MCID: BSL044
MIFTS: 33

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 57 53 73
Basal Cell Carcinoma with Follicular Differentiation 57 53
Infundibulocystic Basal Cell Carcinoma 12 15
Skin Infundibulocystic Basal Cell Carcinoma 12

Classifications:



External Ids:

OMIM 57 604451
Disease Ontology 12 DOID:4279
MedGen 42 C1304297
UMLS 73 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 carcinoma and basal cell carcinoma 1. An important gene associated with Basal Cell Carcinoma, Infundibulocystic is SUFU (SUFU Negative Regulator Of Hedgehog Signaling), and among its related pathways/superpathways are Developmental Biology and Circadian entrainment. Affiliated tissues include skin, kidney and liver, and related phenotype is pigmentation.

Description 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 top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 basal cell carcinoma 29.5 KRT10 KRT14 KRT17 KRT20 PHLDA1 SUFU
2 basal cell carcinoma 1 10.4
3 acanthoma 10.1 KRT10 KRT17
4 basal cell nevus syndrome 10.1
5 keratosis 10.1
6 basaloid follicular hamartoma 10.1
7 eccrine acrospiroma 10.1 KRT10 KRT17
8 steatocystoma multiplex 10.1 KRT10 KRT17
9 bowen's disease 10.1 KRT10 KRT17
10 nodular hidradenoma 10.1 KRT10 PTGER4
11 keratosis, seborrheic 10.1 KRT10 KRT17
12 keratoacanthoma 10.1 KRT10 KRT17
13 pachyonychia congenita 1 10.1 KRT10 KRT17
14 breast squamous cell carcinoma 10.0 KRT10 KRT14
15 epidermolysis bullosa simplex 10.0 KRT10 KRT14
16 epidermolysis bullosa simplex with mottled pigmentation 10.0 KRT10 KRT14
17 pregnancy adenoma 10.0 KRT14 KRT17
18 basaloid squamous cell carcinoma 10.0 KRT14 KRT17
19 pericardial mesothelioma 10.0 KRT10 PTGER4
20 striate palmoplantar keratoderma 10.0 KRT10 KRT14
21 pre-malignant neoplasm 10.0 KRT14 KRT17
22 epidermolysis bullosa simplex, dowling-meara type 10.0 KRT10 KRT14
23 hidradenitis suppurativa 10.0 KRT10 KRT14
24 hidradenitis 10.0 KRT10 KRT14
25 intraneural perineurioma 10.0 KRT10 KRT14
26 pinguecula 10.0 KRT10 KRT14
27 white sponge nevus 1 10.0 KRT10 KRT14
28 palmoplantar keratoderma, epidermolytic 10.0 KRT10 KRT14
29 in situ carcinoma 10.0 KRT14 KRT17
30 ampulla of vater adenocarcinoma 10.0 KRT17 KRT20
31 infiltrative basal cell carcinoma 10.0 KRT17 KRT20
32 ovarian mucinous neoplasm 10.0 KRT17 KRT20
33 cystic basal cell carcinoma 10.0 KRT20 PTGER4
34 malignant syringoma 10.0 KRT20 PTGER4
35 ampulla of vater cancer 9.9 KRT17 KRT20
36 thymus adenocarcinoma 9.9 KRT20 PTGER4
37 papillary serous adenocarcinoma 9.9 KRT20 PTGER4
38 rete testis adenocarcinoma 9.9 KRT20 PTGER4
39 rete testis neoplasm 9.9 KRT20 PTGER4
40 primary cutaneous amyloidosis 9.9 KRT10 KRT14 KRT17
41 actinic keratosis 9.9 KRT17 KRT20
42 skin disease 9.9 KRT10 KRT14 KRT17
43 polycystic liver disease 1 with or without kidney cysts 9.9 KRT17 KRT20
44 epidermolytic hyperkeratosis 9.9 KRT10 KRT17
45 epidermodysplasia verruciformis 9.9 KRT10 KRT14
46 skin benign neoplasm 9.8 KRT14 KRT20
47 morpheaform basal cell carcinoma 9.8 KRT17 KRT20 PHLDA1
48 sweat gland cancer 9.8 KRT14 KRT20
49 papilloma 9.7 KRT10 KRT14 KRT20
50 psoriasis 9.7 KRT10 KRT14 KRT17

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

MGI Mouse Phenotypes related to Basal Cell Carcinoma, Infundibulocystic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.8 KRT14 KRT17 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:

41
Skin, Kidney, Liver, Breast, Testis, Thymus

Publications for Basal Cell Carcinoma, Infundibulocystic

Articles related to Basal Cell Carcinoma, Infundibulocystic:

# Title Authors Year
1
Nonsyndromic giant Basal cell carcinoma with follicular differentiation and multifocal localized Basal cell carcinoma. ( 23714963 )
2013
2
Bcl-2 and CD10 expression in the differential diagnosis of trichoblastoma, basal cell carcinoma, and basal cell carcinoma with follicular differentiation. ( 19570076 )
2009
3
Basal cell carcinoma with follicular differentiation. ( 2802108 )
1989
4
Basal cell carcinoma with follicular differentiation. ( 2802109 )
1989
5
Basal cell carcinoma with follicular differentiation. ( 2802110 )
1989
6
Basal cell carcinoma with follicular differentiation. ( 2981018 )
1988
7
Basal cell carcinoma with follicular differentiation. ( 2981015 )
1987

Variations for Basal Cell Carcinoma, Infundibulocystic

Cosmic variations for Basal Cell Carcinoma, Infundibulocystic:

9 (show top 50) (show all 687)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6926860 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.5825G>A p.G1942E 16:72796857-72796857 15
2 COSM6926861 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 15
3 COSM6969201 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 15
4 COSM6953811 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 15
5 COSM6926862 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 15
6 COSM6936924 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 15
7 COSM3691166 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 15
8 COSM212945 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 15
9 COSM6953809 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 15
10 COSM6936922 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 15
11 COSM6926855 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 15
12 COSM6912933 TRAF7 skin,NS,carcinoma,basal cell carcinoma c.1802C>T p.T601I 16:2176104-2176104 15
13 COSM6949578 TP63 skin,NS,carcinoma,basal cell carcinoma c.1922C>T p.A641V 3:189894381-189894381 15
14 COSM44071 TP53 skin,NS,carcinoma,basal cell carcinoma c.955A>G p.K319E 17:7673573-7673573 15
15 COSM44097 TP53 skin,NS,carcinoma,basal cell carcinoma c.530C>T p.P177L 17:7675082-7675082 15
16 COSM44096 TP53 skin,NS,carcinoma,basal cell carcinoma c.748C>G p.P250A 17:7674215-7674215 15
17 COSM45074 TP53 skin,NS,carcinoma,basal cell carcinoma c.829T>G p.C277G 17:7673791-7673791 15
18 COSM45739 TP53 skin,NS,carcinoma,basal cell carcinoma c.677G>C p.G226A 17:7674286-7674286 15
19 COSM10728 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 17:7673781-7673781 15
20 COSM10656 TP53 skin,NS,carcinoma,basal cell carcinoma c.742C>T p.R248W 17:7674221-7674221 15
21 COSM44606 TP53 skin,NS,carcinoma,basal cell carcinoma c.665C>T p.P222L 17:7674866-7674866 15
22 COSM44295 TP53 skin,NS,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 15
23 COSM43778 TP53 skin,NS,carcinoma,basal cell carcinoma c.713G>T p.C238F 17:7674250-7674250 15
24 COSM10939 TP53 skin,NS,carcinoma,basal cell carcinoma c.832C>T p.P278S 17:7673788-7673788 15
25 COSM10650 TP53 skin,NS,carcinoma,basal cell carcinoma c.529C>T p.P177S 17:7675083-7675083 15
26 COSM43665 TP53 skin,NS,carcinoma,basal cell carcinoma c.746G>C p.R249T 17:7674217-7674217 15
27 COSM10662 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 15
28 COSM45774 TP53 skin,NS,carcinoma,basal cell carcinoma c.899C>G p.P300R 17:7673721-7673721 15
29 COSM10749 TP53 skin,NS,carcinoma,basal cell carcinoma c.830G>T p.C277F 17:7673790-7673790 15
30 COSM11449 TP53 skin,NS,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 15
31 COSM10660 TP53 skin,NS,carcinoma,basal cell carcinoma c.818G>A p.R273H 17:7673802-7673802 15
32 COSM10771 TP53 skin,NS,carcinoma,basal cell carcinoma c.749C>T p.P250L 17:7674214-7674214 15
33 COSM44068 TP53 skin,NS,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 15
34 COSM11152 TP53 skin,NS,carcinoma,basal cell carcinoma c.700T>C p.Y234H 17:7674263-7674263 15
35 COSM43582 TP53 skin,NS,carcinoma,basal cell carcinoma c.454C>T p.P152S 17:7675158-7675158 15
36 COSM10768 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 17:7675077-7675077 15
37 COSM45834 TP53 skin,NS,carcinoma,basal cell carcinoma c.409C>A p.L137M 17:7675203-7675203 15
38 COSM10905 TP53 skin,NS,carcinoma,basal cell carcinoma c.451C>T p.P151S 17:7675161-7675161 15
39 COSM10654 TP53 skin,NS,carcinoma,basal cell carcinoma c.637C>T p.R213* 17:7674894-7674894 15
40 COSM6932 TP53 skin,NS,carcinoma,basal cell carcinoma c.733G>A p.G245S 17:7674230-7674230 15
41 COSM10648 TP53 skin,NS,carcinoma,basal cell carcinoma c.524G>A p.R175H 17:7675088-7675088 15
42 COSM45424 TP53 skin,NS,carcinoma,basal cell carcinoma c.781A>T p.S261C 17:7674182-7674182 15
43 COSM10812 TP53 skin,NS,carcinoma,basal cell carcinoma c.722C>T p.S241F 17:7674241-7674241 15
44 COSM10659 TP53 skin,NS,carcinoma,basal cell carcinoma c.817C>T p.R273C 17:7673803-7673803 15
45 COSM10794 TP53 skin,NS,carcinoma,basal cell carcinoma c.796G>A p.G266R 17:7673824-7673824 15
46 COSM44552 TP53 skin,NS,carcinoma,basal cell carcinoma c.509C>T p.T170M 17:7675103-7675103 15
47 COSM10704 TP53 skin,NS,carcinoma,basal cell carcinoma c.844C>T p.R282W 17:7673776-7673776 15
48 COSM10726 TP53 skin,NS,carcinoma,basal cell carcinoma c.856G>A p.E286K 17:7673764-7673764 15
49 COSM6549 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>T p.R248L 17:7674220-7674220 15
50 COSM45304 TP53 skin,NS,carcinoma,basal cell carcinoma c.375+1G>A p.? 17:7675993-7675993 15

Expression for Basal Cell Carcinoma, Infundibulocystic

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

Pathways for Basal Cell Carcinoma, Infundibulocystic

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 cytosol GO:0005829 9.63 KRT10 KRT14 KRT17 KRT20 PHLDA1 SUFU
2 cell periphery GO:0071944 8.96 KRT14 KRT17
3 intermediate filament GO:0005882 8.92 KRT10 KRT14 KRT17 KRT20

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

# Name GO ID Score Top Affiliating Genes
1 epidermis development GO:0008544 9.26 KRT14 KRT17
2 keratinization GO:0031424 9.26 KRT10 KRT14 KRT17 KRT20
3 intermediate filament organization GO:0045109 9.16 KRT17 KRT20
4 cornification GO:0070268 8.92 KRT10 KRT14 KRT17 KRT20

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 8.8 KRT14 KRT17 KRT20

Sources for Basal Cell Carcinoma, Infundibulocystic

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11 DGIdb
17 ExPASy
19 FMA
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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