IVA
MCID: ISV001
MIFTS: 55

Isovaleric Acidemia (IVA)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Isovaleric Acidemia

MalaCards integrated aliases for Isovaleric Acidemia:

Name: Isovaleric Acidemia 56 12 52 25 58 73 36 13 54 15 39
Isovaleric Acid Coa Dehydrogenase Deficiency 56 12 52 58 73
Isovaleryl-Coa Dehydrogenase Deficiency 12 25 29 6 71
Ivd Deficiency 56 52 25 73
Iva 56 52 25 73
Acidemia, Isovaleric 74 43
Isovaleric Acid-Coa Dehydrogenase Deficiency 25
Isovaleryl Coa Carboxylase Deficiency 52
Isovaleric Aciduria 12

Characteristics:

Orphanet epidemiological data:

58
isovaleric acidemia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood,Infancy;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
approximately 50% of cases are acute, severe neonatal illness often with rapid death and 50% are chronic episodic with asymptomatic intervals
odor of 'sweaty feet'


HPO:

31
isovaleric acidemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:14753
OMIM 56 243500
KEGG 36 H00173
NCIt 49 C98964
SNOMED-CT 67 87827003
ICD10 32 E71.110
MESH via Orphanet 44 C538167
ICD10 via Orphanet 33 E71.1
UMLS via Orphanet 72 C0268575
Orphanet 58 ORPHA33
UMLS 71 C0268575

Summaries for Isovaleric Acidemia

Genetics Home Reference : 25 Isovaleric acidemia is a rare disorder in which the body is unable to properly break down a particular protein building block (amino acid). The condition is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems. Normally, the body breaks down proteins from food into smaller parts called amino acids. Amino acids can be further processed to provide energy for growth and development. People with isovaleric acidemia have inadequate levels of an enzyme that helps break down a particular amino acid called leucine. Health problems related to isovaleric acidemia range from very mild to life-threatening. In severe cases, the features of isovaleric acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, seizures, and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including seizures, coma, and possibly death. A characteristic sign of isovaleric acidemia is a distinctive odor of sweaty feet during acute illness. This odor is caused by the buildup of a compound called isovaleric acid in affected individuals. In other cases, the signs and symptoms of isovaleric acidemia appear during childhood and may come and go over time. Children with this condition may fail to gain weight and grow at the expected rate (failure to thrive) and often have delayed development. In these children, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), infections, or eating an increased amount of protein-rich foods. Some people with gene mutations that cause isovaleric acidemia are asymptomatic, which means they never experience any signs or symptoms of the condition.

MalaCards based summary : Isovaleric Acidemia, also known as isovaleric acid coa dehydrogenase deficiency, is related to carbonic anhydrase va deficiency, hyperammonemia due to and isolated methylmalonic acidemia, and has symptoms including seizures, vomiting and lethargy. An important gene associated with Isovaleric Acidemia is IVD (Isovaleryl-CoA Dehydrogenase), and among its related pathways/superpathways are Valine, leucine and isoleucine degradation and Metabolism. The drugs carbamide peroxide and Ornithine have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and cortex, and related phenotypes are global developmental delay and metabolic acidosis

Disease Ontology : 12 An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine.

NIH Rare Diseases : 52 Isovaleric acidemia (IVA) is a type of organic acid disorder in which affected individuals have problems breaking down an amino acid called leucine from the food they eat. Signs and symptoms may range from very mild to life-threatening. In severe cases, symptoms begin within a few days of birth and include poor feeding, vomiting, seizures , and lack of energy (lethargy); these may progress to more serious medical problems including seizures, coma, and possibly death. In other cases, signs and symptoms appear during childhood and may come and go over time. A characteristic sign of IVA is a distinctive odor of sweaty feet during acute illness. Other features may include failure to thrive or delayed development. IVA is caused by mutations in the IVD gene and is inherited in an autosomal recessive manner. Treatment involves moderate restriction of proteins in the diet and oral administration of glycine and L-carnitine which helps to rid the body of excess isovaleric acid.

OMIM : 56 Isovaleric acidemia is an inborn error of leucine metabolism caused by a deficiency of isovaleryl-CoA dehydrogenase. It can present with severe neonatal ketoacidosis leading to death, but in milder cases recurrent episodes of ketoacidosis of varying degree occur later in infancy and childhood (summary by Vockley et al., 1991). (243500)

KEGG : 36 Isovaleric acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism caused by a deficiency of the mitochondrial enzyme isovaleryl-CoA dehydrogenase resulting in the accumulation of derivatives of isovaleryl-CoA.

UniProtKB/Swiss-Prot : 73 Isovaleric acidemia: A metabolic disorder characterized by retarded psychomotor development, a peculiar odor resembling sweaty feet, an aversion to dietary protein, and pernicious vomiting, leading to acidosis and coma. The acute neonatal form leads to massive metabolic acidosis from the first days of life and rapid death.

Wikipedia : 74 Isovaleric acidemia is a rare autosomal recessive metabolic disorder which disrupts or prevents normal... more...

Related Diseases for Isovaleric Acidemia

Diseases related to Isovaleric Acidemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 250)
# Related Disease Score Top Affiliating Genes
1 carbonic anhydrase va deficiency, hyperammonemia due to 31.3 NAGS CPS1
2 isolated methylmalonic acidemia 30.0 MMUT MMAA
3 acyl-coa dehydrogenase deficiency 30.0 HADHA ACADVL ACADSB ACADS
4 multiple acyl-coa dehydrogenase deficiency 29.4 IVD HADHA ACADVL ACADSB ACADS
5 multiple carboxylase deficiency 29.3 PCCB MMD HADHA BTD ACADS
6 methylmalonic acidemia 28.4 PCCB NAGS MMUT MMD MMAA CPS1
7 homocystinuria 28.1 MMUT MMD MMAA HADHA BTD
8 organic acidemia 28.0 PCCB NAGS MMUT MMD MMAA IVD
9 maple syrup urine disease 27.2 PCCB NAGS MMUT MMD MMAA IVD
10 propionic acidemia 26.2 PCCB NAGS MMUT MMD MMAA IVD
11 mucopolysaccharidosis, type iva 12.9
12 mucopolysaccharidosis iv 11.6
13 waardenburg syndrome, type 4a 11.5
14 gastrointestinal ulceration, recurrent, with dysfunctional platelets 11.4
15 mucopolysaccharidosis, type ivb 11.2
16 torsion dystonia 4 11.2
17 mucopolysaccharidosis-plus syndrome 10.9
18 metabolic acidosis 10.8
19 inherited metabolic disorder 10.6
20 ocular motor apraxia 10.6
21 autosomal recessive disease 10.6
22 cervical cancer 10.5
23 pancytopenia 10.5
24 morquio syndrome 10.5
25 lysosomal storage disease 10.5
26 diabetes mellitus, ketosis-prone 10.5
27 neutropenia 10.5
28 thymoma, familial 10.5
29 thymoma 10.5
30 thrombocytopenia 10.4
31 hyperglycemia 10.4
32 mucopolysaccharidoses 10.4
33 nasopharyngeal carcinoma 10.4
34 suppressor of tumorigenicity 3 10.3
35 bile duct cysts 10.3
36 acute pancreatitis 10.3
37 pancreatitis 10.3
38 aminoacidopathies 10.3
39 encephalopathy 10.3
40 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 10.3 NAGS CPS1
41 odontoid hypoplasia 10.2
42 pectus carinatum 10.2
43 citrullinemia, type ii, adult-onset 10.2 NAGS CPS1
44 angelman syndrome 10.2
45 renal tubular acidosis, proximal 10.2
46 ebstein anomaly 10.2
47 ataxia and polyneuropathy, adult-onset 10.2
48 fanconi renotubular syndrome 2 10.2
49 west syndrome 10.2
50 fanconi syndrome 10.2

Graphical network of the top 20 diseases related to Isovaleric Acidemia:



Diseases related to Isovaleric Acidemia

Symptoms & Phenotypes for Isovaleric Acidemia

Human phenotypes related to Isovaleric Acidemia:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 metabolic acidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001942
3 seizure 31 frequent (33%) HP:0001250
4 cerebellar hemorrhage 31 occasional (7.5%) HP:0011695
5 seizures 58 Frequent (79-30%)
6 dehydration 31 HP:0001944
7 vomiting 31 HP:0002013
8 thrombocytopenia 31 HP:0001873
9 lethargy 31 HP:0001254
10 bone marrow hypocellularity 31 HP:0005528
11 pancytopenia 31 HP:0001876
12 leukopenia 31 HP:0001882
13 coma 31 HP:0001259
14 ketoacidosis 31 HP:0001993
15 hyperglycinuria 31 HP:0003108

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
lethargy
coma
developmental delay
cerebellar hemorrhage (rare)

Abdomen Gastrointestinal:
vomiting
feeding refusal, especially aversion to protein

Laboratory Abnormalities:
isovalericacidemia
isovalericaciduria
isovalerylglycinuria
deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

Metabolic Features:
dehydration
metabolic acidosis
ketoacidosis

Hematology:
thrombocytopenia
pancytopenia
leukopenia
hypoplastic bone marrow

Clinical features from OMIM:

243500

UMLS symptoms related to Isovaleric Acidemia:


seizures, vomiting, lethargy

Drugs & Therapeutics for Isovaleric Acidemia

Drugs for Isovaleric Acidemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
carbamide peroxide Approved Phase 2 124-43-6
2
Ornithine Approved, Nutraceutical Phase 2 70-26-8, 3184-13-2 6262

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hypothermia Treatment in Hyperammonemia and Encephalopathy Completed NCT01624311 Phase 2

Search NIH Clinical Center for Isovaleric Acidemia

Cochrane evidence based reviews: acidemia, isovaleric

Genetic Tests for Isovaleric Acidemia

Genetic tests related to Isovaleric Acidemia:

# Genetic test Affiliating Genes
1 Isovaleryl-Coa Dehydrogenase Deficiency 29 IVD

Anatomical Context for Isovaleric Acidemia

MalaCards organs/tissues related to Isovaleric Acidemia:

40
Bone Marrow, Bone, Cortex, Skin, Brain, Liver, Testes

Publications for Isovaleric Acidemia

Articles related to Isovaleric Acidemia:

(show top 50) (show all 216)
# Title Authors PMID Year
1
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. 6 56 61
15486829 2004
2
Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene. 6 61
10677295 2000
3
Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia. 56 61
2063866 1991
4
The treatment of isovaleric acidemia with glycine supplement. 56 61
3137519 1988
5
Molecular heterogeneity of variant isovaleryl-CoA dehydrogenase from cultured isovaleric acidemia fibroblasts. 61 56
3863140 1985
6
Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts. 61 56
6630517 1983
7
Cerebellar hemorrhage complicating isovaleric acidemia: a case report. 56 61
7195490 1981
8
The pancytopenia of isovaleric acidemia. 61 56
7367115 1980
9
Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia. 61 56
6928646 1980
10
Isovaleric acidemia: use of glycine therapy in neonates. 56 61
692626 1978
11
Isovaleric acidemia: identification of isovalerate, isovalerylglycine, and 3-hydroxyisovalerate in urine of a patient previously reported as having butyric and hexanoic acidemia. 61 56
4684367 1973
12
Identification of beta-hydroxyisovaleric acid in the urine of a patient with isovaleric acidemia. 61 56
5656832 1968
13
Isovaleric acidemia. Clinical features of a new genetic defect of leucine metabolism. 61 56
4378266 1967
14
Isovaleric acidemia. 61 56
6015910 1967
15
Isovaleric acidemia: a new genetic defect of leucine metabolism. 56 61
5229850 1966
16
Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. 56
20142522 2010
17
A Scandinavian case of isovaleric acidaemia. 56
3139936 1988
18
The response to L-carnitine and glycine therapy in isovaleric acidaemia. 56
3956533 1986
19
Two sisters with isovaleric acidaemia, multiple attacks of ketoacidosis and normal development. 56
477679 1979
20
Neonatal death associated with isovalericacidaemia. 56
4166104 1967
21
An inborn error of short-chain fatty acid metabolism. The odor-of-sweaty-feet syndrome. 56
6016812 1967
22
2-methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screen. 54 61
17393751 2007
23
Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death. 61 54
11427446 2001
24
Newborn screening for isovaleric acidemia in Quanzhou, China. 61
32505769 2020
25
Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing. 61
32304307 2020
26
1H-NMR based metabolomic profiling of cord blood in gestational hypothyroidism. 61
32355740 2020
27
Cardiometabolic risk factor clustering in patients with deficient branched-chain amino acid catabolism: A case-control study. 61
32118306 2020
28
Isovaleric Acidemia: A Rare Case of an Inborn Error of Metabolism. 61
32257695 2020
29
Molecular analysis using targeted next generation DNA sequencing and clinical spectrum of Mexican patients with isovaleric acidemia. 61
31707166 2020
30
Eight novel mutations detected from eight Chinese patients with isovaleric acidemia. 61
31442447 2019
31
[Analysis of inborn error metabolism in 277 children with autism spectrum disorders from Hainan]. 61
31515778 2019
32
Epidemiology of rare diseases detected by newborn screening in the Czech Republic. 61
31241292 2019
33
Prenatal Diagnosis of Organic Acidemias at a Tertiary Center. 61
31523617 2019
34
Mild inborn errors of metabolism in commonly used inbred mouse strains. 61
30709776 2019
35
Unusual Metabolites in a Patient with Isovaleric Acidemia. 61
30923063 2019
36
Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature. 61
30730842 2019
37
Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry. 61
30723736 2019
38
Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias. 61
30159853 2018
39
[False positive on neonatal screening: C5-carnitin increase in newborns due to pre-labour treatment with cefditoren pivoxil]. 61
29863107 2018
40
A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry. 61
29402417 2018
41
Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review. 61
30166758 2018
42
Frequency of Inborn Errors of Metabolism in a Northeastern Iranian Sample with High Consanguinity Rates. 61
30036870 2018
43
The Relationship between Dietary Intake, Growth, and Body Composition in Inborn Errors of Intermediary Protein Metabolism. 61
28629683 2017
44
Dietary practices in isovaleric acidemia: A European survey. 61
28275552 2017
45
Selective and accurate C5 acylcarnitine quantitation by UHPLC-MS/MS: Distinguishing true isovaleric acidemia from pivalate derived interference. 61
28734160 2017
46
Isovaleric acidemia: Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case study. 61
30547004 2017
47
Detection of inborn errors of metabolism utilizing GC-MS urinary metabolomics coupled with a modified orthogonal partial least squares discriminant analysis. 61
28153297 2017
48
A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia with Novel Mutation. 61
28401058 2017
49
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia. 61
27904153 2017
50
The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening. 61
27928776 2017

Variations for Isovaleric Acidemia

ClinVar genetic disease variations for Isovaleric Acidemia:

6 (show top 50) (show all 200) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IVD NM_002225.5(IVD):c.870dup (p.Pro291fs)duplication Pathogenic 459932 rs759159766 15:40707167-40707168 15:40414968-40414969
2 IVD NM_002225.5(IVD):c.381del (p.Ala128fs)deletion Pathogenic 459924 rs769048174 15:40702921-40702921 15:40410722-40410722
3 IVD NM_002225.5(IVD):c.1175G>A (p.Arg392His)SNV Pathogenic 623383 rs982218848 15:40710365-40710365 15:40418166-40418166
4 IVD NM_002225.5(IVD):c.960G>T (p.Gln320His)SNV Pathogenic 627426 rs367814475 15:40707681-40707681 15:40415482-40415482
5 IVD NM_002225.5(IVD):c.243G>A (p.Trp81Ter)SNV Pathogenic 653100 15:40700146-40700146 15:40407947-40407947
6 IVD NM_002225.5(IVD):c.1069_1070TG[1] (p.Ala358fs)short repeat Pathogenic 844890 15:40708492-40708493 15:40416293-40416294
7 IVD NM_002225.5(IVD):c.1009C>G (p.Arg337Gly)SNV Pathogenic 803067 15:40708325-40708325 15:40416126-40416126
8 IVD NM_002225.5(IVD):c.1206del (p.Ile402fs)deletion Pathogenic 803068 15:40710396-40710396 15:40418197-40418197
9 IVD NM_002225.5(IVD):c.1231C>T (p.Arg411Trp)SNV Pathogenic 803069 15:40710421-40710421 15:40418222-40418222
10 IVD NC_000015.10:g.(?_40418110)_(40418283_?)deldeletion Pathogenic 830813 15:40710309-40710482
11 IVD NC_000015.9:g.(?_40698000)_(40700209_?)deldeletion Pathogenic 830632 15:40698000-40700209
12 IVD NM_002225.5(IVD):c.61_67del (p.Leu21fs)deletion Pathogenic 851748 15:40698085-40698091 15:40405884-40405890
13 IVD NM_002225.5(IVD):c.870del (p.Pro291fs)deletion Pathogenic 854919 15:40707168-40707168 15:40414969-40414969
14 IVD NM_002225.5(IVD):c.596G>T (p.Gly199Val)SNV Pathogenic 3563 rs121434285 15:40703799-40703799 15:40411600-40411600
15 IVD NM_002225.5(IVD):c.932C>T (p.Ala311Val)SNV Pathogenic 100060 rs28940889 15:40707653-40707653 15:40415454-40415454
16 IVD NM_002225.5(IVD):c.456+2T>CSNV Pathogenic 94055 rs398123683 15:40702998-40702998 15:40410799-40410799
17 IVD NM_002225.5(IVD):c.498del (p.Glu166fs)deletion Pathogenic 94056 rs398123684 15:40703500-40703500 15:40411301-40411301
18 IVD NM_002225.5(IVD):c.784+1G>ASNV Pathogenic 198480 rs763471771 15:40705287-40705287 15:40413088-40413088
19 IVD NM_002225.5(IVD):c.1174C>T (p.Arg392Cys)SNV Pathogenic 265202 rs371427844 15:40710364-40710364 15:40418165-40418165
20 IVD NM_002225.5(IVD):c.232C>T (p.Arg78Ter)SNV Pathogenic 370807 rs765815516 15:40699924-40699924 15:40407723-40407723
21 IVD NM_002225.5(IVD):c.550+1G>ASNV Pathogenic 372389 rs377147994 15:40703553-40703553 15:40411354-40411354
22 IVD NM_002225.5(IVD):c.149G>A (p.Arg50His)SNV Pathogenic/Likely pathogenic 370843 rs2229311 15:40699841-40699841 15:40407640-40407640
23 IVD NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys)SNV Pathogenic/Likely pathogenic 371390 rs773560012 15:40710389-40710389 15:40418190-40418190
24 IVD NM_002225.5(IVD):c.1179del (p.Leu394fs)deletion Pathogenic/Likely pathogenic 188993 rs786204613 15:40710369-40710369 15:40418168-40418168
25 IVD NM_002225.5(IVD):c.102_103del (p.Val35fs)deletion Pathogenic/Likely pathogenic 371578 rs1057517379 15:40698130-40698131 15:40405929-40405930
26 IVD NM_002225.5(IVD):c.397_398del (p.Cys133fs)deletion Pathogenic/Likely pathogenic 94054 rs398123682 15:40702937-40702938 15:40410738-40410739
27 IVD NM_002225.5(IVD):c.358G>A (p.Gly120Arg)SNV Pathogenic/Likely pathogenic 167199 rs142761835 15:40702898-40702898 15:40410699-40410699
28 IVD NM_002225.5(IVD):c.149G>C (p.Arg50Pro)SNV Pathogenic/Likely pathogenic 188922 rs2229311 15:40699841-40699841 15:40407640-40407640
29 IVD NM_002225.5(IVD):c.1183C>T (p.Arg395Ter)SNV Pathogenic/Likely pathogenic 571005 rs398123681 15:40710373-40710373 15:40418174-40418174
30 IVD NM_002225.5(IVD):c.878+1G>ASNV Likely pathogenic 552128 rs745629936 15:40707182-40707182 15:40414983-40414983
31 IVD NM_002225.5(IVD):c.974del (p.Lys325fs)deletion Likely pathogenic 552711 rs1555405070 15:40708289-40708289 15:40416090-40416090
32 IVD NM_002225.5(IVD):c.994del (p.Arg332fs)deletion Likely pathogenic 553143 rs1555405080 15:40708308-40708308 15:40416109-40416109
33 IVD NM_002225.5(IVD):c.157_160dup (p.Ala54fs)duplication Likely pathogenic 550930 rs1555403211 15:40699848-40699849 15:40407647-40407648
34 IVD NM_002225.5(IVD):c.711dup (p.Lys238Ter)duplication Likely pathogenic 550667 rs1555404426 15:40705212-40705213 15:40413013-40413014
35 IVD NM_002225.5(IVD):c.-8T>CSNV Likely pathogenic 551816 rs566691073 15:40698021-40698021 15:40405820-40405820
36 IVD NM_002225.5(IVD):c.44G>A (p.Trp15Ter)SNV Likely pathogenic 550517 rs907414760 15:40698072-40698072 15:40405871-40405871
37 IVD NM_002225.5(IVD):c.349C>T (p.Arg117Ter)SNV Likely pathogenic 551222 rs776015412 15:40702889-40702889 15:40410690-40410690
38 IVD NM_002225.5(IVD):c.961-1G>TSNV Likely pathogenic 558117 rs1555405067 15:40708276-40708276 15:40416077-40416077
39 IVD NM_002225.5(IVD):c.1229_1256del (p.Arg410fs)deletion Likely pathogenic 551276 rs1555405428 15:40710418-40710445 15:40418219-40418246
40 IVD NM_002225.5(IVD):c.-9A>TSNV Likely pathogenic 552811 rs373594717 15:40698020-40698020 15:40405819-40405819
41 IVD NM_002225.5(IVD):c.287-1G>ASNV Likely pathogenic 552580 rs1398838997 15:40702826-40702826 15:40410627-40410627
42 IVD NM_002225.5(IVD):c.785-1G>ASNV Likely pathogenic 557485 rs1555404784 15:40707087-40707087 15:40414888-40414888
43 IVD NM_002225.5(IVD):c.456+22_510delinsGTTGindel Likely pathogenic 459929 rs1555403942 15:40703018-40703512 15:40410819-40411313
44 IVD NM_002225.5(IVD):c.883A>T (p.Met295Leu)SNV Likely pathogenic 635282 15:40707604-40707604 15:40415405-40415405
45 IVD NC_000015.10:g.(?_40412971)_(40418283_?)deldeletion Likely pathogenic 645877 15:40705170-40710482 15:40412971-40418283
46 IVD NM_002225.5(IVD):c.457-3_457-2delinsGGindel Likely pathogenic 188724 rs786204427 15:40703456-40703457 15:40411257-40411258
47 IVD NM_002225.5(IVD):c.457-2A>GSNV Likely pathogenic 188720 rs771914739 15:40703457-40703457 15:40411258-40411258
48 IVD NM_002225.5(IVD):c.148C>T (p.Arg50Cys)SNV Likely pathogenic 3567 rs34695403 15:40699840-40699840 15:40407639-40407639
49 IVD NM_002225.5(IVD):c.890C>T (p.Ala297Val)SNV Likely pathogenic 203792 rs796051983 15:40707611-40707611 15:40415412-40415412
50 IVD NM_002225.5(IVD):c.599del (p.Pro200fs)deletion Likely pathogenic 587624 rs1566936542 15:40703800-40703800 15:40411601-40411601

UniProtKB/Swiss-Prot genetic disease variations for Isovaleric Acidemia:

73 (show all 14)
# Symbol AA change Variation ID SNP ID
1 IVD p.Leu45Pro VAR_000423 rs121434284
2 IVD p.Gly202Val VAR_000424 rs121434285
3 IVD p.Arg53Pro VAR_015960 rs2229311
4 IVD p.Asp72Asn VAR_015961 rs747273828
5 IVD p.Ala314Val VAR_015962 rs28940889
6 IVD p.Cys360Arg VAR_015963 rs760822119
7 IVD p.Val374Ala VAR_015964 rs754600862
8 IVD p.Arg395Cys VAR_015965 rs371427844
9 IVD p.Arg414Leu VAR_015966
10 IVD p.Ala97Gly VAR_070061
11 IVD p.Gly123Arg VAR_070062 rs142761835
12 IVD p.Ile199Met VAR_070063
13 IVD p.Leu279Pro VAR_070064
14 IVD p.Tyr403Cys VAR_070065 rs773560012

Expression for Isovaleric Acidemia

Search GEO for disease gene expression data for Isovaleric Acidemia.

Pathways for Isovaleric Acidemia

Pathways related to Isovaleric Acidemia according to KEGG:

36
# Name Kegg Source Accession
1 Valine, leucine and isoleucine degradation hsa00280

Pathways related to Isovaleric Acidemia according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 PCCB NAGS MMUT MMAA IVD HADHA
2
Show member pathways
12.65 PCCB MMUT MMAA HADHA ACADVL ACADS
3
Show member pathways
12.42 PCCB MMUT MMAA BTD
4
Show member pathways
12.23 HADHA ACADVL ACADSB ACADS
5
Show member pathways
12.12 PCCB NAGS MMUT HADHA CPS1 ACADS
6
Show member pathways
11.64 PCCB MMUT MMAA
7
Show member pathways
11.36 HADHA ACADVL ACADS
8
Show member pathways
11.25 PCCB MMUT MMAA HADHA ACADVL ACADS
9
Show member pathways
11.24 PCCB MMUT IVD HADHA BCKDHB ACADSB
10
Show member pathways
11.16 HADHA ACADS
11
Show member pathways
11.12 DHTKD1 BCKDHB
12
Show member pathways
11.1 HADHA ACADS
13 11.09 PCCB MMUT HADHA BCKDHB ACADS
14 11.03 PCCB MMUT
15
Show member pathways
10.96 NAGS CPS1
16
Show member pathways
10.92 NAGS CPS1
17 10.85 MMUT MMAA
18
Show member pathways
10.85 IVD HADHA ACADSB
19
Show member pathways
10.03 MMUT MMAA

GO Terms for Isovaleric Acidemia

Cellular components related to Isovaleric Acidemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.77 PCCB NAGS MMUT MMAA IVD HADHA
2 mitochondrial matrix GO:0005759 9.44 PCCB NAGS MMUT MMAA IVD GLYAT
3 mitochondrial nucleoid GO:0042645 9.33 HADHA CPS1 ACADVL

Biological processes related to Isovaleric Acidemia according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.81 HADHA ACADVL ACADSB ACADS
2 oxidation-reduction process GO:0055114 9.7 IVD HADHA DHTKD1 BCKDHB ACADVL ACADSB
3 fatty acid metabolic process GO:0006631 9.67 HADHA ACADVL ACADSB ACADS
4 fatty acid beta-oxidation GO:0006635 9.5 HADHA ACADVL ACADS
5 cobalamin metabolic process GO:0009235 9.49 MMUT MMAA
6 nitrogen compound metabolic process GO:0006807 9.48 CPS1 BTD
7 urea cycle GO:0000050 9.46 NAGS CPS1
8 biotin metabolic process GO:0006768 9.43 PCCB BTD
9 branched-chain amino acid catabolic process GO:0009083 9.43 IVD BCKDHB ACADSB
10 homocysteine metabolic process GO:0050667 9.4 MMUT CPS1
11 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.13 IVD ACADVL ACADS
12 short-chain fatty acid catabolic process GO:0019626 8.8 PCCB MMUT MMAA

Molecular functions related to Isovaleric Acidemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.73 MMUT HADHA CPS1 BCKDHB
2 oxidoreductase activity GO:0016491 9.7 IVD HADHA DHTKD1 BCKDHB ACADVL ACADSB
3 flavin adenine dinucleotide binding GO:0050660 9.56 IVD ACADVL ACADSB ACADS
4 fatty-acyl-CoA binding GO:0000062 9.4 HADHA ACADVL
5 modified amino acid binding GO:0072341 9.37 MMUT CPS1
6 butyryl-CoA dehydrogenase activity GO:0004085 9.32 IVD ACADS
7 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.26 IVD ACADVL ACADSB ACADS
8 acyl-CoA dehydrogenase activity GO:0003995 8.92 IVD ACADVL ACADSB ACADS

Sources for Isovaleric Acidemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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