcinoma c.524G>A p.R175H 17:7675088-7675088 3
48 COSM87911563 TP53 skin,NS,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 3
49 COSM87922049 TP53 skin,NS,carcinoma,basal cell carcinoma c.713G>T p.C238F 17:7674250-7674250 3
50 COSM87898431 TP53 skin,NS,carcinoma,basal cell carcinoma c.451C>T p.P151S 17:7675161-7675161 3

Expression for Basal Cell Carcinoma, Infundibulocystic

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

Pathways for Basal Cell Carcinoma, Infundibulocystic

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.34 SUFU IQCE EFCAB7

GO Terms for Basal Cell Carcinoma, Infundibulocystic

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

# Name GO ID Score Top Affiliating Genes
1 kinetochore GO:0000776 9.32 SPOUT1 KNSTRN
2 condensed chromosome kinetochore GO:0000777 9.26 SPOUT1 KNSTRN
3 mitotic spindle GO:0072686 9.16 SPOUT1 KNSTRN
4 cilium GO:0005929 9.13 SUFU IQCE EFCAB7
5 ciliary membrane GO:0060170 8.62 IQCE EFCAB7

Sources for Basal Cell Carcinoma, Infundibulocystic

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