BRSS
MCID: BRK001
MIFTS: 48

Brooke-Spiegler Syndrome (BRSS) malady

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

Aliases & Classifications for Brooke-Spiegler Syndrome

Aliases & Descriptions for Brooke-Spiegler Syndrome:

Name: Brooke-Spiegler Syndrome 54 12 50 24 25 56 66 14 69
Spiegler-Brooke Syndrome 54 50 25 66 29 13
Brss 50 25 66
Bss 24 25 66
Ancell-Spiegler Cylindromas 50 69
Sbs 50 66
Carcinoma, Skin Appendage 42
Eccrine Dermal Cylindroma 69
Schilbach-Rott Syndrome 69
Cyld Cutaneous Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
brooke-spiegler syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

HPO:

32
brooke-spiegler syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM 54 605041
Disease Ontology 12 DOID:0050693
Orphanet 56 ORPHA79493
UMLS via Orphanet 70 C1857941
MESH via Orphanet 43 C536611
MedGen 40 C1857941
MeSH 42 D018280

Summaries for Brooke-Spiegler Syndrome

NIH Rare Diseases : 50 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 bronchitis and sick building syndrome, and has symptoms including neoplasm and milia. An important gene associated with Brooke-Spiegler Syndrome is CYLD (CYLD Lysine 63 Deubiquitinase), and among its related pathways/superpathways are Cytoskeleton remodeling Neurofilaments and Glucocorticoid receptor regulatory network. The drugs Technetium tc 99m sulfur colloid and nivolumab have been mentioned in the context of this disorder. Affiliated tissues include skin, salivary gland and eye, and related phenotypes are digestive/alimentary and growth/size/body region

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

UniProtKB/Swiss-Prot : 66 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

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

(show top 50) (show all 95)
id Related Disease Score Top Affiliating Genes
1 bronchitis 30.1 PTCH1 TP53
2 sick building syndrome 11.3
3 cylindromatosis, familial 11.2
4 basal cell carcinoma 1 11.2
5 camptocormism 11.2
6 short bowel syndrome 11.2
7 neural tube defects 11.2
8 bernard-soulier syndrome, type c 11.0
9 brown-sequard syndrome 11.0
10 sebastian syndrome 10.8
11 barber-say syndrome 10.8
12 multiple familial trichoepithelioma 10.5
13 basal cell carcinoma 10.4
14 spiradenoma 10.4
15 malignant cylindroma 10.2
16 dermis tumor 10.2 CYLD TP53
17 beemer ertbruggen syndrome 10.1 CYLD PTCH1
18 cervical benign neoplasm 10.1 PTCH1 TP53
19 clear cell meningioma 10.1 PTCH1 TP53
20 childhood central nervous system primitive neuroectodermal neoplasm 10.1 PTCH1 TP53
21 clear cell variant infiltrating bladder urothelial carcinoma 10.1 PTCH1 TP53
22 statin toxicity 10.1 PTCH1 TP53
23 heavy chain disease 10.1 CYLD KRT14
24 external ear basal cell carcinoma 10.1 KRT14 PTCH1
25 anal margin basal cell carcinoma 10.1 KRT14 PTCH1
26 secondary corneal edema 10.1 KRT14 TP53
27 extragonadal germ cell cancer 10.1 PTCH1 TP53
28 prostate rhabdomyosarcoma 10.1 PTCH1 TP53
29 multicentric papillary thyroid carcinoma 10.1 KRT14 TP53
30 herpes simplex encephalitic 6 10.1 PTCH1 TP53
31 psoriasis 10.1
32 syringoma 10.1
33 neurofibromatosis, type 1 10.1
34 adenoiditis 10.1
35 lymphoma 10.1
36 adenoma 10.1
37 neurofibromatosis 10.1
38 estrogen-receptor positive breast cancer 10.0 KRT14 TP53
39 caroli disease 10.0 KRT14 PTCH1
40 alpha chain disease 10.0 PTCH1 TP53
41 lacrimal gland squamous cell carcinoma 10.0 KRT8 TP53
42 ovarian embryonal carcinoma 10.0 KRT8 TP53
43 pancreatic cancer 10.0 KRT8 TP53
44 mediastinum angiosarcoma 10.0 KRT14 TP53
45 malignant adult ependymoma 10.0 KRT8 TP53
46 benign ependymoma 10.0 KRT8 TP53
47 onychodystrophy-anonychia 10.0 KRT14 KRT8
48 thoracic outlet syndrome 10.0 PTCH1 TP53
49 nodular goiter 10.0 PTCH1 TP53
50 vulvar alveolar soft part sarcoma 10.0 KRT14 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

Symptoms by clinical synopsis from OMIM:

605041

Clinical features from OMIM:

605041

Human phenotypes related to Brooke-Spiegler Syndrome:

32
id Description HPO Frequency HPO Source Accession
1 neoplasm 32 HP:0002664
2 milia 32 HP:0001056

MGI Mouse Phenotypes related to Brooke-Spiegler Syndrome:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.89 KRT14 KRT8 PTCH1 TP53 CYLD
2 growth/size/body region MP:0005378 9.85 TP53 CYLD KRT14 KRT8 PTCH1
3 hematopoietic system MP:0005397 9.83 CYLD KRT14 KRT8 PTCH1 TP53
4 homeostasis/metabolism MP:0005376 9.8 CYLD KRT14 KRT8 PTCH1 TP53
5 endocrine/exocrine gland MP:0005379 9.78 CYLD KRT14 PTCH1 TP53
6 immune system MP:0005387 9.77 CYLD KRT14 KRT8 PTCH1 TP53
7 integument MP:0010771 9.62 CYLD KRT14 PTCH1 TP53
8 neoplasm MP:0002006 9.56 CYLD KRT14 PTCH1 TP53
9 pigmentation MP:0001186 9.33 KRT14 PTCH1 TP53
10 reproductive system MP:0005389 9.26 KRT14 KRT8 PTCH1 TP53
11 respiratory system MP:0005388 8.92 CYLD KRT14 PTCH1 TP53

Drugs & Therapeutics for Brooke-Spiegler Syndrome

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

(show all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Technetium tc 99m sulfur colloid Approved Phase 2
2
nivolumab Approved Phase 2 946414-94-4
3 Anesthetics Phase 2
4 Radiopharmaceuticals Phase 2
5 Antibodies Phase 2
6 Antibodies, Monoclonal Phase 2
7 Immunoglobulins Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Sentinel Lymph Node (SLN) Biopsy for Sebaceous Gland Carcinoma of Eyelid Recruiting NCT00832429 Phase 2
2 Talimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin Cancers Not yet recruiting NCT02978625 Phase 2
3 Trial of Radiotherapy and Panitumumab in Salivary Gland Malignancies Withdrawn NCT00984217 Phase 2
4 Spanish Registry of Mohs Surgery Recruiting NCT02310503

Search NIH Clinical Center for Brooke-Spiegler Syndrome

Cochrane evidence based reviews: carcinoma, skin appendage

Genetic Tests for Brooke-Spiegler Syndrome

Genetic tests related to Brooke-Spiegler Syndrome:

id Genetic test Affiliating Genes
1 Spiegler-Brooke Syndrome 29
2 Brooke-Spiegler Syndrome 24 CYLD

Anatomical Context for Brooke-Spiegler Syndrome

MalaCards organs/tissues related to Brooke-Spiegler Syndrome:

39
Skin, Salivary Gland, Eye

Publications for Brooke-Spiegler Syndrome

Articles related to Brooke-Spiegler Syndrome:

(show top 50) (show all 74)
id Title Authors Year
1
A Simple and Effective Method for Treating Cylindromas in Brooke-Spiegler Syndrome. ( 28388989 )
2017
2
Sporadic Trichoblastomas and Those Occurring in the Setting of Multiple Familial Trichoepithelioma/Brooke-Spiegler Syndrome Show No BAP1 Loss. ( 28098597 )
2017
3
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
4
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
5
Brooke-Spiegler Syndrome and Phenotypic Variants: An Update. ( 26971504 )
2016
6
<i>CYLD</i> GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas. ( 25737804 )
2015
7
Brooke-Spiegler syndrome clinically misdiagnosed as neurofibromatosis type 1. ( 25502717 )
2015
8
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
9
Brooke-Spiegler Syndrome - an underrecognized cause of multiple familial scalp tumors: report of a new germline mutation. ( 26512302 )
2015
10
Malignant cylindroma in a patient with Brooke-Spiegler syndrome. ( 26114054 )
2015
11
A novel CYLD gene mutation and multiple basal cell carcinomas in a patient with Brooke-Spiegler syndrome. ( 25976026 )
2015
12
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
13
Basal Cell Carcinoma in a Patient With Brooke-Spiegler Syndrome. ( 26861436 )
2015
14
A novel CYLD germline mutation in Brooke-Spiegler syndrome. ( 25131725 )
2014
15
Brooke-spiegler syndrome: a rare entity. ( 24587929 )
2014
16
Syndrome in question. Brooke-Spiegler syndrome. ( 24626672 )
2014
17
Large Germline Deletions of the CYLD Gene in Patients With Brooke-Spiegler Syndrome and Multiple Familial Trichoepithelioma. ( 25347032 )
2014
18
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
19
Late-onset Brooke-Spiegler syndrome with family histories of various cancers. ( 24628357 )
2014
20
Enucleation of Cylindromas in Brooke-Spiegler Syndrome: A Novel Surgical Technique. ( 25361203 )
2014
21
A novel germline mutation in the CYLD gene in a Slovak patient with Brooke-Spiegler syndrome. ( 23641715 )
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
A new Cylindromatosis (CYLD) gene mutation in a case of Brooke-Spiegler syndrome masquerading as basal cell carcinoma of the eyelids. ( 22689134 )
2013
24
Brooke-Spiegler syndrome associated with ulcerative rectosigmoiditis. ( 22735777 )
2013
25
Atypical Adnexal Tumors Adjacent to Basal Cell Carcinoma: A Difficult Problem in Patients with Brooke-Spiegler Syndrome Undergoing Mohs Surgery. ( 24372646 )
2013
26
Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma and eccrine spiradenoma. ( 24261740 )
2013
27
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
28
Radiofrequency ablation: a safe and economical modality in treatment of Brooke-Spiegler syndrome. ( 22948057 )
2012
29
A novel missense mutation of the CYLD gene identified in a Hungarian family with Brooke-Spiegler syndrome. ( 23171463 )
2012
30
Brooke-spiegler syndrome with multiple scalp cylindromas and bilateral parotid gland adenomas. ( 22606564 )
2012
31
Brooke-Spiegler syndrome. ( 23286806 )
2012
32
Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes. ( 22077640 )
2012
33
Brooke-spiegler syndrome: a rare entity. ( 22628987 )
2012
34
Basal cell carcinoma arising in association with trichoepithelioma in a case of Brooke-Spiegler syndrome with a novel genetic mutation in CYLD. ( 22882113 )
2012
35
Comparing ablative fractionated resurfacing, photodynamic therapy, and topical imiquimod in the treatment of trichoblastomas of Brooke-Spiegler Syndrome: a case study. ( 21388481 )
2011
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
New mutation in the CYLD gene within a family with Brooke-Spiegler syndrome. ( 20151946 )
2010
39
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
40
Dermoscopy of Brooke-Spiegler syndrome. ( 19620580 )
2009
41
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
42
Adenoid cystic carcinoma-like pattern in spiradenoma and spiradenocylindroma: a rare feature in sporadic neoplasms and those associated with Brooke-Spiegler syndrome. ( 19633533 )
2009
43
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
44
Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. ( 19462465 )
2009
45
Familial cylindromatosis and brooke-spiegler syndrome: a review of current therapeutic approaches and the surgical challenges posed by two affected families. ( 19397670 )
2009
46
Brooke-Spiegler syndrome. ( 19171990 )
2008
47
Brooke-Spiegler syndrome: report of a case of multiple cylindromas and trichoepitheliomas. ( 18718192 )
2008
48
Brooke-Spiegler syndrome with associated pegged teeth. ( 19090338 )
2008
49
Brooke-Spiegler syndrome complicated by unilateral hearing loss. ( 18986490 )
2008
50
Brooke-Spiegler syndrome. ( 17511943 )
2007

Variations for Brooke-Spiegler Syndrome

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

66
id Symbol AA change Variation ID SNP ID
1 CYLD p.Glu747Gly VAR_045967 rs121908389

ClinVar genetic disease variations for Brooke-Spiegler Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CYLD CYLD, 1-BP DEL, 2253G deletion Pathogenic
2 CYLD CYLD, 1-BP DEL, 2172A deletion Pathogenic
3 CYLD NM_015247.2(CYLD): c.2240A> G (p.Glu747Gly) single nucleotide variant Pathogenic rs121908389 GRCh37 Chromosome 16, 50825600: 50825600
4 CYLD NM_015247.2(CYLD): c.2806C> T (p.Arg936Ter) single nucleotide variant Pathogenic rs121908390 GRCh37 Chromosome 16, 50830354: 50830354
5 CYLD CYLD, 1-BP DUP, 1392T duplication Pathogenic
6 CYLD NM_015247.2(CYLD): c.968_977delCAAGAGGTGT (p.Ser323Leufs) deletion Pathogenic rs886040870 GRCh38 Chromosome 16, 50776224: 50776233
7 CYLD NM_015247.2(CYLD): c.1537dupT (p.Cys513Leufs) duplication Pathogenic rs886040874 GRCh38 Chromosome 16, 50781264: 50781264
8 CYLD NM_015247.2(CYLD): c.1599dupT (p.Val534Cysfs) duplication Pathogenic rs886040875 GRCh38 Chromosome 16, 50781326: 50781326
9 CYLD NM_015247.2(CYLD): c.2108G> A (p.Arg703Lys) single nucleotide variant Pathogenic rs886040884 GRCh38 Chromosome 16, 50787852: 50787852
10 CYLD NM_015247.2(CYLD): c.2138_2139dupAC (p.Phe714Thrfs) duplication Pathogenic rs886040885 GRCh38 Chromosome 16, 50791587: 50791588

Cosmic variations for Brooke-Spiegler Syndrome:

9 (show top 50) (show all 348)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM14452 PTCH1 skin,neck,carcinoma,basal cell carcinoma c.2321G>A p.G774E 10
2 COSM29072 PTCH1 skin,neck,carcinoma,basal cell carcinoma c.1067+1G>A p.? 10
3 COSM29053 PTCH1 skin,neck,carcinoma,basal cell carcinoma c.833G>A p.W278* 10
4 COSM17483 PTCH1 skin,neck,carcinoma,basal cell carcinoma c.1729-1G>T p.? 10
5 COSM17468 PTCH1 skin,neck,carcinoma,basal cell carcinoma c.584G>T p.R195M 10
6 COSM498 HRAS skin,neck,carcinoma,NS c.182A>T p.Q61L 9
7 COSM44130 TP53 skin,NS,carcinoma,basal cell carcinoma c.477C>T p.A159A 8
8 COSM43920 TP53 skin,NS,carcinoma,basal cell carcinoma c.680C>T p.S227F 8
9 COSM10705 TP53 skin,NS,carcinoma,basal cell carcinoma c.586C>T p.R196* 8
10 COSM10654 TP53 skin,NS,carcinoma,basal cell carcinoma c.637C>T p.R213* 8
11 COSM45774 TP53 skin,NS,carcinoma,basal cell carcinoma c.899C>G p.P300R 8
12 COSM11084 TP53 skin,NS,carcinoma,basal cell carcinoma c.517G>A p.V173M 8
13 COSM10662 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>A p.R248Q 8
14 COSM44097 TP53 skin,NS,carcinoma,basal cell carcinoma c.530C>T p.P177L 8
15 COSM44603 TP53 skin,NS,carcinoma,basal cell carcinoma c.835G>A p.G279R 8
16 COSM45424 TP53 skin,NS,carcinoma,basal cell carcinoma c.781A>T p.S261C 8
17 COSM44435 TP53 skin,NS,carcinoma,basal cell carcinoma c.96+1G>A p.? 8
18 COSM10659 TP53 skin,NS,carcinoma,basal cell carcinoma c.817C>T p.R273C 8
19 COSM10728 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 8
20 COSM43837 TP53 skin,NS,carcinoma,basal cell carcinoma c.843C>G p.D281E 8
21 COSM10749 TP53 skin,NS,carcinoma,basal cell carcinoma c.830G>T p.C277F 8
22 COSM45322 TP53 skin,NS,carcinoma,basal cell carcinoma c.757A>G p.T253A 8
23 COSM10995 TP53 skin,NS,carcinoma,basal cell carcinoma c.580C>T p.L194F 8
24 COSM43582 TP53 skin,NS,carcinoma,basal cell carcinoma c.454C>T p.P152S 8
25 COSM10656 TP53 skin,NS,carcinoma,basal cell carcinoma c.742C>T p.R248W 8
26 COSM10650 TP53 skin,NS,carcinoma,basal cell carcinoma c.529C>T p.P177S 8
27 COSM11152 TP53 skin,NS,carcinoma,basal cell carcinoma c.700T>C p.Y234H 8
28 COSM10726 TP53 skin,NS,carcinoma,basal cell carcinoma c.856G>A p.E286K 8
29 COSM10794 TP53 skin,NS,carcinoma,basal cell carcinoma c.796G>A p.G266R 8
30 COSM10939 TP53 skin,NS,carcinoma,basal cell carcinoma c.832C>T p.P278S 8
31 COSM10648 TP53 skin,NS,carcinoma,basal cell carcinoma c.524G>A p.R175H 8
32 COSM45304 TP53 skin,NS,carcinoma,basal cell carcinoma c.375+1G>A p.? 8
33 COSM44398 TP53 skin,NS,carcinoma,basal cell carcinoma c.682G>A p.D228N 8
34 COSM44606 TP53 skin,NS,carcinoma,basal cell carcinoma c.665C>T p.P222L 8
35 COSM44310 TP53 skin,NS,carcinoma,basal cell carcinoma c.738G>A p.M246I 8
36 COSM11376 TP53 skin,NS,carcinoma,basal cell carcinoma c.737T>G p.M246R 8
37 COSM10867 TP53 skin,NS,carcinoma,basal cell carcinoma c.797G>A p.G266E 8
38 COSM10812 TP53 skin,NS,carcinoma,basal cell carcinoma c.722C>T p.S241F 8
39 COSM10704 TP53 skin,NS,carcinoma,basal cell carcinoma c.844C>T p.R282W 8
40 COSM43842 TP53 skin,NS,carcinoma,basal cell carcinoma c.770T>C p.L257P 8
41 COSM6549 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>T p.R248L 8
42 COSM45733 TP53 skin,NS,carcinoma,basal cell carcinoma c.432G>A p.Q144Q 8
43 COSM6932 TP53 skin,NS,carcinoma,basal cell carcinoma c.733G>A p.G245S 8
44 COSM44226 TP53 skin,NS,carcinoma,basal cell carcinoma c.380C>T p.S127F 8
45 COSM10768 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 8
46 COSM10905 TP53 skin,NS,carcinoma,basal cell carcinoma c.451C>T p.P151S 8
47 COSM43714 TP53 skin,NS,carcinoma,basal cell carcinoma c.836G>A p.G279E 8
48 COSM43583 TP53 skin,NS,carcinoma,basal cell carcinoma c.425C>T p.P142L 8
49 COSM10863 TP53 skin,NS,carcinoma,basal cell carcinoma c.833C>T p.P278L 8
50 COSM11449 TP53 skin,NS,carcinoma,basal cell carcinoma c.388C>T p.L130F 8

Expression for Brooke-Spiegler Syndrome

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

Pathways for Brooke-Spiegler Syndrome

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.19 KRT14 KRT8
2 10.87 KRT14 TP53
3 10.17 KRT8 TP53

GO Terms for Brooke-Spiegler Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 nuclear matrix GO:0016363 9.16 KRT8 TP53
2 keratin filament GO:0045095 8.96 KRT14 KRT8
3 cell periphery GO:0071944 8.62 KRT14 KRT8

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

id Name GO ID Score Top Affiliating Genes
1 cornification GO:0070268 9.16 KRT14 KRT8
2 epidermis development GO:0008544 8.96 KRT14 PTCH1
3 regulation of mitotic cell cycle GO:0007346 8.62 CYLD PTCH1

Sources for Brooke-Spiegler Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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