MCID: CYL004
MIFTS: 31

Cylindromatosis, Familial malady

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

Aliases & Classifications for Cylindromatosis, Familial

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Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Cylindromatosis, Familial:

Name: Cylindromatosis, Familial 50 46 24 68 12 48
Familial Cylindromatosis 46 23 24 52 25
Turban Tumor Syndrome 46 24 52 68
Ancell-Spiegler Cylindromas 24 68 66
Dermal Eccrine Cylindroma 46 24
 
Dermal Eccrine Cylindromatosis 68
Eccrine Dermal Cylindroma 66
Turban Tumors 46
Fcyl 68
Cyld 46

Characteristics:

Orphanet epidemiological data:

52
familial cylindromatosis:
Inheritance: Autosomal dominant

HPO:

62
cylindromatosis, familial:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset


Classifications:



External Ids:

OMIM50 132700
Orphanet52 ORPHA211
MESH via Orphanet38 C536611
UMLS via Orphanet67 C1704217, C1851526

Summaries for Cylindromatosis, Familial

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OMIM:50 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, salivary gland and eye.

NIH Rare Diseases:46 Familial cylindromatosis is a condition that causes multiple  non-cancerous ( benign )  tumors called cylindromas to develop from the skin on  the head and neck.  these tumors rarely become cancerous (malignant ).  many, rounded nodules of various size begin to develop shortly after puberty. they tend to grow very slowly and increase in number over time, and may be significantly affect appearance or cause vision difficulties.  individuals with this condition also have an increased chance to develop other skin tumors and tumors in the salivary gland.   familial cylindromatosis is  inherited  in an autosomal dominant manner and is associated with mutations in the cyld gene. last updated: 2/18/2015

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 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.

Wikipedia:69 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 syndrome10.7
2adenoiditis10.3
3childhood type dermatomyositis10.2
4multiple familial trichoepithelioma10.2
5spiradenoma10.1
6trichoepithelioma, multiple familial, 110.0
7hidradenocarcinoma9.9
8tuberous sclerosis9.9

Graphical network of diseases related to Cylindromatosis, Familial:



Diseases related to cylindromatosis, familial

Symptoms for Cylindromatosis, Familial

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Symptoms by clinical synopsis from OMIM:

132700

Clinical features from OMIM:

132700

Symptoms:

 52
  • subcutaneous nodule
  • teleangiectasia of the skin

HPO human phenotypes related to Cylindromatosis, Familial:

id Description Frequency HPO Source Accession
1 neoplasm of the skin hallmark (90%) HP:0008069
2 telangiectasia of the skin hallmark (90%) HP:0100585
3 neoplasm of the skin HP:0008069

Drugs & Therapeutics for Cylindromatosis, Familial

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Imatinib MesylatePhase 1588123596
2
CyclophosphamidePhase 1275650-18-0, 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
3Alkylating AgentsPhase 14573

Interventional clinical trials:

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

Search NIH Clinical Center for Cylindromatosis, Familial

Genetic Tests for Cylindromatosis, Familial

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Genetic tests related to Cylindromatosis, Familial:

id Genetic test Affiliating Genes
1 Cylindromatosis, Familial25
2 Familial Cylindromatosis23 CYLD

Anatomical Context for Cylindromatosis, Familial

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MalaCards organs/tissues related to Cylindromatosis, Familial:

34
Skin, Salivary gland, 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
id Gene Variation Type Significance SNP ID Assembly Location
1CYLDCYLD, NT2469, G-A, +1single nucleotide variantPathogenic
2CYLDNM_015247.2(CYLD): c.2272C> T (p.Arg758Ter)single nucleotide variantPathogenicrs121908388GRCh37Chr 16, 50826538: 50826538
3CYLDCYLD, 1-BP DEL, 2253GdeletionPathogenic
4CYLDNM_015247.2(CYLD): c.2806C> T (p.Arg936Ter)single nucleotide variantPathogenicrs121908390GRCh37Chr 16, 50830354: 50830354
5CYLDCYLD, 1-BP DUP, 561TduplicationPathogenic
6CYLDCYLD, 4-BP DEL, 1950-1GATAdeletionPathogenic

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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet