MCID: ISV001
MIFTS: 49

Isovaleric Acidemia

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Isovaleric Acidemia

MalaCards integrated aliases for Isovaleric Acidemia:

Name: Isovaleric Acidemia 57 12 53 25 59 75 37 13 55 15 40
Isovaleric Acid Coa Dehydrogenase Deficiency 57 12 53 59 75
Isovaleryl-Coa Dehydrogenase Deficiency 12 25 29 6 73
Ivd Deficiency 57 53 25 75
Iva 57 53 25 75
Acidemia, Isovaleric 76 44
Isovaleric Acid-Coa Dehydrogenase Deficiency 25
Isovaleryl Coa Carboxylase Deficiency 53
Isovaleric Aciduria 12

Characteristics:

Orphanet epidemiological data:

59
isovaleric acidemia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood,Infancy;

OMIM:

57
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:

32
isovaleric acidemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 243500
Disease Ontology 12 DOID:14753
ICD10 33 E71.110
NCIt 50 C98964
SNOMED-CT 68 87827003
Orphanet 59 ORPHA33
MESH via Orphanet 45 C538167
UMLS via Orphanet 74 C0268575
ICD10 via Orphanet 34 E71.1
KEGG 37 H00173
UMLS 73 C0268575

Summaries for Isovaleric Acidemia

NIH Rare Diseases : 53 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.

MalaCards based summary : Isovaleric Acidemia, also known as isovaleric acid coa dehydrogenase deficiency, is related to mucopolysaccharidosis, type iva and mucopolysaccharidosis iv, and has symptoms including lethargy, seizures and vomiting. 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. Affiliated tissues include bone, bone marrow and skin, and related phenotypes are seizures and global developmental delay

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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.

Genetics Home Reference : 25 Isovaleric acidemia is a rare disorder in which the body is unable to process certain proteins properly. It 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.

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

Wikipedia : 76 Isovaleric acidemia is a rare autosomal recessivemetabolic 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 all 39)
# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis, type iva 12.5
2 mucopolysaccharidosis iv 11.7
3 waardenburg syndrome, type 4a 11.2
4 mucopolysaccharidosis, type ivb 10.9
5 diabetes mellitus, ketosis-prone 10.2
6 thymoma 10.2
7 acute pancreatitis 10.2
8 pancreatitis 10.2
9 cervicitis 10.1
10 cervical cancer 10.1
11 bile duct cysts 10.1
12 mucopolysaccharidoses 10.0
13 angelman syndrome 10.0
14 methylmalonic aciduria, cblb type 10.0
15 fanconi syndrome 10.0
16 graves' disease 10.0
17 pancytopenia 10.0
18 infantile epileptic encephalopathy 10.0
19 medium-chain acyl-coenzyme a dehydrogenase deficiency 10.0
20 recurrent acute pancreatitis 10.0
21 morquio syndrome 10.0
22 urea cycle disorder 9.9 ACADS CPS1
23 acyl-coa dehydrogenase, medium-chain, deficiency of 9.9 ACAD8 ACADS
24 hepatitis 9.9
25 squamous cell carcinoma 9.9
26 choriocarcinoma 9.9
27 neuronitis 9.9
28 hepatocellular carcinoma 9.8
29 ovarian cancer 9.8
30 lung cancer 9.8
31 mycosis fungoides 9.8
32 pancreatic cancer 9.8
33 esophagitis 9.8
34 alpha-methylacetoacetic aciduria 9.7 ACAD8 ACADSB
35 acyl-coa dehydrogenase, very long-chain, deficiency of 9.4 ACADS HMGCL
36 acyl-coa dehydrogenase, short-chain, deficiency of 9.3 ACAD8 ACADS ACADSB
37 organic acidemia 9.1 ACADS HMGCL
38 3-methylcrotonyl-coa carboxylase deficiency 8.8 ACAD8 ACADSB HMGCL
39 propionic acidemia 8.8 ACAD8 ACADSB HMGCL

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



Diseases related to Isovaleric Acidemia

Symptoms & Phenotypes for Isovaleric Acidemia

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
coma
lethargy
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:
pancytopenia
thrombocytopenia
leukopenia
hypoplastic bone marrow


Clinical features from OMIM:

243500

Human phenotypes related to Isovaleric Acidemia:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
2 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
3 metabolic acidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001942
4 dehydration 32 HP:0001944
5 vomiting 32 HP:0002013
6 pancytopenia 32 HP:0001876
7 bone marrow hypocellularity 32 HP:0005528
8 thrombocytopenia 32 HP:0001873
9 coma 32 HP:0001259
10 lethargy 32 HP:0001254
11 leukopenia 32 HP:0001882
12 ketoacidosis 32 HP:0001993
13 cerebellar hemorrhage 32 occasional (7.5%) HP:0011695
14 hyperglycinuria 32 HP:0003108

UMLS symptoms related to Isovaleric Acidemia:


lethargy, seizures, vomiting

Drugs & Therapeutics for Isovaleric Acidemia

Search Clinical Trials , 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:

41
Bone, Bone Marrow, Skin, Brain, Testes, Cortex

Publications for Isovaleric Acidemia

Articles related to Isovaleric Acidemia:

(show top 50) (show all 110)
# Title Authors Year
1
Selective and accurate C5 acylcarnitine quantitation by UHPLC-MS/MS: Distinguishing true isovaleric acidemia from pivalate derived interference. ( 28734160 )
2017
2
Genotype-Phenotype Correlation in Patients with Isovaleric Acidemia: Comparative Structural Modelling and Computational Analysis of Novel Variants. ( 28535199 )
2017
3
Dietary practices in isovaleric acidemia: A European survey. ( 28275552 )
2017
4
A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia with Novel Mutation. ( 28401058 )
2017
5
Polyunsaturated fatty acid status in treated isovaleric acidemia patients. ( 27329611 )
2016
6
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia. ( 27904153 )
2016
7
Infantile Spasms during Acute Metabolic Decompensation in an Infant with Isovaleric Acidemia. ( 27165427 )
2016
8
Atypical MR lenticular signal change in infantile isovaleric acidemia. ( 27081237 )
2016
9
Angelman syndrome and isovaleric acidemia: What is the link? ( 26937393 )
2015
10
Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia. ( 26018748 )
2015
11
Anesthetic management of a patient with isovaleric acidemia. ( 25642957 )
2015
12
Isovaleric acidemia presenting as diabetic ketoacidosis: a case report. ( 24637313 )
2014
13
Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia. ( 25220015 )
2014
14
Ebstein cardiac anomaly, functional pulmonary atresia and isovaleric acidemia: A case report. ( 24954991 )
2014
15
Acute pancreatitis with rapid clinical improvement in a child with isovaleric acidemia. ( 23431490 )
2013
16
Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia. ( 23063737 )
2013
17
Clinical and neurocognitive outcome in symptomatic isovaleric acidemia. ( 22277694 )
2012
18
Clinical variability of isovaleric acidemia in a genetically homogeneous population. ( 22350545 )
2012
19
Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene. ( 22960500 )
2012
20
Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia. ( 22004070 )
2011
21
N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia. ( 21207059 )
2011
22
Newborn screening for isovaleric acidemia using tandem mass spectrometry: data from 1.6 million newborns. ( 21335445 )
2011
23
Isovaleric acidemia. ( 21823546 )
2011
24
Maternal isovaleric acidemia: observation of distinctive changes in plasma amino acids and carnitine profiles during pregnancy. ( 20807522 )
2010
25
Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria. ( 20440648 )
2010
26
Chronic intermittent form of isovaleric acidemia mimicking diabetic ketoacidosis. ( 20662350 )
2010
27
Late onset of isovaleric acidemia presenting with bicytopenia. ( 27263611 )
2010
28
Different outcome in isovaleric acidemia might be related to unsatisfactory diet compliance. ( 18569998 )
2008
29
Induction of oxidative stress by the metabolites accumulating in isovaleric acidemia in brain cortex of young rats. ( 18661426 )
2008
30
Acute decompensation of isovaleric acidemia induced by Graves' disease. ( 18607566 )
2008
31
Genetic mutation profile of isovaleric acidemia patients in Taiwan. ( 17027310 )
2007
32
Stable-isotope dilution measurement of isovalerylglycine by tandem mass spectrometry in newborn screening for isovaleric acidemia. ( 17850781 )
2007
33
Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia. ( 17576084 )
2007
34
Amino-acid depletion induced by abnormal amino-acid conjugation and protein restriction in isovaleric acidemia. ( 17299485 )
2007
35
Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. ( 16602101 )
2006
36
Identification of 19 new metabolites induced by abnormal amino acid conjugation in isovaleric acidemia. ( 16040844 )
2005
37
Isovaleric acidemia diagnosed promptly by tandem mass spectrometry: report of one case. ( 15624372 )
2004
38
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. ( 15486829 )
2004
39
Acute metabolic decompensation in an adult patient with isovaleric acidemia. ( 12911192 )
2003
40
Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene. ( 10677295 )
2000
41
Isovaleric acidemia with promyelocytic myeloproliferative syndrome. ( 10191353 )
1999
42
Isovaleric acidemia. Clinical presentation of 6 cases. ( 9673537 )
1998
43
Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia. ( 9665741 )
1998
44
Malignant ventricular dysrhythmias in a patient with isovaleric acidemia receiving general and local anesthesia for suction lipectomy. ( 9438897 )
1997
45
Isovaleric acidemia: response to a leucine load after three weeks of supplementation with glycine, L-carnitine, and combined glycine-carnitine therapy. ( 8804338 )
1996
46
Effect of carnitine administration on glycine metabolism in patients with isovaleric acidemia: significance of acetylcarnitine determination to estimate the proper carnitine dose. ( 8875766 )
1996
47
Isovaleric acidemia appearing as diabetic ketoacidosis. ( 8830183 )
1996
48
Lessons from the late diagnosis of isovaleric acidemia in a five-year-old boy. ( 8765634 )
1996
49
Liquid chromatographic-atmospheric pressure chemical ionization mass spectrometric analysis of glycine conjugates and urinary isovalerylglycine in isovaleric acidemia. ( 8548022 )
1995
50
Involvement of erythrocyte calpain in glycine- and carnitine-treated isovaleric acidemia. ( 7970932 )
1994

Variations for Isovaleric Acidemia

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

75 (show all 14)
# Symbol AA change Variation ID SNP ID
1 IVD p.Leu42Pro VAR_000423
2 IVD p.Gly199Val VAR_000424
3 IVD p.Arg50Pro VAR_015960
4 IVD p.Asp69Asn VAR_015961
5 IVD p.Ala311Val VAR_015962 rs28940889
6 IVD p.Cys357Arg VAR_015963
7 IVD p.Val371Ala VAR_015964
8 IVD p.Arg392Cys VAR_015965
9 IVD p.Arg411Leu VAR_015966
10 IVD p.Ala94Gly VAR_070061
11 IVD p.Gly120Arg VAR_070062 rs142761835
12 IVD p.Ile196Met VAR_070063
13 IVD p.Leu276Pro VAR_070064
14 IVD p.Tyr400Cys VAR_070065

ClinVar genetic disease variations for Isovaleric Acidemia:

6
(show top 50) (show all 167)
# Gene Variation Type Significance SNP ID Assembly Location
1 IVD IVD, IVS7AS, G-A, -1 single nucleotide variant Pathogenic
2 IVD NM_002225.3(IVD): c.157C> T (p.Arg53Cys) single nucleotide variant Pathogenic rs34695403 GRCh37 Chromosome 15, 40699840: 40699840
3 IVD NM_002225.3(IVD): c.157C> T (p.Arg53Cys) single nucleotide variant Pathogenic rs34695403 GRCh38 Chromosome 15, 40407639: 40407639
4 IVD NM_002225.3(IVD): c.941C> T (p.Ala314Val) single nucleotide variant Pathogenic rs28940889 GRCh37 Chromosome 15, 40707653: 40707653
5 IVD NM_002225.3(IVD): c.941C> T (p.Ala314Val) single nucleotide variant Pathogenic rs28940889 GRCh38 Chromosome 15, 40415454: 40415454
6 IVD NM_002225.3(IVD): c.1141T> C (p.Cys381Arg) single nucleotide variant Likely pathogenic rs398123680 GRCh37 Chromosome 15, 40708555: 40708555
7 IVD NM_002225.3(IVD): c.1141T> C (p.Cys381Arg) single nucleotide variant Likely pathogenic rs398123680 GRCh38 Chromosome 15, 40416356: 40416356
8 IVD NM_002225.3(IVD): c.406_407delTG (p.Cys136Hisfs) deletion Pathogenic/Likely pathogenic rs398123682 GRCh37 Chromosome 15, 40702937: 40702938
9 IVD NM_002225.3(IVD): c.406_407delTG (p.Cys136Hisfs) deletion Pathogenic/Likely pathogenic rs398123682 GRCh38 Chromosome 15, 40410738: 40410739
10 IVD NM_002225.3(IVD): c.465+2T> C single nucleotide variant Pathogenic rs398123683 GRCh37 Chromosome 15, 40702998: 40702998
11 IVD NM_002225.3(IVD): c.465+2T> C single nucleotide variant Pathogenic rs398123683 GRCh38 Chromosome 15, 40410799: 40410799
12 IVD NM_002225.3(IVD): c.507delG (p.Glu169Aspfs) deletion Pathogenic rs398123684 GRCh37 Chromosome 15, 40703500: 40703500
13 IVD NM_002225.3(IVD): c.507delG (p.Glu169Aspfs) deletion Pathogenic rs398123684 GRCh38 Chromosome 15, 40411301: 40411301
14 IVD NM_002225.3(IVD): c.367G> A (p.Gly123Arg) single nucleotide variant Pathogenic/Likely pathogenic rs142761835 GRCh37 Chromosome 15, 40702898: 40702898
15 IVD NM_002225.3(IVD): c.367G> A (p.Gly123Arg) single nucleotide variant Pathogenic/Likely pathogenic rs142761835 GRCh38 Chromosome 15, 40410699: 40410699
16 IVD NM_002225.3(IVD): c.158G> C (p.Arg53Pro) single nucleotide variant Likely pathogenic rs2229311 GRCh38 Chromosome 15, 40407640: 40407640
17 IVD NM_002225.3(IVD): c.158G> C (p.Arg53Pro) single nucleotide variant Likely pathogenic rs2229311 GRCh37 Chromosome 15, 40699841: 40699841
18 IVD NM_002225.3(IVD): c.466-3_466-2delCAinsGG indel Likely pathogenic rs786204427 GRCh38 Chromosome 15, 40411257: 40411258
19 IVD NM_002225.3(IVD): c.466-3_466-2delCAinsGG indel Likely pathogenic rs786204427 GRCh37 Chromosome 15, 40703456: 40703457
20 IVD NM_002225.3(IVD): c.466-2A> G single nucleotide variant Likely pathogenic rs771914739 GRCh38 Chromosome 15, 40411258: 40411258
21 IVD NM_002225.3(IVD): c.466-2A> G single nucleotide variant Likely pathogenic rs771914739 GRCh37 Chromosome 15, 40703457: 40703457
22 IVD NM_002225.3(IVD): c.1188delT (p.Leu397Phefs) deletion Likely pathogenic rs786204613 GRCh38 Chromosome 15, 40418170: 40418170
23 IVD NM_002225.3(IVD): c.1188delT (p.Leu397Phefs) deletion Likely pathogenic rs786204613 GRCh37 Chromosome 15, 40710369: 40710369
24 IVD NM_002225.3(IVD): c.793+1G> A single nucleotide variant Pathogenic rs763471771 GRCh37 Chromosome 15, 40705287: 40705287
25 IVD NM_002225.3(IVD): c.793+1G> A single nucleotide variant Pathogenic rs763471771 GRCh38 Chromosome 15, 40413088: 40413088
26 IVD NM_002225.3(IVD): c.899C> T (p.Ala300Val) single nucleotide variant Likely pathogenic rs796051983 GRCh38 Chromosome 15, 40415412: 40415412
27 IVD NM_002225.3(IVD): c.899C> T (p.Ala300Val) single nucleotide variant Likely pathogenic rs796051983 GRCh37 Chromosome 15, 40707611: 40707611
28 IVD NM_002225.3(IVD): c.1252G> A (p.Gly418Ser) single nucleotide variant Uncertain significance rs150855952 GRCh38 Chromosome 15, 40418234: 40418234
29 IVD NM_002225.3(IVD): c.1252G> A (p.Gly418Ser) single nucleotide variant Uncertain significance rs150855952 GRCh37 Chromosome 15, 40710433: 40710433
30 IVD NM_002225.3(IVD): c.*14C> T single nucleotide variant Benign/Likely benign rs8040294 GRCh37 Chromosome 15, 40710476: 40710476
31 IVD NM_002225.3(IVD): c.*14C> T single nucleotide variant Benign/Likely benign rs8040294 GRCh38 Chromosome 15, 40418277: 40418277
32 IVD NM_002225.3(IVD): c.97C> T (p.His33Tyr) single nucleotide variant Benign/Likely benign rs73383128 GRCh37 Chromosome 15, 40698116: 40698116
33 IVD NM_002225.3(IVD): c.97C> T (p.His33Tyr) single nucleotide variant Benign/Likely benign rs73383128 GRCh38 Chromosome 15, 40405915: 40405915
34 IVD NM_002225.3(IVD): c.1117C> T (p.Gln373Ter) single nucleotide variant Pathogenic rs368705240 GRCh37 Chromosome 15, 40708531: 40708531
35 IVD NM_002225.3(IVD): c.1117C> T (p.Gln373Ter) single nucleotide variant Pathogenic rs368705240 GRCh38 Chromosome 15, 40416332: 40416332
36 IVD NM_002225.3(IVD): c.-79C> G single nucleotide variant Likely benign rs574064968 GRCh38 Chromosome 15, 40405740: 40405740
37 IVD NM_002225.3(IVD): c.-79C> G single nucleotide variant Likely benign rs574064968 GRCh37 Chromosome 15, 40697941: 40697941
38 IVD NM_002225.3(IVD): c.173A> T (p.Lys58Met) single nucleotide variant Uncertain significance rs145999491 GRCh38 Chromosome 15, 40407655: 40407655
39 IVD NM_002225.3(IVD): c.173A> T (p.Lys58Met) single nucleotide variant Uncertain significance rs145999491 GRCh37 Chromosome 15, 40699856: 40699856
40 IVD NM_002225.3(IVD): c.473G> A (p.Ser158Asn) single nucleotide variant Uncertain significance rs140182461 GRCh38 Chromosome 15, 40411267: 40411267
41 IVD NM_002225.3(IVD): c.473G> A (p.Ser158Asn) single nucleotide variant Uncertain significance rs140182461 GRCh37 Chromosome 15, 40703466: 40703466
42 IVD NM_002225.3(IVD): c.793+13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs369694967 GRCh38 Chromosome 15, 40413100: 40413100
43 IVD NM_002225.3(IVD): c.793+13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs369694967 GRCh37 Chromosome 15, 40705299: 40705299
44 IVD NM_002225.3(IVD): c.*204T> G single nucleotide variant Uncertain significance rs886051127 GRCh38 Chromosome 15, 40418467: 40418467
45 IVD NM_002225.3(IVD): c.*204T> G single nucleotide variant Uncertain significance rs886051127 GRCh37 Chromosome 15, 40710666: 40710666
46 IVD NM_002225.3(IVD): c.*261G> A single nucleotide variant Benign rs2075624 GRCh38 Chromosome 15, 40418524: 40418524
47 IVD NM_002225.3(IVD): c.*261G> A single nucleotide variant Benign rs2075624 GRCh37 Chromosome 15, 40710723: 40710723
48 IVD NM_002225.3(IVD): c.*290dupT duplication Uncertain significance rs886051128 GRCh38 Chromosome 15, 40418553: 40418553
49 IVD NM_002225.3(IVD): c.*290dupT duplication Uncertain significance rs886051128 GRCh37 Chromosome 15, 40710752: 40710752
50 IVD NM_002225.3(IVD): c.*808C> G single nucleotide variant Benign rs2075625 GRCh38 Chromosome 15, 40419071: 40419071

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:

37
# Name Kegg Source Accession
1 Valine, leucine and isoleucine degradation hsa00280

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 9.5 ACAD8 ACADS ACADSB CPS1 GLYAT HMGCL
2 mitochondrial matrix GO:0005759 9.17 ACAD8 ACADS ACADSB CPS1 GLYAT HMGCL

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.67 ACAD8 ACADS ACADSB IVD
2 lipid metabolic process GO:0006629 9.56 ACAD8 ACADS ACADSB HMGCL
3 response to toxic substance GO:0009636 9.48 CPS1 GLYAT
4 liver development GO:0001889 9.46 CPS1 HMGCL
5 response to starvation GO:0042594 9.43 CPS1 HMGCL
6 acyl-CoA metabolic process GO:0006637 9.4 GLYAT HMGCL
7 metabolic process GO:0008152 9.35 ACAD8 ACADS ACADSB CPS1 IVD
8 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.32 ACADS IVD
9 leucine catabolic process GO:0006552 9.16 HMGCL IVD
10 branched-chain amino acid catabolic process GO:0009083 8.8 ACAD8 ACADSB IVD

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.56 ACAD8 ACADS ACADSB IVD
2 acyl-CoA dehydrogenase activity GO:0003995 9.33 ACAD8 ACADS ACADSB
3 flavin adenine dinucleotide binding GO:0050660 9.26 ACAD8 ACADS ACADSB IVD
4 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 8.92 ACAD8 ACADS ACADSB IVD

Sources for Isovaleric Acidemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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