BRSS
MCID: BRK001
MIFTS: 55

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 57 12 53 25 59 74 37 15 72
Spiegler-Brooke Syndrome 57 53 25 74 29 13 6 40
Brss 57 53 25 74
Sbs 57 53 74
Bss 57 25 74
Ancell-Spiegler Cylindromas 53 72
Spiegler-Brooke Syndrome; Sbs 57
Carcinoma, Skin Appendage 44
Eccrine Dermal Cylindroma 72
Skin Appendage Carcinoma 17
Schilbach-Rott Syndrome 72
Cyld Cutaneous Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
brooke-spiegler syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0050693
OMIM 57 605041
KEGG 37 H00827
MeSH 44 D018280
MESH via Orphanet 45 C536611
UMLS via Orphanet 73 C1857941
Orphanet 59 ORPHA79493
MedGen 42 C1857941
UMLS 72 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 spiradenoma and basal cell carcinoma. 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 Wnt / Hedgehog / Notch. The drugs Talimogene laherparepvec and nivolumab have been mentioned in the context of this disorder. Affiliated tissues include skin, salivary gland and eye, and related phenotypes are neoplasm and milia

Disease Ontology : 12 An autosomal dominant 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 : 53 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 : 57 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 : 37
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 : 74 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 : 75 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 235)
# Related Disease Score Top Affiliating Genes
1 spiradenoma 31.5 KRT14 CYLD
2 basal cell carcinoma 30.0 PTCH1 KRT8 CYLD
3 bernard-soulier syndrome 12.2
4 barber-say syndrome 12.0
5 multiple familial trichoepithelioma 12.0
6 cylindromatosis, familial 11.9
7 short bowel syndrome 11.8
8 sick building syndrome 11.7
9 basal cell carcinoma 1 11.6
10 schilbach-rott syndrome 11.6
11 camptocormism 11.6
12 neural tube defects 11.6
13 shaken baby syndrome 11.5
14 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 11.5
15 brown-sequard syndrome 11.4
16 cowden syndrome 1 11.2
17 congenital short bowel syndrome 11.2
18 trichoepithelioma, multiple familial, 1 10.6
19 adenoid cystic carcinoma 10.6
20 adenoma 10.6
21 erythrokeratoderma ''en cocardes'' 10.6
22 rare genetic skin disease 10.6
23 malignant cylindroma 10.5
24 rapidly involuting congenital hemangioma 10.5
25 kala-azar 1 10.3
26 leishmaniasis 10.3
27 neurofibromatosis, type iv, of riccardi 10.3
28 pulmonary disease, chronic obstructive 10.3
29 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
30 telangiectasis 10.3
31 syringoma 10.3
32 ovarian brenner tumor 10.3
33 skin disease 10.3
34 spindle cell carcinoma 10.3
35 spindle cell sarcoma 10.3
36 pustulosis of palm and sole 10.3
37 psoriasis 10.3
38 48,xyyy 10.3
39 posttransplant acute limbic encephalitis 10.3
40 rare tumor 10.3
41 ige responsiveness, atopic 10.3
42 endophthalmitis 10.2
43 cataract 10.2
44 cerebral artery occlusion 10.2
45 schistosoma mansoni infection, susceptibility/ 10.2
46 triiodothyronine receptor auxiliary protein 10.2
47 bone resorption disease 10.2
48 schistosomiasis 10.2
49 kidney disease 10.2
50 back pain 10.2

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:

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

Symptoms via clinical synopsis from OMIM:

57
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

MGI Mouse Phenotypes related to Brooke-Spiegler Syndrome:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.91 BAP1 CYLD KRT14 KRT8 PTCH1
2 growth/size/body region MP:0005378 9.88 BAP1 CYLD KRT14 KRT8 PTCH1
3 hematopoietic system MP:0005397 9.83 BAP1 CYLD KRT14 KRT8 PTCH1
4 endocrine/exocrine gland MP:0005379 9.8 BAP1 CYLD KRT14 PTCH1
5 homeostasis/metabolism MP:0005376 9.8 BAP1 CYLD KRT14 KRT8 PTCH1
6 immune system MP:0005387 9.77 BAP1 CYLD KRT14 KRT8 PTCH1
7 mortality/aging MP:0010768 9.65 BAP1 CYLD KRT14 KRT8 PTCH1
8 hearing/vestibular/ear MP:0005377 9.63 KRT14 KRT8 PTCH1
9 integument MP:0010771 9.62 BAP1 CYLD KRT14 PTCH1
10 neoplasm MP:0002006 9.46 BAP1 CYLD KRT14 PTCH1
11 reproductive system MP:0005389 9.26 BAP1 KRT14 KRT8 PTCH1
12 respiratory system MP:0005388 8.92 BAP1 CYLD KRT14 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
Talimogene laherparepvec Approved, Experimental, Investigational Phase 2 1187560-31-1
2
nivolumab Approved Phase 2 946414-94-4
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:

41
Skin, Salivary Gland, Eye, T Cells, Nk Cells, Lymph Node, Smooth Muscle

Publications for Brooke-Spiegler Syndrome

Articles related to Brooke-Spiegler Syndrome:

(show top 50) (show all 141)
# Title Authors PMID Year
1
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. 38 8 71
16922728 2006
2
Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. 38 8 71
15854031 2005
3
A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome. 38 8 71
14632188 2003
4
Identification of a recurrent mutation in the CYLD gene in Brooke-Spiegler syndrome. 38 8 71
12950348 2003
5
Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages. 38 8 71
12190880 2002
6
Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas. 8 71
19807742 2009
7
Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. 38 8
19462465 2009
8
CYLD mutations in familial skin appendage tumours. 38 8
18234730 2008
9
Genetics of skin appendage neoplasms and related syndromes. 38 8
16272260 2005
10
Brooke-Spiegler syndrome locus assigned to 16q12-q13. 38 8
10792569 2000
11
Brooke-Spiegler syndrome variant: segregation of tumor types with mixed differentiation in two generations. 38 8
9504671 1998
12
A nevoid plaque with histological changes of trichoepithelioma and cylindroma in Brooke-Spiegler syndrome. An immunohistochemical study with cytokeratins. 38 8
8835176 1995
13
Spiradenomas in Brooke-Spiegler syndrome. 38 8
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. 71
16307661 2005
15
Identification of the familial cylindromatosis tumour-suppressor gene. 71
10835629 2000
16
Familial cutaneous cylindromas: investigations in five generations of a family. 8
7622645 1995
17
Familial occurrence of malignant lymphoepithelial lesion of the parotid gland in a Finnish family with dominantly inherited trichoepithelioma. 8
3275484 1988
18
Familial clustering of salivary gland carcinoma in Greenland. 8
3955517 1986
19
[On the nosology of Spiegler-Brookes tumors]. 8
13709529 1961
20
Brooke-Spiegler Syndrome: Two Patients From a Turkish Family With Multiple Familial Trichoepithelioma. 38
30252697 2019
21
[Cylindromas-rare but striking]. 38
31428801 2019
22
Brooke-Spiegler syndrome with chronic obstructive pulmonary disease and chronic sinusitis. 38
30628115 2019
23
Trichoblastic carcinoma arising in trichoepithelioma in Brooke-Spiegler syndrome. 38
30971565 2019
24
Clinical, genetic and experimental studies of the Brooke-Spiegler (CYLD) skin tumor syndrome. 38
30676842 2019
25
p63 and smooth muscle actin expression in low-grade spiradenocarcinomas in a case of CYLD cutaneous syndrome. 38
29962004 2018
26
A trichogenic tumor with aggressive features initially diagnosed as basal cell carcinoma. 38
30677834 2018
27
Phenotype variability in tumor disorders of the skin appendages associated with mutations in the CYLD gene. 38
29974194 2018
28
CYLD mutations differentially affect splicing and mRNA decay in Brooke-Spiegler syndrome. 38
29478249 2018
29
Turban Tumor: A Classical Presentation of Brooke-Spiegler Syndrome. 38
30050828 2018
30
[Turban tumour with intracranial invasion]. 38
29809129 2018
31
A rare case of Brooke-Spiegler syndrome: integrated surgical treatment of multiple giant eccrine spiradenomas of the head and neck in a young girl. 38
30241087 2018
32
Brooke-Spiegler Syndrome. 38
30093932 2018
33
Brooke-Spiegler syndrome: focus on reflectance confocal microscopy findings of trichoepithelioma and flat cylindroma. 38
28976013 2017
34
Sporadic Trichoblastomas and Those Occurring in the Setting of Multiple Familial Trichoepithelioma/Brooke-Spiegler Syndrome Show No BAP1 Loss. 38
28098597 2017
35
A Simple and Effective Method for Treating Cylindromas in Brooke-Spiegler Syndrome. 38
28388989 2017
36
An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region. 38
28110467 2017
37
Heterozygous Cylindromatosis Gene Mutation c.1628_1629delCT in a Family with Brook-Spiegler Syndrome. 38
27688459 2016
38
Cutaneous cylindroma: it's all about MYB. 38
27185061 2016
39
Overexpression of MYB drives proliferation of CYLD-defective cylindroma cells. 38
26969893 2016
40
Brooke-Spiegler Syndrome and Phenotypic Variants: An Update. 38
26971504 2016
41
Eccrine cylindroma of the face and scalp. 38
27294061 2016
42
A case of Brooke-Spiegler syndrome with a novel mutation in the CYLD gene in a patient with aggressive non-Hodgkin's lymphoma. 38
26660106 2016
43
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. 38
26861065 2016
44
Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation. 38
26329847 2016
45
A novel CYLD gene mutation and multiple basal cell carcinomas in a patient with Brooke-Spiegler syndrome. 38
25976026 2016
46
A rare case of eccrine spiradenoma-treatment and management. 38
27069311 2016
47
Brooke-Spiegler Syndrome - an underrecognized cause of multiple familial scalp tumors: report of a new germline mutation. 38
26512302 2015
48
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. 38
25995191 2015
49
Basal Cell Carcinoma in a Patient With Brooke-Spiegler Syndrome. 38
26861436 2015
50
Phenotype-genotype correlations for clinical variants caused by CYLD mutations. 38
25782638 2015

Variations for Brooke-Spiegler Syndrome

ClinVar genetic disease variations for Brooke-Spiegler Syndrome:

6 (show top 50) (show all 93)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CYLD NM_015247.2(CYLD): c.968_977del (p.Ser323fs) deletion Pathogenic rs886040870 16:50810135-50810144 16:50776224-50776233
2 CYLD NM_015247.2(CYLD): c.1537dup (p.Cys513fs) duplication Pathogenic rs886040874 16:50815175-50815175 16:50781264-50781264
3 CYLD NM_015247.2(CYLD): c.1599dup (p.Val534fs) duplication Pathogenic rs886040875 16:50815237-50815237 16:50781326-50781326
4 CYLD NM_015247.2(CYLD): c.2108G> A (p.Arg703Lys) single nucleotide variant Pathogenic rs886040884 16:50821763-50821763 16:50787852-50787852
5 CYLD NM_015247.2(CYLD): c.2138_2139dup (p.Phe714fs) duplication Pathogenic rs886040885 16:50825498-50825499 16:50791587-50791588
6 CYLD CYLD, 1-BP DEL, 2253G deletion Pathogenic
7 CYLD CYLD, 1-BP DEL, 2172A deletion Pathogenic
8 CYLD NM_015247.2(CYLD): c.2240A> G (p.Glu747Gly) single nucleotide variant Pathogenic rs121908389 16:50825600-50825600 16:50791689-50791689
9 CYLD NM_015247.2(CYLD): c.2806C> T (p.Arg936Ter) single nucleotide variant Pathogenic rs121908390 16:50830354-50830354 16:50796443-50796443
10 CYLD CYLD, 1-BP DUP, 1392T duplication Pathogenic
11 CYLD NM_015247.2(CYLD): c.1503C> T (p.Leu501=) single nucleotide variant Uncertain significance rs752471076 16:50813940-50813940 16:50780029-50780029
12 CYLD NM_015247.2(CYLD): c.2342T> C (p.Leu781Pro) single nucleotide variant Uncertain significance rs886040889 16:50826608-50826608 16:50792697-50792697
13 CYLD NM_015247.2(CYLD): c.-161A> G single nucleotide variant Uncertain significance rs886052051 16:50778740-50778740 16:50744829-50744829
14 CYLD NM_015247.2(CYLD): c.-23A> C single nucleotide variant Uncertain significance rs771486432 16:50783587-50783587 16:50749676-50749676
15 CYLD NM_015247.2(CYLD): c.*1667G> T single nucleotide variant Uncertain significance rs750022206 16:50832086-50832086 16:50798175-50798175
16 CYLD NM_015247.2(CYLD): c.*1746C> T single nucleotide variant Uncertain significance rs886052057 16:50832165-50832165 16:50798254-50798254
17 CYLD NM_015247.2(CYLD): c.*1810A> T single nucleotide variant Uncertain significance rs886052058 16:50832229-50832229 16:50798318-50798318
18 CYLD NM_015247.2(CYLD): c.*2556A> G single nucleotide variant Uncertain significance rs747682326 16:50832975-50832975 16:50799064-50799064
19 CYLD NM_015247.2(CYLD): c.*2975C> T single nucleotide variant Uncertain significance rs886052062 16:50833394-50833394 16:50799483-50799483
20 CYLD NM_015247.2(CYLD): c.*3305A> G single nucleotide variant Uncertain significance rs886052065 16:50833724-50833724 16:50799813-50799813
21 CYLD NM_015247.2(CYLD): c.*1308A> G single nucleotide variant Uncertain significance rs886052054 16:50831727-50831727 16:50797816-50797816
22 CYLD NM_015247.2(CYLD): c.*4494G> A single nucleotide variant Uncertain significance rs546313281 16:50834913-50834913 16:50801002-50801002
23 CYLD NM_015247.2(CYLD): c.*4702C> T single nucleotide variant Uncertain significance rs886052070 16:50835121-50835121 16:50801210-50801210
24 CYLD NM_015247.2(CYLD): c.*4841G> A single nucleotide variant Uncertain significance rs886052071 16:50835260-50835260 16:50801349-50801349
25 CYLD NM_015247.2(CYLD): c.*5384A> G single nucleotide variant Uncertain significance rs886052072 16:50835803-50835803 16:50801892-50801892
26 CYLD NM_015247.2(CYLD): c.-366G> C single nucleotide variant Uncertain significance rs886052050 16:50776010-50776010 16:50742099-50742099
27 CYLD NM_015247.2(CYLD): c.*403T> C single nucleotide variant Uncertain significance rs886052052 16:50830822-50830822 16:50796911-50796911
28 CYLD NM_015247.2(CYLD): c.*1727T> C single nucleotide variant Uncertain significance rs886052056 16:50832146-50832146 16:50798235-50798235
29 CYLD NM_015247.2(CYLD): c.*2438G> A single nucleotide variant Uncertain significance rs886052061 16:50832857-50832857 16:50798946-50798946
30 CYLD NM_015247.2(CYLD): c.*3722T> G single nucleotide variant Uncertain significance rs886052067 16:50834141-50834141 16:50800230-50800230
31 CYLD NM_015247.2(CYLD): c.59T> G (p.Ile20Ser) single nucleotide variant Uncertain significance rs764097337 16:50783668-50783668 16:50749757-50749757
32 CYLD NM_015247.2(CYLD): c.2145T> C (p.Tyr715=) single nucleotide variant Uncertain significance rs200905032 16:50825505-50825505 16:50791594-50791594
33 CYLD NM_015247.2(CYLD): c.*468A> C single nucleotide variant Uncertain significance rs886052053 16:50830887-50830887 16:50796976-50796976
34 CYLD NM_015247.2(CYLD): c.*831C> T single nucleotide variant Uncertain significance rs144877731 16:50831250-50831250 16:50797339-50797339
35 CYLD NM_015247.2(CYLD): c.*1587dup duplication Uncertain significance rs886052055 16:50832006-50832006 16:50798095-50798095
36 CYLD NM_015247.2(CYLD): c.*4691A> G single nucleotide variant Uncertain significance rs886052069 16:50835110-50835110 16:50801199-50801199
37 CYLD NM_015247.2(CYLD): c.*3000C> G single nucleotide variant Uncertain significance rs886052063 16:50833419-50833419 16:50799508-50799508
38 CYLD NM_015247.2(CYLD): c.*3229C> T single nucleotide variant Uncertain significance rs752862278 16:50833648-50833648 16:50799737-50799737
39 CYLD NM_015247.2(CYLD): c.*3384G> A single nucleotide variant Uncertain significance rs886052066 16:50833803-50833803 16:50799892-50799892
40 CYLD NM_015247.2(CYLD): c.*4388C> T single nucleotide variant Uncertain significance rs781004605 16:50834807-50834807 16:50800896-50800896
41 CYLD NM_015247.2(CYLD): c.*4470C> A single nucleotide variant Uncertain significance rs755710819 16:50834889-50834889 16:50800978-50800978
42 CYLD NM_015247.2(CYLD): c.543C> T (p.Tyr181=) single nucleotide variant Uncertain significance rs752294416 16:50785553-50785553 16:50751642-50751642
43 CYLD NM_015247.2(CYLD): c.1166C> G (p.Thr389Arg) single nucleotide variant Uncertain significance rs200759332 16:50813603-50813603 16:50779692-50779692
44 CYLD NM_015247.2(CYLD): c.2465C> T (p.Thr822Ile) single nucleotide variant Uncertain significance rs775394735 16:50827571-50827571 16:50793660-50793660
45 CYLD NM_015247.2(CYLD): c.*1983T> C single nucleotide variant Uncertain significance rs867027657 16:50832402-50832402 16:50798491-50798491
46 CYLD NM_015247.2(CYLD): c.*2121_*2122del deletion Uncertain significance rs74757288 16:50832540-50832541 16:50798629-50798630
47 CYLD NM_015247.2(CYLD): c.*2856T> C single nucleotide variant Uncertain significance rs778856255 16:50833275-50833275 16:50799364-50799364
48 CYLD NM_015247.2(CYLD): c.*3119del deletion Uncertain significance rs149875014 16:50833538-50833538 16:50799627-50799627
49 CYLD NM_015247.2(CYLD): c.*3148T> C single nucleotide variant Uncertain significance rs555603514 16:50833567-50833567 16:50799656-50799656
50 CYLD NM_015247.2(CYLD): c.*4485G> C single nucleotide variant Uncertain significance rs886052068 16:50834904-50834904 16:50800993-50800993

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

74
# 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 1284)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM44097 TP53 skin,face,carcinoma,basal cell carcinoma c.530C>T p.P177L 17:7675082-7675082 28
2 COSM44295 TP53 skin,face,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 28
3 COSM10939 TP53 skin,face,carcinoma,basal cell carcinoma c.832C>T p.P278S 17:7673788-7673788 28
4 COSM10662 TP53 skin,face,carcinoma,basal cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 28
5 COSM11449 TP53 skin,face,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 28
6 COSM44068 TP53 skin,face,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 28
7 COSM10726 TP53 skin,face,carcinoma,basal cell carcinoma c.856G>A p.E286K 17:7673764-7673764 28
8 COSM10992 TP53 skin,face,carcinoma,basal cell carcinoma c.844C>G p.R282G 17:7673776-7673776 28
9 COSM45733 TP53 skin,face,carcinoma,basal cell carcinoma c.432G>A p.Q144Q 17:7675180-7675180 28
10 COSM43700 TP53 skin,face,carcinoma,basal cell carcinoma c.712T>A p.C238S 17:7674251-7674251 28
11 COSM44227 TP53 skin,face,carcinoma,basal cell carcinoma c.854A>T p.E285V 17:7673766-7673766 28
12 COSM44126 TP53 skin,eye,carcinoma,basal cell carcinoma c.507G>A p.M169I 17:7675105-7675105 28
13 COSM44435 TP53 skin,face,carcinoma,basal cell carcinoma c.96+1G>A p.? 17:7676381-7676381 28
14 COSM43920 TP53 skin,face,carcinoma,basal cell carcinoma c.680C>T p.S227F 17:7674283-7674283 28
15 COSM44436 TP53 skin,face,carcinoma,basal cell carcinoma c.375+2T>C p.? 17:7675992-7675992 28
16 COSM11084 TP53 skin,face,carcinoma,basal cell carcinoma c.517G>A p.V173M 17:7675095-7675095 28
17 COSM43742 TP53 skin,face,carcinoma,basal cell carcinoma c.419C>T p.T140I 17:7675193-7675193 28
18 COSM10887 TP53 skin,face,carcinoma,basal cell carcinoma c.833C>G p.P278R 17:7673787-7673787 28
19 COSM44241 TP53 skin,face,carcinoma,basal cell carcinoma c.592G>T p.E198* 17:7674939-7674939 28
20 COSM43583 TP53 skin,eye,carcinoma,basal cell carcinoma c.425C>T p.P142L 17:7675187-7675187 28
21 COSM44552 TP53 skin,face,carcinoma,basal cell carcinoma c.509C>T p.T170M 17:7675103-7675103 28
22 COSM13233 SUFU skin,face,carcinoma,basal cell carcinoma c.591C>T p.F197F 10:102592718-102592718 28
23 COSM13234 SUFU skin,face,carcinoma,basal cell carcinoma c.560C>T p.P187L 10:102592687-102592687 28
24 COSM3942016 SMO skin,face,carcinoma,basal cell carcinoma c.1376C>T p.A459V 7:129209307-129209307 28
25 COSM13145 SMO skin,face,carcinoma,basal cell carcinoma c.595C>T p.R199W 7:129205260-129205260 28
26 COSM216037 SMO skin,face,carcinoma,basal cell carcinoma c.1234C>T p.L412F 7:129206557-129206557 28
27 COSM13144 SMO skin,face,carcinoma,basal cell carcinoma c.1598G>A p.S533N 7:129210494-129210494 28
28 COSM13240 SMO skin,face,carcinoma,basal cell carcinoma c.1955C>T p.A652V 7:129212042-129212042 28
29 COSM17598 PTCH1 skin,face,carcinoma,basal cell carcinoma c.550C>T p.Q184* 9:95485719-95485719 28
30 COSM17495 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1229G>A p.S410N 9:95478173-95478173 28
31 COSM17511 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3583A>T p.T1195S 9:95449290-95449290 28
32 COSM17522 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3586C>T p.P1196S 9:95449287-95449287 28
33 COSM14439 PTCH1 skin,face,carcinoma,basal cell carcinoma c.992C>T p.S331F 9:95480044-95480044 28
34 COSM17584 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2105C>T p.P702L 9:95468896-95468896 28
35 COSM14446 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3054G>A p.W1018* 9:95458127-95458127 28
36 COSM17532 PTCH1 skin,face,carcinoma,basal cell carcinoma c.768G>A p.W256* 9:95480567-95480567 28
37 COSM26377 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3449+1G>A p.? 9:95453477-95453477 28
38 COSM17473 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2308C>T p.R770* 9:95467368-95467368 28
39 COSM17599 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2120C>T p.S707F 9:95468881-95468881 28
40 COSM17533 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2251-1G>A p.? 9:95467426-95467426 28
41 COSM29033 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2038G>T p.E680* 9:95468963-95468963 28
42 COSM17468 PTCH1 skin,neck,carcinoma,basal cell carcinoma c.584G>T p.R195M 9:95485685-95485685 28
43 COSM29043 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1634G>A p.G545E 9:95476128-95476128 28
44 COSM29071 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3549+5G>A p.? 9:95449836-95449836 28
45 COSM29045 PTCH1 skin,ear,carcinoma,basal cell carcinoma c.3168+5G>T p.? 9:95458008-95458008 28
46 COSM29046 PTCH1 skin,face,carcinoma,basal cell carcinoma c.747-1G>A p.? 9:95480589-95480589 28
47 COSM26363 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2446C>T p.Q816* 9:95467230-95467230 28
48 COSM29053 PTCH1 skin,neck,carcinoma,basal cell carcinoma c.833G>A p.W278* 9:95480502-95480502 28
49 COSM17582 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1082A>C p.Q361P 9:95479133-95479133 28
50 COSM29040 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2693A>G p.D898G 9:95461866-95461866 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:

37
# 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 11.22 PTCH1 CYLD
2
Show member pathways
10.66 KRT8 KRT14

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 midbody GO:0030496 9.16 PTCH1 CYLD
2 keratin filament GO:0045095 8.96 KRT8 KRT14
3 cell periphery GO:0071944 8.62 KRT8 KRT14

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

# Name GO ID Score Top Affiliating Genes
1 cornification GO:0070268 9.32 KRT8 KRT14
2 epidermis development GO:0008544 9.26 PTCH1 KRT14
3 regulation of inflammatory response GO:0050727 9.16 CYLD BAP1
4 regulation of mitotic cell cycle GO:0007346 8.96 PTCH1 CYLD
5 protein K48-linked deubiquitination GO:0071108 8.62 CYLD BAP1

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

# Name GO ID Score Top Affiliating Genes
1 cysteine-type peptidase activity GO:0008234 9.16 CYLD BAP1
2 thiol-dependent ubiquitinyl hydrolase activity GO:0036459 8.96 CYLD BAP1
3 thiol-dependent ubiquitin-specific protease activity GO:0004843 8.62 CYLD BAP1

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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