MCID: BRK001
MIFTS: 49

Brooke-Spiegler Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Cancer diseases

Aliases & Classifications for Brooke-Spiegler Syndrome

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Aliases & Descriptions for Brooke-Spiegler Syndrome:

Name: Brooke-Spiegler Syndrome 52 11 48 24 25 54 70 13 68
Spiegler-Brooke Syndrome 52 48 25 70 27 12
Brss 48 25 70
Bss 24 25 70
Ancell-Spiegler Cylindromas 48 68
 
Sbs 48 70
Carcinoma, Skin Appendage 39
Eccrine Dermal Cylindroma 68
Schilbach-Rott Syndrome 68
Cyld Cutaneous Syndrome 54

Characteristics:

Orphanet epidemiological data:

54
brooke-spiegler syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy

HPO:

64
brooke-spiegler syndrome:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset

Classifications:



External Ids:

OMIM52 605041
Disease Ontology11 DOID:0050693
Orphanet54 ORPHA79493
UMLS via Orphanet69 C1857941
MESH via Orphanet40 C536611
MedGen37 C1857941
MeSH39 D018280

Summaries for Brooke-Spiegler Syndrome

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NIH Rare Diseases:48 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 multiple familial trichoepithelioma and sick building syndrome, and has symptoms including milia and neoplasm. An important gene associated with Brooke-Spiegler Syndrome is CYLD (CYLD Lysine 63 Deubiquitinase), and among its related pathways are Glucocorticoid receptor regulatory network and Signaling mediated by p38-alpha and p38-beta. Affiliated tissues include skin, salivary gland and lymph node, and related mouse phenotypes are pigmentation and endocrine/exocrine gland.

Genetics Home Reference:25 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:52 Brooke-Spiegler syndrome is an autosomal dominant disorder classically characterized by the appearance of multiple skin... (605041) more...

UniProtKB/Swiss-Prot:70 Brooke-Spiegler syndrome: An autosomal dominant disorder characterized by the appearance of multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. These tumors are typically located in the head and neck region, appear in early adulthood, and gradually increase in size and number throughout life.

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 89)
idRelated DiseaseScoreTop Affiliating Genes
1multiple familial trichoepithelioma11.6
2sick building syndrome11.3
3basal cell carcinoma 111.2
4cylindromatosis, familial11.2
5short bowel syndrome11.2
6neural tube defects11.2
7bernard-soulier syndrome, type c11.0
8brown-sequard syndrome11.0
9sebastian syndrome10.8
10barber-say syndrome10.8
11basal cell carcinoma10.4
12spiradenoma10.4
13glomangioma10.2CYLD, TP53
14malignant cylindroma10.2
15renal pelvis inverted papilloma10.2PTCH1, TP53
16thyrotoxic periodic paralysis 210.2CYLD, PTCH1
17vulvar benign neoplasm10.2PTCH1, TP53
18brainstem intraparenchymal clear cell meningioma10.2PTCH1, TP53
19benign intermediate mesothelioma10.1CYLD, KRT14
20connective tissue benign neoplasm10.1CYLD, KRT14
21papillary adenoma10.1CYLD, KRT14
22antidepressant or antipsychotic toxicity or dose selection10.1PTCH1, TP53
23anal margin carcinoma10.1KRT14, PTCH1
24metatypical basal cell carcinoma10.1KRT14, PTCH1
25neurofibromatosis, type 110.1
26adenoiditis10.1
27lymphoma10.1
28syringoma10.1
29adenoma10.1
30psoriasis10.1
31mature b-cell neoplasm10.0KRT14, TP53
32foramen magnum meningioma10.0PTCH1, TP53
33pleomorphic rhabdomyosarcoma10.0PTCH1, TP53
34ductal carcinoma in situ10.0KRT14, TP53
35bullous keratopathy10.0KRT14, TP53
36heavy chain disease10.0PTCH1, TP53
37cystic basal cell carcinoma10.0KRT14, PTCH1
38bronchitis10.0
39small cell neuroendocrine carcinoma9.9KRT14, PTCH1
40extrahepatic bile duct adenocarcinoma9.9KRT8, TP53
41pancreatic cancer9.9KRT8, TP53
42herpes simplex encephalitic 69.9PTCH1, TP53
43nerve fibre bundle defect9.9KRT8, TP53
44cervix endometrial stromal tumor9.9KRT14, TP53
45retroperitoneal germ cell neoplasm9.8KRT8, TP53
46dysgraphia9.8KRT14, TP53
47oligoastrocytoma9.8KRT14, KRT8
48richter's syndrome9.8PTCH1, TP53
49autoimmune lymphoproliferative syndrome9.8PTCH1, TP53
50bladder clear cell adenocarcinoma9.8KRT14, KRT8

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



Diseases related to brooke-spiegler syndrome

Symptoms & Phenotypes for Brooke-Spiegler Syndrome

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Symptoms by clinical synopsis from OMIM:

605041

Clinical features from OMIM:

605041

Human phenotypes related to Brooke-Spiegler Syndrome:

 64
id Description HPO Frequency HPO Source Accession
1 milia64 HP:0001056
2 neoplasm64 HP:0002664

MGI Mouse Phenotypes related to Brooke-Spiegler Syndrome according to GeneCards Suite gene sharing:

41 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.6KRT14, PTCH1, TP53
2MP:00053799.2CYLD, KRT14, PTCH1, TP53
3MP:00107719.2CYLD, KRT14, PTCH1, TP53
4MP:00020069.1CYLD, KRT14, PTCH1, TP53
5MP:00053898.7KRT14, KRT8, PTCH1, TP53
6MP:00053818.4CYLD, KRT14, KRT8, PTCH1, TP53
7MP:00053788.4CYLD, KRT14, KRT8, PTCH1, TP53
8MP:00053978.4CYLD, KRT14, KRT8, PTCH1, TP53
9MP:00053768.4CYLD, KRT14, KRT8, PTCH1, TP53
10MP:00053878.4CYLD, KRT14, KRT8, PTCH1, TP53
11MP:00053888.4CYLD, KRT14, PTCH1, TP53
12MP:00107688.3CYLD, KRT14, KRT8, PTCH1, TP53

Drugs & Therapeutics for Brooke-Spiegler Syndrome

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Drugs for Brooke-Spiegler Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Technetium tc 99m sulfur colloidapprovedPhase 222
Synonyms:
 
Technetium 99m sulfur colloid
Technetium Tc-99m Sulfur Colloid
2
nivolumabapprovedPhase 2326946414-94-4
Synonyms:
BMS-936558
 
MDX-1106
ONO-4538
nivolumab
3AnestheticsPhase 29001
4RadiopharmaceuticalsPhase 2485
5ImmunoglobulinsPhase 26045
6AntibodiesPhase 26045
7Antibodies, MonoclonalPhase 23795

Interventional clinical trials:

idNameStatusNCT IDPhase
1Sentinel Lymph Node (SLN) Biopsy for Sebaceous Gland Carcinoma of EyelidRecruitingNCT00832429Phase 2
2Talimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin CancersNot yet recruitingNCT02978625Phase 2
3Trial of Radiotherapy and Panitumumab in Salivary Gland MalignanciesWithdrawnNCT00984217Phase 2
4Spanish Registry of Mohs SurgeryRecruitingNCT02310503

Search NIH Clinical Center for Brooke-Spiegler Syndrome


Cochrane evidence based reviews: carcinoma, skin appendage

Genetic Tests for Brooke-Spiegler Syndrome

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Genetic tests related to Brooke-Spiegler Syndrome:

id Genetic test Affiliating Genes
1 Spiegler-Brooke Syndrome27
2 Brooke-Spiegler Syndrome24 CYLD

Anatomical Context for Brooke-Spiegler Syndrome

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MalaCards organs/tissues related to Brooke-Spiegler Syndrome:

36
Skin, Salivary gland, Lymph node, Eye

Publications for Brooke-Spiegler Syndrome

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Articles related to Brooke-Spiegler Syndrome:

(show top 50)    (show all 72)
idTitleAuthorsYear
1
Brooke-Spiegler Syndrome and Phenotypic Variants: An Update. (26971504)
2016
2
A case of Brooke-Spiegler syndrome with a novel mutation in the CYLD gene in a patient with aggressive non-Hodgkin's lymphoma. (26660106)
2016
3
The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene. (26861065)
2016
4
Brooke-Spiegler syndrome presenting multiple concurrent cutaneous and parotid gland neoplasms: cytologic findings on fine-needle sample and description of a novel mutation of the CYLD gene. (25995191)
2015
5
Brooke-Spiegler syndrome clinically misdiagnosed as neurofibromatosis type 1. (25502717)
2015
6
Malignant cylindroma in a patient with Brooke-Spiegler syndrome. (26114054)
2015
7
Basal Cell Carcinoma in a Patient With Brooke-Spiegler Syndrome. (26861436)
2015
8
A novel CYLD gene mutation and multiple basal cell carcinomas in a patient with Brooke-Spiegler syndrome. (25976026)
2015
9
Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation. (26329847)
2015
10
CYLD GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas. (25737804)
2015
11
Brooke-Spiegler Syndrome - an underrecognized cause of multiple familial scalp tumors: report of a new germline mutation. (26512302)
2015
12
Syndrome in question. Brooke-Spiegler syndrome. (24626672)
2014
13
Large Germline Deletions of the CYLD Gene in Patients With Brooke-Spiegler Syndrome and Multiple Familial Trichoepithelioma. (25347032)
2014
14
Brooke-spiegler syndrome: a rare entity. (24587929)
2014
15
Late-onset Brooke-Spiegler syndrome with family histories of various cancers. (24628357)
2014
16
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
17
A novel CYLD germline mutation in Brooke-Spiegler syndrome. (25131725)
2014
18
Enucleation of Cylindromas in Brooke-Spiegler Syndrome: A Novel Surgical Technique. (25361203)
2014
19
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
20
Brooke-Spiegler syndrome associated with ulcerative rectosigmoiditis. (22735777)
2013
21
A new Cylindromatosis (CYLD) gene mutation in a case of Brooke-Spiegler syndrome masquerading as basal cell carcinoma of the eyelids. (22689134)
2013
22
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
23
Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma and eccrine spiradenoma. (24261740)
2013
24
Atypical Adnexal Tumors Adjacent to Basal Cell Carcinoma: A Difficult Problem in Patients with Brooke-Spiegler Syndrome Undergoing Mohs Surgery. (24372646)
2013
25
A novel germline mutation in the CYLD gene in a Slovak patient with Brooke-Spiegler syndrome. (23641715)
2013
26
Basal cell carcinoma arising in association with trichoepithelioma in a case of Brooke-Spiegler syndrome with a novel genetic mutation in CYLD. (22882113)
2012
27
Brooke-spiegler syndrome: a rare entity. (22628987)
2012
28
A novel missense mutation of the CYLD gene identified in a Hungarian family with Brooke-Spiegler syndrome. (23171463)
2012
29
Brooke-Spiegler syndrome. (23286806)
2012
30
Radiofrequency ablation: a safe and economical modality in treatment of Brooke-Spiegler syndrome. (22948057)
2012
31
Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes. (22077640)
2012
32
Brooke-spiegler syndrome with multiple scalp cylindromas and bilateral parotid gland adenomas. (22606564)
2012
33
Comparing ablative fractionated resurfacing, photodynamic therapy, and topical imiquimod in the treatment of trichoblastomas of Brooke-Spiegler Syndrome: a case study. (21388481)
2011
34
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
35
New mutation in the CYLD gene within a family with Brooke-Spiegler syndrome. (20151946)
2010
36
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
37
Brooke-Spiegler syndrome: report of 10 patients from 8 families with novel germline mutations: evidence of diverse somatic mutations in the same patient regardless of tumor type. (20502185)
2010
38
A case of Brooke-Spiegler syndrome with a novel germline deep intronic mutation in the CYLD gene leading to intronic exonization, diverse somatic mutations, and unusual histology. (19668078)
2009
39
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
40
Dermoscopy of Brooke-Spiegler syndrome. (19620580)
2009
41
Familial cylindromatosis and brooke-spiegler syndrome: a review of current therapeutic approaches and the surgical challenges posed by two affected families. (19397670)
2009
42
Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. (19462465)
2009
43
Adenoid cystic carcinoma-like pattern in spiradenoma and spiradenocylindroma: a rare feature in sporadic neoplasms and those associated with Brooke-Spiegler syndrome. (19633533)
2009
44
Brooke-Spiegler syndrome with associated pegged teeth. (19090338)
2008
45
Brooke-Spiegler syndrome: report of a case of multiple cylindromas and trichoepitheliomas. (18718192)
2008
46
Brooke-Spiegler syndrome complicated by unilateral hearing loss. (18986490)
2008
47
Brooke-Spiegler syndrome. (19171990)
2008
48
Brooke-Spiegler syndrome - report of four families: treatment with CO2 laser. (17550556)
2007
49
Brooke-Spiegler syndrome. (17511943)
2007
50
Cylindroma transforming into basal cell carcinoma in a patient with Brooke-Spiegler syndrome. (21886698)
2007

Variations for Brooke-Spiegler Syndrome

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

70
id Symbol AA change Variation ID SNP ID
1CYLDp.Glu747GlyVAR_045967rs121908389

Clinvar genetic disease variations for Brooke-Spiegler Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CYLDNM_015247.2(CYLD): c.968_977delCAAGAGGTGT (p.Ser323Leufs)deletionPathogenicrs886040870GRCh38Chr 16, 50776224: 50776233
2CYLDNM_015247.2(CYLD): c.1537dupT (p.Cys513Leufs)duplicationPathogenicrs886040874GRCh38Chr 16, 50781264: 50781264
3CYLDNM_015247.2(CYLD): c.1599dupT (p.Val534Cysfs)duplicationPathogenicrs886040875GRCh38Chr 16, 50781326: 50781326
4CYLDNM_015247.2(CYLD): c.2108G> A (p.Arg703Lys)SNVPathogenicrs886040884GRCh38Chr 16, 50787852: 50787852
5CYLDNM_015247.2(CYLD): c.2138_2139dupAC (p.Phe714Thrfs)duplicationPathogenicrs886040885GRCh38Chr 16, 50791587: 50791588
6CYLDCYLD, 1-BP DEL, 2253GdeletionPathogenicChr na, -1: -1
7CYLDCYLD, 1-BP DEL, 2172AdeletionPathogenicChr na, -1: -1
8CYLDNM_015247.2(CYLD): c.2240A> G (p.Glu747Gly)SNVPathogenicrs121908389GRCh37Chr 16, 50825600: 50825600
9CYLDNM_015247.2(CYLD): c.2806C> T (p.Arg936Ter)SNVPathogenicrs121908390GRCh37Chr 16, 50830354: 50830354
10CYLDCYLD, 1-BP DUP, 1392TduplicationPathogenicChr na, -1: -1

Cosmic variations for Brooke-Spiegler Syndrome:

8 (show top 50)    (show all 338)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1COSM14452PTCH1skin,neck,carcinoma,basal cell carcinomac.2321G>Ap.G774E10
2COSM29072PTCH1skin,neck,carcinoma,basal cell carcinomac.1067+1G>Ap.?10
3COSM29053PTCH1skin,neck,carcinoma,basal cell carcinomac.833G>Ap.W278*10
4COSM516KRASskin,neck,carcinoma,basal cell carcinomac.34G>Tp.G12C10
5COSM17483PTCH1skin,neck,carcinoma,basal cell carcinomac.1729-1G>Tp.?10
6COSM17468PTCH1skin,neck,carcinoma,basal cell carcinomac.584G>Tp.R195M10
7COSM498HRASskin,neck,carcinoma,NSc.182A>Tp.Q61L9
8COSM44130TP53skin,NS,carcinoma,basal cell carcinomac.477C>Tp.A159A8
9COSM43920TP53skin,NS,carcinoma,basal cell carcinomac.680C>Tp.S227F8
10COSM10705TP53skin,NS,carcinoma,basal cell carcinomac.586C>Tp.R196*8
11COSM10654TP53skin,NS,carcinoma,basal cell carcinomac.637C>Tp.R213*8
12COSM14464PTCH1skin,NS,carcinoma,basal cell carcinomac.1804C>Tp.R602*8
13COSM45774TP53skin,NS,carcinoma,basal cell carcinomac.899C>Gp.P300R8
14COSM29068PTCH1skin,NS,carcinoma,basal cell carcinomac.1603-1G>Ap.?8
15COSM11084TP53skin,NS,carcinoma,basal cell carcinomac.517G>Ap.V173M8
16COSM10662TP53skin,NS,carcinoma,basal cell carcinomac.743G>Ap.R248Q8
17COSM29055PTCH1skin,NS,carcinoma,basal cell carcinomac.2050G>Tp.E684*8
18COSM14440PTCH1skin,NS,carcinoma,basal cell carcinomac.1093C>Tp.Q365*8
19COSM44097TP53skin,NS,carcinoma,basal cell carcinomac.530C>Tp.P177L8
20COSM44603TP53skin,NS,carcinoma,basal cell carcinomac.835G>Ap.G279R8
21COSM29048PTCH1skin,NS,carcinoma,basal cell carcinomac.1347+1G>Ap.?8
22COSM45424TP53skin,NS,carcinoma,basal cell carcinomac.781A>Tp.S261C8
23COSM26356PTCH1skin,NS,carcinoma,basal cell carcinomac.834G>Ap.W278*8
24COSM44435TP53skin,NS,carcinoma,basal cell carcinomac.96+1G>Ap.?8
25COSM564NRASskin,NS,carcinoma,basal cell carcinomac.35G>Ap.G12D8
26COSM10659TP53skin,NS,carcinoma,basal cell carcinomac.817C>Tp.R273C8
27COSM10728TP53skin,NS,carcinoma,basal cell carcinomac.839G>Ap.R280K8
28COSM17453PTCH1skin,NS,carcinoma,basal cell carcinomac.3196G>Tp.E1066*8
29COSM1651689PTCH1skin,NS,carcinoma,basal cell carcinomac.250C>Tp.Q84*8
30COSM43837TP53skin,NS,carcinoma,basal cell carcinomac.843C>Gp.D281E8
31COSM29071PTCH1skin,NS,carcinoma,basal cell carcinomac.3549+5G>Ap.?8
32COSM10749TP53skin,NS,carcinoma,basal cell carcinomac.830G>Tp.C277F8
33COSM17592PTCH1skin,NS,carcinoma,basal cell carcinomac.3605C>Tp.P1202L8
34COSM26370PTCH1skin,NS,carcinoma,basal cell carcinomac.286A>Tp.K96*8
35COSM26363PTCH1skin,NS,carcinoma,basal cell carcinomac.2446C>Tp.Q816*8
36COSM26378PTCH1skin,NS,carcinoma,basal cell carcinomac.1848-1G>Ap.?8
37COSM144244PTCH1skin,NS,carcinoma,basal cell carcinomac.994A>Tp.R332*8
38COSM483HRASskin,NS,carcinoma,basal cell carcinomac.35G>Tp.G12V8
39COSM17600PTCH1skin,NS,carcinoma,basal cell carcinomac.2207C>Tp.A736V8
40COSM17608PTCH1skin,NS,carcinoma,basal cell carcinomac.1161G>Ap.W387*8
41COSM17547PTCH1skin,NS,carcinoma,basal cell carcinomac.1511C>Ap.P504Q8
42COSM17495PTCH1skin,NS,carcinoma,basal cell carcinomac.1229G>Ap.S410N8
43COSM45322TP53skin,NS,carcinoma,basal cell carcinomac.757A>Gp.T253A8
44COSM17473PTCH1skin,NS,carcinoma,basal cell carcinomac.2308C>Tp.R770*8
45COSM17467PTCH1skin,NS,carcinoma,basal cell carcinomac.1726C>Tp.Q576*8
46COSM10995TP53skin,NS,carcinoma,basal cell carcinomac.580C>Tp.L194F8
47COSM17598PTCH1skin,NS,carcinoma,basal cell carcinomac.550C>Tp.Q184*8
48COSM43582TP53skin,NS,carcinoma,basal cell carcinomac.454C>Tp.P152S8
49COSM10656TP53skin,NS,carcinoma,basal cell carcinomac.742C>Tp.R248W8
50COSM17490PTCH1skin,NS,carcinoma,basal cell carcinomac.3584C>Tp.T1195I8

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 pathwaysScoreTop Affiliating Genes
19.3KRT14, TP53
29.1KRT8, TP53
3
Show member pathways
9.0KRT14, KRT8

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:003049610.0CYLD, PTCH1
2cell peripheryGO:00719449.7KRT14, KRT8
3intermediate filamentGO:00058829.7KRT14, KRT8
4keratin filamentGO:00450959.6KRT14, KRT8
5nuclear matrixGO:00163639.1KRT8, TP53

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

idNameGO IDScoreTop Affiliating Genes
1epidermis developmentGO:00085449.8KRT14, PTCH1
2regulation of mitotic cell cycleGO:00073469.5CYLD, PTCH1

Sources for Brooke-Spiegler Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet