MCID: BRK001
MIFTS: 52

Brooke-Spiegler Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Cancer diseases categories

Summaries for Brooke-Spiegler Syndrome

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NIH Rare Diseases:41 Brooke-spiegler syndrome is a condition characterized by multiple skin tumors that develop from structures associated with the skin, such as sweat glands and hair follicles. people with brooke-spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, and cylindromas. the tumors associated with brooke-spiegler syndrome are generally benign (noncancerous), but occasionally they may become malignant (cancerous). individuals with brooke-spiegler syndrome are also at increased risk of developing tumors in tissues in other areas, particularly benign or malignant tumors of the salivary or parotid glands and basal cell carcinomas. brooke-spiegler syndrome is caused by mutations in the cyld gene. susceptibility to brooke-spiegler syndrome has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. however, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder. last updated: 2/18/2015

MalaCards based summary: Brooke-Spiegler Syndrome, also known as spiegler-brooke syndrome, is related to spiradenoma and basal cell carcinoma, and has symptoms including autosomal dominant inheritance, milia and neoplasm. An important gene associated with Brooke-Spiegler Syndrome is CYLD (cylindromatosis (turban tumor syndrome)), and among its related pathways are Wnt / Hedgehog / Notch and Basal cell carcinoma. The compounds reticulin and mucicarmine have been mentioned in the context of this disorder. Affiliated tissues include skin, salivary gland and eye, and related mouse phenotypes are tumorigenesis and limbs/digits/tail.

CDC:3 New Case of BSE Detected in Canada: On February 12, 2015, the Canadian Food Inspection Agency (CFIA) announced the confirmation of another bovine spongiform encephalopathy (BSE) in a beef cow from Alberta born in March 2009.

Genetics Home Reference:21 Brooke-Spiegler syndrome is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, and cylindromas. Spiradenomas develop in sweat glands. Trichoepitheliomas arise from hair follicles. The origin of cylindromas has been unclear; while previously thought to derive from sweat glands, they are now generally believed to begin in hair follicles. The tumors associated with Brooke-Spiegler syndrome are generally noncancerous (benign), but occasionally they may become cancerous (malignant). Affected individuals are also at increased risk of developing tumors in tissues other than skin appendages, particularly benign or malignant tumors of the salivary glands.

OMIM:45 Brooke-Spiegler syndrome is an autosomal dominant disorder classically characterized by the appearance of multiple skin... (605041) more...

Aliases & Classifications for Brooke-Spiegler Syndrome

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Sources:
45OMIM, 9Disease Ontology, 41NIH Rare Diseases, 21Genetics Home Reference, 11DISEASES, 47Orphanet, 60UMLS, 10diseasecard, 20GeneTests, 22GTR, 34MESH via Orphanet, 61UMLS via Orphanet
See all sources

Brooke-Spiegler Syndrome, Aliases & Descriptions:

Name: Brooke-Spiegler Syndrome 45 9 41 21 11 47 60
Spiegler-Brooke Syndrome 45 10 41 20 21 22
Ancell-Spiegler Cylindromas 41 60
Brss 41 21
 
Schilbach-Rott Syndrome 60
Sbs 41
Bss 21


Classifications:



External Ids:

OMIM45 605041
Disease Ontology9 DOID:0050693
Orphanet47 79493
MESH via Orphanet34 C536611
UMLS via Orphanet61 C1857941

Related Diseases for Brooke-Spiegler Syndrome

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Diseases related to Brooke-Spiegler Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 92)
idRelated DiseaseScoreTop Affiliating Genes
1spiradenoma31.8CYLD
2basal cell carcinoma31.6PTCH1
3adenoma30.3TP53, KRT7, KRT8
4breast cancer29.5KRT7, PTCH1, TP53, KRT8
5multiple familial trichoepithelioma10.7
6sick building syndrome10.6
7pseudomyxoma peritonei10.5KRT7
8metanephric adenoma10.4KRT7
9short bowel syndrome10.4
10choroid plexus papilloma10.4TP53
11neural tube defects10.3
12cylindromatosis, familial10.3
13basal cell carcinoma, somatic10.3
14neurofibromatosis, type 110.3
15neurofibromatosis10.3
16syringoma10.3
17adenoiditis10.3
18psoriasis10.3
19hypotelorism cleft palate hypospadias10.3
20malignant cylindroma10.3
21shaken baby syndrome10.3
22adenomatoid tumor10.3VIM
23renal cell carcinoma10.2KRT7, TP53
24brown-sequard syndrome10.2
25bronchitis10.2
26endometrial cancer10.2KRT7, TP53
27pancreatic ductal carcinoma10.2KRT8, KRT7
28barrett esophagus/esophageal adenocarcinoma10.2KRT7, TP53
29cervical adenocarcinoma10.2KRT8, KRT7
30adenosquamous carcinoma10.1KRT8, KRT7
31asthma10.1
32gallbladder cancer10.1KRT7, KRT8
33neuroendocrine tumor10.1KRT8, KRT7
34breast ductal carcinoma10.1TP53, KRT8
35xeroderma pigmentosum, variant type10.1TP53, PTCH1
36spindle cell sarcoma10.1KRT7, VIM
37secretory meningioma10.1KRT7, VIM
38sex cord-gonadal stromal tumor10.1VIM, KRT7
39meningioma, familial10.1PTCH1, VIM
40thyroid cancer10.1TP53, PTCH1
41trichoepithelioma, multiple familial, 110.1
42bernard-soulier syndrome, type c10.0
43common cold10.0
44endophthalmitis10.0
45fibroma10.0VIM, PTCH1
46renal clear cell carcinoma10.0VIM, KRT7
47mesothelioma, somatic10.0KRT7, VIM
48gastric adenocarcinoma10.0KRT7, KRT8
49liposarcoma10.0TP53, VIM
50adenomatous polyposis coli10.0PTCH1, TP53

Graphical network of the top 20 diseases related to Brooke-Spiegler Syndrome:



Diseases related to brooke-spiegler syndrome

Symptoms for Brooke-Spiegler Syndrome

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Symptoms by clinical synopsis from OMIM:

605041

Clinical features from OMIM:

605041

HPO human phenotypes related to Brooke-Spiegler Syndrome:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 milia HP:0001056
3 neoplasm HP:0002664
4 adult onset HP:0003581

Drugs & Therapeutics for Brooke-Spiegler Syndrome

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Drug clinical trials:

Search ClinicalTrials for Brooke-Spiegler Syndrome

Search NIH Clinical Center for Brooke-Spiegler Syndrome

Genetic Tests for Brooke-Spiegler Syndrome

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Genetic tests related to Brooke-Spiegler Syndrome:

id Genetic test Affiliating Genes
1 Brooke-Spiegler Syndrome20 CYLD
2 Spiegler-Brooke Syndrome22

Anatomical Context for Brooke-Spiegler Syndrome

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MalaCards organs/tissues related to Brooke-Spiegler Syndrome:

31
Skin, Salivary gland, Eye

Animal Models for Brooke-Spiegler Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Brooke-Spiegler Syndrome:

35 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.8TP53, PTCH1, CYLD
2MP:00053718.5CYLD, PTCH1, TP53
3MP:00053818.4CYLD, PTCH1, TP53, KRT8
4MP:00053888.4VIM, TP53, PTCH1, CYLD
5MP:00053808.2KRT8, VIM, TP53, PTCH1
6MP:00053898.1PTCH1, TP53, VIM, KRT8
7MP:00053858.0KRT8, VIM, TP53, PTCH1
8MP:00053977.9KRT8, VIM, TP53, PTCH1, CYLD
9MP:00053877.9CYLD, PTCH1, TP53, VIM, KRT8
10MP:00053847.9CYLD, PTCH1, TP53, VIM, KRT7
11MP:00053787.8CYLD, PTCH1, TP53, VIM, KRT8
12MP:00107687.6CYLD, PTCH1, TP53, VIM, KRT8

Publications for Brooke-Spiegler Syndrome

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Articles related to Brooke-Spiegler Syndrome:

(show top 50)    (show all 61)
idTitleAuthorsYear
1
Brooke-Spiegler syndrome clinically misdiagnosed as neurofibromatosis type 1. (25502717)
2015
2
<i>CYLD</i> GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas. (25737804)
2015
3
Late-onset Brooke-Spiegler syndrome with family histories of various cancers. (24628357)
2014
4
Brooke-Spiegler syndrome tumor spectrum beyond the skin: a patient carrying germline R936X CYLD mutation and a somatic CYLD mutation in Brenner tumor. (24559443)
2014
5
Syndrome in question. Brooke-Spiegler syndrome. (24626672)
2014
6
Large Germline Deletions of the CYLD Gene in Patients With Brooke-Spiegler Syndrome and Multiple Familial Trichoepithelioma. (25347032)
2014
7
A novel CYLD germline mutation in Brooke-Spiegler syndrome. (25131725)
2014
8
Brooke-spiegler syndrome: a rare entity. (24587929)
2014
9
A new Cylindromatosis (CYLD) gene mutation in a case of Brooke-Spiegler syndrome masquerading as basal cell carcinoma of the eyelids. (22689134)
2013
10
Novel and recurrent germline and somatic mutations in a cohort of 67 patients from 48 families with Brooke-Spiegler syndrome including the phenotypic variant of multiple familial trichoepitheliomas and correlation with the histopathologic findings in 379 biopsy specimens. (23249834)
2013
11
Brooke-Spiegler syndrome associated with ulcerative rectosigmoiditis. (22735777)
2013
12
A clinicopathologic and molecular biologic study of patients presenting with few adnexal tumors (two to four) from the morphological spectrum of Brooke-Spiegler syndrome. (22588548)
2013
13
Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma and eccrine spiradenoma. (24261740)
2013
14
Brooke-Spiegler syndrome. (23286806)
2012
15
Radiofrequency ablation: a safe and economical modality in treatment of Brooke-Spiegler syndrome. (22948057)
2012
16
Basal cell carcinoma arising in association with trichoepithelioma in a case of Brooke-Spiegler syndrome with a novel genetic mutation in CYLD. (22882113)
2012
17
Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes. (22077640)
2012
18
Brooke-spiegler syndrome: a rare entity. (22628987)
2012
19
Brooke-spiegler syndrome with multiple scalp cylindromas and bilateral parotid gland adenomas. (22606564)
2012
20
Comparing ablative fractionated resurfacing, photodynamic therapy, and topical imiquimod in the treatment of trichoblastomas of Brooke-Spiegler Syndrome: a case study. (21388481)
2011
21
Expression of p53 and TP53 mutational analysis in malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma, sporadic or associated with Brooke-Spiegler syndrome. (20075707)
2010
22
Brooke-Spiegler syndrome: report of a case with a novel mutation in the CYLD gene and different types of somatic mutations in benign and malignant tumors. (20132422)
2010
23
New mutation in the CYLD gene within a family with Brooke-Spiegler syndrome. (20151946)
2010
24
Familial cylindromatosis and brooke-spiegler syndrome: a review of current therapeutic approaches and the surgical challenges posed by two affected families. (19397670)
2009
25
Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. (19462465)
2009
26
Morphologic diversity of malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma based on the study of 24 cases, sporadic or occurring in the setting of Brooke-Spiegler syndrome. (19194280)
2009
27
Dermoscopy of Brooke-Spiegler syndrome. (19620580)
2009
28
Brooke-Spiegler syndrome with associated pegged teeth. (19090338)
2008
29
Brooke-Spiegler syndrome: report of a case of multiple cylindromas and trichoepitheliomas. (18718192)
2008
30
Brooke-Spiegler syndrome. (19171990)
2008
31
Cylindroma transforming into basal cell carcinoma in a patient with Brooke-Spiegler syndrome. (21886698)
2007
32
Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene. (17083363)
2006
33
A case of Brooke-Spiegler syndrome with a new mutation in the CYLD gene. (16634909)
2006
34
Brooke-Spiegler syndrome: treatment with laser ablation. (15953067)
2005
35
Psoriasis and Brooke-Spiegler syndrome with multiple malignancies. (15857473)
2005
36
Brooke-Spiegler syndrome: report of a case with combined lesions containing cylindromatous, spiradenomatous, trichoblastomatous, and sebaceous differentiation. (15677973)
2005
37
Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma, spiradenoma, and syringoma. (14739501)
2004
38
Case of the Brooke-Spiegler syndrome. (15527432)
2004
39
Case 3. Brooke-Spiegler syndrome. (15115535)
2004
40
Brooke-Spiegler syndrome with parotid gland involvement. (15246936)
2004
41
A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome. (14632188)
2003
42
Brooke-Spiegler syndrome. (11730050)
2001
43
Ossified cylindroma in familial cylindromatosis (Brooke-Spiegler syndrome). (11493383)
2001
44
Brooke-Spiegler syndrome locus assigned to 16q12-q13. (10792569)
2000
45
Malignant cylindroma in Brooke-Spiegler syndrome. (11096200)
2000
46
Brooke-Spiegler syndrome: treatment of cylindromas with CO2 laser. (10971563)
2000
47
Brooke-Spiegler syndrome variant: segregation of tumor types with mixed differentiation in two generations. (9504671)
1998
48
A nevoid plaque with histological changes of trichoepithelioma and cylindroma in Brooke-Spiegler syndrome. An immunohistochemical study with cytokeratins. (8835176)
1995
49
Spiradenomas in Brooke-Spiegler syndrome. (7684205)
1993
50
Multiple hereditary trichoepithelioma and cylindroma (Brooke-Spiegler syndrome). (1660416)
1991

Variations for Brooke-Spiegler Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Brooke-Spiegler Syndrome:

62
id Symbol AA change Variation ID SNP ID
1CYLDp.Glu747GlyVAR_045967

Clinvar genetic disease variations for Brooke-Spiegler Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1CYLDCYLD, 1-BP DEL, 2253GdeletionPathogenic
2CYLDCYLD, 1-BP DEL, 2172AdeletionPathogenic
3CYLDNM_015247.2(CYLD): c.2240A> G (p.Glu747Gly)single nucleotide variantPathogenicrs121908389GRCh37Chr 16, 50825600: 50825600
4CYLDNM_015247.2(CYLD): c.2806C> T (p.Arg936Ter)single nucleotide variantPathogenicrs121908390GRCh37Chr 16, 50830354: 50830354
5CYLDCYLD, 1-BP DUP, 1392TduplicationPathogenic

Cosmic variations for Brooke-Spiegler Syndrome:

7 (show all 77)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
144310TP53skin,NS,carcinoma,basal cell carcinoma3
244925TP53skin,NS,carcinoma,basal cell carcinoma3
343842TP53skin,NS,carcinoma,basal cell carcinoma3
410660TP53skin,NS,carcinoma,basal cell carcinoma3
510704TP53skin,NS,carcinoma,basal cell carcinoma3
644167TP53skin,NS,carcinoma,basal cell carcinoma3
743665TP53skin,NS,carcinoma,basal cell carcinoma3
844071TP53skin,NS,carcinoma,basal cell carcinoma3
943702TP53skin,NS,carcinoma,basal cell carcinoma3
1010771TP53skin,NS,carcinoma,basal cell carcinoma3
1145015TP53skin,NS,carcinoma,basal cell carcinoma3
1245740TP53skin,NS,carcinoma,basal cell carcinoma3
1310648TP53skin,NS,carcinoma,basal cell carcinoma3
1444074TP53skin,NS,carcinoma,basal cell carcinoma3
1544096TP53skin,NS,carcinoma,basal cell carcinoma3
1644606TP53skin,NS,carcinoma,basal cell carcinoma3
1743608TP53skin,NS,carcinoma,basal cell carcinoma3
1843918TP53salivary gland,parotid,carcinoma,NS3
1943616TP53skin,NS,carcinoma,basal cell carcinoma3
2043700TP53skin,NS,carcinoma,basal cell carcinoma3
2143585TP53skin,NS,carcinoma,basal cell carcinoma3
2243592TP53skin,NS,carcinoma,basal cell carcinoma3
2343635TP53skin,NS,carcinoma,basal cell carcinoma3
2443577TP53skin,NS,carcinoma,basal cell carcinoma3
2510812TP53skin,NS,carcinoma,basal cell carcinoma3
2610656TP53skin,NS,carcinoma,basal cell carcinoma3
2744603TP53skin,NS,carcinoma,basal cell carcinoma3
2845420TP53skin,NS,carcinoma,basal cell carcinoma3
2944226TP53skin,NS,carcinoma,basal cell carcinoma3
3010768TP53skin,NS,carcinoma,basal cell carcinoma3
316932TP53skin,NS,carcinoma,basal cell carcinoma3
3245739TP53skin,NS,carcinoma,basal cell carcinoma3
3312013TP53salivary gland,parotid,carcinoma,NS3
3443582TP53skin,NS,carcinoma,basal cell carcinoma3
3510659TP53skin,NS,carcinoma,basal cell carcinoma3
3643584TP53skin,NS,carcinoma,basal cell carcinoma3
3743581TP53skin,NS,carcinoma,basal cell carcinoma3
3845423TP53skin,NS,carcinoma,basal cell carcinoma3
3944097TP53skin,NS,carcinoma,basal cell carcinoma3
4010988TP53skin,NS,carcinoma,basal cell carcinoma3
4144068TP53skin,NS,carcinoma,basal cell carcinoma3
426549TP53skin,NS,carcinoma,basal cell carcinoma3
4310749TP53skin,NS,carcinoma,basal cell carcinoma3
4445424TP53skin,NS,carcinoma,basal cell carcinoma3
4510662TP53skin,NS,carcinoma,basal cell carcinoma3
4610794TP53skin,NS,carcinoma,basal cell carcinoma3
4743837TP53skin,NS,carcinoma,basal cell carcinoma3
4810650TP53skin,NS,carcinoma,basal cell carcinoma3
4910867TP53skin,NS,carcinoma,basal cell carcinoma3
5024851PTCH1skin,NS,carcinoma,basal cell carcinoma3
5129349PTCH1skin,NS,carcinoma,basal cell carcinoma3
5217468PTCH1skin,neck,carcinoma,basal cell carcinoma3
5396963PTCH1skin,NS,carcinoma,basal cell carcinoma3
5417547PTCH1skin,NS,carcinoma,basal cell carcinoma3
5517434PTCH1skin,NS,carcinoma,basal cell carcinoma3
5629348PTCH1skin,NS,carcinoma,basal cell carcinoma3
5717454PTCH1skin,NS,carcinoma,basal cell carcinoma3
5817481PTCH1skin,NS,carcinoma,basal cell carcinoma3
5917592PTCH1skin,NS,carcinoma,basal cell carcinoma3
6096959PTCH1skin,NS,carcinoma,basal cell carcinoma3
6126361PTCH1skin,NS,carcinoma,basal cell carcinoma3
6226372PTCH1skin,NS,carcinoma,basal cell carcinoma3
6396960PTCH1skin,NS,carcinoma,basal cell carcinoma3
6496957PTCH1skin,NS,carcinoma,basal cell carcinoma3
6526365PTCH1skin,NS,carcinoma,basal cell carcinoma3
661651688PTCH1skin,NS,carcinoma,basal cell carcinoma3
6796958PTCH1skin,NS,carcinoma,basal cell carcinoma3
6814452PTCH1skin,neck,carcinoma,basal cell carcinoma3
69483HRASskin,NS,carcinoma,basal cell carcinoma3
70490HRASskin,NS,carcinoma,basal cell carcinoma3
71486HRASskin,NS,carcinoma,basal cell carcinoma3
72516KRASskin,neck,carcinoma,basal cell carcinoma3
73553KRASskin,NS,carcinoma,basal cell carcinoma3
7412476CDKN2Askin,NS,carcinoma,basal cell carcinoma3
755662CTNNB1skin,NS,carcinoma,basal cell carcinoma3
761235287EGFRsalivary gland,parotid,carcinoma,NS3
7713146SMOskin,NS,carcinoma,basal cell carcinoma3

Expression for genes affiliated with Brooke-Spiegler Syndrome

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Search GEO for disease gene expression data for Brooke-Spiegler Syndrome.

Pathways for genes affiliated with Brooke-Spiegler Syndrome

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Pathways related to Brooke-Spiegler Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6PTCH1, CYLD
2
Show member pathways
9.2TP53, PTCH1
39.1TP53, KRT8
49.0VIM, TP53
58.8KRT7, KRT8, VIM
68.8KRT7, KRT8, VIM

Compounds for genes affiliated with Brooke-Spiegler Syndrome

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Compounds related to Brooke-Spiegler Syndrome according to GeneCards Suite gene sharing:

(show all 36)
idCompoundScoreTop Affiliating Genes
1reticulin439.7KRT7, VIM
2mucicarmine439.7KRT7, VIM
3n-acetylglucosamine439.6KRT8, KRT7
4aristolochic acid43 210.4TP53, VIM
5temozolomide43 1210.4VIM, TP53
6bromodeoxyuridine439.3KRT8, VIM
7n-(4-hydroxyphenyl)retinamide439.3VIM, TP53
8roscovitine439.3VIM, TP53
9vinblastine43 49 1211.3VIM, TP53
10b 723439.2VIM, KRT8, KRT7
11hematoxylin439.2VIM, KRT8, KRT7
12matrigel439.2KRT7, KRT8, VIM
13nocodazole43 1210.1TP53, VIM
14glycogen43 2410.1VIM, KRT8, KRT7
15iron43 2410.1VIM, KRT8, KRT7
16thymidylate439.0VIM, TP53
17testosterone43 59 24 1212.0KRT7, KRT8, VIM
18vincristine43 49 1210.9TP53, VIM
19adriamycin438.9TP53, VIM, KRT8
205-aza-2deoxycytidine438.9KRT7, VIM, TP53
21etoposide43 49 59 1211.9KRT8, VIM, TP53
22butyrate438.9TP53, VIM, KRT8
23tamoxifen43 49 28 1211.8KRT8, VIM, TP53
24paclitaxel43 49 1210.8TP53, VIM, KRT8
25doxorubicin43 49 1210.8KRT8, VIM, TP53
26actinomycin d438.8KRT8, VIM, TP53
27cycloheximide438.8TP53, VIM, KRT8
28cytarabine43 49 1210.7VIM, TP53
29oligonucleotide438.7KRT8, VIM, TP53
30arginine438.6KRT7, VIM, TP53
31retinoid438.4KRT7, KRT8, VIM, TP53
32progesterone43 28 59 24 1212.4KRT7, KRT8, VIM, TP53
33vegf438.4TP53, VIM, KRT8, KRT7
34estrogen438.3TP53, VIM, KRT8, KRT7
35retinoic acid43 249.3TP53, VIM, KRT8, KRT7
36paraffin437.9KRT7, KRT8, VIM, TP53, PTCH1

GO Terms for genes affiliated with Brooke-Spiegler Syndrome

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Cellular components related to Brooke-Spiegler Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1midbodyGO:00304969.6PTCH1, CYLD
2keratin filamentGO:00450959.1KRT7, KRT8
3nuclear matrixGO:00163639.0KRT8, TP53
4intermediate filamentGO:00058828.8KRT7, KRT8, VIM

Biological processes related to Brooke-Spiegler Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1regulation of mitotic cell cycleGO:00073469.6PTCH1, CYLD
2viral processGO:00160327.7KRT7, KRT8, VIM, TP53

Molecular functions related to Brooke-Spiegler Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1scaffold protein bindingGO:00971109.0KRT8, VIM
2protein bindingGO:00055157.1KRT7, KRT8, VIM, TP53, PTCH1, CYLD

Products for genes affiliated with Brooke-Spiegler Syndrome

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Sources for Brooke-Spiegler Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet