BRSS
MCID: BRK001
MIFTS: 47

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 58 12 54 26 60 76 38 15 74
Spiegler-Brooke Syndrome 58 54 26 76 30 13 6 41
Brss 58 54 26 76
Sbs 58 54 76
Bss 58 26 76
Ancell-Spiegler Cylindromas 54 74
Spiegler-Brooke Syndrome; Sbs 58
Carcinoma, Skin Appendage 45
Eccrine Dermal Cylindroma 74
Skin Appendage Carcinoma 17
Schilbach-Rott Syndrome 74
Cyld Cutaneous Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
brooke-spiegler syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
brooke-spiegler syndrome:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0050693
OMIM 58 605041
KEGG 38 H00827
MeSH 45 D018280
MESH via Orphanet 46 C536611
UMLS via Orphanet 75 C1857941
Orphanet 60 ORPHA79493
MedGen 43 C1857941

Summaries for Brooke-Spiegler Syndrome

NIH Rare Diseases : 54 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.

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. Affiliated tissues include skin, salivary gland and liver, 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.

Genetics Home Reference : 26 Brooke-Spiegler syndrome is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, and cylindromas. Spiradenomas develop in sweat glands. Trichoepitheliomas arise from hair follicles. The origin of cylindromas has been unclear; while previously thought to derive from sweat glands, they are now generally believed to begin in hair follicles. The tumors associated with Brooke-Spiegler syndrome are generally noncancerous (benign), but occasionally they may become cancerous (malignant). Affected individuals are also at increased risk of developing tumors in tissues other than skin appendages, particularly benign or malignant tumors of the salivary glands.

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 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 122)
# Related Disease Score Top Affiliating Genes
1 spiradenoma 30.9 CYLD KRT14
2 basal cell carcinoma 30.3 CYLD KRT8 PTCH1
3 bernard-soulier syndrome 12.1
4 basal cell carcinoma 1 11.8
5 cylindromatosis, familial 11.8
6 barber-say syndrome 11.8
7 sick building syndrome 11.6
8 schilbach-rott syndrome 11.5
9 short bowel syndrome 11.5
10 camptocormism 11.5
11 neural tube defects 11.4
12 shaken baby syndrome 11.4
13 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 11.4
14 brown-sequard syndrome 11.3
15 cowden syndrome 1 11.1
16 congenital short bowel syndrome 11.1
17 blood group, gerbich system 10.8
18 multiple familial trichoepithelioma 10.6
19 trichoepithelioma, multiple familial, 1 10.4
20 malignant cylindroma 10.4
21 bronchitis 10.4
22 neurofibromatosis, type i 10.3
23 neurofibromatosis, type iv, of riccardi 10.3
24 pulmonary disease, chronic obstructive 10.3
25 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
26 sinusitis 10.3
27 lymphoma 10.3
28 adenoid cystic carcinoma 10.3
29 syringoma 10.3
30 psoriasis 10.3
31 retinoblastoma 10.2
32 endophthalmitis 10.2
33 blood group, junior system 10.2
34 intraocular pressure quantitative trait locus 10.2
35 intestinal schistosomiasis 10.1
36 schistosomiasis 10.1
37 isolated optic neuritis 10.1
38 glaucoma-related pigment dispersion syndrome 10.1
39 acute insulin response 10.1
40 common cold 10.1
41 horns in sheep 10.0
42 pigmented basal cell carcinoma 10.0 KRT14 PTCH1
43 sweat gland disease 10.0 CYLD KRT14
44 hepatocellular carcinoma 10.0
45 multiple sclerosis 10.0
46 rheumatoid arthritis 10.0
47 cystic fibrosis 10.0
48 aging 10.0
49 asthma 10.0
50 pemphigus foliaceus 10.0

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:

33
# Description HPO Frequency HPO Source Accession
1 neoplasm 33 HP:0002664
2 milia 33 HP:0001056

Symptoms via clinical synopsis from OMIM:

58
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:

47 (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

Search Clinical Trials , 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 30 CYLD

Anatomical Context for Brooke-Spiegler Syndrome

MalaCards organs/tissues related to Brooke-Spiegler Syndrome:

42
Skin, Salivary Gland, Liver, Brain, Bone, Breast, Bone Marrow

Publications for Brooke-Spiegler Syndrome

Articles related to Brooke-Spiegler Syndrome:

(show top 50) (show all 85)
# Title Authors Year
1
Brooke-Spiegler syndrome with chronic obstructive pulmonary disease and chronic sinusitis. ( 30628115 )
2019
2
Trichoblastic carcinoma arising in trichoepithelioma in Brooke-Spiegler syndrome. ( 30971565 )
2019
3
CYLD mutations differentially affect splicing and mRNA decay in Brooke-Spiegler syndrome. ( 29478249 )
2018
4
Turban Tumor: A Classical Presentation of Brooke-Spiegler Syndrome. ( 30050828 )
2018
5
Brooke-Spiegler Syndrome. ( 30093932 )
2018
6
A rare case of Brooke-Spiegler syndrome: integrated surgical treatment of multiple giant eccrine spiradenomas of the head and neck in a young girl. ( 30241087 )
2018
7
Brooke-Spiegler Syndrome: Two Patients From a Turkish Family With Multiple Familial Trichoepithelioma. ( 30252697 )
2018
8
Sporadic Trichoblastomas and Those Occurring in the Setting of Multiple Familial Trichoepithelioma/Brooke-Spiegler Syndrome Show No BAP1 Loss. ( 28098597 )
2017
9
A Simple and Effective Method for Treating Cylindromas in Brooke-Spiegler Syndrome. ( 28388989 )
2017
10
Brooke-Spiegler syndrome: focus on reflectance confocal microscopy findings of trichoepithelioma and flat cylindroma. ( 28976013 )
2017
11
A novel CYLD gene mutation and multiple basal cell carcinomas in a patient with Brooke-Spiegler syndrome. ( 25976026 )
2016
12
Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation. ( 26329847 )
2016
13
A case of Brooke-Spiegler syndrome with a novel mutation in the CYLD gene in a patient with aggressive non-Hodgkin's lymphoma. ( 26660106 )
2016
14
The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene. ( 26861065 )
2016
15
Brooke-Spiegler Syndrome and Phenotypic Variants: An Update. ( 26971504 )
2016
16
Basal Cell Carcinoma in a Patient With Brooke-Spiegler Syndrome. ( 26861436 )
2015
17
A novel CYLD germline mutation in Brooke-Spiegler syndrome. ( 25131725 )
2015
18
Brooke-Spiegler syndrome clinically misdiagnosed as neurofibromatosis type 1. ( 25502717 )
2015
19
CYLD GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas. ( 25737804 )
2015
20
Brooke-Spiegler syndrome presenting multiple concurrent cutaneous and parotid gland neoplasms: cytologic findings on fine-needle sample and description of a novel mutation of the CYLD gene. ( 25995191 )
2015
21
Malignant cylindroma in a patient with Brooke-Spiegler syndrome. ( 26114054 )
2015
22
Brooke-Spiegler Syndrome - an underrecognized cause of multiple familial scalp tumors: report of a new germline mutation. ( 26512302 )
2015
23
Atypical adnexal tumors adjacent to basal cell carcinoma: a difficult problem in patients with Brooke-Spiegler syndrome undergoing Mohs surgery. ( 24372646 )
2014
24
Brooke-Spiegler syndrome tumor spectrum beyond the skin: a patient carrying germline R936X CYLD mutation and a somatic CYLD mutation in Brenner tumor. ( 24559443 )
2014
25
Brooke-spiegler syndrome: a rare entity. ( 24587929 )
2014
26
Syndrome in question. Brooke-Spiegler syndrome. ( 24626672 )
2014
27
Late-onset Brooke-Spiegler syndrome with family histories of various cancers. ( 24628357 )
2014
28
Large germline deletions of the CYLD gene in patients with Brooke-Spiegler syndrome and multiple familial trichoepithelioma. ( 25347032 )
2014
29
Enucleation of cylindromas in Brooke-Spiegler syndrome: a novel surgical technique. ( 25361203 )
2014
30
A new Cylindromatosis (CYLD) gene mutation in a case of Brooke-Spiegler syndrome masquerading as basal cell carcinoma of the eyelids. ( 22689134 )
2013
31
A clinicopathologic and molecular biologic study of patients presenting with few adnexal tumors (two to four) from the morphological spectrum of Brooke-Spiegler syndrome. ( 22588548 )
2013
32
Brooke-Spiegler syndrome associated with ulcerative rectosigmoiditis. ( 22735777 )
2013
33
Novel and recurrent germline and somatic mutations in a cohort of 67 patients from 48 families with Brooke-Spiegler syndrome including the phenotypic variant of multiple familial trichoepitheliomas and correlation with the histopathologic findings in 379 biopsy specimens. ( 23249834 )
2013
34
A novel germline mutation in the CYLD gene in a Slovak patient with Brooke-Spiegler syndrome. ( 23641715 )
2013
35
Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma and eccrine spiradenoma. ( 24261740 )
2013
36
Basal cell carcinoma arising in association with trichoepithelioma in a case of Brooke-Spiegler syndrome with a novel genetic mutation in CYLD. ( 22882113 )
2012
37
Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes. ( 22077640 )
2012
38
Brooke-spiegler syndrome with multiple scalp cylindromas and bilateral parotid gland adenomas. ( 22606564 )
2012
39
Brooke-spiegler syndrome: a rare entity. ( 22628987 )
2012
40
Radiofrequency ablation: a safe and economical modality in treatment of Brooke-Spiegler syndrome. ( 22948057 )
2012
41
A novel missense mutation of the CYLD gene identified in a Hungarian family with Brooke-Spiegler syndrome. ( 23171463 )
2012
42
Brooke-Spiegler syndrome. ( 23286806 )
2012
43
Comparing ablative fractionated resurfacing, photodynamic therapy, and topical imiquimod in the treatment of trichoblastomas of Brooke-Spiegler Syndrome: a case study. ( 21388481 )
2011
44
Expression of p53 and TP53 mutational analysis in malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma, sporadic or associated with Brooke-Spiegler syndrome. ( 20075707 )
2010
45
Brooke-Spiegler syndrome: report of a case with a novel mutation in the CYLD gene and different types of somatic mutations in benign and malignant tumors. ( 20132422 )
2010
46
New mutation in the CYLD gene within a family with Brooke-Spiegler syndrome. ( 20151946 )
2010
47
Brooke-Spiegler syndrome: report of 10 patients from 8 families with novel germline mutations: evidence of diverse somatic mutations in the same patient regardless of tumor type. ( 20502185 )
2010
48
Adenoid cystic carcinoma-like pattern in spiradenoma and spiradenocylindroma: a rare feature in sporadic neoplasms and those associated with Brooke-Spiegler syndrome. ( 19633533 )
2009
49
Morphologic diversity of malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma based on the study of 24 cases, sporadic or occurring in the setting of Brooke-Spiegler syndrome. ( 19194280 )
2009
50
Familial cylindromatosis and brooke-spiegler syndrome: a review of current therapeutic approaches and the surgical challenges posed by two affected families. ( 19397670 )
2009

Variations for Brooke-Spiegler Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 CYLD p.Glu747Gly VAR_045967 rs121908389

ClinVar genetic disease variations for Brooke-Spiegler Syndrome:

6 (show top 50) (show all 183)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYLD CYLD, 1-BP DEL, 2253G deletion Pathogenic
2 CYLD CYLD, 1-BP DEL, 2172A deletion Pathogenic
3 CYLD NM_015247.2(CYLD): c.2240A> G (p.Glu747Gly) single nucleotide variant Pathogenic rs121908389 GRCh37 Chromosome 16, 50825600: 50825600
4 CYLD NM_015247.2(CYLD): c.2240A> G (p.Glu747Gly) single nucleotide variant Pathogenic rs121908389 GRCh38 Chromosome 16, 50791689: 50791689
5 CYLD NM_015247.2(CYLD): c.2806C> T (p.Arg936Ter) single nucleotide variant Pathogenic rs121908390 GRCh37 Chromosome 16, 50830354: 50830354
6 CYLD NM_015247.2(CYLD): c.2806C> T (p.Arg936Ter) single nucleotide variant Pathogenic rs121908390 GRCh38 Chromosome 16, 50796443: 50796443
7 CYLD CYLD, 1-BP DUP, 1392T duplication Pathogenic
8 CYLD NM_015247.2(CYLD): c.1292G> A (p.Gly431Glu) single nucleotide variant Likely benign rs200494719 GRCh37 Chromosome 16, 50813729: 50813729
9 CYLD NM_015247.2(CYLD): c.1292G> A (p.Gly431Glu) single nucleotide variant Likely benign rs200494719 GRCh38 Chromosome 16, 50779818: 50779818
10 CYLD NM_015247.2(CYLD): c.968_977delCAAGAGGTGT (p.Ser323Leufs) deletion Pathogenic rs886040870 GRCh38 Chromosome 16, 50776224: 50776233
11 CYLD NM_015247.2(CYLD): c.968_977delCAAGAGGTGT (p.Ser323Leufs) deletion Pathogenic rs886040870 GRCh37 Chromosome 16, 50810135: 50810144
12 CYLD NM_015247.2(CYLD): c.1537dupT (p.Cys513Leufs) duplication Pathogenic rs886040874 GRCh38 Chromosome 16, 50781264: 50781264
13 CYLD NM_015247.2(CYLD): c.1537dupT (p.Cys513Leufs) duplication Pathogenic rs886040874 GRCh37 Chromosome 16, 50815175: 50815175
14 CYLD NM_015247.2(CYLD): c.1599dupT (p.Val534Cysfs) duplication Pathogenic rs886040875 GRCh38 Chromosome 16, 50781326: 50781326
15 CYLD NM_015247.2(CYLD): c.1599dupT (p.Val534Cysfs) duplication Pathogenic rs886040875 GRCh37 Chromosome 16, 50815237: 50815237
16 CYLD NM_015247.2(CYLD): c.2108G> A (p.Arg703Lys) single nucleotide variant Pathogenic rs886040884 GRCh38 Chromosome 16, 50787852: 50787852
17 CYLD NM_015247.2(CYLD): c.2108G> A (p.Arg703Lys) single nucleotide variant Pathogenic rs886040884 GRCh37 Chromosome 16, 50821763: 50821763
18 CYLD NM_015247.2(CYLD): c.2138_2139dupAC (p.Phe714Thrfs) duplication Pathogenic rs886040885 GRCh38 Chromosome 16, 50791587: 50791588
19 CYLD NM_015247.2(CYLD): c.2138_2139dupAC (p.Phe714Thrfs) duplication Pathogenic rs886040885 GRCh37 Chromosome 16, 50825498: 50825499
20 CYLD NM_015247.2(CYLD): c.2342T> C (p.Leu781Pro) single nucleotide variant Uncertain significance rs886040889 GRCh38 Chromosome 16, 50792697: 50792697
21 CYLD NM_015247.2(CYLD): c.2342T> C (p.Leu781Pro) single nucleotide variant Uncertain significance rs886040889 GRCh37 Chromosome 16, 50826608: 50826608
22 CYLD NM_015247.2(CYLD): c.-161A> G single nucleotide variant Uncertain significance rs886052051 GRCh37 Chromosome 16, 50778740: 50778740
23 CYLD NM_015247.2(CYLD): c.-161A> G single nucleotide variant Uncertain significance rs886052051 GRCh38 Chromosome 16, 50744829: 50744829
24 CYLD NM_015247.2(CYLD): c.-23A> C single nucleotide variant Uncertain significance rs771486432 GRCh37 Chromosome 16, 50783587: 50783587
25 CYLD NM_015247.2(CYLD): c.-23A> C single nucleotide variant Uncertain significance rs771486432 GRCh38 Chromosome 16, 50749676: 50749676
26 CYLD NM_015247.2(CYLD): c.1172T> C (p.Ile391Thr) single nucleotide variant Likely benign rs138976689 GRCh38 Chromosome 16, 50779698: 50779698
27 CYLD NM_015247.2(CYLD): c.1172T> C (p.Ile391Thr) single nucleotide variant Likely benign rs138976689 GRCh37 Chromosome 16, 50813609: 50813609
28 CYLD NM_015247.2(CYLD): c.1473C> T (p.Ile491=) single nucleotide variant Likely benign rs75757530 GRCh38 Chromosome 16, 50779999: 50779999
29 CYLD NM_015247.2(CYLD): c.1473C> T (p.Ile491=) single nucleotide variant Likely benign rs75757530 GRCh37 Chromosome 16, 50813910: 50813910
30 CYLD NM_015247.2(CYLD): c.1503C> T (p.Leu501=) single nucleotide variant Uncertain significance rs752471076 GRCh38 Chromosome 16, 50780029: 50780029
31 CYLD NM_015247.2(CYLD): c.1503C> T (p.Leu501=) single nucleotide variant Uncertain significance rs752471076 GRCh37 Chromosome 16, 50813940: 50813940
32 CYLD NM_015247.2(CYLD): c.*837A> G single nucleotide variant Benign rs3743781 GRCh38 Chromosome 16, 50797345: 50797345
33 CYLD NM_015247.2(CYLD): c.*837A> G single nucleotide variant Benign rs3743781 GRCh37 Chromosome 16, 50831256: 50831256
34 CYLD NM_015247.2(CYLD): c.*1102G> A single nucleotide variant Likely benign rs141088048 GRCh38 Chromosome 16, 50797610: 50797610
35 CYLD NM_015247.2(CYLD): c.*1102G> A single nucleotide variant Likely benign rs141088048 GRCh37 Chromosome 16, 50831521: 50831521
36 CYLD NM_015247.2(CYLD): c.*1245T> C single nucleotide variant Likely benign rs192470603 GRCh38 Chromosome 16, 50797753: 50797753
37 CYLD NM_015247.2(CYLD): c.*1245T> C single nucleotide variant Likely benign rs192470603 GRCh37 Chromosome 16, 50831664: 50831664
38 CYLD NM_015247.2(CYLD): c.*1308A> G single nucleotide variant Uncertain significance rs886052054 GRCh38 Chromosome 16, 50797816: 50797816
39 CYLD NM_015247.2(CYLD): c.*1308A> G single nucleotide variant Uncertain significance rs886052054 GRCh37 Chromosome 16, 50831727: 50831727
40 CYLD NM_015247.2(CYLD): c.*1575G> A single nucleotide variant Likely benign rs184344245 GRCh38 Chromosome 16, 50798083: 50798083
41 CYLD NM_015247.2(CYLD): c.*1575G> A single nucleotide variant Likely benign rs184344245 GRCh37 Chromosome 16, 50831994: 50831994
42 CYLD NM_015247.2(CYLD): c.*1667G> T single nucleotide variant Uncertain significance rs750022206 GRCh37 Chromosome 16, 50832086: 50832086
43 CYLD NM_015247.2(CYLD): c.*1667G> T single nucleotide variant Uncertain significance rs750022206 GRCh38 Chromosome 16, 50798175: 50798175
44 CYLD NM_015247.2(CYLD): c.*1746C> T single nucleotide variant Uncertain significance rs886052057 GRCh37 Chromosome 16, 50832165: 50832165
45 CYLD NM_015247.2(CYLD): c.*1746C> T single nucleotide variant Uncertain significance rs886052057 GRCh38 Chromosome 16, 50798254: 50798254
46 CYLD NM_015247.2(CYLD): c.*1810A> T single nucleotide variant Uncertain significance rs886052058 GRCh37 Chromosome 16, 50832229: 50832229
47 CYLD NM_015247.2(CYLD): c.*1810A> T single nucleotide variant Uncertain significance rs886052058 GRCh38 Chromosome 16, 50798318: 50798318
48 CYLD NM_015247.2(CYLD): c.*2556A> G single nucleotide variant Uncertain significance rs747682326 GRCh37 Chromosome 16, 50832975: 50832975
49 CYLD NM_015247.2(CYLD): c.*2556A> G single nucleotide variant Uncertain significance rs747682326 GRCh38 Chromosome 16, 50799064: 50799064
50 CYLD NM_015247.2(CYLD): c.*2975C> T single nucleotide variant Uncertain significance rs886052062 GRCh38 Chromosome 16, 50799483: 50799483

Cosmic variations for Brooke-Spiegler Syndrome:

9 (show top 50) (show all 1155)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6926860 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.5825G>A p.G1942E 16:72796857-72796857 0
2 COSM6969201 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 0
3 COSM6953811 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 0
4 COSM6926862 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 0
5 COSM6936924 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 0
6 COSM3691166 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 0
7 COSM6926861 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 0
8 COSM212945 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 0
9 COSM1658946 VWA5B1 salivary gland,parotid,carcinoma,NS c.1486G>A p.V496I 1:20330897-20330897 0
10 COSM5030964 VHL salivary gland,parotid,carcinoma,NS c.319C>T p.R107C 3:10142166-10142166 0
11 COSM1659032 TXNRD3 salivary gland,parotid,carcinoma,NS c.412A>G p.K138E 3:126647293-126647293 0
12 COSM6936922 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 0
13 COSM6926855 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 0
14 COSM6953809 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 0
15 COSM6912933 TRAF7 skin,NS,carcinoma,basal cell carcinoma c.1802C>T p.T601I 16:2176104-2176104 0
16 COSM6949578 TP63 skin,NS,carcinoma,basal cell carcinoma c.1922C>T p.A641V 3:189894381-189894381 0
17 COSM44071 TP53 skin,NS,carcinoma,basal cell carcinoma c.955A>G p.K319E 17:7673573-7673573 0
18 COSM44097 TP53 skin,face,carcinoma,basal cell carcinoma c.530C>T p.P177L 17:7675082-7675082 0
19 COSM10812 TP53 skin,NS,carcinoma,basal cell carcinoma c.722C>T p.S241F 17:7674241-7674241 0
20 COSM10988 TP53 skin,NS,carcinoma,basal cell carcinoma c.772G>A p.E258K 17:7674191-7674191 0
21 COSM45074 TP53 skin,NS,carcinoma,basal cell carcinoma c.829T>G p.C277G 17:7673791-7673791 0
22 COSM10728 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 17:7673781-7673781 0
23 COSM45739 TP53 skin,NS,carcinoma,basal cell carcinoma c.677G>C p.G226A 17:7674286-7674286 0
24 COSM10654 TP53 salivary gland,parotid,carcinoma,NS c.637C>T p.R213* 17:7674894-7674894 0
25 COSM10705 TP53 skin,face,carcinoma,NS c.586C>T p.R196* 17:7674945-7674945 0
26 COSM5030953 TP53 salivary gland,parotid,carcinoma,NS c.38C>T p.P13L 17:7676557-7676557 0
27 COSM44295 TP53 skin,face,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 0
28 COSM10939 TP53 skin,face,carcinoma,basal cell carcinoma c.832C>T p.P278S 17:7673788-7673788 0
29 COSM43544 TP53 skin,face,carcinoma,NS c.260C>A p.P87Q 17:7676109-7676109 0
30 COSM10650 TP53 skin,NS,carcinoma,basal cell carcinoma c.529C>T p.P177S 17:7675083-7675083 0
31 COSM44326 TP53 skin,face,carcinoma,NS c.706T>C p.Y236H 17:7674257-7674257 0
32 COSM10662 TP53 skin,face,carcinoma,basal cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 0
33 COSM43665 TP53 skin,NS,carcinoma,basal cell carcinoma c.746G>C p.R249T 17:7674217-7674217 0
34 COSM43632 TP53 salivary gland,parotid,carcinoma,NS c.493C>T p.Q165* 17:7675119-7675119 0
35 COSM45774 TP53 skin,NS,carcinoma,basal cell carcinoma c.899C>G p.P300R 17:7673721-7673721 0
36 COSM10749 TP53 skin,NS,carcinoma,basal cell carcinoma c.830G>T p.C277F 17:7673790-7673790 0
37 COSM11305 TP53 salivary gland,parotid,carcinoma,NS c.809T>C p.F270S 17:7673811-7673811 0
38 COSM10660 TP53 skin,NS,carcinoma,basal cell carcinoma c.818G>A p.R273H 17:7673802-7673802 0
39 COSM11449 TP53 skin,face,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 0
40 COSM44640 TP53 salivary gland,parotid,carcinoma,NS c.782+1G>T p.? 17:7674180-7674180 0
41 COSM10771 TP53 skin,NS,carcinoma,basal cell carcinoma c.749C>T p.P250L 17:7674214-7674214 0
42 COSM44068 TP53 skin,face,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 0
43 COSM11152 TP53 skin,NS,carcinoma,basal cell carcinoma c.700T>C p.Y234H 17:7674263-7674263 0
44 COSM45307 TP53 salivary gland,parotid,carcinoma,NS c.309C>A p.Y103* 17:7676060-7676060 0
45 COSM10768 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 17:7675077-7675077 0
46 COSM45834 TP53 skin,NS,carcinoma,basal cell carcinoma c.409C>A p.L137M 17:7675203-7675203 0
47 COSM10905 TP53 skin,NS,carcinoma,basal cell carcinoma c.451C>T p.P151S 17:7675161-7675161 0
48 COSM6932 TP53 skin,NS,carcinoma,basal cell carcinoma c.733G>A p.G245S 17:7674230-7674230 0
49 COSM10648 TP53 skin,NS,carcinoma,basal cell carcinoma c.524G>A p.R175H 17:7675088-7675088 0
50 COSM45424 TP53 skin,NS,carcinoma,basal cell carcinoma c.781A>T p.S261C 17:7674182-7674182 0

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:

38
# 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 CYLD PTCH1
2
Show member pathways
10.66 KRT14 KRT8

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

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

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

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 BAP1 CYLD
2 thiol-dependent ubiquitinyl hydrolase activity GO:0036459 8.96 BAP1 CYLD
3 thiol-dependent ubiquitin-specific protease activity GO:0004843 8.62 BAP1 CYLD

Sources for Brooke-Spiegler Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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