MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
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Hamartoma Syndrome, Multiple (D006223)
Parent Node:
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Mitochondrial Diseases (D028361)
..Starting node
..expand
Cowden-Like Syndrome (C567337)

       Child Nodes:



 Sister Nodes: 
..expand3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)  LSDB  L: 00105;
..expandAcyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)  LSDB  L: 00419;
..expandAtaxia and Polyneuropathy, Adult-Onset (C564020)
..expandAtaxia Neuropathy Spectrum (C579922)
..expandBjornstad syndrome (C537633)  LSDB  L: 00084;
..expandCarbamoyl-Phosphate Synthase I Deficiency Disease (D020165)  LSDB  L: 00085;
..expandCarnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)  LSDB  L: 00486;
..expandCarnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463)  LSDB  L: 00487;
..expandChildhood Myocerebrohepatopathy Spectrum (C579990)
..expandCoenzyme Q10 Deficiency (C564403)  LSDB  L: 00090;
..expandCombined Oxidative Phosphorylation Deficiency 4 (C565690)  LSDB  L: 00098;
..expandCombined Oxidative Phosphorylation Deficiency 5 (C567126)  LSDB  L: 00099;
..expandCowden-Like Syndrome (C567337)
..expandCytochrome-c Oxidase Deficiency (D030401) Child2  LSDB C:2 L: 00012;
..expandDeoxyguanosine Kinase Deficiency (C580039)
..expandFinnish lethal neonatal metabolic syndrome (C537934)  LSDB  L: 00104;
..expandFriedreich Ataxia (D005621) Child6  LSDB C:1
..expandHypermetabolism due to Defect in Mitochondria (C565498)  LSDB  L: 00406;
..expandHypomyelination, Global Cerebral (C567847)  LSDB  L: 00107;
..expandHypotonia-Cystinuria Syndrome (C564710)  LSDB  L: 00416;
..expandKearns-Sayre Syndrome (D007625) Child1  LSDB  L: 00143;
..expandLeigh Disease (D007888) Child12  LSDB C:3 L: 00015;
..expandLeukodystrophy, Hypomyelinating, 4 (C567390)  LSDB  L: 00421;
..expandLeukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)  LSDB  L: 00418;
..expandMedium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..expandMitochondrial complex I deficiency (C537475)  LSDB  L: 00011;
..expandMitochondrial Complex II Deficiency (C565375)  LSDB  L: 00016;
..expandMitochondrial Complex III Deficiency (C565128)  LSDB  L: 00017;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE (OMIM:604273)  LSDB  L: 00023;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)  LSDB  L: 00031;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)  LSDB  L: 00032;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)  LSDB  L: 00035;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)  LSDB  L: 00038;
..expandMitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..expandMitochondrial Myopathies (D017240) Child33  LSDB C:22 L: 00400;
..expandMitochondrial Phosphate Carrier Deficiency (C563665)  LSDB  L: 00040;
..expandMultiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) Child1  LSDB  L: 00439;
..expandMultiple Mitochondrial Dysfunctions Syndrome (C565304)  LSDB  L: 00043;
..expandMULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)  LSDB  L: 00043;
..expandMyopathy with Giant Abnormal Mitochondria (C564971)  LSDB  L: 00409;
..expandMyopathy, Cataract, Hypogonadism Syndrome (C563578)
..expandNavajo neurohepatopathy (C538344) Child1  LSDB C:1
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)  LSDB  L: 00410;
..expandOptic Atrophy, Autosomal Dominant (D029241)  LSDB  L: 00073;
..expandOptic Atrophy, Hereditary, Leber (D029242) Child1  LSDB  L: 00072; 00492;
..expandParkinson Disease, Mitochondrial (C564015)
..expandPhosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)  LSDB  L: 00046;
..expandProgressive External Ophthalmoplegia With Hypogonadism (C563576)
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)  LSDB  L: 00117;
..expandProgressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768)  LSDB  L: 00049;
..expandProximal Myopathy with Focal Depletion of Mitochondria (C563453)  LSDB  L: 00412;
..expandPyruvate Carboxylase Deficiency Disease (D015324) Child1  LSDB  L: 00398;
..expandPyruvate Dehydrogenase Complex Deficiency Disease (D015325) Child4  LSDB C:3 L: 00442;
..expandSarcosinemia (C537236)
..expandSpinocerebellar Ataxia with Epilepsy (C564395)
..expandSuccinate-Coa Ligase Deficiency (C580473)
..expandVDAC Deficiency (C565767)
..expandVLCAD deficiency (C536353)  LSDB  L: 00436;
..expandWolfram Syndrome 2 (C565733)  LSDB  L: 00490;
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:2794
Name:Cowden-Like Syndrome
Definition:
Alternative IDs:OMIM:612359
ParentIDs:MESH:D006223|MESH:D028361
TreeNumbers:C04.445.435/C567337 |C04.651.435/C567337 |C04.700.435/C567337 |C16.320.700.435/C567337 |C18.452.660/C567337
Synonyms:COWDEN SYNDROME 2 |CWS2
Slim Mappings:Cancer|Genetic disease (inborn)|Metabolic disease
Reference: MedGen: C567337
MeSH: C567337
OMIM: 612359;
MSeqDR LSDB:  
Genes: SDHB;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003002Breast carcinoma
3 HP:0012114Endometrial carcinoma
4 HP:0002895Papillary thyroid carcinoma
5 HP:0000131Uterine leiomyoma
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_003000.2(SDHB):c.487T>C (p.Ser163Pro)6390SDHBBenign;Pathogenic;Uncertain significance33927012RCV000013633; RCV000202946; RCV000030622; RCV000034688; RCV000122002; RCV000132153; RCV000206861; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0031511,OMIM:171300; MedGen:C0238198,OMIM:606764,ORPHA:44890; MedGen:C1708353, Orphanet:ORPHA29072; MedGen:C1861848,OMIM:115310; MedGen:C3552552,OMIM:612359; MedGen:CN169374; MedGen:CN22180911735429717354297NM_003000.2:c.487T>CNP_002991.2:p.Ser163ProNC_000001.10:g.17354297A>GOMIM Allelic Variant:185470.0015C3552552 612359 Cowden syndrome 2; C0238198 606764 Gastrointestinal stromal tumor; C0027672 Hereditary cancer-predisposing syndrome; C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes; CN221809 not provided; CN169374 not specified; C1861848
NM_003000.2(SDHB):c.170A>G (p.His57Arg)6390SDHBLikely benign35962811RCV000148867; RCV000183210; RCV000122000; RCV000129655; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C3552552,OMIM:612359; MedGen:CN169374; MedGen:CN22180911737128617371286NM_003000.2:c.170A>GNP_002991.2:p.His57ArgNC_000001.10:g.17371286T>C-C3552552 612359 Cowden syndrome 2; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified
NM_003000.2(SDHB):c.8C>G (p.Ala3Gly)6390SDHBBenign;Pathogenic;Uncertain significance11203289RCV000013632; RCV000034690; RCV000121999; RCV000128921; RCV000204871; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0031511,OMIM:171300; MedGen:C0238198,OMIM:606764,ORPHA:44890; MedGen:C1861848,OMIM:115310; MedGen:C3552552,OMIM:612359; MedGen:CN169374; MedGen:CN22180911738050717380507NM_003000.2:c.8C>GNP_002991.2:p.Ala3GlyNC_000001.10:g.17380507G>COMIM Allelic Variant:185470.0014C3552552 612359 Cowden syndrome 2; C0238198 606764 Gastrointestinal stromal tumor; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified; C1861848 115310 Paragangliomas 4; C0031511 171300 Pheochromocytoma
MSeqDR Portal