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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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Disease Browser
Parent Node: Amino Acid Metabolism, Inborn Errors (D000592)
..Starting node ..Isobutyryl-CoA dehydrogenase deficiency (C535541)
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:

5927

Name:

Isobutyryl-CoA dehydrogenase deficiency

Definition:

Alternative IDs:

OMIM:611283

ParentIDs:

MESH:D000592

TreeNumbers:

C16.320.565.100/C535541 |C18.452.648.100/C535541

Synonyms:

ACAD8 DEFICIENCY |Acyl-CoA dehydrogenase family, member 8, deficiency of |IBD DEFICIENCY |Isobutyryl-Coenzyme A Dehydrogenase Deficiency

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C535541
MeSH: C535541
OMIM: 611283;

Genes: ACAD8;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001903	Anemia
3	HP:0003234	Decreased plasma carnitine
4	HP:0001644	Dilated cardiomyopathy
5	HP:0001252	Hypotonia

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_014384.2(ACAD8):c.455T>C (p.Met152Thr)	27034	ACAD8	Pathogenic	121908418	RCV000005686;	N	MedGen:C1969809,OMIM:611283,ORPHA:79159,SNOMED CT:445274004	11	134128483	134128483	NM_014384.2:c.455T>C	NP_055199.1:p.Met152Thr	NC_000011.9:g.134128483T>C	OMIM Allelic Variant:604773.0001	C1969809 611283 Deficiency of isobutyryl-CoA dehydrogenase
NM_014384.2(ACAD8):c.867C>A (p.His289Gln)	27034	ACAD8	Pathogenic	121908421	RCV000005689;	N	MedGen:C1969809,OMIM:611283,ORPHA:79159,SNOMED CT:445274004	11	134131194	134131194	NM_014384.2:c.867C>A	NP_055199.1:p.His289Gln	NC_000011.9:g.134131194C>A	OMIM Allelic Variant:604773.0004	C1969809 611283 Deficiency of isobutyryl-CoA dehydrogenase
NM_014384.2(ACAD8):c.905G>A (p.Arg302Gln)	27034	ACAD8	Pathogenic;Uncertain significance	121908422	RCV000005690; RCV000180314;	N	MedGen:C1969809,OMIM:611283,ORPHA:79159,SNOMED CT:445274004; MedGen:CN221809	11	134131232	134131232	NM_014384.2:c.905G>A	NP_055199.1:p.Arg302Gln	NC_000011.9:g.134131232G>A	OMIM Allelic Variant:604773.0005	C1969809 611283 Deficiency of isobutyryl-CoA dehydrogenase; CN221809 not provided
NM_014384.2(ACAD8):c.988C>T (p.Arg330Trp)	27034	ACAD8	Pathogenic	121908420	RCV000005688;	N	MedGen:C1969809,OMIM:611283,ORPHA:79159,SNOMED CT:445274004	11	134131680	134131680	NM_014384.2:c.988C>T	NP_055199.1:p.Arg330Trp	NC_000011.9:g.134131680C>T	OMIM Allelic Variant:604773.0003	C1969809 611283 Deficiency of isobutyryl-CoA dehydrogenase
NM_014384.2(ACAD8):c.1129G>A (p.Gly377Ser)	27034	ACAD8	Pathogenic	121908419	RCV000005687; RCV000081615;	N	MedGen:C1969809,OMIM:611283,ORPHA:79159,SNOMED CT:445274004; MedGen:CN221809	11	134132450	134132450	NM_014384.2:c.1129G>A	NP_055199.1:p.Gly377Ser	NC_000011.9:g.134132450G>A	HGMD:CM070642,OMIM Allelic Variant:604773.0002	C1969809 611283 Deficiency of isobutyryl-CoA dehydrogenase; CN221809 not provided