MCID: INF028
MIFTS: 27

Infundibulocystic Basal Cell Carcinoma malady

Categories: Rare diseases, Cancer diseases, Skin diseases

Aliases & Classifications for Infundibulocystic Basal Cell Carcinoma

Aliases & Descriptions for Infundibulocystic Basal Cell Carcinoma:

Name: Infundibulocystic Basal Cell Carcinoma 12 14
Basal Cell Carcinoma, Infundibulocystic 50 69
Basal Cell Carcinoma with Follicular Differentiation 50
Skin Infundibulocystic Basal Cell Carcinoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:4279

Summaries for Infundibulocystic Basal Cell Carcinoma

MalaCards based summary : Infundibulocystic Basal Cell Carcinoma, also known as basal cell carcinoma, infundibulocystic, is related to basal cell carcinoma and craniodiaphyseal dysplasia, autosomal dominant. An important gene associated with Infundibulocystic Basal Cell Carcinoma is SUFU (SUFU Negative Regulator Of Hedgehog Signaling), and among its related pathways/superpathways are Pathways in cancer and Cytoskeletal Signaling. Affiliated tissues include skin, and related phenotypes are craniofacial and integument

Related Diseases for Infundibulocystic Basal Cell Carcinoma

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

(show top 50) (show all 64)
id Related Disease Score Top Affiliating Genes
1 basal cell carcinoma 10.4
2 craniodiaphyseal dysplasia, autosomal dominant 10.2 KRT10 KRT17
3 brachydactyly small stature face anomalies 10.2 KRT10 KRT17
4 megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 10.2 KRT10 KRT17
5 small intestine leiomyoma 10.2 KRT17 KRT20
6 vulvar angiokeratoma 10.2 KRT10 PTGER4
7 pachyonychia congenita 2 10.2 KRT10 KRT17
8 neurofibrosarcoma 10.2 KRT17 KRT20
9 pelvic inflammatory disease 10.2 KRT17 KRT20
10 malignant spindle cell melanoma 10.2 KRT10 KRT17
11 sarcomatoid basal cell carcinoma 10.2 KRT17 KRT20
12 ichthyosis histrix, curth-macklin type 10.1 KRT10 KRT17
13 breast pericanalicular fibroadenoma 10.1 KRT20 PTGER4
14 apocrine adenocarcinoma 10.1 KRT20 PTGER4
15 acute stress disorder 10.1 KRT17 KRT20
16 sphenoid sinus squamous cell carcinoma 10.1 KRT20 PTGER4
17 squamous cell carcinoma 10.1 KRT10 KRT14
18 adult botryoid rhabdomyosarcoma 10.1 KRT14 KRT17
19 dowling-degos disease 1 10.1 KRT10 KRT14
20 cranial nerve disease 10.1 KRT20 PTGER4
21 basaloid squamous cell carcinoma 10.1 KRT10 KRT14
22 thymus squamous cell carcinoma 10.1 KRT14 KRT17
23 female reproductive system disease 10.1 KRT10 KRT14
24 secondary corneal edema 10.1 KRT10 KRT14
25 leptospirosis 10.1 KRT10 KRT14
26 ovarian papillary neoplasm 10.1 KRT10 PTGER4
27 myotonic disease 10.1 KRT20 PTGER4
28 scott syndrome 10.1 KRT10 KRT14
29 clear cell meningioma 10.1 PTCH1 SUFU
30 intestinal pseudo-obstruction 10.1 PTCH1 SUFU
31 anal margin carcinoma 10.1 KRT17 PTCH1
32 subependymal glioma 10.1 KRT14 KRT20
33 mongolian spot 10.1 KRT10 KRT14
34 glomangiomatosis 10.1 KRT10 PTCH1
35 anus adenocarcinoma 10.1 KRT14 KRT20
36 childhood central nervous system primitive neuroectodermal neoplasm 10.0 PTCH1 SUFU
37 epidermolysis bullosa simplex-mp 10.0 KRT10 KRT14
38 estrogen-receptor positive breast cancer 10.0 KRT14 KRT17
39 clear cell variant infiltrating bladder urothelial carcinoma 10.0 PTCH1 SUFU
40 mitochondrial encephalomyopathy 10.0 KRT17 KRT20
41 colonic pseudo-obstruction 10.0 PTCH1 SUFU
42 vulva adenocarcinoma 10.0 KRT14 KRT20
43 pancreatic gastrinoma 10.0 KRT17 KRT20 PTGER4
44 statin toxicity 10.0 PTCH1 SUFU
45 mixed cell adenoma 10.0 KRT10 KRT14 KRT17
46 colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas 10.0 KRT10 KRT14 KRT17
47 distal arthrogryposis 10.0 KRT10 KRT14 KRT17
48 intraocular retinoblastoma 10.0 KRT10 KRT14 KRT17
49 infiltrative basal cell carcinoma 10.0 KRT17 KRT20 PHLDA1
50 skin papilloma 10.0 KRT14 KRT20

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



Diseases related to Infundibulocystic Basal Cell Carcinoma

Symptoms & Phenotypes for Infundibulocystic Basal Cell Carcinoma

MGI Mouse Phenotypes related to Infundibulocystic Basal Cell Carcinoma:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.56 KRT14 KRT17 PTCH1 SUFU
2 integument MP:0010771 9.55 PTCH1 PTGER4 SUFU KRT14 KRT17
3 neoplasm MP:0002006 9.26 KRT14 PTCH1 PTGER4 SUFU
4 pigmentation MP:0001186 8.92 KRT14 KRT17 PTCH1 SUFU

Drugs & Therapeutics for Infundibulocystic Basal Cell Carcinoma

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

Genetic Tests for Infundibulocystic Basal Cell Carcinoma

Anatomical Context for Infundibulocystic Basal Cell Carcinoma

MalaCards organs/tissues related to Infundibulocystic Basal Cell Carcinoma:

39
Skin

Publications for Infundibulocystic Basal Cell Carcinoma

Articles related to Infundibulocystic Basal Cell Carcinoma:

(show all 11)
id Title Authors Year
1
Multiple Hereditary Infundibulocystic Basal Cell Carcinoma Syndrome Associated With a Germline SUFU Mutation. ( 26677003 )
2016
2
Cytokeratin 20 expression in basaloid follicular hamartoma and infundibulocystic basal cell carcinoma. ( 25353070 )
2014
3
Ber-EP4 immunoreactivity in infundibulocystic basal cell carcinoma. ( 24807788 )
2014
4
Infundibulocystic basal cell carcinoma: dermoscopic findings and histologic correlation. ( 25126459 )
2014
5
Cytokeratin expression patterns in multiple infundibulocystic basal cell carcinoma. ( 19863699 )
2011
6
Infundibulocystic basal cell carcinoma of the eyelid in basal cell nevus syndrome. ( 20489535 )
2010
7
Nevoid basal cell carcinoma syndrome or multiple hereditary infundibulocystic basal cell carcinoma syndrome? ( 15583598 )
2004
8
Multiple hereditary infundibulocystic basal cell carcinomas: a genodermatosis different from nevoid basal cell carcinoma syndrome. ( 10522671 )
1999
9
Infundibulocystic basal cell carcinoma. ( 9649699 )
1998
10
Infundibulocystic basal cell carcinoma. ( 8517497 )
1993
11
Infundibulocystic basal cell carcinoma: a newly described variant. ( 2235986 )
1990

Variations for Infundibulocystic Basal Cell Carcinoma

Cosmic variations for Infundibulocystic Basal Cell Carcinoma:

9 (show top 50) (show all 223)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM44130 TP53 skin,NS,carcinoma,basal cell carcinoma c.477C>T p.A159A 13
2 COSM43920 TP53 skin,NS,carcinoma,basal cell carcinoma c.680C>T p.S227F 13
3 COSM10705 TP53 skin,NS,carcinoma,basal cell carcinoma c.586C>T p.R196* 13
4 COSM10654 TP53 skin,NS,carcinoma,basal cell carcinoma c.637C>T p.R213* 13
5 COSM45774 TP53 skin,NS,carcinoma,basal cell carcinoma c.899C>G p.P300R 13
6 COSM11084 TP53 skin,NS,carcinoma,basal cell carcinoma c.517G>A p.V173M 13
7 COSM10662 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>A p.R248Q 13
8 COSM44097 TP53 skin,NS,carcinoma,basal cell carcinoma c.530C>T p.P177L 13
9 COSM44603 TP53 skin,NS,carcinoma,basal cell carcinoma c.835G>A p.G279R 13
10 COSM45424 TP53 skin,NS,carcinoma,basal cell carcinoma c.781A>T p.S261C 13
11 COSM44435 TP53 skin,NS,carcinoma,basal cell carcinoma c.96+1G>A p.? 13
12 COSM10659 TP53 skin,NS,carcinoma,basal cell carcinoma c.817C>T p.R273C 13
13 COSM10728 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 13
14 COSM43837 TP53 skin,NS,carcinoma,basal cell carcinoma c.843C>G p.D281E 13
15 COSM10749 TP53 skin,NS,carcinoma,basal cell carcinoma c.830G>T p.C277F 13
16 COSM45322 TP53 skin,NS,carcinoma,basal cell carcinoma c.757A>G p.T253A 13
17 COSM10995 TP53 skin,NS,carcinoma,basal cell carcinoma c.580C>T p.L194F 13
18 COSM43582 TP53 skin,NS,carcinoma,basal cell carcinoma c.454C>T p.P152S 13
19 COSM10656 TP53 skin,NS,carcinoma,basal cell carcinoma c.742C>T p.R248W 13
20 COSM10650 TP53 skin,NS,carcinoma,basal cell carcinoma c.529C>T p.P177S 13
21 COSM11152 TP53 skin,NS,carcinoma,basal cell carcinoma c.700T>C p.Y234H 13
22 COSM10726 TP53 skin,NS,carcinoma,basal cell carcinoma c.856G>A p.E286K 13
23 COSM10794 TP53 skin,NS,carcinoma,basal cell carcinoma c.796G>A p.G266R 13
24 COSM10939 TP53 skin,NS,carcinoma,basal cell carcinoma c.832C>T p.P278S 13
25 COSM10648 TP53 skin,NS,carcinoma,basal cell carcinoma c.524G>A p.R175H 13
26 COSM45304 TP53 skin,NS,carcinoma,basal cell carcinoma c.375+1G>A p.? 13
27 COSM44398 TP53 skin,NS,carcinoma,basal cell carcinoma c.682G>A p.D228N 13
28 COSM44606 TP53 skin,NS,carcinoma,basal cell carcinoma c.665C>T p.P222L 13
29 COSM44310 TP53 skin,NS,carcinoma,basal cell carcinoma c.738G>A p.M246I 13
30 COSM11376 TP53 skin,NS,carcinoma,basal cell carcinoma c.737T>G p.M246R 13
31 COSM10867 TP53 skin,NS,carcinoma,basal cell carcinoma c.797G>A p.G266E 13
32 COSM10812 TP53 skin,NS,carcinoma,basal cell carcinoma c.722C>T p.S241F 13
33 COSM10704 TP53 skin,NS,carcinoma,basal cell carcinoma c.844C>T p.R282W 13
34 COSM43842 TP53 skin,NS,carcinoma,basal cell carcinoma c.770T>C p.L257P 13
35 COSM6549 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>T p.R248L 13
36 COSM45733 TP53 skin,NS,carcinoma,basal cell carcinoma c.432G>A p.Q144Q 13
37 COSM6932 TP53 skin,NS,carcinoma,basal cell carcinoma c.733G>A p.G245S 13
38 COSM44226 TP53 skin,NS,carcinoma,basal cell carcinoma c.380C>T p.S127F 13
39 COSM10768 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 13
40 COSM10905 TP53 skin,NS,carcinoma,basal cell carcinoma c.451C>T p.P151S 13
41 COSM43714 TP53 skin,NS,carcinoma,basal cell carcinoma c.836G>A p.G279E 13
42 COSM43583 TP53 skin,NS,carcinoma,basal cell carcinoma c.425C>T p.P142L 13
43 COSM10863 TP53 skin,NS,carcinoma,basal cell carcinoma c.833C>T p.P278L 13
44 COSM11449 TP53 skin,NS,carcinoma,basal cell carcinoma c.388C>T p.L130F 13
45 COSM43700 TP53 skin,NS,carcinoma,basal cell carcinoma c.712T>A p.C238S 13
46 COSM45751 TP53 skin,NS,carcinoma,basal cell carcinoma c.511G>C p.E171Q 13
47 COSM44126 TP53 skin,NS,carcinoma,basal cell carcinoma c.507G>A p.M169I 13
48 COSM45074 TP53 skin,NS,carcinoma,basal cell carcinoma c.829T>G p.C277G 13
49 COSM10988 TP53 skin,NS,carcinoma,basal cell carcinoma c.772G>A p.E258K 13
50 COSM45732 TP53 skin,NS,carcinoma,basal cell carcinoma c.480G>C p.M160I 13

Expression for Infundibulocystic Basal Cell Carcinoma

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

Pathways for Infundibulocystic Basal Cell Carcinoma

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

id Super pathways Score Top Affiliating Genes
1 11.93 PTCH1 PTGER4 SUFU
2 11.61 KRT10 KRT17 KRT20
3
Show member pathways
11.38 KRT10 KRT14 KRT17 KRT20
4 11.17 KRT14 KRT17

GO Terms for Infundibulocystic Basal Cell Carcinoma

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

id Name GO ID Score Top Affiliating Genes
1 cell periphery GO:0071944 8.96 KRT14 KRT17
2 intermediate filament GO:0005882 8.92 KRT10 KRT14 KRT17 KRT20

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

id Name GO ID Score Top Affiliating Genes
1 neural tube closure GO:0001843 9.46 PTCH1 SUFU
2 response to mechanical stimulus GO:0009612 9.43 PTCH1 PTGER4
3 negative regulation of sequence-specific DNA binding transcription factor activity GO:0043433 9.4 PTCH1 SUFU
4 negative regulation of osteoblast differentiation GO:0045668 9.37 PTCH1 SUFU
5 epidermis development GO:0008544 9.33 KRT14 KRT17 PTCH1
6 negative regulation of smoothened signaling pathway GO:0045879 9.32 PTCH1 SUFU
7 intermediate filament organization GO:0045109 9.26 KRT17 KRT20
8 keratinization GO:0031424 9.26 KRT10 KRT14 KRT17 KRT20
9 cornification GO:0070268 8.92 KRT10 KRT14 KRT17 KRT20

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

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

Sources for Infundibulocystic Basal Cell Carcinoma

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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30 HGMD
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34 ICD10 via Orphanet
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