IVA
MCID: ISV001
MIFTS: 54

Isovaleric Acidemia (IVA)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Isovaleric Acidemia

MalaCards integrated aliases for Isovaleric Acidemia:

Name: Isovaleric Acidemia 57 12 20 43 58 72 36 13 54 15 39
Isovaleric Acid Coa Dehydrogenase Deficiency 57 12 20 58 72
Isovaleryl-Coa Dehydrogenase Deficiency 12 43 29 6 70
Ivd Deficiency 57 20 43 72
Iva 57 20 43 72
Acidemia, Isovaleric 73 44
Isovaleric Acid-Coa Dehydrogenase Deficiency 43
Isovaleryl Coa Carboxylase Deficiency 20
Isovaleric Aciduria 12

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 243500
KEGG 36 H00173
NCIt 50 C98964
SNOMED-CT 67 87827003
ICD10 32 E71.110
MESH via Orphanet 45 C538167
ICD10 via Orphanet 33 E71.1
UMLS via Orphanet 71 C0268575
Orphanet 58 ORPHA33
UMLS 70 C0268575

Summaries for Isovaleric Acidemia

MedlinePlus Genetics : 43 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 acyl-coa dehydrogenase deficiency, 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. 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.

GARD : 20 Isovaleric acidemia (IVA) occurs when the body cannot breakdown certain parts of the proteins found in food. This can cause a build-up of toxic substances which can lead to bouts of serious illness known as metabolic crises. There are two types of IVA. The acute, neonatal type has more severe symptoms that begin in the newborn period. In the chronic, intermittent type symptoms appear during childhood and can come and go. Symptoms include poor feeding, tremor, vomiting, low muscle tone, and lack of energy (lethargy). These may get worse over time and lead to coma and possibly death. One characteristic sign of IVA is an odor of sweaty feet during illness. IVA occurs due to variants in the IVD gene and is inherited in an autosomal recessive pattern. Diagnosis of IVD is based on the symptoms, clinical exam, and blood and urine testing. The results of genetic testing may help confirm the diagnosis. Treatment is focused on managing the symptoms and involves a special protein-restricted diet and medications that rid the body of excess isovaleric acid.

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) (Updated 05-Apr-2021)

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 : 72 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 : 73 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 271)
# Related Disease Score Top Affiliating Genes
1 carbonic anhydrase va deficiency, hyperammonemia due to 31.1 NAGS CPS1
2 acyl-coa dehydrogenase deficiency 30.6 ACADVL ACADSB
3 isolated methylmalonic acidemia 30.1 MMUT MMAA
4 multiple acyl-coa dehydrogenase deficiency 29.8 IVD HADHA ACADVL ACADS
5 multiple carboxylase deficiency 29.7 PCCB HADHA BTD
6 methylmalonic acidemia 29.0 PCCB NAGS MMUT MMAA IVD HADHA
7 organic acidemia 28.9 PCCB NAGS MMUT MMAA IVD BTD
8 propionic acidemia 28.0 PCCB NAGS MMUT MMAA IVD HADHA
9 maple syrup urine disease 28.0 PCCB NAGS MMUT MMAA IVD HADHA
10 mucopolysaccharidosis, type iva 11.8
11 waardenburg syndrome, type 4a 11.2
12 gastrointestinal ulceration, recurrent, with dysfunctional platelets 11.2
13 mucopolysaccharidosis iv 11.1
14 mucopolysaccharidosis, type ivb 10.9
15 torsion dystonia 4 10.9
16 mucopolysaccharidosis-plus syndrome 10.8
17 metabolic acidosis 10.6
18 morquio syndrome 10.5
19 cervical cancer 10.5
20 inherited metabolic disorder 10.5
21 autosomal recessive disease 10.5
22 ocular motor apraxia 10.4
23 pancytopenia 10.4
24 lysosomal storage disease 10.4
25 thymoma, familial 10.4
26 thymoma 10.4
27 diabetes mellitus, ketosis-prone 10.3
28 nasopharyngeal carcinoma 10.3
29 mucopolysaccharidoses 10.3
30 neutropenia 10.3
31 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 10.2 NAGS CPS1
32 suppressor of tumorigenicity 3 10.2
33 bile duct cysts 10.2
34 citrullinemia, type ii, adult-onset 10.2 NAGS CPS1
35 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 10.2 NAGS CPS1
36 squamous cell carcinoma 10.2
37 tyrosinemia, type ii 10.2 NAGS CPS1
38 acute pancreatitis 10.2
39 pancreatitis 10.2
40 aminoacidopathies 10.2
41 pectus carinatum 10.1
42 argininosuccinic aciduria 10.1 NAGS CPS1
43 ovarian cancer 10.1
44 odontoid hypoplasia 10.1
45 argininemia 10.1 NAGS HADHA CPS1
46 3-hydroxyacyl-coa dehydrogenase deficiency 10.1 HADHA ACADVL
47 orotic aciduria 10.1 NAGS CPS1
48 hydronephrosis 10.1
49 thymic carcinoma 10.1
50 dysphagia 10.1

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 coma 31 HP:0001259
12 pancytopenia 31 HP:0001876
13 leukopenia 31 HP:0001882
14 ketoacidosis 31 HP:0001993
15 hyperglycinuria 31 HP:0003108

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

UMLS symptoms related to Isovaleric Acidemia:


seizures; vomiting; lethargy

MGI Mouse Phenotypes related to Isovaleric Acidemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.1 ACADS BTD DHTKD1 HADHA MMUT PCCB

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:

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

Publications for Isovaleric Acidemia

Articles related to Isovaleric Acidemia:

(show top 50) (show all 230)
# 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. 61 57 6
15486829 2004
2
Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia. 61 57 6
2063866 1991
3
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia. 6 61
27904153 2017
4
Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia. 6 61
26018748 2015
5
Angelman syndrome and isovaleric acidemia: What is the link? 6 61
26937393 2015
6
Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia. 61 6
25220015 2014
7
Isovaleric acidemia presenting as diabetic ketoacidosis: a case report. 61 6
24637313 2014
8
Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant. 6 61
23587913 2013
9
Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene. 61 6
22960500 2012
10
Clinical variability of isovaleric acidemia in a genetically homogeneous population. 6 61
22350545 2012
11
Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia. 61 6
22004070 2011
12
[Clinical and mutational study of a Chinese infant with isovaleric acidemia]. 61 6
19099814 2008
13
Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia. 61 6
17576084 2007
14
Genetic mutation profile of isovaleric acidemia patients in Taiwan. 61 6
17027310 2007
15
Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. 6 61
16602101 2006
16
Mitochondrial import and processing of wild type and type III mutant isovaleryl-CoA dehydrogenase. 61 6
10713113 2000
17
Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene. 61 6
10677295 2000
18
Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia. 6 61
9665741 1998
19
The variant human isovaleryl-CoA dehydrogenase gene responsible for type II isovaleric acidemia determines an RNA splicing error, leading to the deletion of the entire second coding exon and the production of a truncated precursor protein that interacts poorly with mitochondrial import receptors. 61 6
1310317 1992
20
Nucleotide sequence of messenger RNA encoding human isovaleryl-coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts. 6 61
2318964 1990
21
The treatment of isovaleric acidemia with glycine supplement. 57 61
3137519 1988
22
Molecular heterogeneity of variant isovaleryl-CoA dehydrogenase from cultured isovaleric acidemia fibroblasts. 61 57
3863140 1985
23
Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts. 57 61
6630517 1983
24
Cerebellar hemorrhage complicating isovaleric acidemia: a case report. 57 61
7195490 1981
25
The pancytopenia of isovaleric acidemia. 61 57
7367115 1980
26
Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia. 57 61
6928646 1980
27
Isovaleric acidemia: use of glycine therapy in neonates. 57 61
692626 1978
28
Isovaleric acidemia: identification of isovalerate, isovalerylglycine, and 3-hydroxyisovalerate in urine of a patient previously reported as having butyric and hexanoic acidemia. 57 61
4684367 1973
29
Identification of beta-hydroxyisovaleric acid in the urine of a patient with isovaleric acidemia. 57 61
5656832 1968
30
Isovaleric acidemia. Clinical features of a new genetic defect of leucine metabolism. 57 61
4378266 1967
31
Isovaleric acidemia. 61 57
6015910 1967
32
Isovaleric acidemia: a new genetic defect of leucine metabolism. 57 61
5229850 1966
33
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia. 6
27629047 2016
34
Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates. 6
24516753 2014
35
A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia. 6
20519759 2010
36
Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. 57
20142522 2010
37
An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. 6
16825284 2006
38
Thermal unfolding of medium-chain acyl-CoA dehydrogenase and iso(3)valeryl-CoA dehydrogenase: study of the effect of genetic defects on enzyme stability. 6
15337167 2004
39
A Scandinavian case of isovaleric acidaemia. 57
3139936 1988
40
The response to L-carnitine and glycine therapy in isovaleric acidaemia. 57
3956533 1986
41
Two sisters with isovaleric acidaemia, multiple attacks of ketoacidosis and normal development. 57
477679 1979
42
Neonatal death associated with isovalericacidaemia. 57
4166104 1967
43
An inborn error of short-chain fatty acid metabolism. The odor-of-sweaty-feet syndrome. 57
6016812 1967
44
2-methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screen. 61 54
17393751 2007
45
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
46
[Isovaleric acidemia due to compound heterozygous variants of IVD gene in a case]. 61
33565069 2021
47
[The Newborn Screening Program in Italy: Comparison with Europe and other Countries.] 61
33496274 2021
48
Neonatal isovaleric acidemia in China: A case report and review of literature. 61
33521113 2021
49
Evaluation of a Common Internal Standard Material to Reduce Inter-Laboratory Variation and Ensure the Quality, Safety and Efficacy of Expanded Newborn Screening Results When Using Flow Injection Analysis Tandem Mass Spectrometry with Internal Calibration. 61
33228114 2020
50
[Screening and clinical analysis of isovaleric acidemia newborn in Zhejiang province]. 61
33210480 2020

Variations for Isovaleric Acidemia

ClinVar genetic disease variations for Isovaleric Acidemia:

6 (show top 50) (show all 224)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IVD NM_002225.5(IVD):c.456+2T>C SNV Pathogenic 94055 rs398123683 GRCh37: 15:40702998-40702998
GRCh38: 15:40410799-40410799
2 IVD NM_002225.5(IVD):c.498del (p.Glu166fs) Deletion Pathogenic 94056 rs398123684 GRCh37: 15:40703500-40703500
GRCh38: 15:40411301-40411301
3 IVD NM_002225.5(IVD):c.381del (p.Ala128fs) Deletion Pathogenic 459924 rs769048174 GRCh37: 15:40702921-40702921
GRCh38: 15:40410722-40410722
4 IVD NM_002225.5(IVD):c.870dup (p.Pro291fs) Duplication Pathogenic 459932 rs759159766 GRCh37: 15:40707167-40707168
GRCh38: 15:40414968-40414969
5 IVD NM_002225.5(IVD):c.1175G>A (p.Arg392His) SNV Pathogenic 623383 rs982218848 GRCh37: 15:40710365-40710365
GRCh38: 15:40418166-40418166
6 IVD NM_002225.5(IVD):c.784+1G>A SNV Pathogenic 198480 rs763471771 GRCh37: 15:40705287-40705287
GRCh38: 15:40413088-40413088
7 IVD NM_002225.5(IVD):c.243G>A (p.Trp81Ter) SNV Pathogenic 653100 rs540375168 GRCh37: 15:40700146-40700146
GRCh38: 15:40407947-40407947
8 IVD NM_002225.5(IVD):c.1009C>G (p.Arg337Gly) SNV Pathogenic 803067 rs776608445 GRCh37: 15:40708325-40708325
GRCh38: 15:40416126-40416126
9 IVD NM_002225.5(IVD):c.1206del (p.Ile402fs) Deletion Pathogenic 803068 rs1595797766 GRCh37: 15:40710396-40710396
GRCh38: 15:40418197-40418197
10 IVD NM_002225.5(IVD):c.1231C>T (p.Arg411Trp) SNV Pathogenic 803069 rs1237032588 GRCh37: 15:40710421-40710421
GRCh38: 15:40418222-40418222
11 IVD NC_000015.9:g.(?_40698000)_(40700209_?)del Deletion Pathogenic 830632 GRCh37: 15:40698000-40700209
GRCh38:
12 IVD NC_000015.10:g.(?_40418110)_(40418283_?)del Deletion Pathogenic 830813 GRCh37: 15:40710309-40710482
GRCh38:
13 IVD NM_002225.5(IVD):c.1069_1070TG[1] (p.Ala358fs) Microsatellite Pathogenic 844890 GRCh37: 15:40708492-40708493
GRCh38: 15:40416293-40416294
14 IVD NM_002225.5(IVD):c.61_67del (p.Leu21fs) Deletion Pathogenic 851748 GRCh37: 15:40698085-40698091
GRCh38: 15:40405884-40405890
15 IVD NM_002225.5(IVD):c.870del (p.Pro291fs) Deletion Pathogenic 854919 GRCh37: 15:40707168-40707168
GRCh38: 15:40414969-40414969
16 IVD NM_002225.5(IVD):c.199G>T (p.Glu67Ter) SNV Pathogenic 957638 GRCh37: 15:40699891-40699891
GRCh38: 15:40407690-40407690
17 IVD NM_002225.5(IVD):c.232C>T (p.Arg78Ter) SNV Pathogenic 370807 rs765815516 GRCh37: 15:40699924-40699924
GRCh38: 15:40407723-40407723
18 IVD NM_002225.5(IVD):c.1174C>T (p.Arg392Cys) SNV Pathogenic 265202 rs371427844 GRCh37: 15:40710364-40710364
GRCh38: 15:40418165-40418165
19 IVD NM_002225.5(IVD):c.932C>T (p.Ala311Val) SNV Pathogenic 100060 rs28940889 GRCh37: 15:40707653-40707653
GRCh38: 15:40415454-40415454
20 IVD NM_002225.5(IVD):c.149G>C (p.Arg50Pro) SNV Pathogenic/Likely pathogenic 188922 rs2229311 GRCh37: 15:40699841-40699841
GRCh38: 15:40407640-40407640
21 IVD NM_002225.5(IVD):c.550+1G>A SNV Pathogenic/Likely pathogenic 372389 rs377147994 GRCh37: 15:40703553-40703553
GRCh38: 15:40411354-40411354
22 IVD NM_002225.5(IVD):c.358G>A (p.Gly120Arg) SNV Pathogenic/Likely pathogenic 167199 rs142761835 GRCh37: 15:40702898-40702898
GRCh38: 15:40410699-40410699
23 IVD NM_002225.5(IVD):c.960G>T (p.Gln320His) SNV Pathogenic/Likely pathogenic 627426 rs367814475 GRCh37: 15:40707681-40707681
GRCh38: 15:40415482-40415482
24 IVD NM_002225.5(IVD):c.1183C>T (p.Arg395Ter) SNV Pathogenic/Likely pathogenic 571005 rs398123681 GRCh37: 15:40710373-40710373
GRCh38: 15:40418174-40418174
25 IVD NM_002225.5(IVD):c.599del (p.Pro200fs) Deletion Pathogenic/Likely pathogenic 587624 rs1566936542 GRCh37: 15:40703800-40703800
GRCh38: 15:40411601-40411601
26 IVD NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys) SNV Pathogenic/Likely pathogenic 371390 rs773560012 GRCh37: 15:40710389-40710389
GRCh38: 15:40418190-40418190
27 IVD NM_002225.5(IVD):c.102_103del (p.Val35fs) Deletion Pathogenic/Likely pathogenic 371578 rs1057517379 GRCh37: 15:40698130-40698131
GRCh38: 15:40405929-40405930
28 IVD NM_002225.5(IVD):c.149G>A (p.Arg50His) SNV Pathogenic/Likely pathogenic 370843 rs2229311 GRCh37: 15:40699841-40699841
GRCh38: 15:40407640-40407640
29 IVD NM_002225.5(IVD):c.457-3_457-2delinsGG Indel Pathogenic/Likely pathogenic 188724 rs786204427 GRCh37: 15:40703456-40703457
GRCh38: 15:40411257-40411258
30 IVD NM_002225.5(IVD):c.1179del (p.Leu394fs) Deletion Pathogenic/Likely pathogenic 188993 rs786204613 GRCh37: 15:40710369-40710369
GRCh38: 15:40418168-40418168
31 IVD NM_002225.5(IVD):c.397_398del (p.Cys133fs) Deletion Likely pathogenic 94054 rs398123682 GRCh37: 15:40702937-40702938
GRCh38: 15:40410738-40410739
32 IVD NM_002225.5(IVD):c.144+1G>A SNV Likely pathogenic 370705 rs928991928 GRCh37: 15:40698173-40698173
GRCh38: 15:40405972-40405972
33 IVD NM_002225.5(IVD):c.961-2A>G SNV Likely pathogenic 371161 rs1057517056 GRCh37: 15:40708275-40708275
GRCh38: 15:40416076-40416076
34 IVD NM_002225.5(IVD):c.551-1G>A SNV Likely pathogenic 371148 rs1057517043 GRCh37: 15:40703753-40703753
GRCh38: 15:40411554-40411554
35 IVD NM_002225.5(IVD):c.456+22_510delinsGTTG Indel Likely pathogenic 459929 rs1555403942 GRCh37: 15:40703018-40703512
GRCh38: 15:40410819-40411313
36 IVD NM_002225.5(IVD):c.349C>T (p.Arg117Ter) SNV Likely pathogenic 551222 rs776015412 GRCh37: 15:40702889-40702889
GRCh38: 15:40410690-40410690
37 IVD NM_002225.5(IVD):c.1229_1256del (p.Arg410fs) Deletion Likely pathogenic 551276 rs1555405428 GRCh37: 15:40710418-40710445
GRCh38: 15:40418219-40418246
38 IVD NM_002225.5(IVD):c.-8T>C SNV Likely pathogenic 551816 rs566691073 GRCh37: 15:40698021-40698021
GRCh38: 15:40405820-40405820
39 IVD NM_002225.5(IVD):c.878+1G>A SNV Likely pathogenic 552128 rs745629936 GRCh37: 15:40707182-40707182
GRCh38: 15:40414983-40414983
40 IVD NM_002225.5(IVD):c.974del (p.Lys325fs) Deletion Likely pathogenic 552711 rs1555405070 GRCh37: 15:40708289-40708289
GRCh38: 15:40416090-40416090
41 IVD NM_002225.5(IVD):c.-9A>T SNV Likely pathogenic 552811 rs373594717 GRCh37: 15:40698020-40698020
GRCh38: 15:40405819-40405819
42 IVD NM_002225.5(IVD):c.994del (p.Arg332fs) Deletion Likely pathogenic 553143 rs1555405080 GRCh37: 15:40708308-40708308
GRCh38: 15:40416109-40416109
43 IVD NM_002225.5(IVD):c.44G>A (p.Trp15Ter) SNV Likely pathogenic 550517 rs907414760 GRCh37: 15:40698072-40698072
GRCh38: 15:40405871-40405871
44 IVD NM_002225.5(IVD):c.711dup (p.Lys238Ter) Duplication Likely pathogenic 550667 rs1555404426 GRCh37: 15:40705212-40705213
GRCh38: 15:40413013-40413014
45 IVD NM_002225.5(IVD):c.157_160dup (p.Ala54fs) Duplication Likely pathogenic 550930 rs1555403211 GRCh37: 15:40699848-40699849
GRCh38: 15:40407647-40407648
46 IVD NM_002225.5(IVD):c.785-1G>A SNV Likely pathogenic 557485 rs1555404784 GRCh37: 15:40707087-40707087
GRCh38: 15:40414888-40414888
47 IVD NM_002225.5(IVD):c.961-1G>T SNV Likely pathogenic 558117 rs1555405067 GRCh37: 15:40708276-40708276
GRCh38: 15:40416077-40416077
48 IVD NC_000015.10:g.(?_40412971)_(40418283_?)del Deletion Likely pathogenic 645877 GRCh37: 15:40705170-40710482
GRCh38: 15:40412971-40418283
49 IVD NC_000015.10:g.(?_40416068)_(40418273_?)del Deletion Likely pathogenic 832321 GRCh37: 15:40708267-40710472
GRCh38:
50 IVD NC_000015.10:g.(?_40416058)_(40418283_?)del Deletion Likely pathogenic 833205 GRCh37: 15:40708257-40710482
GRCh38:

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

72 (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
12.05 PCCB NAGS MMUT 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
11.09 HADHA ACADS
13 11.09 PCCB MMUT HADHA BCKDHB ACADS
14 11.03 PCCB MMUT
15
Show member pathways
10.98 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 9.85 IVD HADHA ACADVL ACADSB ACADS
2 oxidation-reduction process GO:0055114 9.8 IVD HADHA DHTKD1 BCKDHB ACADVL ACADSB
3 fatty acid metabolic process GO:0006631 9.55 IVD HADHA ACADVL ACADSB ACADS
4 fatty acid beta-oxidation GO:0006635 9.54 HADHA ACADVL ACADS
5 cobalamin metabolic process GO:0009235 9.51 MMUT MMAA
6 branched-chain amino acid catabolic process GO:0009083 9.5 IVD BCKDHB ACADSB
7 nitrogen compound metabolic process GO:0006807 9.49 CPS1 BTD
8 urea cycle GO:0000050 9.48 NAGS CPS1
9 biotin metabolic process GO:0006768 9.43 PCCB BTD
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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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