Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandNeoplastic Syndromes, Hereditary (D009386)
Parent Node:
expandSkin Neoplasms (D012878)
..Starting node
..expandFamilial cylindromatosis (C536611)

       Child Nodes:



 Sister Nodes: 
..expandAbdominal chemodectomas with cutaneous angiolipomas (C535552)
..expandAcanthoma (D049309)
..expandBazex-Dupre-Christol syndrome (C537663)
..expandBecker Nevus Syndrome (C565735)
..expandBlue rubber bleb nevus syndrome (C536240)
..expandCalcifying Epithelial Odontogenic Tumor (C537961)
..expandCardiomyopathy hypogonadism collagenoma syndrome (C535582)
..expandCollagenoma, Familial Cutaneous (C562925)
..expandDavenport Donlan syndrome (C535988)
..expandDermatopathia pigmentosa reticularis (C535374)
..expandFamilial cylindromatosis (C536611)
..expandFamilial multiple trichodiscomas (C536847)
..expandFanconi like syndrome (C536855)
..expandGiant pigmented hairy nevus (C536819)
..expandHamartoma, Precalcaneal Congenital Fibrolipomatous (C565226)
..expandHistiocytosis, Progressive Mucinous (C564186)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 (OMIM:155601)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 (OMIM:609048)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4 (OMIM:608035)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 (OMIM:613099)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7 (OMIM:612263)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 (OMIM:614456)
..expandNevus, Epidermal (C562736)
..expandPALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
..expandPalmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal (C565693)
..expandPapillomatosis, Familial Cutaneous (C566832)
..expandPhacomatosis pigmentokeratotica (C537893)
..expandReactive angioendotheliomatosis (C535293)
..expandReed's syndrome (C535516)
..expandRombo syndrome (C535870)
..expandSchwannomatosis (C536641)
..expandSclerotylosis (C537526)
..expandSebaceous Gland Neoplasms (D012626) Child2
..expandSweat Gland Neoplasms (D013544)
..expandTrichoepithelioma, Multiple Familial, 2 (C567418)
..expandTrichoepitheliomas, Multiple Desmoplastic (C566034)
..expandTrichofolliculoma (C536553)
..expandTufted angioma (C536924)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:4129
Name:Familial cylindromatosis
Definition:
Alternative IDs:OMIM:132700|OMIM:605041
ParentIDs:MESH:D009386|MESH:D012878
TreeNumbers:C04.588.805/C536611 |C04.700/C536611 |C16.320.700/C536611 |C17.800.882/C536611
Synonyms:Ancell-Spiegler cylindromas |Brooke-Spiegler syndrome |BRSS |BSS |Cylindromas, Dermal Eccrine |Cylindromatosis, familial |Dermal Eccrine Cylindroma |Familial Trichoepithelioma |SBS |Spiegler-Brooke syndrome |Turban tumors |Turban tumor syndrome |'Turban Tumor' Syndr
Slim Mappings:Cancer|Genetic disease (inborn)|Skin disease
Reference: MedGen: C536611
MeSH: C536611
OMIM: 132700;

Genes: AF8T; CYLD;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003581Adult onset
3 HP:0008069Neoplasm of the skin
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_015247.2(CYLD):c.2272C>T (p.Arg758Ter)1540CYLDPathogenic121908388RCV000005565; RCV000120624; NMedGen:C1851526,OMIM:132700; MedGen:CN169374165082653850826538NM_015247.2:c.2272C>TNP_056062.1:p.Arg758TerNC_000016.9:g.50826538C>TOMIM Allelic Variant:605018.0002C1851526 132700 Cylindromatosis, familial; CN169374 not specified
NM_015247.2(CYLD):c.2806C>T (p.Arg936Ter)1540CYLDPathogenic121908390RCV000005573; RCV000005575; RCV000005574; NMedGen:C1275122,OMIM:601606,ORPHA:867,SNOMED CT:403825008; MedGen:C1851526,OMIM:132700; MedGen:C1857941,OMIM:605041,ORPHA:79493165083035450830354NM_015247.2:c.2806C>TNP_056062.1:p.Arg936TerNC_000016.9:g.50830354C>TOMIM Allelic Variant:605018.0008C1851526 132700 Cylindromatosis, familial; C1275122 601606 Familial multiple trichoepitheliomata; C1857941 605041 Spiegler-Brooke syndrome