MCID: BSL044
MIFTS: 32

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 58 54 74
Basal Cell Carcinoma with Follicular Differentiation 58 54
Infundibulocystic Basal Cell Carcinoma 12 15
Skin Infundibulocystic Basal Cell Carcinoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:4279
OMIM 58 604451
MedGen 43 C1304297
UMLS 74 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 nevus syndrome. 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, testis and kidney, 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 29.9 KRT10 KRT17 KRT20 SUFU
2 basal cell nevus syndrome 10.4
3 basal cell carcinoma 1 10.4
4 eyelid carcinoma 10.3
5 acanthoma 10.2 KRT10 KRT17
6 eccrine acrospiroma 10.2 KRT10 KRT17
7 steatocystoma multiplex 10.2 KRT10 KRT17
8 bowen's disease 10.2 KRT10 KRT17
9 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.2
10 keratosis 10.2
11 basaloid follicular hamartoma 10.2
12 nodular hidradenoma 10.1 KRT10 PTGER4
13 keratosis, seborrheic 10.1 KRT10 KRT17
14 keratoacanthoma 10.1 KRT10 KRT17
15 breast squamous cell carcinoma 10.1 KRT10 KRT14
16 epidermolysis bullosa simplex 10.1 KRT10 KRT14
17 epidermolysis bullosa simplex with mottled pigmentation 10.1 KRT10 KRT14
18 pachyonychia congenita 1 10.1 KRT10 KRT17
19 pregnancy adenoma 10.1 KRT14 KRT17
20 basaloid squamous cell carcinoma 10.0 KRT14 KRT17
21 striate palmoplantar keratoderma 10.0 KRT10 KRT14
22 pericardial mesothelioma 10.0 KRT10 PTGER4
23 epidermolysis bullosa simplex, dowling-meara type 10.0 KRT10 KRT14
24 pre-malignant neoplasm 10.0 KRT14 KRT17
25 hidradenitis suppurativa 10.0 KRT10 KRT14
26 hidradenitis 10.0 KRT10 KRT14
27 intraneural perineurioma 10.0 KRT10 KRT14
28 pinguecula 10.0 KRT10 KRT14
29 white sponge nevus 1 10.0 KRT10 KRT14
30 ampulla of vater adenocarcinoma 10.0 KRT17 KRT20
31 palmoplantar keratoderma, epidermolytic 10.0 KRT10 KRT14
32 infiltrative basal cell carcinoma 9.9 KRT17 KRT20
33 ovarian mucinous neoplasm 9.9 KRT17 KRT20
34 in situ carcinoma 9.9 KRT14 KRT17
35 cystic basal cell carcinoma 9.9 KRT20 PTGER4
36 malignant syringoma 9.9 KRT20 PTGER4
37 thymus adenocarcinoma 9.9 KRT20 PTGER4
38 ampulla of vater cancer 9.9 KRT17 KRT20
39 papillary serous adenocarcinoma 9.9 KRT20 PTGER4
40 rete testis adenocarcinoma 9.9 KRT20 PTGER4
41 rete testis neoplasm 9.9 KRT20 PTGER4
42 primary cutaneous amyloidosis 9.8 KRT10 KRT14 KRT17
43 skin disease 9.8 KRT10 KRT14 KRT17
44 epidermolytic hyperkeratosis 9.8 KRT10 KRT17
45 actinic keratosis 9.8 KRT17 KRT20
46 polycystic liver disease 1 with or without kidney cysts 9.7 KRT17 KRT20
47 morpheaform basal cell carcinoma 9.7 KRT17 KRT20 PHLDA1
48 skin benign neoplasm 9.7 KRT14 KRT20
49 papilloma 9.6 KRT10 KRT14 KRT20
50 fibroepithelial basal cell carcinoma 9.6 KRT14 KRT20 PHLDA1

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:

47
# 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:

42
Skin, Testis, Kidney, Liver, Heart, Breast, 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 0
2 COSM6969201 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 0
3 COSM6953811 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 0
4 COSM6926862 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 0
5 COSM6936924 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 0
6 COSM3691166 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 0
7 COSM6926861 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 0
8 COSM212945 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 0
9 COSM6936922 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 0
10 COSM6926855 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 0
11 COSM6953809 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 0
12 COSM6912933 TRAF7 skin,NS,carcinoma,basal cell carcinoma c.1802C>T p.T601I 16:2176104-2176104 0
13 COSM6949578 TP63 skin,NS,carcinoma,basal cell carcinoma c.1922C>T p.A641V 3:189894381-189894381 0
14 COSM44071 TP53 skin,NS,carcinoma,basal cell carcinoma c.955A>G p.K319E 17:7673573-7673573 0
15 COSM44097 TP53 skin,NS,carcinoma,basal cell carcinoma c.530C>T p.P177L 17:7675082-7675082 0
16 COSM10812 TP53 skin,NS,carcinoma,basal cell carcinoma c.722C>T p.S241F 17:7674241-7674241 0
17 COSM10988 TP53 skin,NS,carcinoma,basal cell carcinoma c.772G>A p.E258K 17:7674191-7674191 0
18 COSM45074 TP53 skin,NS,carcinoma,basal cell carcinoma c.829T>G p.C277G 17:7673791-7673791 0
19 COSM10728 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 17:7673781-7673781 0
20 COSM45739 TP53 skin,NS,carcinoma,basal cell carcinoma c.677G>C p.G226A 17:7674286-7674286 0
21 COSM44295 TP53 skin,NS,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 0
22 COSM10939 TP53 skin,NS,carcinoma,basal cell carcinoma c.832C>T p.P278S 17:7673788-7673788 0
23 COSM10650 TP53 skin,NS,carcinoma,basal cell carcinoma c.529C>T p.P177S 17:7675083-7675083 0
24 COSM10662 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 0
25 COSM43665 TP53 skin,NS,carcinoma,basal cell carcinoma c.746G>C p.R249T 17:7674217-7674217 0
26 COSM45774 TP53 skin,NS,carcinoma,basal cell carcinoma c.899C>G p.P300R 17:7673721-7673721 0
27 COSM10749 TP53 skin,NS,carcinoma,basal cell carcinoma c.830G>T p.C277F 17:7673790-7673790 0
28 COSM10660 TP53 skin,NS,carcinoma,basal cell carcinoma c.818G>A p.R273H 17:7673802-7673802 0
29 COSM11449 TP53 skin,NS,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 0
30 COSM10771 TP53 skin,NS,carcinoma,basal cell carcinoma c.749C>T p.P250L 17:7674214-7674214 0
31 COSM44068 TP53 skin,NS,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 0
32 COSM11152 TP53 skin,NS,carcinoma,basal cell carcinoma c.700T>C p.Y234H 17:7674263-7674263 0
33 COSM10768 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 17:7675077-7675077 0
34 COSM45834 TP53 skin,NS,carcinoma,basal cell carcinoma c.409C>A p.L137M 17:7675203-7675203 0
35 COSM10654 TP53 skin,NS,carcinoma,basal cell carcinoma c.637C>T p.R213* 17:7674894-7674894 0
36 COSM10905 TP53 skin,NS,carcinoma,basal cell carcinoma c.451C>T p.P151S 17:7675161-7675161 0
37 COSM6932 TP53 skin,NS,carcinoma,basal cell carcinoma c.733G>A p.G245S 17:7674230-7674230 0
38 COSM10648 TP53 skin,NS,carcinoma,basal cell carcinoma c.524G>A p.R175H 17:7675088-7675088 0
39 COSM45424 TP53 skin,NS,carcinoma,basal cell carcinoma c.781A>T p.S261C 17:7674182-7674182 0
40 COSM10656 TP53 skin,NS,carcinoma,basal cell carcinoma c.742C>T p.R248W 17:7674221-7674221 0
41 COSM10659 TP53 skin,NS,carcinoma,basal cell carcinoma c.817C>T p.R273C 17:7673803-7673803 0
42 COSM10794 TP53 skin,NS,carcinoma,basal cell carcinoma c.796G>A p.G266R 17:7673824-7673824 0
43 COSM43582 TP53 skin,NS,carcinoma,basal cell carcinoma c.454C>T p.P152S 17:7675158-7675158 0
44 COSM10704 TP53 skin,NS,carcinoma,basal cell carcinoma c.844C>T p.R282W 17:7673776-7673776 0
45 COSM6549 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>T p.R248L 17:7674220-7674220 0
46 COSM10726 TP53 skin,NS,carcinoma,basal cell carcinoma c.856G>A p.E286K 17:7673764-7673764 0
47 COSM45304 TP53 skin,NS,carcinoma,basal cell carcinoma c.375+1G>A p.? 17:7675993-7675993 0
48 COSM10867 TP53 skin,NS,carcinoma,basal cell carcinoma c.797G>A p.G266E 17:7673823-7673823 0
49 COSM43714 TP53 skin,NS,carcinoma,basal cell carcinoma c.836G>A p.G279E 17:7673784-7673784 0
50 COSM44226 TP53 skin,NS,carcinoma,basal cell carcinoma c.380C>T p.S127F 17:7675232-7675232 0

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

3 CDC
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11 DGIdb
17 EFO
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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