BRSS
MCID: BRK001
MIFTS: 60

Brooke-Spiegler Syndrome (BRSS)

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

Aliases & Classifications for Brooke-Spiegler Syndrome

MalaCards integrated aliases for Brooke-Spiegler Syndrome:

Name: Brooke-Spiegler Syndrome 56 12 52 25 58 73 36 15 71
Spiegler-Brooke Syndrome 56 12 52 25 73 29 13 6 39
Brss 56 12 52 25 73
Sbs 56 12 52 73
Bss 56 12 25 73
Ancell-Spiegler Cylindromas 52 71
Cyld Cutaneous Syndrome 12 58
Spiegler-Brooke Syndrome; Sbs 56
Carcinoma, Skin Appendage 43
Eccrine Dermal Cylindroma 71
Familial Cylindromatosis 43
Skin Appendage Carcinoma 17
Schilbach-Rott Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
brooke-spiegler syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in early adulthood
allelic disorder to multiple familial trichoepithelioma 1 (mft1, ) and familial cylindromatosis (fc, )


HPO:

31
brooke-spiegler syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0050693
OMIM 56 605041
KEGG 36 H00827
MESH via Orphanet 44 C536611
UMLS via Orphanet 72 C1857941
Orphanet 58 ORPHA79493
MedGen 41 C1857941
UMLS 71 C1305968 C1834038 C1851526 more

Summaries for Brooke-Spiegler Syndrome

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. People with Brooke-Spiegler syndrome typically begin developing tumors in early adulthood. The tumors are most often found on the head and neck. They grow larger and increase in number over time. In severe cases, the tumors may get in the way of the eyes, ears, nose, or mouth and affect vision, hearing, or other functions. The tumors can be disfiguring and may contribute to depression or other psychological problems. For reasons that are unclear, females with Brooke-Spiegler syndrome are often more severely affected than males.

MalaCards based summary : Brooke-Spiegler Syndrome, also known as spiegler-brooke syndrome, is related to multiple familial trichoepithelioma and spiradenoma. An important gene associated with Brooke-Spiegler Syndrome is CYLD (CYLD Lysine 63 Deubiquitinase), and among its related pathways/superpathways are RIG-I-like receptor signaling pathway and Deubiquitination. The drugs nivolumab and Talimogene laherparepvec have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and salivary gland, and related phenotypes are facial palsy and hearing impairment

Disease Ontology : 12 A skin disease that is characterized by the development of several types of tumors from the skin, has material basis in heterozygous mutation in the CYLD gene on chromosome 16q12.

NIH Rare Diseases : 52 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.

OMIM : 56 Brooke-Spiegler syndrome is an autosomal dominant disorder classically 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 (Scheinfeld et al., 2003). Because BRSS, familial cylindromatosis, and MFT1 are allelic, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity (Gerretsen et al., 1995; Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008). Blake and Toro (2009) provided a review of Brooke-Spiegler syndrome and pathogenic mutations in the CYLD gene. (605041)

KEGG : 36 Brooke-Spiegler syndrome is an inherited disease characterized by multiple tumors of tissues derived from folliculo-sebaceous-apocrine unit, including cylindromas, trichoepitheliomas, and/or spiradenomas. It is an autosomal dominant condition.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Multiple familial trichoepithelioma is a cutaneous condition characterized by multiple cystic and solid... more...

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 437)
# Related Disease Score Top Affiliating Genes
1 multiple familial trichoepithelioma 33.6 CYLD BAP1
2 spiradenoma 31.3 VIM TP53 KRT7 KRT14 CYLD
3 syringoma 30.8 VIM KRT7 KRT19
4 spindle cell carcinoma 30.2 VIM KRT8 KRT7 KRT19 KRT14
5 basal cell carcinoma 29.9 TP53 PTCH1 KRT8 KRT7 KRT19 KRT14
6 pleural disease 29.8 TP53 H2AC18 BAP1
7 adenoid cystic carcinoma 29.7 VIM TP53 NFIB KRT7 KRT19 KRT14
8 renal cell carcinoma, nonpapillary 28.9 VIM TP53 KRT8 KRT7 KRT19 H2AC18
9 bernard-soulier syndrome 12.2
10 barber-say syndrome 12.0
11 cylindromatosis, familial 11.9
12 neural tube defects 11.9
13 short bowel syndrome 11.8
14 sick building syndrome 11.7
15 basal cell carcinoma 1 11.6
16 schilbach-rott syndrome 11.6
17 camptocormism 11.6
18 shaken baby syndrome 11.5
19 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 11.5
20 brown-sequard syndrome 11.4
21 cowden syndrome 1 11.2
22 congenital short bowel syndrome 11.2
23 trichoepithelioma, multiple familial, 1 10.6
24 adenoma 10.6
25 erythrokeratoderma ''en cocardes'' 10.6
26 rare genetic skin disease 10.6
27 anus basaloid carcinoma 10.5 KRT7 CYLD
28 eccrine adenocarcinoma 10.5 KRT7 CYLD
29 intrahepatic bile duct adenoma 10.5 KRT7 KRT19
30 breast hemangiopericytoma 10.5 KRT7 KRT19
31 fibroepithelial basal cell carcinoma 10.5 PTCH1 KRT14
32 benign breast adenomyoepithelioma 10.5 KRT7 KRT14
33 breast adenomyoepithelioma 10.5 KRT7 KRT14
34 renal pelvis adenocarcinoma 10.5 KRT7 KRT19
35 endolymphatic sac tumor 10.5 KRT8 KRT7
36 oncocytic breast carcinoma 10.5 KRT7 KRT14
37 vulvar apocrine adenocarcinoma 10.5 KRT7 KRT19
38 metatypical basal cell carcinoma 10.5 PTCH1 KRT7
39 mediastinum sarcoma 10.5 KRT7 KRT19
40 anal canal adenocarcinoma 10.5 KRT7 KRT19
41 ceruminous adenocarcinoma 10.5 KRT7 KRT14
42 subareolar duct papillomatosis 10.5 KRT8 KRT7
43 malignant cylindroma 10.5
44 nipple neoplasm 10.5 KRT8 KRT7
45 apocrine adenocarcinoma 10.5 KRT7 KRT14
46 breast myoepithelial neoplasm 10.5 KRT7 KRT14
47 rapidly involuting congenital hemangioma 10.5
48 ovarian germ cell teratoma 10.5 KRT7 KRT19
49 pancreatic foamy gland adenocarcinoma 10.5 TP53 KRT7
50 idiopathic corneal edema 10.5 KRT8 KRT19

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



Diseases related to Brooke-Spiegler Syndrome

Symptoms & Phenotypes for Brooke-Spiegler Syndrome

Human phenotypes related to Brooke-Spiegler Syndrome:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 facial palsy 58 Very rare (<4-1%)
2 hearing impairment 58 Very rare (<4-1%)
3 visual impairment 58 Very rare (<4-1%)
4 abnormal bleeding 58 Occasional (29-5%)
5 neoplasm 31 HP:0002664
6 skin ulcer 58 Occasional (29-5%)
7 abnormality of the face 58 Frequent (79-30%)
8 abnormality of the neck 58 Frequent (79-30%)
9 basal cell carcinoma 58 Occasional (29-5%)
10 salivary gland neoplasm 58 Very rare (<4-1%)
11 skin nodule 58 Frequent (79-30%)
12 milia 31 HP:0001056
13 abnormality of the scalp 58 Frequent (79-30%)
14 abnormality of the auditory canal 58 Very rare (<4-1%)
15 cylindroma 58 Very frequent (99-80%)
16 skin appendage neoplasm 58 Frequent (79-30%)
17 trichoepithelioma 58 Frequent (79-30%)
18 multiple cutaneous malignancies 58 Occasional (29-5%)
19 nodular changes affecting the eyelids 58 Occasional (29-5%)
20 skin-colored papule 58 Occasional (29-5%)
21 abnormality of the submandibular glands 58 Very rare (<4-1%)
22 abnormality of the sublingual glands 58 Very rare (<4-1%)

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin:
milia
cylindromas, multiple (usually occur on the scalp, but may also occur on the face, trunk, and extremities)
trichoepitheliomas, multiple (usually occur in the nasolabial folds, nose, or face)
spiradenomas

Neoplasia:
skin appendage tumors may show malignant transformation
parotid gland adenoma and adenocarcinoma

Clinical features from OMIM:

605041

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

26 (show all 29)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.9 CYLD H2AC18 IKBKG NFIB PTCH1 VIM
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.9 CYLD
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.9 NFIB
4 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.9 IKBKG
5 Increased shRNA abundance (Z-score > 2) GR00366-A-144 9.9 NFIB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.9 VIM
7 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.9 CYLD
8 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.9 H2AC18
9 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.9 VIM
10 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.9 NFIB VIM
11 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.9 PTCH1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.9 VIM
13 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.9 PTCH1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.9 VIM
15 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.9 PTCH1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.9 IKBKG
17 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.9 NFIB
18 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.9 IKBKG VIM
19 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.9 VIM
20 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.9 NFIB
21 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.9 H2AC18
22 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.9 IKBKG
23 Increased shRNA abundance (Z-score > 2) GR00366-A-51 9.9 CYLD
24 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.9 IKBKG
25 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.9 CYLD PTCH1 VIM
26 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.9 CYLD
27 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.9 H2AC18
28 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.9 VIM
29 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.9 H2AC18

MGI Mouse Phenotypes related to Brooke-Spiegler Syndrome:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.21 BAP1 CYLD IKBKG KRT14 KRT19 KRT7
2 growth/size/body region MP:0005378 10.17 BAP1 BCL3 CYLD IKBKG KRT14 KRT19
3 digestive/alimentary MP:0005381 10.13 BAP1 CYLD IKBKG KRT14 KRT19 KRT8
4 homeostasis/metabolism MP:0005376 10.11 BAP1 BCL3 CYLD IKBKG KRT14 KRT7
5 hematopoietic system MP:0005397 10.1 BAP1 BCL3 CYLD IKBKG KRT14 KRT8
6 endocrine/exocrine gland MP:0005379 10.06 BAP1 CYLD IKBKG KRT14 KRT19 NFIB
7 immune system MP:0005387 10.06 BAP1 BCL3 CYLD IKBKG KRT14 KRT19
8 craniofacial MP:0005382 10.04 BCL3 KRT14 KRT19 NFIB OTULIN PTCH1
9 mortality/aging MP:0010768 10.03 BAP1 BCL3 CYLD IKBKG KRT14 KRT19
10 neoplasm MP:0002006 9.7 BAP1 CYLD IKBKG KRT14 KRT19 PTCH1
11 reproductive system MP:0005389 9.56 BAP1 IKBKG KRT14 KRT19 KRT8 PTCH1
12 respiratory system MP:0005388 9.23 BAP1 CYLD KRT14 KRT19 NFIB PTCH1

Drugs & Therapeutics for Brooke-Spiegler Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
nivolumab Approved Phase 2 946414-94-4
2
Talimogene laherparepvec Approved, Experimental, Investigational Phase 2 1187560-31-1
3 Antineoplastic Agents, Immunological Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II Study of Talimogene Laherparepvec Followed by Talimogene Laherparepvec + Nivolumab in Refractory T Cell and NK Cell Lymphomas, Cutaneous Squamous Cell Carcinoma, Merkel Cell Carcinoma, and Other Rare Skin Tumors Suspended NCT02978625 Phase 2

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:

# Genetic test Affiliating Genes
1 Spiegler-Brooke Syndrome 29 CYLD

Anatomical Context for Brooke-Spiegler Syndrome

MalaCards organs/tissues related to Brooke-Spiegler Syndrome:

40
Skin, Breast, Salivary Gland, Eye, Liver, Bone, Kidney

Publications for Brooke-Spiegler Syndrome

Articles related to Brooke-Spiegler Syndrome:

(show top 50) (show all 142)
# Title Authors PMID Year
1
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. 61 56 6
16922728 2006
2
Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. 61 56 6
15854031 2005
3
A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome. 61 56 6
14632188 2003
4
Identification of a recurrent mutation in the CYLD gene in Brooke-Spiegler syndrome. 61 56 6
12950348 2003
5
Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages. 61 56 6
12190880 2002
6
Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas. 56 6
19807742 2009
7
Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. 61 56
19462465 2009
8
CYLD mutations in familial skin appendage tumours. 61 56
18234730 2008
9
Genetics of skin appendage neoplasms and related syndromes. 61 56
16272260 2005
10
Brooke-Spiegler syndrome locus assigned to 16q12-q13. 61 56
10792569 2000
11
Brooke-Spiegler syndrome variant: segregation of tumor types with mixed differentiation in two generations. 61 56
9504671 1998
12
A nevoid plaque with histological changes of trichoepithelioma and cylindroma in Brooke-Spiegler syndrome. An immunohistochemical study with cytokeratins. 61 56
8835176 1995
13
Spiradenomas in Brooke-Spiegler syndrome. 61 56
7684205 1993
14
Two novel CYLD gene mutations in Chinese families with trichoepithelioma and a literature review of 16 families with trichoepithelioma reported in China. 6
16307661 2005
15
Identification of the familial cylindromatosis tumour-suppressor gene. 6
10835629 2000
16
Familial cutaneous cylindromas: investigations in five generations of a family. 56
7622645 1995
17
Familial occurrence of malignant lymphoepithelial lesion of the parotid gland in a Finnish family with dominantly inherited trichoepithelioma. 56
3275484 1988
18
Familial clustering of salivary gland carcinoma in Greenland. 56
3955517 1986
19
[On the nosology of Spiegler-Brookes tumors]. 56
13709529 1961
20
Brooke-Spiegler Syndrome: Two Patients From a Turkish Family With Multiple Familial Trichoepithelioma. 61
30252697 2019
21
Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome. 61
31624251 2019
22
[Cylindromas-rare but striking]. 61
31428801 2019
23
Brooke-Spiegler syndrome with chronic obstructive pulmonary disease and chronic sinusitis. 61
30628115 2019
24
Trichoblastic carcinoma arising in trichoepithelioma in Brooke-Spiegler syndrome. 61
30971565 2019
25
Clinical, genetic and experimental studies of the Brooke-Spiegler (CYLD) skin tumor syndrome. 61
30676842 2019
26
p63 and smooth muscle actin expression in low-grade spiradenocarcinomas in a case of CYLD cutaneous syndrome. 61
29962004 2018
27
A trichogenic tumor with aggressive features initially diagnosed as basal cell carcinoma. 61
30677834 2018
28
Phenotype variability in tumor disorders of the skin appendages associated with mutations in the CYLD gene. 61
29974194 2018
29
CYLD mutations differentially affect splicing and mRNA decay in Brooke-Spiegler syndrome. 61
29478249 2018
30
Turban Tumor: A Classical Presentation of Brooke-Spiegler Syndrome. 61
30050828 2018
31
[Turban tumour with intracranial invasion]. 61
29809129 2018
32
A rare case of Brooke-Spiegler syndrome: integrated surgical treatment of multiple giant eccrine spiradenomas of the head and neck in a young girl. 61
30241087 2018
33
Brooke-Spiegler Syndrome. 61
30093932 2018
34
Brooke-Spiegler syndrome: focus on reflectance confocal microscopy findings of trichoepithelioma and flat cylindroma. 61
28976013 2017
35
Sporadic Trichoblastomas and Those Occurring in the Setting of Multiple Familial Trichoepithelioma/Brooke-Spiegler Syndrome Show No BAP1 Loss. 61
28098597 2017
36
A Simple and Effective Method for Treating Cylindromas in Brooke-Spiegler Syndrome. 61
28388989 2017
37
An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region. 61
28110467 2017
38
Heterozygous Cylindromatosis Gene Mutation c.1628_1629delCT in a Family with Brook-Spiegler Syndrome. 61
27688459 2016
39
Cutaneous cylindroma: it's all about MYB. 61
27185061 2016
40
Overexpression of MYB drives proliferation of CYLD-defective cylindroma cells. 61
26969893 2016
41
Brooke-Spiegler Syndrome and Phenotypic Variants: An Update. 61
26971504 2016
42
Eccrine cylindroma of the face and scalp. 61
27294061 2016
43
A case of Brooke-Spiegler syndrome with a novel mutation in the CYLD gene in a patient with aggressive non-Hodgkin's lymphoma. 61
26660106 2016
44
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. 61
26861065 2016
45
A novel CYLD gene mutation and multiple basal cell carcinomas in a patient with Brooke-Spiegler syndrome. 61
25976026 2016
46
A rare case of eccrine spiradenoma-treatment and management. 61
27069311 2016
47
Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation. 61
26329847 2016
48
Brooke-Spiegler Syndrome - an underrecognized cause of multiple familial scalp tumors: report of a new germline mutation. 61
26512302 2015
49
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. 61
25995191 2015
50
Basal Cell Carcinoma in a Patient With Brooke-Spiegler Syndrome. 61
26861436 2015

Variations for Brooke-Spiegler Syndrome

ClinVar genetic disease variations for Brooke-Spiegler Syndrome:

6 (show top 50) (show all 93) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYLD NM_015247.2(CYLD):c.968_977del (p.Ser323fs)deletion Pathogenic 267230 rs886040870 16:50810132-50810141 16:50776221-50776230
2 CYLD NM_015247.2(CYLD):c.1537dup (p.Cys513fs)duplication Pathogenic 267235 rs886040874 16:50815174-50815175 16:50781263-50781264
3 CYLD NM_015247.2(CYLD):c.1599dup (p.Val534fs)duplication Pathogenic 267236 rs886040875 16:50815234-50815235 16:50781323-50781324
4 CYLD NM_015247.2(CYLD):c.2108G>A (p.Arg703Lys)SNV Pathogenic 267245 rs886040884 16:50821763-50821763 16:50787852-50787852
5 CYLD NM_015247.2(CYLD):c.2138_2139dup (p.Phe714fs)duplication Pathogenic 267246 rs886040885 16:50825497-50825498 16:50791586-50791587
6 CYLD NM_015247.2(CYLD):c.2252del (p.Cys751fs)deletion Pathogenic 5254 16:50826518-50826518 16:50792607-50792607
7 CYLD CYLD, 1-BP DEL, 2172Adeletion Pathogenic 5255
8 CYLD NM_015247.2(CYLD):c.2240A>G (p.Glu747Gly)SNV Pathogenic 5258 rs121908389 16:50825600-50825600 16:50791689-50791689
9 CYLD NM_015247.2(CYLD):c.2806C>T (p.Arg936Ter)SNV Pathogenic 5259 rs121908390 16:50830354-50830354 16:50796443-50796443
10 CYLD NM_015247.2(CYLD):c.1392dup (p.Gly465fs)duplication Pathogenic 5261 16:50813828-50813829 16:50779917-50779918
11 CYLD NM_015247.2(CYLD):c.1503C>T (p.Leu501=)SNV Uncertain significance 319504 rs752471076 16:50813940-50813940 16:50780029-50780029
12 CYLD NM_015247.2(CYLD):c.2342T>C (p.Leu781Pro)SNV Uncertain significance 267250 rs886040889 16:50826608-50826608 16:50792697-50792697
13 CYLD NM_015247.2(CYLD):c.-161A>GSNV Uncertain significance 319495 rs886052051 16:50778740-50778740 16:50744829-50744829
14 CYLD NM_015247.2(CYLD):c.-23A>CSNV Uncertain significance 319496 rs771486432 16:50783587-50783587 16:50749676-50749676
15 CYLD NM_015247.2(CYLD):c.*1667G>TSNV Uncertain significance 319526 rs750022206 16:50832086-50832086 16:50798175-50798175
16 CYLD NM_015247.2(CYLD):c.*1746C>TSNV Uncertain significance 319528 rs886052057 16:50832165-50832165 16:50798254-50798254
17 CYLD NM_015247.2(CYLD):c.*1810A>TSNV Uncertain significance 319529 rs886052058 16:50832229-50832229 16:50798318-50798318
18 CYLD NM_015247.2(CYLD):c.*2556A>GSNV Uncertain significance 319540 rs747682326 16:50832975-50832975 16:50799064-50799064
19 CYLD NM_015247.2(CYLD):c.*2975C>TSNV Uncertain significance 319545 rs886052062 16:50833394-50833394 16:50799483-50799483
20 CYLD NM_015247.2(CYLD):c.*3305A>GSNV Uncertain significance 319551 rs886052065 16:50833724-50833724 16:50799813-50799813
21 CYLD NM_015247.2(CYLD):c.*1308A>GSNV Uncertain significance 319521 rs886052054 16:50831727-50831727 16:50797816-50797816
22 CYLD NM_015247.2(CYLD):c.*4494G>ASNV Uncertain significance 319563 rs546313281 16:50834913-50834913 16:50801002-50801002
23 CYLD NM_015247.2(CYLD):c.*4702C>TSNV Uncertain significance 319567 rs886052070 16:50835121-50835121 16:50801210-50801210
24 CYLD NM_015247.2(CYLD):c.*4841G>ASNV Uncertain significance 319568 rs886052071 16:50835260-50835260 16:50801349-50801349
25 CYLD NM_015247.2(CYLD):c.*5384A>GSNV Uncertain significance 319574 rs886052072 16:50835803-50835803 16:50801892-50801892
26 CYLD NM_015247.2(CYLD):c.-366G>CSNV Uncertain significance 319494 rs886052050 16:50776010-50776010 16:50742099-50742099
27 CYLD NM_015247.2(CYLD):c.*403T>CSNV Uncertain significance 319512 rs886052052 16:50830822-50830822 16:50796911-50796911
28 CYLD NM_015247.2(CYLD):c.*1727T>CSNV Uncertain significance 319527 rs886052056 16:50832146-50832146 16:50798235-50798235
29 CYLD NM_015247.2(CYLD):c.*2438G>ASNV Uncertain significance 319539 rs886052061 16:50832857-50832857 16:50798946-50798946
30 CYLD NM_015247.2(CYLD):c.*3722T>GSNV Uncertain significance 319556 rs886052067 16:50834141-50834141 16:50800230-50800230
31 CYLD NM_015247.2(CYLD):c.59T>G (p.Ile20Ser)SNV Uncertain significance 319497 rs764097337 16:50783668-50783668 16:50749757-50749757
32 CYLD NM_015247.2(CYLD):c.2145T>C (p.Tyr715=)SNV Uncertain significance 319506 rs200905032 16:50825505-50825505 16:50791594-50791594
33 CYLD NM_015247.2(CYLD):c.*468A>CSNV Uncertain significance 319513 rs886052053 16:50830887-50830887 16:50796976-50796976
34 CYLD NM_015247.2(CYLD):c.*831C>TSNV Uncertain significance 319516 rs144877731 16:50831250-50831250 16:50797339-50797339
35 CYLD NM_015247.2(CYLD):c.*1587dupduplication Uncertain significance 319524 rs886052055 16:50832002-50832003 16:50798091-50798092
36 CYLD NM_015247.2(CYLD):c.*4691A>GSNV Uncertain significance 319566 rs886052069 16:50835110-50835110 16:50801199-50801199
37 CYLD NM_015247.2(CYLD):c.*3000C>GSNV Uncertain significance 319546 rs886052063 16:50833419-50833419 16:50799508-50799508
38 CYLD NM_015247.2(CYLD):c.*3229C>TSNV Uncertain significance 319550 rs752862278 16:50833648-50833648 16:50799737-50799737
39 CYLD NM_015247.2(CYLD):c.*3384G>ASNV Uncertain significance 319552 rs886052066 16:50833803-50833803 16:50799892-50799892
40 CYLD NM_015247.2(CYLD):c.*4388C>TSNV Uncertain significance 319560 rs781004605 16:50834807-50834807 16:50800896-50800896
41 CYLD NM_015247.2(CYLD):c.*4470C>ASNV Uncertain significance 319561 rs755710819 16:50834889-50834889 16:50800978-50800978
42 CYLD NM_015247.2(CYLD):c.543C>T (p.Tyr181=)SNV Uncertain significance 319499 rs752294416 16:50785553-50785553 16:50751642-50751642
43 CYLD NM_015247.2(CYLD):c.1166C>G (p.Thr389Arg)SNV Uncertain significance 319501 rs200759332 16:50813603-50813603 16:50779692-50779692
44 CYLD NM_015247.2(CYLD):c.2465C>T (p.Thr822Ile)SNV Uncertain significance 319509 rs775394735 16:50827571-50827571 16:50793660-50793660
45 CYLD NM_015247.2(CYLD):c.*1983T>CSNV Uncertain significance 319531 rs867027657 16:50832402-50832402 16:50798491-50798491
46 CYLD NM_015247.2(CYLD):c.*2121_*2122deldeletion Uncertain significance 319533 rs74757288 16:50832526-50832527 16:50798615-50798616
47 CYLD NM_015247.2(CYLD):c.*2856T>CSNV Uncertain significance 319544 rs778856255 16:50833275-50833275 16:50799364-50799364
48 CYLD NM_015247.2(CYLD):c.*3119deldeletion Uncertain significance 319548 rs149875014 16:50833531-50833531 16:50799620-50799620
49 CYLD NM_015247.2(CYLD):c.*3148T>CSNV Uncertain significance 319549 rs555603514 16:50833567-50833567 16:50799656-50799656
50 CYLD NM_015247.2(CYLD):c.*4485G>CSNV Uncertain significance 319562 rs886052068 16:50834904-50834904 16:50800993-50800993

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

73
# Symbol AA change Variation ID SNP ID
1 CYLD p.Glu747Gly VAR_045967 rs121908389

Cosmic variations for Brooke-Spiegler Syndrome:

9 (show top 50) (show all 5070)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87898991 TP53 skin,face,carcinoma,basal cell carcinoma c.535C>T p.H179Y 17:7675077-7675077 28
2 COSM87899497 TP53 skin,face,carcinoma,basal cell carcinoma c.586C>T p.R196* 17:7674945-7674945 28
3 COSM87906130 TP53 skin,face,carcinoma,basal cell carcinoma c.854A>T p.E285V 17:7673766-7673766 28
4 COSM87944274 TP53 skin,face,carcinoma,basal cell carcinoma c.419C>T p.T140I 17:7675193-7675193 28
5 COSM87932688 TP53 skin,eye,carcinoma,basal cell carcinoma c.507G>A p.M169I 17:7675105-7675105 28
6 COSM87903307 TP53 skin,face,carcinoma,basal cell carcinoma c.841G>A p.D281N 17:7673779-7673779 28
7 COSM87961406 TP53 skin,face,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 28
8 COSM87918616 TP53 skin,face,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 28
9 COSM87911563 TP53 skin,face,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 28
10 COSM87919309 TP53 skin,face,carcinoma,basal cell carcinoma c.509C>T p.T170M 17:7675103-7675103 28
11 COSM87898424 TP53 skin,face,carcinoma,basal cell carcinoma c.722C>T p.S241F 17:7674241-7674241 28
12 COSM87897850 TP53 skin,face,carcinoma,basal cell carcinoma c.833C>G p.P278R 17:7673787-7673787 28
13 COSM87899049 TP53 skin,face,carcinoma,basal cell carcinoma c.96+1G>A p.? 17:7676381-7676381 28
14 COSM87900565 TP53 skin,face,carcinoma,basal cell carcinoma c.1024C>T p.R342* 17:7670685-7670685 28
15 COSM87915380 TP53 skin,face,carcinoma,basal cell carcinoma c.830G>T p.C277F 17:7673790-7673790 28
16 COSM87906983 TP53 skin,face,carcinoma,basal cell carcinoma c.592G>T p.E198* 17:7674939-7674939 28
17 COSM87905558 TP53 skin,eye,carcinoma,basal cell carcinoma c.425C>T p.P142L 17:7675187-7675187 28
18 COSM87899906 TP53 skin,face,carcinoma,basal cell carcinoma c.375+2T>C p.? 17:7675992-7675992 28
19 COSM87898544 TP53 skin,face,carcinoma,basal cell carcinoma c.680C>T p.S227F 17:7674283-7674283 28
20 COSM87906806 TP53 skin,face,carcinoma,basal cell carcinoma c.517G>A p.V173M 17:7675095-7675095 28
21 COSM88110742 TP53 skin,face,carcinoma,basal cell carcinoma c.432G>A p.Q144= 17:7675180-7675180 28
22 COSM87919221 TP53 skin,face,carcinoma,basal cell carcinoma c.844C>G p.R282G 17:7673776-7673776 28
23 COSM93619372 SUFU skin,face,carcinoma,basal cell carcinoma c.591C>T p.F197= 10:102592718-102592718 28
24 COSM93618837 SUFU skin,face,carcinoma,basal cell carcinoma c.560C>T p.P187L 10:102592687-102592687 28
25 COSM84675948 SMO skin,face,carcinoma,basal cell carcinoma c.595C>T p.R199W 7:129205260-129205260 28
26 COSM84675839 SMO skin,face,carcinoma,basal cell carcinoma c.1598G>A p.S533N 7:129210494-129210494 28
27 COSM84680970 SMO skin,face,carcinoma,basal cell carcinoma c.1955C>T p.A652V 7:129212042-129212042 28
28 COSM84674216 SMO skin,face,carcinoma,basal cell carcinoma c.1234C>T p.L412F 7:129206557-129206557 28
29 COSM90854979 PTCH1 skin,face,carcinoma,basal cell carcinoma c.992C>T p.S331F 9:95480044-95480044 28
30 COSM90852698 PTCH1 skin,face,carcinoma,basal cell carcinoma c.754C>T p.P252S 9:95480581-95480581 28
31 COSM90853744 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3586C>T p.P1196S 9:95449287-95449287 28
32 COSM90834102 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3054G>A p.W1018* 9:95458127-95458127 28
33 COSM90852395 PTCH1 skin,face,carcinoma,basal cell carcinoma c.584G>A p.R195K 9:95485685-95485685 28
34 COSM90855093 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1433C>T p.A478V 9:95477617-95477617 28
35 COSM90853904 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1068-2A>T p.? 9:95479149-95479149 28
36 COSM90828160 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3209T>G p.M1070R 9:95456373-95456373 28
37 COSM90828994 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2072C>T p.T691I 9:95468929-95468929 28
38 COSM90846148 PTCH1 skin,face,carcinoma,basal cell carcinoma c.493G>T p.E165* 9:95485776-95485776 28
39 COSM90852871 PTCH1 skin,ear,carcinoma,basal cell carcinoma c.3236G>T p.S1079I 9:95456346-95456346 28
40 COSM90826100 PTCH1 skin,ear,carcinoma,basal cell carcinoma c.3168+5G>T p.? 9:95458008-95458008 28
41 COSM90844669 PTCH1 skin,face,carcinoma,basal cell carcinoma c.994A>T p.R332* 9:95480042-95480042 28
42 COSM90854934 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1085C>T p.T362I 9:95479130-95479130 28
43 COSM90844191 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2693A>G p.D898G 9:95461866-95461866 28
44 COSM90854545 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2308C>T p.R770* 9:95467368-95467368 28
45 COSM90828875 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1347+1G>A p.? 9:95478054-95478054 28
46 COSM90831552 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3583A>T p.T1195S 9:95449290-95449290 28
47 COSM90852797 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2965G>T p.E989* 9:95458216-95458216 28
48 COSM90837919 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2050G>T p.E684* 9:95468951-95468951 28
49 COSM90852654 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1082A>C p.Q361P 9:95479133-95479133 28
50 COSM90829040 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1854C>A p.C618* 9:95469147-95469147 28

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 KEGG:

36
# Name Kegg Source Accession
1 RIG-I-like receptor signaling pathway hsa04622

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.37 TP53 IKBKG H2AC18 CYLD BAP1
2
Show member pathways
12.08 KRT8 KRT7 KRT19 KRT14
3 11.84 VIM KRT8 KRT7 KRT19 BAP1
4
Show member pathways
11.05 VIM KRT8 KRT7 KRT19 KRT14
5 10.88 TP53 KRT8 KRT19

GO Terms for Brooke-Spiegler Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.9 VIM TP53 OTULIN KRT8 KRT7 KRT19
2 nuclear matrix GO:0016363 9.5 VIM TP53 KRT8
3 apicolateral plasma membrane GO:0016327 9.43 KRT8 KRT19
4 keratin filament GO:0045095 9.43 KRT8 KRT7 KRT14
5 costamere GO:0043034 9.4 KRT8 KRT19
6 dystrophin-associated glycoprotein complex GO:0016010 9.37 KRT8 KRT19
7 cell periphery GO:0071944 9.13 KRT8 KRT19 KRT14
8 intermediate filament GO:0005882 9.02 VIM KRT8 KRT7 KRT19 KRT14

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

# Name GO ID Score Top Affiliating Genes
1 protein deubiquitination GO:0016579 9.71 TP53 IKBKG CYLD BAP1
2 keratinization GO:0031424 9.62 KRT8 KRT7 KRT19 KRT14
3 necroptotic process GO:0070266 9.48 TP53 CYLD
4 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.46 TP53 BCL3
5 commissural neuron axon guidance GO:0071679 9.43 PTCH1 NFIB
6 cell differentiation involved in embryonic placenta development GO:0060706 9.37 KRT8 KRT19
7 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.33 OTULIN IKBKG CYLD
8 protein linear deubiquitination GO:1990108 9.26 OTULIN CYLD
9 cornification GO:0070268 9.26 KRT8 KRT7 KRT19 KRT14
10 viral process GO:0016032 9.1 VIM TP53 KRT8 KRT7 KRT19 IKBKG

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

# Name GO ID Score Top Affiliating Genes
1 thiol-dependent ubiquitinyl hydrolase activity GO:0036459 9.43 OTULIN CYLD BAP1
2 thiol-dependent ubiquitin-specific protease activity GO:0004843 9.33 OTULIN CYLD BAP1
3 structural constituent of cytoskeleton GO:0005200 9.13 VIM KRT19 KRT14
4 keratin filament binding GO:1990254 8.62 VIM KRT14

Sources for Brooke-Spiegler Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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