MCID: CYL004
MIFTS: 29

Cylindromatosis, Familial malady

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

Aliases & Classifications for Cylindromatosis, Familial

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Sources:
12diseasecard, 24GeneTests, 25Genetics Home Reference, 26GTR, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Cylindromatosis, Familial:

Name: Cylindromatosis, Familial 51 47 25 69 12 49
Familial Cylindromatosis 47 24 25 53 26
Turban Tumor Syndrome 47 25 53 69
Ancell-Spiegler Cylindromas 25 69 67
Dermal Eccrine Cylindroma 47 25
 
Dermal Eccrine Cylindromatosis 69
Eccrine Dermal Cylindroma 67
Turban Tumors 47
Fcyl 69
Cyld 47

Characteristics:

Orphanet epidemiological data:

53
familial cylindromatosis:
Inheritance: Autosomal dominant

HPO:

63
cylindromatosis, familial:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset

Classifications:



External Ids:

OMIM51 132700
Orphanet53 ORPHA211
MESH via Orphanet39 C536611
UMLS via Orphanet68 C1704217, C1851526

Summaries for Cylindromatosis, Familial

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OMIM:51 The disorders classically referred to as familial cylindromatosis, Brooke-Spiegler syndrome, and multiple familial... (132700) more...

MalaCards based summary: Cylindromatosis, Familial, also known as familial cylindromatosis, is related to brooke-spiegler syndrome and adenoiditis, and has symptoms including neoplasm of the skin, telangiectasia of the skin and neoplasm of the skin. An important gene associated with Cylindromatosis, Familial is CYLD (CYLD Lysine 63 Deubiquitinase). Affiliated tissues include skin and eye.

Genetics Home Reference:25 Familial cylindromatosis is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as hair follicles and sweat glands. People with familial cylindromatosis typically develop large numbers of tumors called cylindromas. While previously thought to derive from sweat glands, cylindromas are now generally believed to begin in hair follicles.

NIH Rare Diseases:47 Cylindromas are non-cancerous (benign) tumors that develop from the skin. They most commonly occur on the head and neck and rarely become cancerous (malignant).  An individual can develop one or many cylindromas; if a person develops only one, the cylindroma likely occurred by chance and typically is not inherited. They usually begin to form during mid-adulthood as a slow-growing, rubbery nodule that causes no symptoms. The development of multiple cylindromas can be hereditary and is inherited in an autosomal dominant manner; this condition is called familial cylindromatosis.  Individuals with the inherited form begin to develop many, rounded nodules of various size shortly after puberty. The tumors grow very slowly and increase in number over time. Last updated: 2/18/2015

UniProtKB/Swiss-Prot:69 Cylindromatosis, familial: A disorder characterized by multiple skin tumors that develop from skin appendages, such as hair follicles and sweat glands. Affected individuals typically develop large numbers of tumors called cylindromas that arise predominantly in hairy parts of the body with approximately 90% on the head and neck. In severely affected individuals, cylindromas may combine into a confluent mass which may ulcerate or become infected (turban tumor syndrome). Individuals with familial cylindromatosis occasionally develop other types of tumors including spiradenomas that begin in sweat glands, and trichoepitheliomas arising from hair follicles.

Wikipedia:70 Cylindromatosis (turban tumor syndrome), also known as CYLD, is a human gene. more...

Related Diseases for Cylindromatosis, Familial

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Diseases related to Cylindromatosis, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1brooke-spiegler syndrome11.5
2adenoiditis10.1
3spiradenoma10.0
4hidradenocarcinoma9.8

Symptoms for Cylindromatosis, Familial

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Symptoms by clinical synopsis from OMIM:

132700

Clinical features from OMIM:

132700

Human phenotypes related to Cylindromatosis, Familial:

 63 53
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neoplasm of the skin63 hallmark (90%) HP:0008069
2 telangiectasia of the skin63 hallmark (90%) HP:0100585
3 subcutaneous nodule53 Very frequent (99-80%)
4 teleangiectasia of the skin53 Very frequent (99-80%)

Drugs & Therapeutics for Cylindromatosis, Familial

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Drugs for Cylindromatosis, Familial (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cyclophosphamideapproved, investigationalPhase 1282950-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Anhydrous cyclophosphamide
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
 
DB00531
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
2Immunosuppressive AgentsPhase 112770
3Protein Kinase InhibitorsPhase 13612
4Imatinib MesylatePhase 1594123596
5Alkylating AgentsPhase 14694
6Antirheumatic AgentsPhase 110627
7Antineoplastic Agents, AlkylatingPhase 14474

Interventional clinical trials:

idNameStatusNCT IDPhase
1Imatinib Mesylate And Cyclophosphamide In Metronomic Administration: Dose Escalation Study Of Imatinib MesylateCompletedNCT01046487Phase 1

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Genetic Tests for Cylindromatosis, Familial

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Genetic tests related to Cylindromatosis, Familial:

id Genetic test Affiliating Genes
1 Cylindromatosis, Familial26
2 Familial Cylindromatosis24 CYLD

Anatomical Context for Cylindromatosis, Familial

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MalaCards organs/tissues related to Cylindromatosis, Familial:

35
Skin, Eye

Animal Models for Cylindromatosis, Familial or affiliated genes

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Publications for Cylindromatosis, Familial

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Articles related to Cylindromatosis, Familial:

idTitleAuthorsYear
1
A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16. (10480375)
1999

Variations for Cylindromatosis, Familial

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Clinvar genetic disease variations for Cylindromatosis, Familial:

5 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1CYLDNM_015247.2(CYLD): c.831_834delTGGA (p.Asp277Glufs)deletionPathogenicrs886040868GRCh38Chr 16, 50754342: 50754345
2CYLDNM_015247.2(CYLD): c.911dupC (p.Ala305Serfs)duplicationPathogenicrs886040869GRCh38Chr 16, 50754422: 50754422
3CYLDNM_015247.2(CYLD): c.987_988dupAG (p.Gly330Glufs)duplicationPathogenicrs886040871GRCh38Chr 16, 50776243: 50776244
4CYLDNM_015247.2(CYLD): c.1112C> A (p.Ser371Ter)SNVPathogenicrs886040872GRCh38Chr 16, 50777915: 50777915
5CYLDNM_015247.2(CYLD): c.1327C> T (p.Gln443Ter)SNVPathogenicrs764952788GRCh38Chr 16, 50779853: 50779853
6CYLDNM_015247.2(CYLD): c.1363C> T (p.Gln455Ter)SNVPathogenicrs886040873GRCh38Chr 16, 50779889: 50779889
7CYLDNM_015247.2(CYLD): c.1658_1661delATCA (p.Asn553Argfs)deletionPathogenicrs886040876GRCh38Chr 16, 50781385: 50781388
8CYLDNM_015247.2(CYLD): c.1771A> T (p.Lys591Ter)SNVPathogenicrs886040879GRCh38Chr 16, 50782411: 50782411
9CYLDNM_015247.2(CYLD): c.1950-2_1953delAGATATdeletionPathogenicrs886040882GRCh38Chr 16, 50786853: 50786858
10CYLDNM_015247.2(CYLD): c.2242-2A> GSNVPathogenicrs886040886GRCh38Chr 16, 50792595: 50792595
11CYLDNM_015247.2(CYLD): c.2291_2295delAACTA (p.Lys764Ilefs)deletionPathogenicrs886040887GRCh38Chr 16, 50792646: 50792650
12CYLDNM_015247.2(CYLD): c.2299A> T (p.Lys767Ter)SNVPathogenicrs886040888GRCh38Chr 16, 50792654: 50792654
13CYLDNM_015247.2(CYLD): c.2350+1G> TSNVPathogenicrs886040890GRCh38Chr 16, 50792706: 50792706
14CYLDNM_015247.2(CYLD): c.2390_2391delAT (p.Tyr797Terfs)deletionPathogenicrs886040891GRCh38Chr 16, 50793585: 50793586
15CYLDNM_015247.2(CYLD): c.2406_2407delCT (p.Cys802Terfs)deletionPathogenicrs886040892GRCh38Chr 16, 50793601: 50793602
16CYLDNM_015247.2(CYLD): c.2515delT (p.Ser839Hisfs)deletionPathogenicrs886040893GRCh38Chr 16, 50794257: 50794257
17CYLDNM_015247.2(CYLD): c.2569C> T (p.Gln857Ter)SNVPathogenicrs886040894GRCh38Chr 16, 50794311: 50794311
18CYLDCYLD, NT2469, G-A, +1SNVPathogenicChr na, -1: -1
19CYLDNM_015247.2(CYLD): c.2272C> T (p.Arg758Ter)SNVPathogenicrs121908388GRCh37Chr 16, 50826538: 50826538
20CYLDCYLD, 1-BP DEL, 2253GdeletionPathogenicChr na, -1: -1
21CYLDNM_015247.2(CYLD): c.2806C> T (p.Arg936Ter)SNVPathogenicrs121908390GRCh37Chr 16, 50830354: 50830354
22CYLDCYLD, 1-BP DUP, 561TduplicationPathogenicChr na, -1: -1
23CYLDCYLD, 4-BP DEL, 1950-1GATAdeletionPathogenicChr na, -1: -1

Expression for genes affiliated with Cylindromatosis, Familial

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Search GEO for disease gene expression data for Cylindromatosis, Familial.

Pathways for genes affiliated with Cylindromatosis, Familial

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GO Terms for genes affiliated with Cylindromatosis, Familial

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Sources for Cylindromatosis, Familial

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet