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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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: Hamartoma Syndrome, Multiple (D006223)
Parent Node: Mitochondrial Diseases (D028361)
..Starting node ..Cowden-Like Syndrome (C567337)
Child Nodes:
Sister Nodes:
..3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)
..Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)
..Ataxia and Polyneuropathy, Adult-Onset (C564020)
..Ataxia Neuropathy Spectrum (C579922)
..Bjornstad syndrome (C537633)
..Carbamoyl-Phosphate Synthase I Deficiency Disease (D020165)
..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)
..Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463)
..Childhood Myocerebrohepatopathy Spectrum (C579990)
..Coenzyme Q10 Deficiency (C564403)
..Combined Oxidative Phosphorylation Deficiency 4 (C565690)
..Combined Oxidative Phosphorylation Deficiency 5 (C567126)
..Cowden-Like Syndrome (C567337)
..Cytochrome-c Oxidase Deficiency (D030401) 2
..Deoxyguanosine Kinase Deficiency (C580039)
..Finnish lethal neonatal metabolic syndrome (C537934)
..Friedreich Ataxia (D005621) 6
..Hypermetabolism due to Defect in Mitochondria (C565498)
..Hypomyelination, Global Cerebral (C567847)
..Hypotonia-Cystinuria Syndrome (C564710)
..Kearns-Sayre Syndrome (D007625) 1
..Leigh Disease (D007888) 12
..Leukodystrophy, Hypomyelinating, 4 (C567390)
..Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)
..Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..Mitochondrial complex I deficiency (C537475)
..Mitochondrial Complex II Deficiency (C565375)
..Mitochondrial Complex III Deficiency (C565128)
..MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE (OMIM:604273)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
..Mitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..Mitochondrial Myopathies (D017240) 33
..Mitochondrial Phosphate Carrier Deficiency (C563665)
..Multiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) 1
..Multiple Mitochondrial Dysfunctions Syndrome (C565304)
..MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
..Myopathy with Giant Abnormal Mitochondria (C564971)
..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
..Navajo neurohepatopathy (C538344) 1
..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..Optic Atrophy, Autosomal Dominant (D029241)
..Optic Atrophy, Hereditary, Leber (D029242) 1
..Parkinson Disease, Mitochondrial (C564015)
..Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)
..Progressive External Ophthalmoplegia With Hypogonadism (C563576)
..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)
..Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768)
..Proximal Myopathy with Focal Depletion of Mitochondria (C563453)
..Pyruvate Carboxylase Deficiency Disease (D015324) 1
..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4
..Sarcosinemia (C537236)
..Spinocerebellar Ataxia with Epilepsy (C564395)
..Succinate-Coa Ligase Deficiency (C580473)
..VDAC Deficiency (C565767)
..VLCAD deficiency (C536353)
..Wolfram Syndrome 2 (C565733)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, 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;

Genes: SDHB;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003002	Breast carcinoma
3	HP:0012114	Endometrial carcinoma
4	HP:0002895	Papillary thyroid carcinoma
5	HP:0000131	Uterine leiomyoma

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_003000.2(SDHB):c.487T>C (p.Ser163Pro)	6390	SDHB	Benign;Pathogenic;Uncertain significance	33927012	RCV000013633; RCV000202946; RCV000030622; RCV000034688; RCV000122002; RCV000132153; RCV000206861;	N	MedGen: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:CN221809	1	17354297	17354297	NM_003000.2:c.487T>C	NP_002991.2:p.Ser163Pro	NC_000001.10:g.17354297A>G	OMIM Allelic Variant:185470.0015	C3552552 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)	6390	SDHB	Likely benign	35962811	RCV000148867; RCV000183210; RCV000122000; RCV000129655;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C3552552,OMIM:612359; MedGen:CN169374; MedGen:CN221809	1	17371286	17371286	NM_003000.2:c.170A>G	NP_002991.2:p.His57Arg	NC_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)	6390	SDHB	Benign;Pathogenic;Uncertain significance	11203289	RCV000013632; RCV000034690; RCV000121999; RCV000128921; RCV000204871;	N	MedGen: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:CN221809	1	17380507	17380507	NM_003000.2:c.8C>G	NP_002991.2:p.Ala3Gly	NC_000001.10:g.17380507G>C	OMIM Allelic Variant:185470.0014	C3552552 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