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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: Abnormalities, Multiple (D000015)
Parent Node: Amino Acid Metabolism, Inborn Errors (D000592)
..Starting node ..Beta-Hydroxyisobutyryl CoA Deacylase Deficiency (C562803)
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:

1236

Name:

Beta-Hydroxyisobutyryl CoA Deacylase Deficiency

Definition:

Alternative IDs:

OMIM:250620

ParentIDs:

MESH:D000015|MESH:D000592

TreeNumbers:

C16.131.077/C562803 |C16.320.565.100/C562803 |C18.452.648.100/C562803

Synonyms:

3-Hydroxyisobutyryl-CoA Hydrolase Deficiency |HIBCH Deficiency |Methacrylic Acid Toxicity |Methacrylic Aciduria |Valine Metabolic Defect

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C562803
MeSH: C562803
OMIM: 250620;

Genes: HIBCH;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0001999	Abnormal facial shape
4	HP:0003468	Abnormal vertebral morphology
5	HP:0000925	Abnormality of the vertebral column
6	HP:0001274	Agenesis of corpus callosum
7	HP:0003355	Aminoaciduria
8	HP:0002376	Developmental regression
9	HP:0001310	Dysmetria
10	HP:0001332	Dystonia
11	HP:0000286	Epicanthus
12	HP:0011968	Feeding difficulties
13	HP:0001290	Generalized hypotonia
14	HP:0001263	Global developmental delay
15	HP:0001336	Myoclonus
16	HP:0000639	Nystagmus
17	HP:0001250	Seizure
18	HP:0000486	Strabismus
19	HP:0001636	Tetralogy of Fallot

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_014362.3(HIBCH):c.1128dupT (p.Lys377Terfs)	26275	HIBCH	Pathogenic	863225062	RCV000201262;	N	MedGen:C0342738,OMIM:250620,ORPHA:88639,SNOMED CT:237958002	2	191069876	191069876	NM_014362.3:c.1128dupT	NP_055177.2:p.Lys377Terfs	NC_000002.11:g.191069876dupA	OMIM Allelic Variant:610690.0008	C0342738 250620 Beta-hydroxyisobutyryl-CoA deacylase deficiency
NM_014362.3(HIBCH):c.1033G>A (p.Gly345Ser)	26275	HIBCH	Pathogenic	770114459	RCV000190538;	N	MedGen:C0342738,OMIM:250620,ORPHA:88639,SNOMED CT:237958002	2	191073618	191073618	NM_014362.3:c.1033G>A	NP_055177.2:p.Gly345Ser	NC_000002.11:g.191073618C>T	OMIM Allelic Variant:610690.0007	C0342738 250620 Beta-hydroxyisobutyryl-CoA deacylase deficiency
NM_014362.3(HIBCH):c.950G>A (p.Gly317Glu)	26275	HIBCH	Pathogenic	786204004	RCV000167584;	N	MedGen:C0342738,OMIM:250620,ORPHA:88639,SNOMED CT:237958002	2	191077743	191077743	NM_014362.3:c.950G>A	NP_055177.2:p.Gly317Glu	NC_000002.11:g.191077743C>T	OMIM Allelic Variant:610690.0004	C0342738 250620 Beta-hydroxyisobutyryl-CoA deacylase deficiency
NM_014362.3(HIBCH):c.365A>G (p.Tyr122Cys)	26275	HIBCH	Pathogenic	121918329	RCV000001204;	N	MedGen:C0342738,OMIM:250620,ORPHA:88639,SNOMED CT:237958002	2	191155151	191155151	NM_014362.3:c.365A>G	NP_055177.2:p.Tyr122Cys	NC_000002.11:g.191155151T>C	OMIM Allelic Variant:610690.0002	C0342738 250620 Beta-hydroxyisobutyryl-CoA deacylase deficiency
NM_014362.3(HIBCH):c.220-9T>G	26275	HIBCH	Pathogenic	786200864	RCV000001203;	N	MedGen:C0342738,OMIM:250620,ORPHA:88639,SNOMED CT:237958002	2	191159365	191159365	NM_014362.3:c.220-9T>G		NC_000002.11:g.191159365A>C	OMIM Allelic Variant:610690.0001	C0342738 250620 Beta-hydroxyisobutyryl-CoA deacylase deficiency
NM_014362.3(HIBCH):c.196C>T (p.Arg66Trp)	26275	HIBCH	Pathogenic	757976755	RCV000170481;	N	MedGen:C0342738,OMIM:250620,ORPHA:88639,SNOMED CT:237958002	2	191161562	191161562	NM_014362.3:c.196C>T	NP_055177.2:p.Arg66Trp	NC_000002.11:g.191161562G>A	OMIM Allelic Variant:610690.0005	C0342738 250620 Beta-hydroxyisobutyryl-CoA deacylase deficiency
NM_014362.3(HIBCH):c.79-3C>G	26275	HIBCH	Pathogenic	778922921	RCV000001205;	N	MedGen:C0342738,OMIM:250620,ORPHA:88639,SNOMED CT:237958002	2	191161682	191161682	NM_014362.3:c.79-3C>G		NC_000002.11:g.191161682G>C	OMIM Allelic Variant:610690.0003	C0342738 250620 Beta-hydroxyisobutyryl-CoA deacylase deficiency