BRSS
MCID: BRK001
MIFTS: 64

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 24 52 25 58 73 36 29 6 15 71
Spiegler-Brooke Syndrome 56 12 52 25 73 13 39
Brss 56 12 52 25 73
Bss 56 12 24 25 73
Multiple Familial Trichoepithelioma 24 52 25 36
Sbs 56 12 52 73
Familial Multiple Trichoepitheliomata 25 29 6
Ancell-Spiegler Cylindromas 52 25 71
Familial Cylindromatosis 24 52 25
Cyld Cutaneous Syndrome 12 24 58
Hereditary Multiple Benign Cystic Epithelioma 52 25
Familial Multiple Trichoepithelioma 52 58
Brooke-Fordyce Trichoepitheliomas 52 25
Cylindromatosis, Familial 52 25
Turban Tumor Syndrome 52 25
Mft 24 25
Epithelioma Adenoides Cysticum of Brooke 25
Trichoepitheliomata, Multiple, Familial 39
Trichoepithelioma Multiple Familial 52
Epithelioma Adenoides Cysticum 52
Spiegler-Brooke Syndrome; Sbs 56
Dermal Eccrine Cylindroma 25
Carcinoma, Skin Appendage 43
Eccrine Dermal Cylindroma 71
Skin Appendage Carcinoma 17
Schilbach-Rott Syndrome 71
Turban Tumors 52
Cyld 52
Eac 25
Fc 24

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;
familial multiple trichoepithelioma
Inheritance: Autosomal dominant; Age of onset: Childhood;

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
MeSH 43 D018280
SNOMED-CT 67 703531009
MESH via Orphanet 44 C536552 C536611
ICD10 via Orphanet 33 D23.3
UMLS via Orphanet 72 C1275122 C1857941
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 trichoepithelioma, multiple familial, 2 and anus basaloid 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 Cytoskeletal Signaling. The drugs nivolumab and Talimogene laherparepvec have been mentioned in the context of this disorder. Affiliated tissues include skin, salivary gland and eye, and related phenotypes are subcutaneous nodule and papule

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...

GeneReviews: NBK555820

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 1017)
# Related Disease Score Top Affiliating Genes
1 trichoepithelioma, multiple familial, 2 34.4 MFT2 CYLD
2 anus basaloid carcinoma 33.2 KRT7 CYLD
3 malignant spiradenoma 32.7 TP53 KRT7 CYLD
4 salivary gland disease 32.6 TP53 KRT7 CYLD
5 apocrine sweat gland neoplasm 32.6 KRT8 KRT7 KRT14 CYLD
6 skin benign neoplasm 32.6 PTCH1 KRT7 KRT14 CYLD
7 sweat gland benign neoplasm 32.5 TP53 KRT8 KRT7 KRT14 CYLD
8 sweat gland disease 32.5 TP53 KRT8 KRT7 KRT14 CYLD
9 spiradenoma 32.3 VIM TP53 KRT7 KRT14 CYLD
10 salivary gland carcinoma 31.9 TP53 KRT7 CYLD
11 adenoid cystic carcinoma 31.5 VIM TP53 KRT8 KRT7 KRT19 KRT14
12 basal cell carcinoma 31.5 TP53 PTCH1 KRT8 KRT7 KRT19 KRT14
13 syringoma 31.5 VIM KRT7 KRT19
14 spindle cell carcinoma 31.3 VIM KRT8 KRT7 KRT19 KRT14
15 squamous cell papilloma 30.9 TP53 KRT14
16 basaloid squamous cell carcinoma 30.9 TP53 KRT8 KRT7 KRT19 KRT14
17 mucoepidermoid carcinoma 30.8 TP53 KRT7 KRT19 KRT14
18 papilloma 30.8 TP53 KRT8 KRT7 KRT14
19 in situ carcinoma 30.7 TP53 KRT8 KRT14
20 transitional cell carcinoma 30.7 TP53 KRT8 KRT7 KRT19
21 squamous cell carcinoma 30.6 TP53 PTCH1 KRT7 KRT19 KRT14
22 small cell cancer of the lung 30.4 TP53 KRT7 KRT19
23 small cell carcinoma 30.3 TP53 KRT8 KRT7 KRT19
24 skin carcinoma 30.2 TP53 PTCH1 KRT8 KRT7
25 bernard-soulier syndrome 12.2
26 costello syndrome 12.1
27 barber-say syndrome 12.0
28 cylindromatosis, familial 12.0
29 neural tube defects 11.9
30 sick building syndrome 11.8
31 short bowel syndrome 11.8
32 thrombocytopenic purpura, autoimmune 11.7
33 basal cell carcinoma 1 11.6
34 systemic lupus erythematosus 11.6
35 schilbach-rott syndrome 11.6
36 camptocormism 11.6
37 streptococcus pneumonia 11.6
38 shaken baby syndrome 11.5
39 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 11.5
40 brown-sequard syndrome 11.4
41 migraine with or without aura 2 11.3
42 barrett esophagus 11.2
43 tuftsin deficiency 11.2
44 cowden syndrome 1 11.2
45 congenital short bowel syndrome 11.2
46 caspase 8 deficiency 11.1
47 autoinflammation, panniculitis, and dermatosis syndrome 11.1
48 epidermal appendage tumor 11.1
49 stomach carcinoma in situ 11.1
50 follicular lymphoma 10.9

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 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001482
2 papule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200034
3 cylindroma 58 31 hallmark (90%) Very frequent (99-80%) HP:0031024
4 telangiectasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0100585
5 abnormality of the neck 58 31 frequent (33%) Frequent (79-30%) HP:0000464
6 abnormality of the scalp 58 31 frequent (33%) Frequent (79-30%) HP:0001965
7 trichoepithelioma 58 31 frequent (33%) Frequent (79-30%) HP:0025367
8 skin ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0200042
9 abnormal bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0001892
10 basal cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002671
11 multiple cutaneous malignancies 58 31 occasional (7.5%) Occasional (29-5%) HP:0007606
12 nodular changes affecting the eyelids 58 31 occasional (7.5%) Occasional (29-5%) HP:0010732
13 skin-colored papule 58 31 occasional (7.5%) Occasional (29-5%) HP:0025512
14 hearing impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0000365
15 visual impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0000505
16 facial palsy 58 31 very rare (1%) Very rare (<4-1%) HP:0010628
17 salivary gland neoplasm 58 31 very rare (1%) Very rare (<4-1%) HP:0100684
18 abnormality of the submandibular glands 58 31 very rare (1%) Very rare (<4-1%) HP:0010287
19 abnormality of the auditory canal 58 31 very rare (1%) Very rare (<4-1%) HP:0000372
20 abnormality of the sublingual glands 58 31 very rare (1%) Very rare (<4-1%) HP:0010288
21 abnormality of the face 58 Frequent (79-30%)
22 neoplasm 31 HP:0002664
23 milia 31 HP:0001056
24 skin nodule 58 Frequent (79-30%)
25 skin appendage neoplasm 58 Frequent (79-30%)

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

MGI Mouse Phenotypes related to Brooke-Spiegler Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 10.02 BAP1 BBS2 CYLD KRT14 KRT19 KRT8
2 immune system MP:0005387 10 BAP1 CYLD ETV3 KRT14 KRT19 KRT8
3 integument MP:0010771 9.85 BAP1 BBS2 CYLD DBH KRT14 KRT19
4 hearing/vestibular/ear MP:0005377 9.8 BSN KRT14 KRT8 PTCH1 SALL1 TP53
5 respiratory system MP:0005388 9.5 BAP1 CYLD KRT14 KRT19 PTCH1 TP53
6 vision/eye MP:0005391 9.28 BBS2 BSN DBH KRT14 NUB1 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 Recruiting 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 Familial Multiple Trichoepitheliomata 29 CYLD
2 Brooke-Spiegler Syndrome 29 CYLD

Anatomical Context for Brooke-Spiegler Syndrome

MalaCards organs/tissues related to Brooke-Spiegler Syndrome:

40
Skin, Salivary Gland, Eye, Nk Cells, T Cells, Lymph Node, Smooth Muscle

Publications for Brooke-Spiegler Syndrome

Articles related to Brooke-Spiegler Syndrome:

(show top 50) (show all 177)
# 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 6 56
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. 6 56 61
12190880 2002
6
Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas. 56 6
19807742 2009
7
CYLD mutations in familial skin appendage tumours. 61 24 56
18234730 2008
8
Identification of the familial cylindromatosis tumour-suppressor gene. 24 6
10835629 2000
9
Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. 61 56
19462465 2009
10
Genetics of skin appendage neoplasms and related syndromes. 56 61
16272260 2005
11
Brooke-Spiegler syndrome locus assigned to 16q12-q13. 56 61
10792569 2000
12
Brooke-Spiegler syndrome variant: segregation of tumor types with mixed differentiation in two generations. 56 61
9504671 1998
13
A nevoid plaque with histological changes of trichoepithelioma and cylindroma in Brooke-Spiegler syndrome. An immunohistochemical study with cytokeratins. 61 56
8835176 1995
14
Spiradenomas in Brooke-Spiegler syndrome. 56 61
7684205 1993
15
CYLD Cutaneous Syndrome 6
32298062 2020
16
Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome. 61 24
31624251 2019
17
Brooke-Spiegler Syndrome and Phenotypic Variants: An Update. 61 24
26971504 2016
18
Phenotype-genotype correlations for clinical variants caused by CYLD mutations. 24 61
25782638 2015
19
CYLD GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas. 61 24
25737804 2015
20
Enucleation of cylindromas in Brooke-Spiegler syndrome: a novel surgical technique. 24 61
25361203 2014
21
Large germline deletions of the CYLD gene in patients with Brooke-Spiegler syndrome and multiple familial trichoepithelioma. 61 24
25347032 2014
22
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. 24 61
23249834 2013
23
Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction. 61 24
19917957 2009
24
Familial cylindromatosis and brooke-spiegler syndrome: a review of current therapeutic approaches and the surgical challenges posed by two affected families. 24 61
19397670 2009
25
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. 61 24
19194280 2009
26
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
27
Turban tumour with involvement of the parotid gland. 61 24
10748863 1999
28
Familial cutaneous cylindromas: investigations in five generations of a family. 56
7622645 1995
29
Familial occurrence of malignant lymphoepithelial lesion of the parotid gland in a Finnish family with dominantly inherited trichoepithelioma. 56
3275484 1988
30
Familial clustering of salivary gland carcinoma in Greenland. 56
3955517 1986
31
[On the nosology of Spiegler-Brookes tumors]. 56
13709529 1961
32
A large family with CYLD cutaneous syndrome: medical genetics at the community level. 24
31792733 2020
33
Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission. 24
31085270 2019
34
A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation. 24
31082376 2019
35
Abstracts from the 51st European Society of Human Genetics Conference: Posters. 24
31270413 2019
36
ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma. 24
31101826 2019
37
Marie Unna hereditary hypotrichosis accompanied by multiple familial trichoepithelioma in a Chinese family. 24
30809827 2019
38
Tracking tumor kinetics in patients with germline CYLD mutations. 24
29660420 2018
39
Squamous Cell Carcinoma and Multiple Familial Trichoepitheliomas: A Recurrent Association. 24
29972217 2018
40
Inherited pulmonary cylindromas: extending the phenotype of CYLD mutation carriers. 24
29569226 2018
41
Targeting Tropomyosin Receptor Kinase in Cutaneous CYLD Defective Tumors With Pegcantratinib: The TRAC Randomized Clinical Trial. 24
29955768 2018
42
Frequent and differential mutations of the CYLD gene in basal cell salivary neoplasms: linkage to tumor development and progression. 24
29463883 2018
43
Milia: a useful clinical marker of CYLD mutation carrier status. 24
29023940 2018
44
Multiple Facial Trichoepitheliomas and Vulval Cysts: Extending the Phenotypic Spectrum in CYLD Cutaneous Syndrome. 24
28423152 2017
45
SPATA2-Mediated Binding of CYLD to HOIP Enables CYLD Recruitment to Signaling Complexes. 24
27545878 2016
46
Twelve Years' Observation of Multiple Familial Trichoepithelioma with Squamous Carcinoma. 24
27293274 2016
47
LUBAC-Recruited CYLD and A20 Regulate Gene Activation and Cell Death by Exerting Opposing Effects on Linear Ubiquitin in Signaling Complexes. 24
26670046 2015
48
Inherited cylindromas: lessons from a rare tumour. 24
26370355 2015
49
A mutational hotspot in CYLD causing cylindromas: a comparison of phenotypes arising in different genetic backgrounds. 24
23584127 2013
50
Skull invaders: when surgical pathology and neuropathology worlds collide. 24
23771219 2013

Variations for Brooke-Spiegler Syndrome

ClinVar genetic disease variations for Brooke-Spiegler Syndrome:

6 (show top 50) (show all 129) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYLD NM_015247.2(CYLD):c.2252del (p.Cys751fs)deletion Pathogenic 5254 16:50826518-50826518 16:50792607-50792607
2 CYLD CYLD, 1-BP DEL, 2172Adeletion Pathogenic 5255
3 CYLD NM_001042355.2(CYLD):c.2229_2230AG[1] (p.Glu744fs)short repeat Pathogenic 5256 16:50825598-50825599 16:50791687-50791688
4 CYLD NM_015247.2(CYLD):c.1826+2T>GSNV Pathogenic 5257 16:50816379-50816379 16:50782468-50782468
5 CYLD NM_015247.2(CYLD):c.2240A>G (p.Glu747Gly)SNV Pathogenic 5258 rs121908389 16:50825600-50825600 16:50791689-50791689
6 CYLD NM_015247.2(CYLD):c.2806C>T (p.Arg936Ter)SNV Pathogenic 5259 rs121908390 16:50830354-50830354 16:50796443-50796443
7 CYLD NM_015247.2(CYLD):c.1392dup (p.Gly465fs)duplication Pathogenic 5261 16:50813828-50813829 16:50779917-50779918
8 CYLD NM_015247.2(CYLD):c.968_977del (p.Ser323fs)deletion Pathogenic 267230 rs886040870 16:50810132-50810141 16:50776221-50776230
9 CYLD NM_015247.2(CYLD):c.1537dup (p.Cys513fs)duplication Pathogenic 267235 rs886040874 16:50815174-50815175 16:50781263-50781264
10 CYLD NM_015247.2(CYLD):c.1599dup (p.Val534fs)duplication Pathogenic 267236 rs886040875 16:50815234-50815235 16:50781323-50781324
11 CYLD NM_015247.2(CYLD):c.2108G>A (p.Arg703Lys)SNV Pathogenic 267245 rs886040884 16:50821763-50821763 16:50787852-50787852
12 CYLD NM_015247.2(CYLD):c.2138_2139dup (p.Phe714fs)duplication Pathogenic 267246 rs886040885 16:50825497-50825498 16:50791586-50791587
13 CYLD NM_015247.2(CYLD):c.2342T>C (p.Leu781Pro)SNV Uncertain significance 267250 rs886040889 16:50826608-50826608 16:50792697-50792697
14 CYLD NM_015247.2(CYLD):c.-161A>GSNV Uncertain significance 319495 rs886052051 16:50778740-50778740 16:50744829-50744829
15 CYLD NM_015247.2(CYLD):c.-23A>CSNV Uncertain significance 319496 rs771486432 16:50783587-50783587 16:50749676-50749676
16 CYLD NM_015247.2(CYLD):c.1950-5_1950-2deldeletion Uncertain significance 267242 rs886040881 16:50820760-50820763 16:50786849-50786852
17 CYLD NM_015247.2(CYLD):c.*1102G>ASNV Uncertain significance 319519 rs141088048 16:50831521-50831521 16:50797610-50797610
18 CYLD NM_015247.2(CYLD):c.*1245T>CSNV Uncertain significance 319520 rs192470603 16:50831664-50831664 16:50797753-50797753
19 CYLD NM_015247.2(CYLD):c.*1308A>GSNV Uncertain significance 319521 rs886052054 16:50831727-50831727 16:50797816-50797816
20 CYLD NM_015247.2(CYLD):c.*1667G>TSNV Uncertain significance 319526 rs750022206 16:50832086-50832086 16:50798175-50798175
21 CYLD NM_015247.2(CYLD):c.*1746C>TSNV Uncertain significance 319528 rs886052057 16:50832165-50832165 16:50798254-50798254
22 CYLD NM_015247.2(CYLD):c.*1810A>TSNV Uncertain significance 319529 rs886052058 16:50832229-50832229 16:50798318-50798318
23 CYLD NM_015247.2(CYLD):c.*2556A>GSNV Uncertain significance 319540 rs747682326 16:50832975-50832975 16:50799064-50799064
24 CYLD NM_015247.2(CYLD):c.*2975C>TSNV Uncertain significance 319545 rs886052062 16:50833394-50833394 16:50799483-50799483
25 CYLD NM_015247.2(CYLD):c.*3305A>GSNV Uncertain significance 319551 rs886052065 16:50833724-50833724 16:50799813-50799813
26 CYLD NM_015247.2(CYLD):c.1503C>T (p.Leu501=)SNV Uncertain significance 319504 rs752471076 16:50813940-50813940 16:50780029-50780029
27 CYLD NM_015247.2(CYLD):c.*3731C>TSNV Uncertain significance 319557 rs551109634 16:50834150-50834150 16:50800239-50800239
28 CYLD NM_015247.2(CYLD):c.*4702C>TSNV Uncertain significance 319567 rs886052070 16:50835121-50835121 16:50801210-50801210
29 CYLD NM_015247.2(CYLD):c.*4841G>ASNV Uncertain significance 319568 rs886052071 16:50835260-50835260 16:50801349-50801349
30 CYLD NM_015247.2(CYLD):c.*5384A>GSNV Uncertain significance 319574 rs886052072 16:50835803-50835803 16:50801892-50801892
31 CYLD NM_015247.2(CYLD):c.-366G>CSNV Uncertain significance 319494 rs886052050 16:50776010-50776010 16:50742099-50742099
32 CYLD NM_015247.2(CYLD):c.*4494G>ASNV Uncertain significance 319563 rs546313281 16:50834913-50834913 16:50801002-50801002
33 CYLD NM_015247.2(CYLD):c.*403T>CSNV Uncertain significance 319512 rs886052052 16:50830822-50830822 16:50796911-50796911
34 CYLD NM_015247.2(CYLD):c.*1727T>CSNV Uncertain significance 319527 rs886052056 16:50832146-50832146 16:50798235-50798235
35 CYLD NM_015247.2(CYLD):c.*2305A>TSNV Uncertain significance 319536 rs559634329 16:50832724-50832724 16:50798813-50798813
36 CYLD NM_015247.2(CYLD):c.*2438G>ASNV Uncertain significance 319539 rs886052061 16:50832857-50832857 16:50798946-50798946
37 CYLD NM_015247.2(CYLD):c.665C>A (p.Thr222Lys)SNV Uncertain significance 133957 rs587778225 16:50785675-50785675 16:50751764-50751764
38 CYLD NC_000016.10:g.50742051T>CSNV Uncertain significance 886478 16:50775962-50775962 16:50742051-50742051
39 CYLD NM_001042355.2(CYLD):c.-215C>GSNV Uncertain significance 886479 16:50776024-50776024 16:50742113-50742113
40 CYLD NM_001042355.2(CYLD):c.1262C>A (p.Thr421Asn)SNV Uncertain significance 887795 16:50813708-50813708 16:50779797-50779797
41 CYLD NM_001042355.2(CYLD):c.1285A>C (p.Ser429Arg)SNV Uncertain significance 884650 16:50813731-50813731 16:50779820-50779820
42 CYLD NM_001042355.2(CYLD):c.2580T>C (p.Ala860=)SNV Uncertain significance 886616 16:50828242-50828242 16:50794331-50794331
43 CYLD NM_001042355.2(CYLD):c.*29T>CSNV Uncertain significance 887868 16:50830448-50830448 16:50796537-50796537
44 CYLD NM_001042355.2(CYLD):c.*59T>CSNV Uncertain significance 884715 16:50830478-50830478 16:50796567-50796567
45 CYLD NM_001042355.2(CYLD):c.*206A>CSNV Uncertain significance 884717 16:50830625-50830625 16:50796714-50796714
46 CYLD NM_001042355.2(CYLD):c.*280A>GSNV Uncertain significance 885654 16:50830699-50830699 16:50796788-50796788
47 CYLD NM_001042355.2(CYLD):c.*1033T>ASNV Uncertain significance 884773 16:50831452-50831452 16:50797541-50797541
48 CYLD NM_001042355.2(CYLD):c.*1034C>ASNV Uncertain significance 884774 16:50831453-50831453 16:50797542-50797542
49 CYLD NM_001042355.2(CYLD):c.*1191C>GSNV Uncertain significance 885714 16:50831610-50831610 16:50797699-50797699
50 CYLD NM_001042355.2(CYLD):c.*1191C>TSNV Uncertain significance 885715 16:50831610-50831610 16:50797699-50797699

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 12.04 VIM KRT8 KRT7 KRT19 BAP1
2
Show member pathways
12.01 KRT8 KRT7 KRT19 KRT14
3
Show member pathways
11.05 VIM KRT8 KRT7 KRT19 KRT14
4 10.68 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 nuclear matrix GO:0016363 9.43 VIM TP53 KRT8
2 keratin filament GO:0045095 9.33 KRT8 KRT7 KRT14
3 dystrophin-associated glycoprotein complex GO:0016010 9.32 KRT8 KRT19
4 cell periphery GO:0071944 9.13 KRT8 KRT19 KRT14
5 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 viral process GO:0016032 9.72 VIM TP53 KRT8 KRT7 KRT19
2 keratinization GO:0031424 9.46 KRT8 KRT7 KRT19 KRT14
3 negative regulation of multicellular organism growth GO:0040015 9.26 PTCH1 BBS2
4 cell differentiation involved in embryonic placenta development GO:0060706 8.96 KRT8 KRT19
5 cornification GO:0070268 8.92 KRT8 KRT7 KRT19 KRT14

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.13 VIM KRT19 KRT14
2 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
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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