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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Hypoglycemia (D007003)
Parent Node: Metabolism, Inborn Errors (D008661)
Parent Node: Mitochondrial Diseases (D028361)
..Starting node ..3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)
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:

Name:

3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency

Definition:

Alternative IDs:

OMIM:605911

ParentIDs:

MESH:D007003|MESH:D008661|MESH:D028361

TreeNumbers:

C16.320.565/C567784 |C18.452.394.984/C567784 |C18.452.648/C567784 |C18.452.660/C567784

Synonyms:

HMGCS2 Deficiency |Mitochondrial HMG-CoA Synthase Deficiency

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C567784
MeSH: C567784
OMIM: 605911;

Genes: HMGCS2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002014	Diarrhea
3	HP:0002240	Hepatomegaly
4	HP:0002013	Vomiting

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_001166107.1(HMGCS2):c.1373G>A (p.Arg458His)	3158	HMGCS2	Pathogenic	137852639	RCV000009842;	N	MedGen:C2751532,OMIM:605911,ORPHA:35701	1	120293453	120293453	NM_001166107.1:c.1373G>A	NP_001159579.1:p.Arg458His	NC_000001.10:g.120293453C>T	OMIM Allelic Variant:600234.0004	C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
NM_001166107.1(HMGCS2):c.1144C>T (p.Arg382Ter)	3158	HMGCS2	Pathogenic	137852637	RCV000009840;	N	MedGen:C2751532,OMIM:605911,ORPHA:35701	1	120295927	120295927	NM_001166107.1:c.1144C>T	NP_001159579.1:p.Arg382Ter	NC_000001.10:g.120295927G>A	OMIM Allelic Variant:600234.0002	C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
NM_005518.3(HMGCS2):c.634G>A (p.Gly212Arg)	3158	HMGCS2	Pathogenic	137852638	RCV000009841;	N	MedGen:C2751532,OMIM:605911,ORPHA:35701	1	120302538	120302538	NM_005518.3:c.634G>A	NP_005509.1:p.Gly212Arg	NC_000001.10:g.120302538C>T	OMIM Allelic Variant:600234.0003	C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
NM_001166107.1(HMGCS2):c.520T>C (p.Phe174Leu)	3158	HMGCS2	Pathogenic	137852636	RCV000009839;	N	MedGen:C2751532,OMIM:605911,ORPHA:35701	1	120306834	120306834	NM_001166107.1:c.520T>C	NP_001159579.1:p.Phe174Leu	NC_000001.10:g.120306834A>G	OMIM Allelic Variant:600234.0001	C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
NM_001166107.1(HMGCS2):c.500A>G (p.Tyr167Cys)	3158	HMGCS2	Pathogenic	137852640	RCV000009844;	N	MedGen:C2751532,OMIM:605911,ORPHA:35701	1	120306854	120306854	NM_001166107.1:c.500A>G	NP_001159579.1:p.Tyr167Cys	NC_000001.10:g.120306854T>C	OMIM Allelic Variant:600234.0006	C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
NM_001166107.1(HMGCS2):c.160G>A (p.Val54Met)	3158	HMGCS2	Pathogenic	28937320	RCV000009843;	N	MedGen:C2751532,OMIM:605911,ORPHA:35701	1	120307194	120307194	NM_001166107.1:c.160G>A	NP_001159579.1:p.Val54Met	NC_000001.10:g.120307194C>T	OMIM Allelic Variant:600234.0005	C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency