BRSS
MCID: BRK001
MIFTS: 58

Brooke-Spiegler Syndrome (BRSS)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Brooke-Spiegler Syndrome

MalaCards integrated aliases for Brooke-Spiegler Syndrome:

Name: Brooke-Spiegler Syndrome 57 12 25 20 58 73 36 29 6 15 71
Spiegler-Brooke Syndrome 57 12 20 73 13 39
Cyld Cutaneous Syndrome 12 25 20 43 58
Brss 57 12 20 73
Sbs 57 12 20 73
Bss 57 12 25 73
Multiple Familial Trichoepithelioma 25 36 6
Ancell-Spiegler Cylindromas 20 71
Familial Cylindromatosis 25 20
Multiple Familial Trichoepitheliomas 20
Familial Multiple Trichoepithelioma 58
Spiegler-Brooke Syndrome; Sbs 57
Carcinoma, Skin Appendage 44
Eccrine Dermal Cylindroma 71
Skin Appendage Carcinoma 17
Schilbach-Rott Syndrome 71
Mft 25
Ccs 43
Fc 25

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®:

57 (Updated 05-Mar-2021)
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® 57 605041
MeSH 44 D018280
SNOMED-CT 67 703531009
MESH via Orphanet 45 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

MedlinePlus Genetics : 43 CYLD cutaneous syndrome is a genetic condition characterized by the growth of multiple noncancerous (benign) skin tumors. These tumors develop from structures associated with the skin (skin appendages), such as hair follicles. More than one type of skin tumor often develops, including benign growths called cylindromas, spiradenomas, and trichoepitheliomas. Cylindromas were previously thought to derive from sweat glands, but they are now generally believed to begin in hair follicles and often appear on the scalp. Spiradenomas are related to cylindromas and it is common to find features of both of these benign growths in a single tumor. Trichoepitheliomas arise from hair follicles and typically develop on the skin around the nose and upper lip.While the skin tumors associated with CYLD cutaneous syndrome are typically benign, occasionally they may become cancerous (malignant). When becoming malignant, tumors often grow rapidly and become open sores (ulcers). Affected individuals are also at increased risk of developing tumors in structures other than skin; for example benign or malignant tumors of the salivary glands occur in some people with the condition.            People with CYLD cutaneous syndrome typically begin developing tumors in late childhood or in their teens. For reasons that are unclear, females with CYLD cutaneous syndrome tend to develop more tumors than males with this condition. Tumors tend to grow larger and increase in number over time. Large benign tumors may become ulcers and prone to infections. The tumors are most often found on the head and neck, including the scalp. Tumors that occur in the eyes, ears, nose, or mouth can affect the senses, including vision and hearing. Less frequently, tumors develop on the torso, armpits, or genitals. Genital tumors may cause pain and sexual dysfunction. Rarely, cylindromas develop in the airways and can cause problems with breathing (respiratory insufficiency).The tumors in CYLD cutaneous syndrome can be disfiguring and may contribute to depression or other psychological problems. CYLD cutaneous syndrome includes the conditions previously called Brooke-Spiegler syndrome, multiple familial trichoepithelioma, and familial cylindromatosis. These conditions were once thought to be distinct disorders but are now considered to be the same condition.

MalaCards based summary : Brooke-Spiegler Syndrome, also known as spiegler-brooke syndrome, is related to cylindromatosis, familial and trichoepithelioma, multiple familial, 2. 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 lymph node, 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.

GARD : 20 CYLD cutaneous syndrome causes the growth of several types of non-cancerous (benign) skin tumors. Tumors mainly grow on the scalp and face, but can also grow on the torso, genitals and armpits. Tumors usually first appear in the teens or early adulthood. The types of tumors that occur in CYLD cutaneous syndrome may include cylindromas, spiradenomas, and trichoepitheliomas. The number of tumors increases over time, and in severe cases, tumors can cover most of the scalp. Rarely, a tumor will become cancerous. Other complications may include an increased risk to develop basal cell cancer of the salivary gland or deafness due to the growth of a tumor in the ear canal. CYLD cutaneous syndrome is caused by genetic variants in the CYLD gene and is inherited in an autosomal dominant pattern. Diagnosis of CYLD cutaneous syndrome is based on the symptoms, clinical exam, and microscopic exam of the tumor tissue. Results of genetic testing may help confirm the diagnosis. Treatment is focused on managing the symptoms, and typically involves many surgeries to remove the tumors. The conditions known as Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma are now recognized to be part of CYLD cutaneous syndrome.

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) (Updated 05-Mar-2021)

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 357)
# Related Disease Score Top Affiliating Genes
1 cylindromatosis, familial 32.8 CYLD-AS1 CYLD
2 trichoepithelioma, multiple familial, 2 32.6 MFT2 CYLD
3 spiradenoma 31.9 VIM TP53 KRT7 KRT14 CYLD
4 adenoid cystic carcinoma 31.2 VIM TP53 KRT7 KRT19 KRT14 CYLD
5 basal cell carcinoma 31.1 TP53 PTCH1 KRT8 KRT7 KRT19 KRT14
6 syringoma 31.0 VIM KRT7 KRT19
7 sarcomatoid carcinoma 30.9 VIM KRT7 KRT19 KRT14
8 small cell carcinoma 30.3 TP53 KRT8 KRT7 KRT19
9 cystitis 30.3 VIM TP53 KRT7
10 bernard-soulier syndrome 11.5
11 barber-say syndrome 11.4
12 schilbach-rott syndrome 11.3
13 basal cell carcinoma 1 11.3
14 cole-carpenter syndrome 11.3
15 camptocormism 11.3
16 sick building syndrome 11.3
17 polyposis, skin pigmentation, alopecia, and fingernail changes 11.2
18 amyotrophic lateral sclerosis 1 11.2
19 short bowel syndrome 11.2
20 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 11.2
21 epilepsy with bilateral occipital calcifications 11.2
22 wilson disease 11.1
23 brown-sequard syndrome 11.1
24 central cord syndrome 11.1
25 shaken baby syndrome 11.0
26 menkes disease 10.9
27 cowden syndrome 1 10.9
28 congenital short bowel syndrome 10.9
29 anus basaloid carcinoma 10.5 KRT7 CYLD
30 idiopathic corneal edema 10.5 KRT8 KRT19
31 pancreatic foamy gland adenocarcinoma 10.5 TP53 KRT7
32 nevus of ota 10.5 TP53 BAP1
33 endolymphatic sac tumor 10.5 KRT8 KRT7
34 fibroepithelial basal cell carcinoma 10.5 PTCH1 KRT14
35 subareolar duct papillomatosis 10.5 KRT8 KRT7
36 ovarian seromucinous carcinoma 10.5 TP53 KRT7
37 nipple benign neoplasm 10.5 KRT8 KRT7
38 regional odontodysplasia 10.5 VIM KRT19
39 breast hemangioma 10.5 TP53 KRT7
40 oncocytic breast carcinoma 10.5 KRT7 KRT14
41 esophageal basaloid squamous cell carcinoma 10.5 TP53 KRT14
42 ceruminous adenocarcinoma 10.5 KRT7 KRT14
43 renal pelvis adenocarcinoma 10.5 KRT7 KRT19
44 apocrine adenocarcinoma 10.5 TP53 KRT7
45 nodular hidradenoma 10.5 VIM KRT7
46 necrotizing sialometaplasia 10.5 TP53 KRT7
47 vulvar apocrine adenocarcinoma 10.5 KRT7 KRT19
48 calcifying epithelial odontogenic tumor 10.5 TP53 PTCH1 KRT8
49 malignant spiradenoma 10.5 TP53 KRT7 CYLD
50 synovium neoplasm 10.5 KRT8 KRT7

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 26)
# 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 trichoepithelioma 58 31 frequent (33%) Frequent (79-30%) HP:0025367
7 abnormal scalp morphology 31 frequent (33%) HP:0001965
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 facial palsy 58 31 very rare (1%) Very rare (<4-1%) HP:0010628
15 hearing impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0000365
16 visual impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0000505
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 abnormality of the scalp 58 Frequent (79-30%)
26 skin appendage neoplasm 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Brooke-Spiegler Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.56 BAP1 BBS2 CYLD KRT14 KRT19 KRT8
2 respiratory system MP:0005388 9.28 BAP1 BBS2 CYLD DCAF8 KRT14 KRT19

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 Brooke-Spiegler Syndrome 29 CYLD

Anatomical Context for Brooke-Spiegler Syndrome

MalaCards organs/tissues related to Brooke-Spiegler Syndrome:

40
Skin, Salivary Gland, Lymph Node, Smooth Muscle, Lung, Breast

Publications for Brooke-Spiegler Syndrome

Articles related to Brooke-Spiegler Syndrome:

(show top 50) (show all 183)
# Title Authors PMID Year
1
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. 61 6 57
16922728 2006
2
Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. 61 57 6
15854031 2005
3
A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome. 61 6 57
14632188 2003
4
Identification of a recurrent mutation in the CYLD gene in Brooke-Spiegler syndrome. 61 6 57
12950348 2003
5
Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages. 6 57 61
12190880 2002
6
Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas. 6 57
19807742 2009
7
CYLD mutations in familial skin appendage tumours. 57 25 61
18234730 2008
8
Identification of the familial cylindromatosis tumour-suppressor gene. 25 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 57
19462465 2009
10
Genetics of skin appendage neoplasms and related syndromes. 57 61
16272260 2005
11
Brooke-Spiegler syndrome locus assigned to 16q12-q13. 61 57
10792569 2000
12
Brooke-Spiegler syndrome variant: segregation of tumor types with mixed differentiation in two generations. 61 57
9504671 1998
13
A nevoid plaque with histological changes of trichoepithelioma and cylindroma in Brooke-Spiegler syndrome. An immunohistochemical study with cytokeratins. 57 61
8835176 1995
14
Spiradenomas in Brooke-Spiegler syndrome. 61 57
7684205 1993
15
Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome. 25 61
31624251 2019
16
Brooke-Spiegler Syndrome and Phenotypic Variants: An Update. 61 25
26971504 2016
17
Phenotype-genotype correlations for clinical variants caused by CYLD mutations. 61 25
25782638 2015
18
CYLD GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas. 25 61
25737804 2015
19
Enucleation of cylindromas in Brooke-Spiegler syndrome: a novel surgical technique. 61 25
25361203 2014
20
Large germline deletions of the CYLD gene in patients with Brooke-Spiegler syndrome and multiple familial trichoepithelioma. 61 25
25347032 2014
21
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. 61 25
23249834 2013
22
Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction. 61 25
19917957 2009
23
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. 25 61
19194280 2009
24
Familial cylindromatosis and brooke-spiegler syndrome: a review of current therapeutic approaches and the surgical challenges posed by two affected families. 61 25
19397670 2009
25
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
26
Turban tumour with involvement of the parotid gland. 25 61
10748863 1999
27
Familial cutaneous cylindromas: investigations in five generations of a family. 57
7622645 1995
28
Familial occurrence of malignant lymphoepithelial lesion of the parotid gland in a Finnish family with dominantly inherited trichoepithelioma. 57
3275484 1988
29
Familial clustering of salivary gland carcinoma in Greenland. 57
3955517 1986
30
[On the nosology of Spiegler-Brookes tumors]. 57
13709529 1961
31
A large family with CYLD cutaneous syndrome: medical genetics at the community level. 25
31792733 2020
32
Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission. 25
31085270 2019
33
A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation. 25
31082376 2019
34
Marie Unna hereditary hypotrichosis accompanied by multiple familial trichoepithelioma in a Chinese family. 25
30809827 2019
35
ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma. 25
31101826 2019
36
European guidelines for constitutional cytogenomic analysis. 25
30275486 2019
37
Tracking tumor kinetics in patients with germline CYLD mutations. 25
29660420 2018
38
Squamous Cell Carcinoma and Multiple Familial Trichoepitheliomas: A Recurrent Association. 25
29972217 2018
39
Inherited pulmonary cylindromas: extending the phenotype of CYLD mutation carriers. 25
29569226 2018
40
Targeting Tropomyosin Receptor Kinase in Cutaneous CYLD Defective Tumors With Pegcantratinib: The TRAC Randomized Clinical Trial. 25
29955768 2018
41
Frequent and differential mutations of the CYLD gene in basal cell salivary neoplasms: linkage to tumor development and progression. 25
29463883 2018
42
Milia: a useful clinical marker of CYLD mutation carrier status. 25
29023940 2018
43
Multiple Facial Trichoepitheliomas and Vulval Cysts: Extending the Phenotypic Spectrum in CYLD Cutaneous Syndrome. 25
28423152 2017
44
SPATA2-Mediated Binding of CYLD to HOIP Enables CYLD Recruitment to Signaling Complexes. 25
27545878 2016
45
Twelve Years' Observation of Multiple Familial Trichoepithelioma with Squamous Carcinoma. 25
27293274 2016
46
LUBAC-Recruited CYLD and A20 Regulate Gene Activation and Cell Death by Exerting Opposing Effects on Linear Ubiquitin in Signaling Complexes. 25
26670046 2015
47
Inherited cylindromas: lessons from a rare tumour. 25
26370355 2015
48
A mutational hotspot in CYLD causing cylindromas: a comparison of phenotypes arising in different genetic backgrounds. 25
23584127 2013
49
Skull invaders: when surgical pathology and neuropathology worlds collide. 25
23771219 2013
50
Whole exome sequencing of adenoid cystic carcinoma. 25
23778141 2013

Variations for Brooke-Spiegler Syndrome

ClinVar genetic disease variations for Brooke-Spiegler Syndrome:

6 (show top 50) (show all 389)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYLD NM_015247.2(CYLD):c.2291_2295del (p.Lys764fs) Deletion Pathogenic 267248 rs886040887 16:50826555-50826559 16:50792644-50792648
2 CYLD NM_015247.2(CYLD):c.2350+1G>T SNV Pathogenic 267251 rs886040890 16:50826617-50826617 16:50792706-50792706
3 CYLD NM_015247.2(CYLD):c.831_834del (p.Asp277fs) Deletion Pathogenic 267228 rs886040868 16:50788250-50788253 16:50754339-50754342
4 CYLD NM_015247.2(CYLD):c.1363C>T (p.Gln455Ter) SNV Pathogenic 267234 rs886040873 16:50813800-50813800 16:50779889-50779889
5 CYLD NM_015247.2(CYLD):c.987_988dup (p.Gly330fs) Duplication Pathogenic 267231 rs886040871 16:50810153-50810154 16:50776242-50776243
6 CYLD NM_015247.2(CYLD):c.1658_1661del (p.Asn553fs) Deletion Pathogenic 267237 rs886040876 16:50815294-50815297 16:50781383-50781386
7 CYLD NM_015247.2(CYLD):c.2515del (p.Ser839fs) Deletion Pathogenic 267254 rs886040893 16:50828168-50828168 16:50794257-50794257
8 CYLD NM_015247.2(CYLD):c.1771A>T (p.Lys591Ter) SNV Pathogenic 267240 rs886040879 16:50816322-50816322 16:50782411-50782411
9 CYLD NM_015247.2(CYLD):c.1950-2_1953del Deletion Pathogenic 267243 rs886040882 16:50820763-50820768 16:50786852-50786857
10 CYLD NM_015247.2(CYLD):c.1112C>A (p.Ser371Ter) SNV Pathogenic 267232 rs886040872 16:50811826-50811826 16:50777915-50777915
11 CYLD NM_015247.2(CYLD):c.2299A>T (p.Lys767Ter) SNV Pathogenic 267249 rs886040888 16:50826565-50826565 16:50792654-50792654
12 CYLD NM_015247.2(CYLD):c.911dup (p.Ala305fs) Duplication Pathogenic 267229 rs886040869 16:50788330-50788331 16:50754419-50754420
13 CYLD NM_015247.2(CYLD):c.2390_2391del (p.Met796_Tyr797insTer) Deletion Pathogenic 267252 rs886040891 16:50827495-50827496 16:50793584-50793585
14 CYLD NM_015247.2(CYLD):c.2569C>T (p.Gln857Ter) SNV Pathogenic 267255 rs886040894 16:50828222-50828222 16:50794311-50794311
15 CYLD NM_015247.2(CYLD):c.2272C>T (p.Arg758Ter) SNV Pathogenic 5253 rs121908388 16:50826538-50826538 16:50792627-50792627
16 CYLD CYLD, 4-BP DEL, 1950-1GATA Deletion Pathogenic 5262
17 CYLD NM_015247.2(CYLD):c.2469+1G>A SNV Pathogenic 5252 rs1597091470 16:50827576-50827576 16:50793665-50793665
18 CYLD NM_015247.2(CYLD):c.1826+2T>G SNV Pathogenic 5257 rs1597058708 16:50816379-50816379 16:50782468-50782468
19 CYLD NM_001042355.2(CYLD):c.2229_2230AG[1] (p.Glu744fs) Microsatellite Pathogenic 5256 rs1597085967 16:50825598-50825599 16:50791687-50791688
20 CYLD NM_015247.2(CYLD):c.561dup (p.Gln188fs) Duplication Pathogenic 5260 rs1596971597 16:50785566-50785567 16:50751655-50751656
21 CYLD NM_001378743.1(CYLD):c.2241+5G>A SNV Pathogenic 978671 16:50825606-50825606 16:50791695-50791695
22 CYLD NM_015247.2(CYLD):c.1327C>T (p.Gln443Ter) SNV Pathogenic 267233 rs764952788 16:50813764-50813764 16:50779853-50779853
23 CYLD NM_015247.2(CYLD):c.2406_2407del (p.Cys802_Tyr803delinsTer) Deletion Pathogenic 267253 rs886040892 16:50827512-50827513 16:50793601-50793602
24 CYLD NM_015247.2(CYLD):c.2252del (p.Cys751fs) Deletion Pathogenic 5254 rs1597088499 16:50826518-50826518 16:50792607-50792607
25 CYLD NM_015247.2(CYLD):c.2252del (p.Cys751fs) Deletion Pathogenic 5254 rs1597088499 16:50826518-50826518 16:50792607-50792607
26 CYLD CYLD, 1-BP DEL, 2172A Deletion Pathogenic 5255
27 CYLD NM_015247.2(CYLD):c.2240A>G (p.Glu747Gly) SNV Pathogenic 5258 rs121908389 16:50825600-50825600 16:50791689-50791689
28 CYLD NM_015247.2(CYLD):c.2240A>G (p.Glu747Gly) SNV Pathogenic 5258 rs121908389 16:50825600-50825600 16:50791689-50791689
29 CYLD NM_015247.2(CYLD):c.2806C>T (p.Arg936Ter) SNV Pathogenic 5259 rs121908390 16:50830354-50830354 16:50796443-50796443
30 CYLD NM_015247.2(CYLD):c.2806C>T (p.Arg936Ter) SNV Pathogenic 5259 rs121908390 16:50830354-50830354 16:50796443-50796443
31 CYLD NM_015247.2(CYLD):c.2806C>T (p.Arg936Ter) SNV Pathogenic 5259 rs121908390 16:50830354-50830354 16:50796443-50796443
32 CYLD NM_015247.2(CYLD):c.1392dup (p.Gly465fs) Duplication Pathogenic 5261 rs1597052041 16:50813828-50813829 16:50779917-50779918
33 CYLD NM_015247.2(CYLD):c.968_977del (p.Ser323fs) Deletion Pathogenic 267230 rs886040870 16:50810132-50810141 16:50776221-50776230
34 CYLD NM_015247.2(CYLD):c.1599dup (p.Val534fs) Duplication Pathogenic 267236 rs886040875 16:50815234-50815235 16:50781323-50781324
35 CYLD NM_015247.2(CYLD):c.2108G>A (p.Arg703Lys) SNV Pathogenic 267245 rs886040884 16:50821763-50821763 16:50787852-50787852
36 CYLD NM_015247.2(CYLD):c.2138_2139dup (p.Phe714fs) Duplication Pathogenic 267246 rs886040885 16:50825497-50825498 16:50791586-50791587
37 CYLD NM_015247.2(CYLD):c.1537dup (p.Cys513fs) Duplication Pathogenic 267235 rs886040874 16:50815174-50815175 16:50781263-50781264
38 CYLD NM_015247.2(CYLD):c.2242-2A>G SNV Pathogenic 267247 rs886040886 16:50826506-50826506 16:50792595-50792595
39 CYLD NM_015247.2(CYLD):c.1778G>A (p.Gly593Asp) SNV Uncertain significance 267241 rs886040880 16:50816329-50816329 16:50782418-50782418
40 CYLD NM_015247.2(CYLD):c.*5384A>G SNV Uncertain significance 319574 rs886052072 16:50835803-50835803 16:50801892-50801892
41 CYLD NM_015247.2(CYLD):c.*2121_*2122del Deletion Uncertain significance 319533 rs74757288 16:50832526-50832527 16:50798615-50798616
42 CYLD NM_015247.2(CYLD):c.*403T>C SNV Uncertain significance 319512 rs886052052 16:50830822-50830822 16:50796911-50796911
43 CYLD NM_015247.2(CYLD):c.*4841G>A SNV Uncertain significance 319568 rs886052071 16:50835260-50835260 16:50801349-50801349
44 CYLD NM_015247.2(CYLD):c.*3384G>A SNV Uncertain significance 319552 rs886052066 16:50833803-50833803 16:50799892-50799892
45 CYLD NM_015247.2(CYLD):c.*2438G>A SNV Uncertain significance 319539 rs886052061 16:50832857-50832857 16:50798946-50798946
46 CYLD NM_015247.2(CYLD):c.2145T>C (p.Tyr715=) SNV Uncertain significance 319506 rs200905032 16:50825505-50825505 16:50791594-50791594
47 CYLD NM_015247.2(CYLD):c.*1983T>C SNV Uncertain significance 319531 rs867027657 16:50832402-50832402 16:50798491-50798491
48 CYLD NM_015247.2(CYLD):c.*1727T>C SNV Uncertain significance 319527 rs886052056 16:50832146-50832146 16:50798235-50798235
49 CYLD NM_015247.2(CYLD):c.1166C>G (p.Thr389Arg) SNV Uncertain significance 319501 rs200759332 16:50813603-50813603 16:50779692-50779692
50 CYLD NM_015247.2(CYLD):c.*779G>A SNV Uncertain significance 319515 rs190787930 16:50831198-50831198 16:50797287-50797287

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

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 keratin filament GO:0045095 9.33 KRT8 KRT7 KRT14
2 cell periphery GO:0071944 9.13 KRT8 KRT19 KRT14
3 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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