Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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

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

Disease Browser
Parent Node: Amino Acid Metabolism, Inborn Errors (D000592)
..Starting node ..3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (C538324)
Child Nodes:
Sister Nodes:
..2-Methylacetoacetyl CoA thiolase deficiency (C535307)
..2-Methylbutyryl-CoA Dehydrogenase Deficiency (C566487)
..3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (C538324)
..3-Hydroxyisobutyric aciduria (C535312)
..5-oxoprolinase deficiency (C535322)
..Acidemia, isovaleric (C538167)
..Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)
..Adams Nance syndrome (C538224)
..Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..Albinism (D000417) 30
..Alkaptonuria (D000474)
..Alpha-ketoglutarate dehydrogenase deficiency (C536582)
..Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..Aminoacylase 1 deficiency (C538246)
..Arakawa syndrome 2 (C537426)
..Arginine:Glycine Amidinotransferase Deficiency (C567192)
..Aromatic amino acid decarboxylase deficiency (C537437)
..Beta ketothiolase deficiency (C535434)
..Beta-Aminoisobutyric Acid, Urinary Excretion of (C565904)
..Beta-Hydroxyisobutyryl CoA Deacylase Deficiency (C562803)
..Blue diaper syndrome (C536239)
..Camptodactyly taurinuria (C537972)
..Carboxypeptidase N Deficiency (C562876)
..Cystathionase Deficiency (C562680)
..Cysteine Peptiduria (C565659)
..Diaminopentanuria (C565630)
..Dibasic Amino Aciduria I (C567132)
..Dimethylglycine Dehydrogenase Deficiency (C565278)
..Gamma aminobutyric acid transaminase deficiency (C535407)
..Glucoglycinuria (C562670)
..Glutamate Monosodium Sensitivity (C562377)
..Glutamine deficiency, congenital (C536832)
..Glutaric aciduria 1 (C536833)
..Glutaric Aciduria III (C562818)
..Glutathione synthetase deficiency (C536835)
..Glutathionuria (C536836)
..Glycine N-Methyltransferase Deficiency (C564683)
..Glycinuria with or without Oxalate Urolithiasis (C563009)
..Histidinemia (C538320)
..Homocarnosinosis (C535328)
..Hydroxykynureninuria (C536081)
..Hydroxyprolinemia (C562669)
..Hyperglycinemia, Nonketotic (D020158) 1
..HYPERGLYCINURIA (OMIM:138500)
..Hyperhomocysteinemia (D020138) 8
..Hyperleucine-Isoleucinemia (C562674)
..Hyperlysinemias (D020167) 3
..Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase (C566700)
..Hyperprolinemia (C538384)
..Hyperprolinemia type 2 (C538385)
..Hypertaurinuric Cardiomyopathy (C564157)
..Hypertryptophanemia (C538393)
..Hypertryptophanemia, Familial (C563467)
..Ichthyosis, Split Hairs, and Amino Aciduria (C565471)
..Indolylacroyl Glycinuria with Mental Retardation (C565466)
..Isobutyryl-CoA dehydrogenase deficiency (C535541)
..Ketoadipicaciduria (C565453)
..Lysine Malabsorption Syndrome (C563080)
..Lysinuric Protein Intolerance (C562687)
..Maple Syrup Urine Disease (D008375) 5
..Mercaptolactate-Cysteine Disulfiduria (C563085)
..Methionine Adenosyltransferase Deficiency (C562681)
..Methionine Malabsorption Syndrome (C562682)
..Methylmalonate Semialdehyde Dehydrogenase Deficiency (C566402)
..Methylmalonic acidemia (C537358) 1
..Methylmalonic acidemia with homocystinuria (C537359)
..Methylmalonic Aciduria and Homocystinuria, CblD Type (C564743)
..Methylmalonic Aciduria and Homocystinuria, CblF Type (C564747)
..Methylmalonic aciduria cblA type (C537360)
..Methylmalonic aciduria cblB type (C537361)
..Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency (C565390)
..Methylmalonyl-CoA Epimerase Deficiency (C565386)
..Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency (C565387)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
..Multiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) 1
..Multiple Carboxylase Deficiency (D009100) 4
..Myopathy due to Malate-Aspartate Shuttle Defect (C564973)
..Phenylketonurias (D010661) 8
..Prolidase Deficiency (D056732)
..Propionic Acidemia (D056693) 1
..Richards-Rundle syndrome (C535674)
..Sarcosinemia (C537236)
..succinic semialdehyde dehydrogenase deficiency (C535803)
..Sulfite oxidase deficiency (C538141)
..Tiglic acidemia (C536921)
..Tryptophanuria With Dwarfism (C562658)
..Tyrosinemias (D020176) 1
..Tyrosinosis (C562659)
..Urea Cycle Disorders, Inborn (D056806) 16
..Urocanase deficiency (C536479)
..Valinemia (C536524)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

Name:

3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency

Definition:

Alternative IDs:

OMIM:246450

ParentIDs:

MESH:D000592

TreeNumbers:

C16.320.565.100/C538324 |C18.452.648.100/C538324

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C538324
MeSH: C538324
OMIM: 246450;

Genes: HMGCL;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003344	3-Methylglutaric aciduria
3	HP:0001259	Coma
4	HP:0003819	Death in childhood
5	HP:0003234	Decreased plasma carnitine
6	HP:0001262	Excessive daytime somnolence
7	HP:0001945	Fever
8	HP:0003150	Glutaric aciduria
9	HP:0002240	Hepatomegaly
10	HP:0001987	Hyperammonemia
11	HP:0001943	Hypoglycemia
12	HP:0410051	Increased level of 3-hydroxy-3-methylglutaric acid in urine
13	HP:0410066	Increased level of hippuric acid in urine
14	HP:0001942	Metabolic acidosis

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_000191.2(HMGCL):c.914_915delTT (p.Phe305Tyrfs)	3155	HMGCL	Pathogenic	786205431	RCV000032616;	N	MedGen:C0268601,OMIM:246450,SNOMED CT:124611007	1	24129016	24129017	NM_000191.2:c.914_915delTT	NP_000182.2:p.Phe305Tyrfs	NC_000001.10:g.24129016_24129017delAA	OMIM Allelic Variant:613898.0006	C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase
NM_000191.2(HMGCL):c.835G>A (p.Glu279Lys)	3155	HMGCL	Pathogenic	121964998	RCV000012736;	N	MedGen:C0268601,OMIM:246450,SNOMED CT:124611007	1	24130931	24130931	NM_000191.2:c.835G>A	NP_000182.2:p.Glu279Lys	NC_000001.10:g.24130931C>T	OMIM Allelic Variant:613898.0005	C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase
NM_000191.2(HMGCL):c.208G>C (p.Val70Leu)	3155	HMGCL	Pathogenic	121964996	RCV000012733;	N	MedGen:C0268601,OMIM:246450,SNOMED CT:124611007	1	24144010	24144010	NM_000191.2:c.208G>C	NP_000182.2:p.Val70Leu	NC_000001.10:g.24144010C>G	OMIM Allelic Variant:613898.0002	C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase
NM_000191.2(HMGCL):c.206_207delCT (p.Ser69Cysfs)	3155	HMGCL	Pathogenic	752137615	RCV000012732; RCV000185970;	N	MedGen:C0268601,OMIM:246450,SNOMED CT:124611007; MedGen:CN221809	1	24144011	24144012	NM_000191.2:c.206_207delCT	NP_000182.2:p.Ser69Cysfs	NC_000001.10:g.24144011_24144012delAG	OMIM Allelic Variant:613898.0001	C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase; CN221809 not provided
NM_000191.2(HMGCL):c.122G>A (p.Arg41Gln)	3155	HMGCL	Pathogenic	121964997	RCV000012735; RCV000078342;	N	MedGen:C0268601,OMIM:246450,SNOMED CT:124611007; MedGen:CN221809	1	24147022	24147022	NM_000191.2:c.122G>A	NP_000182.2:p.Arg41Gln	NC_000001.10:g.24147022C>T	HGMD:CM980987,OMIM Allelic Variant:613898.0004	C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase; CN221809 not provided
NM_000191.2(HMGCL):c.109G>T (p.Glu37Ter)	3155	HMGCL	Pathogenic	763494292	RCV000175544;	N	MedGen:C0268601,OMIM:246450,SNOMED CT:124611007	1	24147035	24147035	NM_000191.2:c.109G>T	NP_000182.2:p.Glu37Ter	NC_000001.10:g.24147035C>A	-	C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase