MCID: BRK001
MIFTS: 45

Brooke-Spiegler Syndrome

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

Aliases & Classifications for Brooke-Spiegler Syndrome

MalaCards integrated aliases for Brooke-Spiegler Syndrome:

Name: Brooke-Spiegler Syndrome 53 12 49 24 55 71 36 14 69
Spiegler-Brooke Syndrome 53 49 24 71 28 13
Brss 53 49 24 71
Bss 53 24 71
Sbs 53 49 71
Ancell-Spiegler Cylindromas 49 69
Spiegler-Brooke Syndrome; Sbs 53
Carcinoma, Skin Appendage 41
Eccrine Dermal Cylindroma 69
Schilbach-Rott Syndrome 69
Cyld Cutaneous Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
brooke-spiegler syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

53
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:



External Ids:

OMIM 53 605041
Disease Ontology 12 DOID:0050693
Orphanet 55 ORPHA79493
MESH via Orphanet 42 C536611
UMLS via Orphanet 70 C1857941
MedGen 39 C1857941
MeSH 41 D018280
KEGG 36 H00827

Summaries for Brooke-Spiegler Syndrome

NIH Rare Diseases : 49 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. Last updated: 2/18/2015

MalaCards based summary : Brooke-Spiegler Syndrome, also known as spiegler-brooke syndrome, is related to spiradenoma and basal cell carcinoma, and has symptoms including milia and neoplasm. 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 Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Genetics Home Reference : 24 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 : 53 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 : 71 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.

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 105)
# Related Disease Score Top Affiliating Genes
1 spiradenoma 30.4 CYLD KRT14 KRT7
2 basal cell carcinoma 28.9 CYLD KRT14 KRT7 KRT8 PTCH1
3 bernard-soulier syndrome 11.9
4 multiple familial trichoepithelioma 11.7
5 basal cell carcinoma 1 11.7
6 sick building syndrome 11.4
7 cylindromatosis, familial 11.3
8 schilbach-rott syndrome 11.3
9 camptocormism 11.3
10 short bowel syndrome 11.3
11 neural tube defects 11.3
12 sebastian syndrome 11.1
13 barber-say syndrome 11.1
14 brown-sequard syndrome 11.1
15 congenital short bowel syndrome 10.9
16 malignant cylindroma 10.3
17 anus basaloid carcinoma 10.2 CYLD KRT7
18 neurofibromatosis, type iv, of riccardi 10.1
19 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
20 adenoiditis 10.1
21 lymphoma 10.1
22 syringoma 10.1
23 pustulosis of palm and sole 10.1
24 adenoma 10.1
25 psoriasis 10.1
26 basal cell carcinoma, multiple 10.1
27 benign breast adenomyoepithelioma 10.1 KRT14 KRT7
28 pigmented basal cell carcinoma 10.1 KRT14 PTCH1
29 large cell acanthoma 10.0 KRT14 KRT7
30 oncocytic breast carcinoma 10.0 KRT14 KRT7
31 bronchitis 10.0
32 breast adenomyoepithelioma 10.0 KRT14 KRT7
33 breast myoepithelial neoplasm 10.0 KRT14 KRT7
34 polycystic liver disease 1 10.0 KRT7 PTCH1
35 lipoadenoma 10.0 KRT14 KRT7
36 epithelial-myoepithelial carcinoma 10.0 KRT14 KRT7
37 blood group, i system 10.0
38 integumentary system cancer 10.0 KRT7 PTCH1
39 white sponge nevus 1 9.9 KRT14 KRT7
40 proliferating trichilemmal cyst 9.9 KRT7 KRT8
41 endolymphatic sac tumor 9.9 KRT7 KRT8
42 calcifying epithelial odontogenic tumor 9.9 KRT8 PTCH1
43 cutaneous adenocystic carcinoma 9.9 KRT7 KRT8
44 hidrocystoma 9.9 KRT7 KRT8
45 prostate squamous cell carcinoma 9.9 KRT7 KRT8
46 asthma 9.9
47 shaken baby syndrome 9.9
48 nasal cavity cancer 9.9 KRT7 KRT8
49 mycobacterium tuberculosis 1 9.9
50 common cold 9.9

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



Diseases related to Brooke-Spiegler Syndrome

Symptoms & Phenotypes for Brooke-Spiegler Syndrome

Symptoms via clinical synopsis from OMIM:

53
SkinNailsHairSkin:
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:

31
# Description HPO Frequency HPO Source Accession
1 milia 31 HP:0001056
2 neoplasm 31 HP:0002664

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

25
# 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:

43
# 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 28 CYLD

Anatomical Context for Brooke-Spiegler Syndrome

MalaCards organs/tissues related to Brooke-Spiegler Syndrome:

38
Skin, Salivary Gland, Eye

Publications for Brooke-Spiegler Syndrome

Articles related to Brooke-Spiegler Syndrome:

(show top 50) (show all 75)
# Title Authors Year
1
A Simple and Effective Method for Treating Cylindromas in Brooke-Spiegler Syndrome. ( 28388989 )
2017
2
Sporadic Trichoblastomas and Those Occurring in the Setting of Multiple Familial Trichoepithelioma/Brooke-Spiegler Syndrome Show No BAP1 Loss. ( 28098597 )
2017
3
Brooke-Spiegler syndrome: focus on reflectance confocal microscopy findings of trichoepithelioma and flat cylindroma. ( 28976013 )
2017
4
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
5
Brooke-Spiegler Syndrome and Phenotypic Variants: An Update. ( 26971504 )
2016
6
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
7
A novel CYLD gene mutation and multiple basal cell carcinomas in a patient with Brooke-Spiegler syndrome. ( 25976026 )
2015
8
Brooke-Spiegler Syndrome - an underrecognized cause of multiple familial scalp tumors: report of a new germline mutation. ( 26512302 )
2015
9
Brooke-Spiegler syndrome clinically misdiagnosed as neurofibromatosis type 1. ( 25502717 )
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
Basal Cell Carcinoma in a Patient With Brooke-Spiegler Syndrome. ( 26861436 )
2015
13
<i>CYLD</i> GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas. ( 25737804 )
2015
14
Malignant cylindroma in a patient with Brooke-Spiegler syndrome. ( 26114054 )
2015
15
Brooke-spiegler syndrome: a rare entity. ( 24587929 )
2014
16
Late-onset Brooke-Spiegler syndrome with family histories of various cancers. ( 24628357 )
2014
17
Syndrome in question. Brooke-Spiegler syndrome. ( 24626672 )
2014
18
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
19
Large Germline Deletions of the CYLD Gene in Patients With Brooke-Spiegler Syndrome and Multiple Familial Trichoepithelioma. ( 25347032 )
2014
20
A novel CYLD germline mutation in Brooke-Spiegler syndrome. ( 25131725 )
2014
21
Enucleation of Cylindromas in Brooke-Spiegler Syndrome: A Novel Surgical Technique. ( 25361203 )
2014
22
Brooke-Spiegler syndrome associated with ulcerative rectosigmoiditis. ( 22735777 )
2013
23
A new Cylindromatosis (CYLD) gene mutation in a case of Brooke-Spiegler syndrome masquerading as basal cell carcinoma of the eyelids. ( 22689134 )
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
Atypical Adnexal Tumors Adjacent to Basal Cell Carcinoma: A Difficult Problem in Patients with Brooke-Spiegler Syndrome Undergoing Mohs Surgery. ( 24372646 )
2013
26
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
27
A novel germline mutation in the CYLD gene in a Slovak patient with Brooke-Spiegler syndrome. ( 23641715 )
2013
28
Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma and eccrine spiradenoma. ( 24261740 )
2013
29
Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes. ( 22077640 )
2012
30
A novel missense mutation of the CYLD gene identified in a Hungarian family with Brooke-Spiegler syndrome. ( 23171463 )
2012
31
Brooke-spiegler syndrome: a rare entity. ( 22628987 )
2012
32
Brooke-spiegler syndrome with multiple scalp cylindromas and bilateral parotid gland adenomas. ( 22606564 )
2012
33
Brooke-Spiegler syndrome. ( 23286806 )
2012
34
Basal cell carcinoma arising in association with trichoepithelioma in a case of Brooke-Spiegler syndrome with a novel genetic mutation in CYLD. ( 22882113 )
2012
35
Radiofrequency ablation: a safe and economical modality in treatment of Brooke-Spiegler syndrome. ( 22948057 )
2012
36
Comparing ablative fractionated resurfacing, photodynamic therapy, and topical imiquimod in the treatment of trichoblastomas of Brooke-Spiegler Syndrome: a case study. ( 21388481 )
2011
37
New mutation in the CYLD gene within a family with Brooke-Spiegler syndrome. ( 20151946 )
2010
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 a case with a novel mutation in the CYLD gene and different types of somatic mutations in benign and malignant tumors. ( 20132422 )
2010
40
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
41
Dermoscopy of Brooke-Spiegler syndrome. ( 19620580 )
2009
42
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
43
Adenoid cystic carcinoma-like pattern in spiradenoma and spiradenocylindroma: a rare feature in sporadic neoplasms and those associated with Brooke-Spiegler syndrome. ( 19633533 )
2009
44
Familial cylindromatosis and brooke-spiegler syndrome: a review of current therapeutic approaches and the surgical challenges posed by two affected families. ( 19397670 )
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
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
47
Brooke-Spiegler syndrome with associated pegged teeth. ( 19090338 )
2008
48
Brooke-Spiegler syndrome complicated by unilateral hearing loss. ( 18986490 )
2008
49
Brooke-Spiegler syndrome: report of a case of multiple cylindromas and trichoepitheliomas. ( 18718192 )
2008
50
Brooke-Spiegler syndrome. ( 19171990 )
2008

Variations for Brooke-Spiegler Syndrome

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

71
# Symbol AA change Variation ID SNP ID
1 CYLD p.Glu747Gly VAR_045967 rs121908389

ClinVar genetic disease variations for Brooke-Spiegler Syndrome:

6
# 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.2806C> T (p.Arg936Ter) single nucleotide variant Pathogenic rs121908390 GRCh37 Chromosome 16, 50830354: 50830354
5 CYLD CYLD, 1-BP DUP, 1392T duplication Pathogenic
6 CYLD NM_015247.2(CYLD): c.968_977delCAAGAGGTGT (p.Ser323Leufs) deletion Pathogenic rs886040870 GRCh37 Chromosome 16, 50810135: 50810144
7 CYLD NM_015247.2(CYLD): c.1537dupT (p.Cys513Leufs) duplication Pathogenic rs886040874 GRCh37 Chromosome 16, 50815175: 50815175
8 CYLD NM_015247.2(CYLD): c.1599dupT (p.Val534Cysfs) duplication Pathogenic rs886040875 GRCh37 Chromosome 16, 50815237: 50815237
9 CYLD NM_015247.2(CYLD): c.2108G> A (p.Arg703Lys) single nucleotide variant Pathogenic rs886040884 GRCh37 Chromosome 16, 50821763: 50821763
10 CYLD NM_015247.2(CYLD): c.2138_2139dupAC (p.Phe714Thrfs) duplication Pathogenic rs886040885 GRCh38 Chromosome 16, 50791587: 50791588

Cosmic variations for Brooke-Spiegler Syndrome:

9 (show top 50) (show all 353)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM17483 PTCH1 skin,neck,carcinoma,basal cell carcinoma c.1729-1G>T p.? 10
2 COSM17468 PTCH1 skin,neck,carcinoma,basal cell carcinoma c.584G>T p.R195M 10
3 COSM29053 PTCH1 skin,neck,carcinoma,basal cell carcinoma c.833G>A p.W278* 10
4 COSM29072 PTCH1 skin,neck,carcinoma,basal cell carcinoma c.1067+1G>A p.? 10
5 COSM14452 PTCH1 skin,neck,carcinoma,basal cell carcinoma c.2321G>A p.G774E 10
6 COSM498 HRAS skin,neck,carcinoma,NS c.182A>T p.Q61L 9
7 COSM43635 TP53 skin,NS,carcinoma,basal cell carcinoma c.536A>T p.H179L 8
8 COSM44097 TP53 skin,NS,carcinoma,basal cell carcinoma c.530C>T p.P177L 8
9 COSM43920 TP53 skin,NS,carcinoma,basal cell carcinoma c.680C>T p.S227F 8
10 COSM43582 TP53 skin,NS,carcinoma,basal cell carcinoma c.454C>T p.P152S 8
11 COSM10812 TP53 skin,NS,carcinoma,basal cell carcinoma c.722C>T p.S241F 8
12 COSM45734 TP53 skin,NS,carcinoma,basal cell carcinoma c.622G>T p.D208Y 8
13 COSM44096 TP53 skin,NS,carcinoma,basal cell carcinoma c.748C>G p.P250A 8
14 COSM43616 TP53 skin,NS,carcinoma,basal cell carcinoma c.704A>G p.N235S 8
15 COSM43596 TP53 skin,NS,carcinoma,basal cell carcinoma c.841G>A p.D281N 8
16 COSM10656 TP53 skin,NS,carcinoma,basal cell carcinoma c.742C>T p.R248W 8
17 COSM44310 TP53 skin,NS,carcinoma,basal cell carcinoma c.738G>A p.M246I 8
18 COSM11084 TP53 skin,NS,carcinoma,basal cell carcinoma c.517G>A p.V173M 8
19 COSM45138 TP53 skin,NS,carcinoma,basal cell carcinoma c.853G>C p.E285Q 8
20 COSM43700 TP53 skin,NS,carcinoma,basal cell carcinoma c.712T>A p.C238S 8
21 COSM10768 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 8
22 COSM10887 TP53 skin,NS,carcinoma,basal cell carcinoma c.833C>G p.P278R 8
23 COSM44241 TP53 skin,NS,carcinoma,basal cell carcinoma c.592G>T p.E198* 8
24 COSM10660 TP53 skin,NS,carcinoma,basal cell carcinoma c.818G>A p.R273H 8
25 COSM45751 TP53 skin,NS,carcinoma,basal cell carcinoma c.511G>C p.E171Q 8
26 COSM44130 TP53 skin,NS,carcinoma,basal cell carcinoma c.477C>T p.A159A 8
27 COSM10705 TP53 skin,NS,carcinoma,basal cell carcinoma c.586C>T p.R196* 8
28 COSM10728 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 8
29 COSM43842 TP53 skin,NS,carcinoma,basal cell carcinoma c.770T>C p.L257P 8
30 COSM43695 TP53 skin,NS,carcinoma,basal cell carcinoma c.748C>T p.P250S 8
31 COSM11376 TP53 skin,NS,carcinoma,basal cell carcinoma c.737T>G p.M246R 8
32 COSM10704 TP53 skin,NS,carcinoma,basal cell carcinoma c.844C>T p.R282W 8
33 COSM10662 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>A p.R248Q 8
34 COSM45074 TP53 skin,NS,carcinoma,basal cell carcinoma c.829T>G p.C277G 8
35 COSM10863 TP53 skin,NS,carcinoma,basal cell carcinoma c.833C>T p.P278L 8
36 COSM45739 TP53 skin,NS,carcinoma,basal cell carcinoma c.677G>C p.G226A 8
37 COSM45322 TP53 skin,NS,carcinoma,basal cell carcinoma c.757A>G p.T253A 8
38 COSM44606 TP53 skin,NS,carcinoma,basal cell carcinoma c.665C>T p.P222L 8
39 COSM44295 TP53 skin,NS,carcinoma,basal cell carcinoma c.993+1G>A p.? 8
40 COSM10650 TP53 skin,NS,carcinoma,basal cell carcinoma c.529C>T p.P177S 8
41 COSM43665 TP53 skin,NS,carcinoma,basal cell carcinoma c.746G>C p.R249T 8
42 COSM45774 TP53 skin,NS,carcinoma,basal cell carcinoma c.899C>G p.P300R 8
43 COSM10749 TP53 skin,NS,carcinoma,basal cell carcinoma c.830G>T p.C277F 8
44 COSM11449 TP53 skin,NS,carcinoma,basal cell carcinoma c.388C>T p.L130F 8
45 COSM10771 TP53 skin,NS,carcinoma,basal cell carcinoma c.749C>T p.P250L 8
46 COSM44068 TP53 skin,NS,carcinoma,basal cell carcinoma c.532C>A p.H178N 8
47 COSM11152 TP53 skin,NS,carcinoma,basal cell carcinoma c.700T>C p.Y234H 8
48 COSM45834 TP53 skin,NS,carcinoma,basal cell carcinoma c.409C>A p.L137M 8
49 COSM10905 TP53 skin,NS,carcinoma,basal cell carcinoma c.451C>T p.P151S 8
50 COSM6932 TP53 skin,NS,carcinoma,basal cell carcinoma c.733G>A p.G245S 8

Expression for Brooke-Spiegler Syndrome

Search GEO for disease gene expression data for Brooke-Spiegler Syndrome.

Pathways for Brooke-Spiegler Syndrome

Pathways related to Brooke-Spiegler Syndrome according to KEGG:

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
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 9.26 CYLD PTCH1
2 cell periphery GO:0071944 9.16 KRT14 KRT8
3 intermediate filament GO:0005882 9.13 KRT14 KRT7 KRT8
4 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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