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Parent Node:
expandDiseases (C)
Parent Node:
expandMelanoma, Cutaneous Malignant (C562393)
Parent Node:
expandSkin Neoplasms (D012878)
..Starting node
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 (OMIM:614456)

       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:6921
Name:MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
Definition:
Alternative IDs:
ParentIDs:MESH:C562393|MESH:D012878
TreeNumbers:C04.557.465.625.650.510/C562393/614456 |C04.557.580.625.650.510/C562393/614456 |C04.557.665.510/C562393/614456 |C04.588.805/614456 |C17.800.882/614456
Synonyms:CMM8 |MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO
Slim Mappings:Cancer|Skin disease
Reference: MedGen: 614456
MeSH: 614456
OMIM: 614456;

Genes: MITF;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0012056Cutaneous melanoma
3 HP:0005584Renal cell carcinoma
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_000248.3(MITF):c.952G>A (p.Glu318Lys)4286MITFPathogenic;Uncertain significance;risk factor149617956RCV000022661; RCV000222278; RCV000129682; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C3152204,OMIM:614456,ORPHA:293822; MedGen:CN16937437001409170014091NM_000248.3:c.952G>ANP_000239.1:p.Glu318LysNC_000003.11:g.70014091G>AOMIM Allelic Variant:156845.0009C3152204 614456 Cutaneous malignant melanoma 8; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000372.4(TYR):c.1205G>A (p.Arg402Gln)7299TYRBenign;Pathogenic;association;risk factor1126809RCV000003978; RCV000003981; RCV000003980; RCV000003982; RCV000023596; RCV000085910; RCV000003979; NMedGen:C1847024,OMIM:606952,ORPHA:79434; MedGen:C1847132; MedGen:C2677190,OMIM:601800; MedGen:C3149134; MedGen:C3149136; MedGen:C3152204,OMIM:614456,ORPHA:293822; MedGen:CN221809118901796189017961NM_000372.4:c.1205G>ANP_000363.1:p.Arg402GlnNC_000011.9:g.89017961G>AOMIM Allelic Variant:606933.0009C3152204 614456 Cutaneous malignant melanoma 8; CN221809 not provided; C1847132 Oculocutaneous albinism type 1, temperature sensitive; C1847024 606952 Oculocutaneous albinism type 1B; C3149136 Skin/hair/eye pigmentation 3, blue/green eyes; C2677190 60