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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: Amino Acid Metabolism, Inborn Errors (D000592)
..Starting node ..Acidemia, isovaleric (C538167)
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:

152

Name:

Acidemia, isovaleric

Definition:

Alternative IDs:

OMIM:243500

ParentIDs:

MESH:D000592

TreeNumbers:

C16.320.565.100/C538167 |C18.452.648.100/C538167

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C538167
MeSH: C538167
OMIM: 243500;

Genes: IVD;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0005528	Bone marrow hypocellularity
3	HP:0011695	Cerebellar hemorrhage	HP:0040283
4	HP:0001259	Coma
5	HP:0001944	Dehydration
6	HP:0001263	Global developmental delay
7	HP:0003108	Hyperglycinuria
8	HP:0001993	Ketoacidosis
9	HP:0001254	Lethargy
10	HP:0001882	Leukopenia
11	HP:0001942	Metabolic acidosis
12	HP:0001876	Pancytopenia
13	HP:0001250	Seizure
14	HP:0001873	Thrombocytopenia
15	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_002225.3(IVD):c.157C>T (p.Arg53Cys)	3712	IVD	Pathogenic	34695403	RCV000003748;	N	MedGen:C0268575,OMIM:243500,ORPHA:33,SNOMED CT:87827003	15	40699840	40699840	NM_002225.3:c.157C>T	NP_002216.2:p.Arg53Cys	NC_000015.9:g.40699840C>T	OMIM Allelic Variant:607036.0006	C0268575 243500 Isovaleryl-CoA dehydrogenase deficiency
NM_002225.3(IVD):c.158G>C (p.Arg53Pro)	3712	IVD	Likely pathogenic	2229311	RCV000169289;	N	MedGen:C0268575,OMIM:243500,ORPHA:33,SNOMED CT:87827003	15	40699841	40699841	NM_002225.3:c.158G>C	NP_002216.2:p.Arg53Pro	NC_000015.9:g.40699841G>C	-	C0268575 243500 Isovaleryl-CoA dehydrogenase deficiency
NM_002225.3(IVD):c.367G>A (p.Gly123Arg)	3712	IVD	Likely pathogenic;Pathogenic	142761835	RCV000169054; RCV000153385;	N	MedGen:C0268575,OMIM:243500,ORPHA:33,SNOMED CT:87827003; MedGen:CN221809	15	40702898	40702898	NM_002225.3:c.367G>A	NP_002216.2:p.Gly123Arg	NC_000015.9:g.40702898G>A	HGMD:CM043004	C0268575 243500 Isovaleryl-CoA dehydrogenase deficiency; CN221809 not provided
NM_002225.3(IVD):c.406_407delTG (p.Cys136Hisfs)	3712	IVD	Pathogenic	398123682	RCV000178176; RCV000079998;	N	MedGen:C0268575,OMIM:243500,ORPHA:33,SNOMED CT:87827003; MedGen:CN221809	15	40702937	40702938	NM_002225.3:c.406_407delTG	NP_002216.2:p.Cys136Hisfs	NC_000015.9:g.40702937_40702938delTG	-	C0268575 243500 Isovaleryl-CoA dehydrogenase deficiency; CN221809 not provided
NM_002225.3(IVD):c.465+2T>C	3712	IVD	Pathogenic	398123683	RCV000178177; RCV000079999;	N	MedGen:C0268575,OMIM:243500,ORPHA:33,SNOMED CT:87827003; MedGen:CN221809	15	40702998	40702998	NM_002225.3:c.465+2T>C		NC_000015.9:g.40702998T>C	HGMD:CS001432	C0268575 243500 Isovaleryl-CoA dehydrogenase deficiency; CN221809 not provided
NM_002225.3(IVD):c.466-3_466-2delCAinsGG	3712	IVD	Likely pathogenic	786204427	RCV000169022;	N	MedGen:C0268575,OMIM:243500,ORPHA:33,SNOMED CT:87827003	15	40703456	40703457	NM_002225.3:c.466-3_466-2delCAinsGG		NC_000015.9:g.40703456_40703457delCAinsGG	-	C0268575 243500 Isovaleryl-CoA dehydrogenase deficiency
NM_002225.3(IVD):c.466-2A>G	3712	IVD	Likely pathogenic	771914739	RCV000169016;	N	MedGen:C0268575,OMIM:243500,ORPHA:33,SNOMED CT:87827003	15	40703457	40703457	NM_002225.3:c.466-2A>G		NC_000015.9:g.40703457A>G	-	C0268575 243500 Isovaleryl-CoA dehydrogenase deficiency
NM_002225.3(IVD):c.507delG (p.Glu169Aspfs)	3712	IVD	Pathogenic	398123684	RCV000178862; RCV000080000;	N	MedGen:C0268575,OMIM:243500,ORPHA:33,SNOMED CT:87827003; MedGen:CN221809	15	40703500	40703500	NM_002225.3:c.507delG	NP_002216.2:p.Glu169Aspfs	NC_000015.9:g.40703500delG	-	C0268575 243500 Isovaleryl-CoA dehydrogenase deficiency; CN221809 not provided
NM_002225.3(IVD):c.793+1G>A	3712	IVD	Pathogenic	763471771	RCV000179846;	N	MedGen:C0268575,OMIM:243500,ORPHA:33,SNOMED CT:87827003	15	40705287	40705287	NM_002225.3:c.793+1G>A		NC_000015.9:g.40705287G>A	-	C0268575 243500 Isovaleryl-CoA dehydrogenase deficiency
NM_002225.3(IVD):c.941C>T (p.Ala314Val)	3712	IVD	Pathogenic	28940889	RCV000003749; RCV000080003;	Y	MedGen:C0268575,OMIM:243500,ORPHA:33,SNOMED CT:87827003; MedGen:CN221809	15	40707653	40707653	NM_002225.3:c.941C>T	NP_002216.2:p.Ala314Val	NC_000015.9:g.40707653C>T	HGMD:CM983435,OMIM Allelic Variant:607036.0007	C0268575 243500 Isovaleryl-CoA dehydrogenase deficiency; CN221809 not provided
NM_002225.3(IVD):c.1141T>C (p.Cys381Arg)	3712	IVD	Likely pathogenic	398123680	RCV000174064; RCV000079995;	N	MedGen:C0268575,OMIM:243500,ORPHA:33,SNOMED CT:87827003; MedGen:CN221809	15	40708555	40708555	NM_002225.3:c.1141T>C	NP_002216.2:p.Cys381Arg	NC_000015.9:g.40708555T>C	-	C0268575 243500 Isovaleryl-CoA dehydrogenase deficiency; CN221809 not provided
NM_002225.3(IVD):c.1188delT (p.Leu397Phefs)	3712	IVD	Likely pathogenic	786204613	RCV000169373;	N	MedGen:C0268575,OMIM:243500,ORPHA:33,SNOMED CT:87827003	15	40710369	40710369	NM_002225.3:c.1188delT	NP_002216.2:p.Leu397Phefs	NC_000015.9:g.40710369delT	-	C0268575 243500 Isovaleryl-CoA dehydrogenase deficiency