MCID: BRK001
MIFTS: 44

Brooke-Spiegler Syndrome

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

Aliases & Classifications for Brooke-Spiegler Syndrome

MalaCards integrated aliases for Brooke-Spiegler Syndrome:

Name: Brooke-Spiegler Syndrome 57 12 53 25 59 75 37 15 73
Spiegler-Brooke Syndrome 57 53 25 75 29 13 6 40
Brss 57 53 25 75
Sbs 57 53 75
Bss 57 25 75
Ancell-Spiegler Cylindromas 53 73
Spiegler-Brooke Syndrome; Sbs 57
Carcinoma, Skin Appendage 44
Eccrine Dermal Cylindroma 73
Schilbach-Rott Syndrome 73
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:



External Ids:

OMIM 57 605041
Disease Ontology 12 DOID:0050693
Orphanet 59 ORPHA79493
UMLS via Orphanet 74 C1857941
MESH via Orphanet 45 C536611
MedGen 42 C1857941
MeSH 44 D018280
KEGG 37 H00827

Summaries for Brooke-Spiegler Syndrome

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.

MalaCards based summary : Brooke-Spiegler Syndrome, also known as spiegler-brooke syndrome, is related to spiradenoma and adenoid cystic 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 Keratinization. Affiliated tissues include skin, salivary gland and eye, and related phenotypes are milia and neoplasm

Genetics Home Reference : 25 Brooke-Spiegler syndrome is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, and cylindromas. Spiradenomas develop in sweat glands. Trichoepitheliomas arise from hair follicles. The origin of cylindromas has been unclear; while previously thought to derive from sweat glands, they are now generally believed to begin in hair follicles. The tumors associated with Brooke-Spiegler syndrome are generally noncancerous (benign), but occasionally they may become cancerous (malignant). Affected individuals are also at increased risk of developing tumors in tissues other than skin appendages, particularly benign or malignant tumors of the salivary glands.

OMIM : 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)

UniProtKB/Swiss-Prot : 75 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 : 76 Multiple familial trichoepithelioma (also known as Brooke–Spiegler syndrome and epithelioma adenoides... 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 101)
# Related Disease Score Top Affiliating Genes
1 spiradenoma 30.2 CYLD KRT14 KRT7
2 adenoid cystic carcinoma 29.5 CYLD KRT14 KRT7
3 basal cell carcinoma 27.8 CYLD KRT14 KRT7 KRT8 PTCH1
4 bernard-soulier syndrome 11.9
5 multiple familial trichoepithelioma 11.7
6 basal cell carcinoma 1 11.7
7 sick building syndrome 11.4
8 cylindromatosis, familial 11.3
9 schilbach-rott syndrome 11.3
10 camptocormism 11.3
11 short bowel syndrome 11.3
12 neural tube defects 11.3
13 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 11.2
14 barber-say syndrome 11.1
15 brown-sequard syndrome 11.1
16 congenital short bowel syndrome 10.9
17 anus basaloid carcinoma 10.3 CYLD KRT7
18 malignant cylindroma 10.3
19 neurofibromatosis, type i 10.1
20 neurofibromatosis, type iv, of riccardi 10.1
21 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
22 adenoiditis 10.1
23 lymphoma 10.1
24 syringoma 10.1
25 adenoma 10.1
26 psoriasis 10.1
27 basal cell carcinoma, multiple 10.1
28 benign breast adenomyoepithelioma 10.1 KRT14 KRT7
29 pigmented basal cell carcinoma 10.1 KRT14 PTCH1
30 large cell acanthoma 10.1 KRT14 KRT7
31 oncocytic breast carcinoma 10.1 KRT14 KRT7
32 breast adenomyoepithelioma 10.1 KRT14 KRT7
33 bronchitis 10.1
34 breast myoepithelial neoplasm 10.0 KRT14 KRT7
35 lipoadenoma 10.0 KRT14 KRT7
36 epithelial-myoepithelial carcinoma 10.0 KRT14 KRT7
37 integumentary system cancer 10.0 KRT7 PTCH1
38 polycystic liver disease 1 with or without kidney cysts 9.9 KRT7 PTCH1
39 white sponge nevus 1 9.9 KRT14 KRT7
40 common cold 9.9
41 endophthalmitis 9.9
42 asthma 9.9
43 shaken baby syndrome 9.9
44 proliferating trichilemmal cyst 9.9 KRT7 KRT8
45 endolymphatic sac tumor 9.9 KRT7 KRT8
46 calcifying epithelial odontogenic tumor 9.9 KRT8 PTCH1
47 hidrocystoma 9.8 KRT7 KRT8
48 cutaneous adenocystic carcinoma 9.8 KRT7 KRT8
49 nasal cavity cancer 9.8 KRT7 KRT8
50 pleomorphic carcinoma 9.8 KRT7 KRT8

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



Diseases related to Brooke-Spiegler Syndrome

Symptoms & Phenotypes for Brooke-Spiegler Syndrome

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
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
milia

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


Clinical features from OMIM:

605041

Human phenotypes related to Brooke-Spiegler Syndrome:

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.53 KRT8
2 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.53 KRT7 KRT8
3 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.53 KRT7 KRT8
4 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.53 KRT8
5 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.53 KRT7 KRT8

MGI Mouse Phenotypes related to Brooke-Spiegler Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.46 CYLD KRT14 KRT8 PTCH1
2 hearing/vestibular/ear MP:0005377 9.13 KRT14 KRT8 PTCH1
3 homeostasis/metabolism MP:0005376 9.02 CYLD KRT14 KRT7 KRT8 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 29 CYLD

Anatomical Context for Brooke-Spiegler Syndrome

MalaCards organs/tissues related to Brooke-Spiegler Syndrome:

41
Skin, Salivary Gland, Eye

Publications for Brooke-Spiegler Syndrome

Articles related to Brooke-Spiegler Syndrome:

(show top 50) (show all 76)
# Title Authors Year
1
CYLD mutations differentially affect splicing and mRNA decay in Brooke-Spiegler syndrome. ( 29478249 )
2018
2
Brooke-Spiegler syndrome: focus on reflectance confocal microscopy findings of trichoepithelioma and flat cylindroma. ( 28976013 )
2017
3
A Simple and Effective Method for Treating Cylindromas in Brooke-Spiegler Syndrome. ( 28388989 )
2017
4
Sporadic Trichoblastomas and Those Occurring in the Setting of Multiple Familial Trichoepithelioma/Brooke-Spiegler Syndrome Show No BAP1 Loss. ( 28098597 )
2017
5
Brooke-Spiegler Syndrome and Phenotypic Variants: An Update. ( 26971504 )
2016
6
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
7
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
8
A novel CYLD gene mutation and multiple basal cell carcinomas in a patient with Brooke-Spiegler syndrome. ( 25976026 )
2015
9
Brooke-Spiegler Syndrome - an underrecognized cause of multiple familial scalp tumors: report of a new germline mutation. ( 26512302 )
2015
10
Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation. ( 26329847 )
2015
11
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
12
Malignant cylindroma in a patient with Brooke-Spiegler syndrome. ( 26114054 )
2015
13
&amp;lt;i&amp;gt;CYLD&amp;lt;/i&amp;gt; GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas. ( 25737804 )
2015
14
Basal Cell Carcinoma in a Patient With Brooke-Spiegler Syndrome. ( 26861436 )
2015
15
Brooke-Spiegler syndrome clinically misdiagnosed as neurofibromatosis type 1. ( 25502717 )
2015
16
A novel CYLD germline mutation in Brooke-Spiegler syndrome. ( 25131725 )
2014
17
Large Germline Deletions of the CYLD Gene in Patients With Brooke-Spiegler Syndrome and Multiple Familial Trichoepithelioma. ( 25347032 )
2014
18
Syndrome in question. Brooke-Spiegler syndrome. ( 24626672 )
2014
19
Brooke-spiegler syndrome: a rare entity. ( 24587929 )
2014
20
Enucleation of Cylindromas in Brooke-Spiegler Syndrome: A Novel Surgical Technique. ( 25361203 )
2014
21
Late-onset Brooke-Spiegler syndrome with family histories of various cancers. ( 24628357 )
2014
22
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
23
A novel germline mutation in the CYLD gene in a Slovak patient with Brooke-Spiegler syndrome. ( 23641715 )
2013
24
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
25
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
26
Atypical Adnexal Tumors Adjacent to Basal Cell Carcinoma: A Difficult Problem in Patients with Brooke-Spiegler Syndrome Undergoing Mohs Surgery. ( 24372646 )
2013
27
A new Cylindromatosis (CYLD) gene mutation in a case of Brooke-Spiegler syndrome masquerading as basal cell carcinoma of the eyelids. ( 22689134 )
2013
28
Brooke-Spiegler syndrome associated with ulcerative rectosigmoiditis. ( 22735777 )
2013
29
Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma and eccrine spiradenoma. ( 24261740 )
2013
30
Brooke-spiegler syndrome: a rare entity. ( 22628987 )
2012
31
Basal cell carcinoma arising in association with trichoepithelioma in a case of Brooke-Spiegler syndrome with a novel genetic mutation in CYLD. ( 22882113 )
2012
32
Radiofrequency ablation: a safe and economical modality in treatment of Brooke-Spiegler syndrome. ( 22948057 )
2012
33
A novel missense mutation of the CYLD gene identified in a Hungarian family with Brooke-Spiegler syndrome. ( 23171463 )
2012
34
Brooke-Spiegler syndrome. ( 23286806 )
2012
35
Brooke-spiegler syndrome with multiple scalp cylindromas and bilateral parotid gland adenomas. ( 22606564 )
2012
36
Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes. ( 22077640 )
2012
37
Comparing ablative fractionated resurfacing, photodynamic therapy, and topical imiquimod in the treatment of trichoblastomas of Brooke-Spiegler Syndrome: a case study. ( 21388481 )
2011
38
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
39
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
40
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
41
New mutation in the CYLD gene within a family with Brooke-Spiegler syndrome. ( 20151946 )
2010
42
Familial cylindromatosis and brooke-spiegler syndrome: a review of current therapeutic approaches and the surgical challenges posed by two affected families. ( 19397670 )
2009
43
A case of Brooke-Spiegler syndrome with a novel germline deep intronic mutation in the CYLD gene leading to intronic exonization, diverse somatic mutations, and unusual histology. ( 19668078 )
2009
44
Adenoid cystic carcinoma-like pattern in spiradenoma and spiradenocylindroma: a rare feature in sporadic neoplasms and those associated with Brooke-Spiegler syndrome. ( 19633533 )
2009
45
Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. ( 19462465 )
2009
46
Dermoscopy of Brooke-Spiegler syndrome. ( 19620580 )
2009
47
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
48
Brooke-Spiegler syndrome with associated pegged teeth. ( 19090338 )
2008
49
Brooke-Spiegler syndrome complicated by unilateral hearing loss. ( 18986490 )
2008
50
Brooke-Spiegler syndrome: report of a case of multiple cylindromas and trichoepitheliomas. ( 18718192 )
2008

Variations for Brooke-Spiegler Syndrome

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

75
# 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 181)
# 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.968_977delCAAGAGGTGT (p.Ser323Leufs) deletion Pathogenic rs886040870 GRCh38 Chromosome 16, 50776224: 50776233
9 CYLD NM_015247.2(CYLD): c.968_977delCAAGAGGTGT (p.Ser323Leufs) deletion Pathogenic rs886040870 GRCh37 Chromosome 16, 50810135: 50810144
10 CYLD NM_015247.2(CYLD): c.1537dupT (p.Cys513Leufs) duplication Pathogenic rs886040874 GRCh38 Chromosome 16, 50781264: 50781264
11 CYLD NM_015247.2(CYLD): c.1537dupT (p.Cys513Leufs) duplication Pathogenic rs886040874 GRCh37 Chromosome 16, 50815175: 50815175
12 CYLD NM_015247.2(CYLD): c.1599dupT (p.Val534Cysfs) duplication Pathogenic rs886040875 GRCh38 Chromosome 16, 50781326: 50781326
13 CYLD NM_015247.2(CYLD): c.1599dupT (p.Val534Cysfs) duplication Pathogenic rs886040875 GRCh37 Chromosome 16, 50815237: 50815237
14 CYLD NM_015247.2(CYLD): c.2108G> A (p.Arg703Lys) single nucleotide variant Pathogenic rs886040884 GRCh38 Chromosome 16, 50787852: 50787852
15 CYLD NM_015247.2(CYLD): c.2108G> A (p.Arg703Lys) single nucleotide variant Pathogenic rs886040884 GRCh37 Chromosome 16, 50821763: 50821763
16 CYLD NM_015247.2(CYLD): c.2138_2139dupAC (p.Phe714Thrfs) duplication Pathogenic rs886040885 GRCh38 Chromosome 16, 50791587: 50791588
17 CYLD NM_015247.2(CYLD): c.2138_2139dupAC (p.Phe714Thrfs) duplication Pathogenic rs886040885 GRCh37 Chromosome 16, 50825498: 50825499
18 CYLD NM_015247.2(CYLD): c.2342T> C (p.Leu781Pro) single nucleotide variant Uncertain significance rs886040889 GRCh37 Chromosome 16, 50826608: 50826608
19 CYLD NM_015247.2(CYLD): c.2342T> C (p.Leu781Pro) single nucleotide variant Uncertain significance rs886040889 GRCh38 Chromosome 16, 50792697: 50792697
20 CYLD NM_015247.2(CYLD): c.-161A> G single nucleotide variant Uncertain significance rs886052051 GRCh37 Chromosome 16, 50778740: 50778740
21 CYLD NM_015247.2(CYLD): c.-161A> G single nucleotide variant Uncertain significance rs886052051 GRCh38 Chromosome 16, 50744829: 50744829
22 CYLD NM_015247.2(CYLD): c.-23A> C single nucleotide variant Uncertain significance rs771486432 GRCh37 Chromosome 16, 50783587: 50783587
23 CYLD NM_015247.2(CYLD): c.-23A> C single nucleotide variant Uncertain significance rs771486432 GRCh38 Chromosome 16, 50749676: 50749676
24 CYLD NM_015247.2(CYLD): c.1172T> C (p.Ile391Thr) single nucleotide variant Likely benign rs138976689 GRCh38 Chromosome 16, 50779698: 50779698
25 CYLD NM_015247.2(CYLD): c.1172T> C (p.Ile391Thr) single nucleotide variant Likely benign rs138976689 GRCh37 Chromosome 16, 50813609: 50813609
26 CYLD NM_015247.2(CYLD): c.1473C> T (p.Ile491=) single nucleotide variant Likely benign rs75757530 GRCh38 Chromosome 16, 50779999: 50779999
27 CYLD NM_015247.2(CYLD): c.1473C> T (p.Ile491=) single nucleotide variant Likely benign rs75757530 GRCh37 Chromosome 16, 50813910: 50813910
28 CYLD NM_015247.2(CYLD): c.1503C> T (p.Leu501=) single nucleotide variant Uncertain significance rs752471076 GRCh38 Chromosome 16, 50780029: 50780029
29 CYLD NM_015247.2(CYLD): c.1503C> T (p.Leu501=) single nucleotide variant Uncertain significance rs752471076 GRCh37 Chromosome 16, 50813940: 50813940
30 CYLD NM_015247.2(CYLD): c.*837A> G single nucleotide variant Benign rs3743781 GRCh38 Chromosome 16, 50797345: 50797345
31 CYLD NM_015247.2(CYLD): c.*837A> G single nucleotide variant Benign rs3743781 GRCh37 Chromosome 16, 50831256: 50831256
32 CYLD NM_015247.2(CYLD): c.*1102G> A single nucleotide variant Likely benign rs141088048 GRCh38 Chromosome 16, 50797610: 50797610
33 CYLD NM_015247.2(CYLD): c.*1102G> A single nucleotide variant Likely benign rs141088048 GRCh37 Chromosome 16, 50831521: 50831521
34 CYLD NM_015247.2(CYLD): c.*1245T> C single nucleotide variant Likely benign rs192470603 GRCh38 Chromosome 16, 50797753: 50797753
35 CYLD NM_015247.2(CYLD): c.*1245T> C single nucleotide variant Likely benign rs192470603 GRCh37 Chromosome 16, 50831664: 50831664
36 CYLD NM_015247.2(CYLD): c.*1308A> G single nucleotide variant Uncertain significance rs886052054 GRCh38 Chromosome 16, 50797816: 50797816
37 CYLD NM_015247.2(CYLD): c.*1308A> G single nucleotide variant Uncertain significance rs886052054 GRCh37 Chromosome 16, 50831727: 50831727
38 CYLD NM_015247.2(CYLD): c.*1575G> A single nucleotide variant Likely benign rs184344245 GRCh38 Chromosome 16, 50798083: 50798083
39 CYLD NM_015247.2(CYLD): c.*1575G> A single nucleotide variant Likely benign rs184344245 GRCh37 Chromosome 16, 50831994: 50831994
40 CYLD NM_015247.2(CYLD): c.*1667G> T single nucleotide variant Uncertain significance rs750022206 GRCh37 Chromosome 16, 50832086: 50832086
41 CYLD NM_015247.2(CYLD): c.*1667G> T single nucleotide variant Uncertain significance rs750022206 GRCh38 Chromosome 16, 50798175: 50798175
42 CYLD NM_015247.2(CYLD): c.*1746C> T single nucleotide variant Uncertain significance rs886052057 GRCh37 Chromosome 16, 50832165: 50832165
43 CYLD NM_015247.2(CYLD): c.*1746C> T single nucleotide variant Uncertain significance rs886052057 GRCh38 Chromosome 16, 50798254: 50798254
44 CYLD NM_015247.2(CYLD): c.*1810A> T single nucleotide variant Uncertain significance rs886052058 GRCh37 Chromosome 16, 50832229: 50832229
45 CYLD NM_015247.2(CYLD): c.*1810A> T single nucleotide variant Uncertain significance rs886052058 GRCh38 Chromosome 16, 50798318: 50798318
46 CYLD NM_015247.2(CYLD): c.*2556A> G single nucleotide variant Uncertain significance rs747682326 GRCh37 Chromosome 16, 50832975: 50832975
47 CYLD NM_015247.2(CYLD): c.*2556A> G single nucleotide variant Uncertain significance rs747682326 GRCh38 Chromosome 16, 50799064: 50799064
48 CYLD NM_015247.2(CYLD): c.*2975C> T single nucleotide variant Uncertain significance rs886052062 GRCh38 Chromosome 16, 50799483: 50799483
49 CYLD NM_015247.2(CYLD): c.*2975C> T single nucleotide variant Uncertain significance rs886052062 GRCh37 Chromosome 16, 50833394: 50833394
50 CYLD NM_015247.2(CYLD): c.*3305A> G single nucleotide variant Uncertain significance rs886052065 GRCh38 Chromosome 16, 50799813: 50799813

Cosmic variations for Brooke-Spiegler Syndrome:

9
(show top 50) (show all 1158)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM214343 CYLD skin,face,adnexal tumour,trichoepithelioma c.1327C>T p.Q443* 16:50779853-50779853 11
2 COSM17483 PTCH1 skin,neck,carcinoma,basal cell carcinoma c.1729-1G>T p.? 9:95469932-95469932 10
3 COSM17468 PTCH1 skin,neck,carcinoma,basal cell carcinoma c.584G>T p.R195M 9:95485685-95485685 10
4 COSM29053 PTCH1 skin,neck,carcinoma,basal cell carcinoma c.833G>A p.W278* 9:95480502-95480502 10
5 COSM29072 PTCH1 skin,neck,carcinoma,basal cell carcinoma c.1067+1G>A p.? 9:95479968-95479968 10
6 COSM14452 PTCH1 skin,neck,carcinoma,basal cell carcinoma c.2321G>A p.G774E 9:95467355-95467355 10
7 COSM44097 TP53 skin,face,carcinoma,basal cell carcinoma c.530C>T p.P177L 17:7675082-7675082 9
8 COSM10728 TP53 skin,face,carcinoma,basal cell carcinoma c.839G>A p.R280K 17:7673781-7673781 9
9 COSM44295 TP53 skin,face,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 9
10 COSM10939 TP53 skin,face,carcinoma,basal cell carcinoma c.832C>T p.P278S 17:7673788-7673788 9
11 COSM10662 TP53 skin,face,carcinoma,basal cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 9
12 COSM11449 TP53 skin,face,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 9
13 COSM44068 TP53 skin,face,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 9
14 COSM43582 TP53 skin,face,carcinoma,basal cell carcinoma c.454C>T p.P152S 17:7675158-7675158 9
15 COSM44552 TP53 skin,face,carcinoma,basal cell carcinoma c.509C>T p.T170M 17:7675103-7675103 9
16 COSM10726 TP53 skin,face,carcinoma,basal cell carcinoma c.856G>A p.E286K 17:7673764-7673764 9
17 COSM10992 TP53 skin,face,carcinoma,basal cell carcinoma c.844C>G p.R282G 17:7673776-7673776 9
18 COSM11073 TP53 skin,face,carcinoma,basal cell carcinoma c.1024C>T p.R342* 17:7670685-7670685 9
19 COSM45733 TP53 skin,face,carcinoma,basal cell carcinoma c.432G>A p.Q144Q 17:7675180-7675180 9
20 COSM43700 TP53 skin,face,carcinoma,basal cell carcinoma c.712T>A p.C238S 17:7674251-7674251 9
21 COSM44227 TP53 skin,face,carcinoma,basal cell carcinoma c.854A>T p.E285V 17:7673766-7673766 9
22 COSM44435 TP53 skin,face,carcinoma,basal cell carcinoma c.96+1G>A p.? 17:7676381-7676381 9
23 COSM43920 TP53 skin,face,carcinoma,basal cell carcinoma c.680C>T p.S227F 17:7674283-7674283 9
24 COSM44436 TP53 skin,face,carcinoma,basal cell carcinoma c.375+2T>C p.? 17:7675992-7675992 9
25 COSM11084 TP53 skin,face,carcinoma,basal cell carcinoma c.517G>A p.V173M 17:7675095-7675095 9
26 COSM43742 TP53 skin,face,carcinoma,basal cell carcinoma c.419C>T p.T140I 17:7675193-7675193 9
27 COSM10887 TP53 skin,face,carcinoma,basal cell carcinoma c.833C>G p.P278R 17:7673787-7673787 9
28 COSM44241 TP53 skin,face,carcinoma,basal cell carcinoma c.592G>T p.E198* 17:7674939-7674939 9
29 COSM607136 TGFBR1 skin,neck,carcinoma,NS c.1247C>T p.S416F 9:99146601-99146601 9
30 COSM13234 SUFU skin,face,carcinoma,basal cell carcinoma c.560C>T p.P187L 10:102592687-102592687 9
31 COSM13233 SUFU skin,face,carcinoma,basal cell carcinoma c.591C>T p.F197F 10:102592718-102592718 9
32 COSM3942016 SMO skin,face,carcinoma,basal cell carcinoma c.1376C>T p.A459V 7:129209307-129209307 9
33 COSM6962965 SMO skin,neck,carcinoma,NS c.1103C>T p.P368L 7:129206332-129206332 9
34 COSM13144 SMO skin,face,carcinoma,basal cell carcinoma c.1598G>A p.S533N 7:129210494-129210494 9
35 COSM13145 SMO skin,face,carcinoma,basal cell carcinoma c.595C>T p.R199W 7:129205260-129205260 9
36 COSM216037 SMO skin,face,carcinoma,basal cell carcinoma c.1234C>T p.L412F 7:129206557-129206557 9
37 COSM13240 SMO skin,face,carcinoma,basal cell carcinoma c.1955C>T p.A652V 7:129212042-129212042 9
38 COSM6962990 RARA skin,neck,carcinoma,NS c.1384C>T p.P462S 17:40356221-40356221 9
39 COSM6962984 RAD52 skin,neck,carcinoma,NS c.439G>A p.V147M 12:927173-927173 9
40 COSM6962994 PTPRT skin,neck,carcinoma,NS c.1607C>T p.S536L 20:42352239-42352239 9
41 COSM6962992 PTPRT skin,neck,carcinoma,NS c.1619G>A p.G540E 20:42352227-42352227 9
42 COSM6962970 PTPRD skin,neck,carcinoma,NS c.1736G>A p.S579N 9:8504347-8504347 9
43 COSM456125 PTPRD skin,neck,carcinoma,NS c.5048C>T p.S1683F 9:8341168-8341168 9
44 COSM1700914 PTPRD skin,neck,carcinoma,NS c.1261C>T p.P421S 9:8518130-8518130 9
45 COSM17598 PTCH1 skin,face,carcinoma,basal cell carcinoma c.550C>T p.Q184* 9:95485719-95485719 9
46 COSM29147 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1356T>G p.Y452* 9:95477694-95477694 9
47 COSM17511 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3583A>T p.T1195S 9:95449290-95449290 9
48 COSM17522 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3586C>T p.P1196S 9:95449287-95449287 9
49 COSM17495 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1229G>A p.S410N 9:95478173-95478173 9
50 COSM14439 PTCH1 skin,face,carcinoma,basal cell carcinoma c.992C>T p.S331F 9:95480044-95480044 9

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
Show member pathways
11.59 KRT14 KRT7 KRT8
2
Show member pathways
10.83 KRT14 KRT7 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 intermediate filament GO:0005882 9.13 KRT14 KRT7 KRT8
3 keratin filament GO:0045095 8.8 KRT14 KRT7 KRT8

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

# Name GO ID Score Top Affiliating Genes
1 epidermis development GO:0008544 9.26 KRT14 PTCH1
2 regulation of mitotic cell cycle GO:0007346 9.16 CYLD PTCH1
3 keratinization GO:0031424 9.13 KRT14 KRT7 KRT8
4 cornification GO:0070268 8.8 KRT14 KRT7 KRT8

Sources for Brooke-Spiegler Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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