MCID: CYL004
MIFTS: 32

Cylindromatosis, Familial malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Cancer diseases categories

Aliases & Classifications for Cylindromatosis, Familial

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Cylindromatosis, Familial:

Name: Cylindromatosis, Familial 49 11 45 23 47 67
Familial Cylindromatosis 45 22 23 51 24
Turban Tumor Syndrome 45 23 51 67
Ancell-Spiegler Cylindromas 23 65 67
Dermal Eccrine Cylindroma 45 23
 
Dermal Eccrine Cylindromatosis 67
Eccrine Dermal Cylindroma 65
Turban Tumors 45
Cyld 45
Fcyl 67


Classifications:



External Ids:

OMIM49 132700
Orphanet51 211
MESH via Orphanet37 C536611
UMLS via Orphanet66 C1704217, C1851526

Summaries for Cylindromatosis, Familial

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OMIM:49 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 adenoiditis and brooke-spiegler syndrome, and has symptoms including neoplasm of the skin, teleangiectasia of the skin and autosomal dominant inheritance. An important gene associated with Cylindromatosis, Familial is CYLD (Cylindromatosis (Turban Tumor Syndrome)). Affiliated tissues include skin and eye.

NIH Rare Diseases:45 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

Genetics Home Reference:23 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.

UniProtKB/Swiss-Prot:67 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:68 Cylindromatosis (turban tumor syndrome), also known as CYLD, is a human gene. more...

Related Diseases for Cylindromatosis, Familial

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Graphical network of the top 20 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:

 51
  • telangiectasiae of the skin
  • skin tumors/lumps/epidermal cysts
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • scalp cyst/giant nevus
  • autosomal dominant inheritance

HPO human phenotypes related to Cylindromatosis, Familial:

id Description Frequency HPO Source Accession
1 neoplasm of the skin hallmark (90%) HP:0008069
2 teleangiectasia of the skin hallmark (90%) HP:0100585
3 autosomal dominant inheritance HP:0000006
4 adult onset HP:0003581
5 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
1
imatinibapprovedPhase 1567152459-95-5644241, 5291
Synonyms:
112GI019
152459-95-5
1iep
1xbb
4-(4-METHYL-PIPERAZIN-1-YLMETHYL)-N-[4-METHYL-3-(4-PYRIDIN-3-YL-PYRIMIDIN-2-YLAMINO)-PHENYL]-BENZAMIDE
4-(4-METHYL-piperazin-1-ylmethyl)-N-[4-methyl-3-(4-pyridin-3-yl-pyrimidin-2-ylamino)-phenyl]-benzamide
4-[(4-Methyl-1-piperazinyl)methyl]-N-[4-methyl-3-[[4-(3-pyridinyl)-2-pyrimidinyl]amino]-phenyl]benzamide
4-[(4-methyl-1-piperazinyl)methyl]-N-[4-methyl-3-[[4-(3-pyridinyl)-2-pyrimidinyl]amino]phenyl]-benzamide methanesulfonate
4-[(4-methylpiperazin-1-yl)methyl]-N-(4-methyl-3-{[4-(pyridin-3-yl)pyrimidin-2-yl]amino}phenyl)benzamide
4-[(4-methylpiperazin-1-yl)methyl]-N-[4-methyl-3-[(4-pyridin-3-ylpyrimidin-2-yl)amino]phenyl]benzamide
4-[(4-methylpiperazin-1-yl)methyl]-N-{4-methyl-3-[(4-pyridin-3-ylpyrimidin-2-yl)amino]phenyl}benzamide
AC-524
AC1L1K0Z
AKOS000280662
BIDD:GT0047
BRD-K92723993-066-02-9
Benzamide, 4-[(4-methyl-1-piperazinyl)methyl]-N-[4-methyl-3-[[4-(3-pyridinyl)-2-pyrimidinyl]amino]phenyl]- (9CI)
CCRIS 9076
CGP 57148B
CGP57148
CGP57148B
CHEBI:45783
CHEMBL941
CID5291
Cgp 57148
D08066
DB00619
DB03261
EN002706
FT-0083542
Glamox
Glamox (TN)
 
Gleevec
Glivec
HMS2089D03
I01-1232
Imatinib
Imatinib (INN)
Imatinib Mesylate
Imatinib Methansulfonate
Imatinib [INN:BAN]
Imatinib free base
Imatinibum
Kinome_3724
LS-182208
LS-187106
MolPort-000-883-342
N-(3-(4-(pyridin-3-yl)pyrimidin-2-ylamino)-4-methylphenyl)-4-((4-methylpiperazin-1-yl)methyl)benzamide
NCGC00159456-02
NCGC00159456-03
NCGC00159456-04
NSC743414
STI
STI 571
STI-571
STI571
STK617705
UNII-BKJ8M8G5HI
alpha-(4-Methyl-1-piperazinyl)-3'-((4-(3-pyridyl)-2-pyrimidinyl)amino)-P-toluidide
alpha-(4-Methyl-1-piperazinyl)-3'-((4-(3-pyridyl)-2-pyrimidinyl)amino)-p-tolu-p-toluidide
imatinib
nchembio.117-comp23
nchembio.162-comp5
nchembio.282-comp6
nchembio.83-comp14
sti-571
2
Cyclophosphamideapproved, investigationalPhase 1252550-18-0, 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
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

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 Familial Cylindromatosis22 CYLD
2 Cylindromatosis, Familial24

Anatomical Context for Cylindromatosis, Familial

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MalaCards organs/tissues related to Cylindromatosis, Familial:

33
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
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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet