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 49 10 45 22 23 12 51 67 65
Spiegler-Brooke Syndrome 49 11 45 23 67 24
Brss 45 23 67
Bss 22 23 67
Ancell-Spiegler Cylindromas 45 65
 
Sbs 45 67
Eccrine Dermal Cylindroma 65
Cyld Cutaneous Syndrome 51
Schilbach-Rott Syndrome 65

Characteristics:

HPO:

61
brooke-spiegler syndrome:
Onset and clinical course: adult onset
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 605041
Disease Ontology10 DOID:0050693
Orphanet51 79493
UMLS via Orphanet66 C1857941
MESH via Orphanet37 C536611
MedGen34 C1857941
MeSH36 D018280
UMLS65 C1857941, C1305968, C1851526 C1834038, more

Summaries for Brooke-Spiegler Syndrome

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NIH Rare Diseases:45 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 bernard-soulier syndrome, type c and sebastian syndrome, and has symptoms including neoplasmand milia. An important gene associated with Brooke-Spiegler Syndrome is CYLD (CYLD Lysine 63 Deubiquitinase), and among its related pathways are Osteoclast differentiation and Canonical NF-kappaB pathway. Affiliated tissues include skin, salivary gland and eye, and related mouse phenotypes are pigmentation and endocrine/exocrine gland.

Genetics Home Reference:23 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:49 Brooke-Spiegler syndrome is an autosomal dominant disorder classically characterized by the appearance of multiple skin... (605041) more...

UniProtKB/Swiss-Prot:67 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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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 neoplasm HP:0002664
2 milia HP:0001056

Drugs & Therapeutics for Brooke-Spiegler Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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 Syndrome22 CYLD

Anatomical Context for Brooke-Spiegler Syndrome

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MalaCards organs/tissues related to Brooke-Spiegler Syndrome:

33
Skin, Salivary gland, Eye, T cells, Smooth muscle, Endothelial, Neutrophil

Animal Models for Brooke-Spiegler Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Brooke-Spiegler Syndrome:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3IKBKG, PTCH1, TP53
2MP:00053798.8CYLD, IKBKG, PTCH1, TP53
3MP:00020068.8CYLD, IKBKG, PTCH1, TP53
4MP:00028738.8CYLD, IKBKG, PTCH1, TP53
5MP:00107718.8CYLD, IKBKG, PTCH1, TP53
6MP:00053818.7CYLD, IKBKG, PTCH1, TP53
7MP:00053867.9CYLD, IKBKG, PTCH1, TP53, USP7
8MP:00107687.8CYLD, IKBKG, PTCH1, TP53, USP7
9MP:00053787.8CYLD, IKBKG, PTCH1, TP53, USP7

Publications for Brooke-Spiegler Syndrome

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Articles related to Brooke-Spiegler Syndrome:

(show top 50)    (show all 68)
idTitleAuthorsYear
1
Is Early Onset Androgenic Alopecia a Marker of Metabolic Syndrome and Carotid Artery Atherosclerosis in Young Indian Male Patients? (26903742)
2015
2
CLIP-170 tethers kinetochores to microtubule plus ends against poleward force by dynein for stable kinetochore-microtubule attachment. (26231764)
2015
3
Childhood dual burden of under- and overnutrition in low- and middle-income countries: a critical review. (25076771)
2014
4
CXCL10-CXCR3 enhances the development of neutrophil-mediated fulminant lung injury of viral and nonviral origin. (23144331)
2013
5
The clinical impact of ponatinib on the risk of bleeding in patients with chronic myeloid leukemia. (24091930)
2013
6
PPARI^ potentiates anticancer effects of gemcitabine on human pancreatic cancer cells. (22020928)
2012
7
Factors affecting amputation-free survival rates in critical limb ischemia. (22357163)
2012
8
Images in emergency medicine. Young man with abdominal pain. Large bowel intussusception caused by an adenomatous polyp. (22340812)
2012
9
Paracoccidioidomycosis in a dog: case report of generalized lymphadenomegaly. (21424604)
2011
10
Morphometric analysis of optic nerves and retina from an end-stage retinitis pigmentosa patient with an implanted active epiretinal array. (21296811)
2011
11
Fibroblast growth factor-21 may mediate growth hormone resistance in anorexia nervosa. (19926712)
2010
12
Lower airway anomalies in infants with laryngomalacia. (20428972)
2010
13
Mcl-1 is required for melanoma cell resistance to anoikis. (19372583)
2009
14
Na,K-adenosine triphosphatase alpha1-subunit predicts survival of renal clear cell carcinoma. (18006011)
2008
15
Microscopic colitis with giant cells: a clinico-pathological review of 11 cases and comparison with microscopic colitis without giant cells. (18985521)
2008
16
Maternal embryonic leucine zipper kinase is a key regulator of the proliferation of malignant brain tumors, including brain tumor stem cells. (17722061)
2008
17
A bacterial cytotoxin identifies the RhoA exchange factor Net1 as a key effector in the response to DNA damage. (18509476)
2008
18
Recent advance in the central regulation of GI functions with special reference to apolipoprotein A-IV, pancreatic polypeptide and orexin]. (17611375)
2007
19
Antianginal efficacy and safety of ivabradine compared with amlodipine in patients with stable effort angina pectoris: a 3-month randomised, double-blind, multicentre, noninferiority trial. (17335297)
2007
20
Laryngeal tuberculosis presenting as supraglottic carcinoma: case report and literature review. (16910293)
2006
21
Angiodysplasia and Noonan syndrome: a new association. (16650203)
2006
22
Identification of a cell polarity-related protein, Lin-7B, as a binding partner for a Rho effector, Rhotekin, and their possible interaction in neurons. (16979770)
2006
23
Leukotriene B4 pathway regulates the fate of the hematopoietic stem cells. (15761251)
2005
24
Structure of the apoptotic protease-activating factor 1 bound to ADP. (15829969)
2005
25
Amino acids mediate mTOR/raptor signaling through activation of class 3 phosphatidylinositol 3OH-kinase. (16176982)
2005
26
Associations of the IL12B promoter polymorphism in longitudinal data from asthmatic patients 7 to 42 years of age. (15007350)
2004
27
MLK3 is required for mitogen activation of B-Raf, ERK and cell proliferation. (15258589)
2004
28
Update on gene therapy of inherited immune deficiencies. (14601519)
2003
29
Factors of significance for mobility in children with myelomeningocele. (12710647)
2003
30
Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. (12427653)
2002
31
Raloxifene acutely stimulates nitric oxide release from human endothelial cells via an activation of endothelial nitric oxide synthase. (10946913)
2000
32
Gonorrhea, chlamydia and the sexual network: pushing the envelope. (10782744)
2000
33
Cytogenetic diagnosis of fragile X syndrome: study of 305 suspected cases in Saudi Arabia. (17322660)
2000
34
Angiotensin II signal transduction in vascular smooth muscle: pathways activated by specific tyrosine kinases. (9892142)
1999
35
Kinetics of Kaposi's sarcoma-associated herpesvirus gene expression. (9971806)
1999
36
Tumor promoter benzoyl peroxide induces sulfhydryl oxidation in protein kinase C: its reversibility is related to the cellular resistance to peroxide-induced cytotoxicity. (10068446)
1999
37
Presence and activity of cytochrome P450 isoforms in minipig liver microsomes. Comparison with human liver samples. (9443853)
1998
38
Increase in the peripheral lymphocyte populations expressing CD54 (ICAM-1) after hyperthermic isolated limb perfusion in patients with malignant melanoma: an analysis of four cases. (9651826)
1998
39
Comparison of relative potencies of i.v. and i.c.v. administered 8-OH-DPAT gives evidence of different sites of action for hypothermia, lower lip retraction and tail flicks. (9105876)
1997
40
Restricted expression of homeobox genes distinguishes fetal from adult human smooth muscle cells. (8570656)
1996
41
Risk of small field of view in lumbar spine computed tomography for assumed lumbar disc herniation: beware contained ruptured aortic aneurysm. (7605320)
1995
42
Hemiparesis in a girl with cystinosis and renal transplant. (7957435)
1994
43
Different frequencies of diabetic complications in insulin-treated patients with diabetes of comparable duration, in relation to age at onset of diabetes. (1462716)
1992
44
A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis. (1677832)
1991
45
Within-mouth correlations for indicators of the host response in gingival crevicular fluid. (1702287)
1990
46
Growth of the pulmonary artery after neonatal balloon dilatation of the right ventricular outflow tract in an infant with the tetralogy of Fallot and atrioventricular septal defect. (2474311)
1989
47
Computed tomography of hydrocele of the tunica vaginalis. (3968269)
1985
48
Acute upper airway obstruction: croup and epiglottitis. (7031576)
1981
49
Horner's syndrome in the horse: experimental induction and a case report. (580241)
1978
50
Pityriasis Rubra Pilaris. (19977732)
1914

Variations for Brooke-Spiegler Syndrome

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

67
id Symbol AA change Variation ID SNP ID
1CYLDp.Glu747GlyVAR_045967

Clinvar genetic disease variations for Brooke-Spiegler Syndrome:

5
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 top 50)    (show all 1175)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1COSM44097TP53skin,NS,carcinoma,basal cell carcinoma3
2COSM44097TP53skin,NS,carcinoma,basal cell carcinoma3
3COSM44097TP53skin,NS,carcinoma,basal cell carcinoma3
4COSM44097TP53skin,NS,carcinoma,basal cell carcinoma3
5COSM44097TP53skin,NS,carcinoma,basal cell carcinoma3
6COSM44097TP53skin,NS,carcinoma,basal cell carcinoma3
7COSM44097TP53skin,NS,carcinoma,basal cell carcinoma3
8COSM44120TP53skin,NS,carcinoma,basal cell carcinoma3
9COSM44097TP53skin,NS,carcinoma,basal cell carcinoma3
10COSM44097TP53skin,NS,carcinoma,basal cell carcinoma3
11COSM44097TP53skin,NS,carcinoma,basal cell carcinoma3
12COSM44097TP53skin,NS,carcinoma,basal cell carcinoma3
13COSM44097TP53skin,NS,carcinoma,basal cell carcinoma3
14COSM44071TP53skin,NS,carcinoma,basal cell carcinoma3
15COSM44071TP53skin,NS,carcinoma,basal cell carcinoma3
16COSM43920TP53skin,NS,carcinoma,basal cell carcinoma3
17COSM43920TP53skin,NS,carcinoma,basal cell carcinoma3
18COSM44071TP53skin,NS,carcinoma,basal cell carcinoma3
19COSM44094TP53salivary gland,parotid,carcinoma,NS3
20COSM44096TP53skin,NS,carcinoma,basal cell carcinoma3
21COSM44096TP53skin,NS,carcinoma,basal cell carcinoma3
22COSM44096TP53skin,NS,carcinoma,basal cell carcinoma3
23COSM44094TP53salivary gland,parotid,carcinoma,NS3
24COSM44120TP53skin,NS,carcinoma,basal cell carcinoma3
25COSM44126TP53skin,NS,carcinoma,basal cell carcinoma3
26COSM44398TP53skin,NS,carcinoma,basal cell carcinoma3
27COSM44310TP53skin,NS,carcinoma,basal cell carcinoma3
28COSM44310TP53skin,NS,carcinoma,basal cell carcinoma3
29COSM44310TP53skin,NS,carcinoma,basal cell carcinoma3
30COSM44398TP53skin,NS,carcinoma,basal cell carcinoma3
31COSM44435TP53skin,NS,carcinoma,basal cell carcinoma3
32COSM44603TP53skin,NS,carcinoma,basal cell carcinoma3
33COSM44552TP53skin,NS,carcinoma,basal cell carcinoma3
34COSM44552TP53skin,NS,carcinoma,basal cell carcinoma3
35COSM44435TP53skin,NS,carcinoma,basal cell carcinoma3
36COSM44295TP53skin,NS,carcinoma,basal cell carcinoma3
37COSM44295TP53skin,NS,carcinoma,basal cell carcinoma3
38COSM44226TP53skin,NS,carcinoma,basal cell carcinoma3
39COSM44130TP53skin,NS,carcinoma,basal cell carcinoma3
40COSM44130TP53skin,NS,carcinoma,basal cell carcinoma3
41COSM44126TP53skin,NS,carcinoma,basal cell carcinoma3
42COSM44226TP53skin,NS,carcinoma,basal cell carcinoma3
43COSM44226TP53skin,NS,carcinoma,basal cell carcinoma3
44COSM44241TP53skin,NS,carcinoma,basal cell carcinoma3
45COSM44241TP53skin,NS,carcinoma,basal cell carcinoma3
46COSM44227TP53skin,NS,carcinoma,basal cell carcinoma3
47COSM44227TP53skin,NS,carcinoma,basal cell carcinoma3
48COSM43918TP53salivary gland,parotid,carcinoma,NS3
49COSM43918TP53salivary gland,parotid,carcinoma,NS3
50COSM43616TP53skin,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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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
1PML bodyGO:00166059.0TP53, USP7

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

idNameGO IDScoreTop Affiliating Genes
1nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:00358729.7CYLD, IKBKG
2cellular response to DNA damage stimulusGO:00069749.3IKBKG, TP53
3nucleotide-excision repairGO:00062898.9TP53, USP7

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

idNameGO IDScoreTop Affiliating Genes
1protein kinase bindingGO:00199019.4CYLD, TP53

Sources for Brooke-Spiegler Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet