MCID: MTC107
MIFTS: 27

Mitochondrial Complex I Deficiency Due to Acad9 Deficiency

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency Due to Acad9 Deficiency

MalaCards integrated aliases for Mitochondrial Complex I Deficiency Due to Acad9 Deficiency:

Name: Mitochondrial Complex I Deficiency Due to Acad9 Deficiency 53 24 71
Acad9 Deficiency 53 24 55 71 13
Acyl-Coa Dehydrogenase 9 Deficiency 53 24 55
Acyl-Coa Dehydrogenase Family, Member 9, Deficiency of 28 69
Deficiency of Acyl-Coa Dehydrogenase Family Member 9 24
Acyl-Coa Dehydrogenase Family, Member 9, Deficiency 71
Acyl-Coa Dehydrogenase Family, Member 9 13

Characteristics:

Orphanet epidemiological data:

55
acyl-coa dehydrogenase 9 deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset usually in infancy
clinical presentation varies
onset may be precipitated by viral infection, reye-like episode following ingestion of aspirin
favorable response to treatment with riboflavin


HPO:

31
mitochondrial complex i deficiency due to acad9 deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Inborn errors of metabolism


Summaries for Mitochondrial Complex I Deficiency Due to Acad9 Deficiency

UniProtKB/Swiss-Prot : 71 Acyl-CoA dehydrogenase family, member 9, deficiency: An autosomal recessive metabolic disorder associated with mitochondrial complex I deficiency, resulting in multisystemic and variable manifestations. Clinical features include infantile onset of acute metabolic acidosis, Reye-like episodes (brain edema and vomiting that may rapidly progress to seizures, coma and death), exercise intolerance, hypertrophic cardiomyopathy, liver failure, muscle weakness, and neurologic dysfunction.

MalaCards based summary : Mitochondrial Complex I Deficiency Due to Acad9 Deficiency, is also known as acad9 deficiency, and has symptoms including hypertrophic cardiomyopathy, congestive heart failure and elevated hepatic transaminases. An important gene associated with Mitochondrial Complex I Deficiency Due to Acad9 Deficiency is ACAD9 (Acyl-CoA Dehydrogenase Family Member 9). Affiliated tissues include liver, heart and brain.

Genetics Home Reference : 24 ACAD9 deficiency is a condition that varies in severity and can cause muscle weakness (myopathy), heart problems, and intellectual disability. Nearly all affected individuals have a buildup of a chemical called lactic acid in the body (lactic acidosis). Additional signs and symptoms that affect other body systems occur in rare cases.

OMIM : 53 ACAD9 deficiency is an autosomal recessive multisystem disorder characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with a deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts (summary by Haack et al., 2010). For a general description and a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010. (611126)

Related Diseases for Mitochondrial Complex I Deficiency Due to Acad9 Deficiency

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency Due to Acad9 Deficiency

Symptoms via clinical synopsis from OMIM:

53
Muscle Soft Tissue:
muscle weakness
exercise intolerance
hypotonia
decreased mitochondrial complex i activity

Laboratory Abnormalities:
hypoglycemia
elevated lactate dehydrogenase
elevated liver transaminases
elevated plasma ammonia
elevated serum lactate
more
Hematology:
thrombocytopenia

Abdomen Liver:
microvesicular steatosis
liver failure
decreased mitochondrial complex i activity

Metabolic Features:
hypoglycemia
lactic acidosis
reye-like episode

Cardiovascular Heart:
congestive heart failure
cardiomyopathy, dilated
cardiomyopathy, hypertrophic

Neurologic Central Nervous System:
cerebral edema
encephalopathy
cerebellar stroke


Clinical features from OMIM:

611126

Human phenotypes related to Mitochondrial Complex I Deficiency Due to Acad9 Deficiency:

55 31 (showing 35, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 55 31 Frequent (79-30%) HP:0001639
2 congestive heart failure 55 31 Frequent (79-30%) HP:0001635
3 elevated hepatic transaminases 55 31 Frequent (79-30%) HP:0002910
4 thrombocytopenia 55 31 Frequent (79-30%) HP:0001873
5 lactic acidosis 55 31 Frequent (79-30%) HP:0003128
6 cerebral edema 55 31 Occasional (29-5%) HP:0002181
7 encephalopathy 55 31 Frequent (79-30%) HP:0001298
8 dilated cardiomyopathy 55 31 Frequent (79-30%) HP:0001644
9 generalized hypotonia 55 31 Frequent (79-30%) HP:0001290
10 dicarboxylic aciduria 55 31 occasional (7.5%) Occasional (29-5%) HP:0003215
11 myalgia 55 Frequent (79-30%)
12 muscle weakness 31 HP:0001324
13 generalized muscle weakness 55 Frequent (79-30%)
14 failure to thrive 55 Frequent (79-30%)
15 sudden cardiac death 55 Occasional (29-5%)
16 myopathy 55 Frequent (79-30%)
17 hypoglycemia 31 HP:0001943
18 hepatic steatosis 55 Frequent (79-30%)
19 increased serum lactate 55 Frequent (79-30%)
20 acute hepatic failure 55 Occasional (29-5%)
21 stroke 31 HP:0001297
22 hepatic failure 31 HP:0001399
23 hyperammonemia 55 Frequent (79-30%)
24 exercise intolerance 31 HP:0003546
25 fatigable weakness 55 Frequent (79-30%)
26 elevated creatine kinase after exercise 55 Frequent (79-30%)
27 prolonged prothrombin time 55 Frequent (79-30%)
28 emg: myopathic abnormalities 55 Frequent (79-30%)
29 nonketotic hypoglycemia 55 Occasional (29-5%)
30 microvesicular hepatic steatosis 31 HP:0001414
31 increased lactate dehydrogenase activity 55 Frequent (79-30%)
32 decreased plasma carnitine 55 Frequent (79-30%)
33 elevated plasma acylcarnitine levels 55 Frequent (79-30%)
34 cerebellar hemorrhage 55 Occasional (29-5%)
35 decreased activity of mitochondrial complex i 55 Obligate (100%)

UMLS symptoms related to Mitochondrial Complex I Deficiency Due to Acad9 Deficiency:


muscle weakness

Drugs & Therapeutics for Mitochondrial Complex I Deficiency Due to Acad9 Deficiency

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency Due to Acad9 Deficiency

Genetic Tests for Mitochondrial Complex I Deficiency Due to Acad9 Deficiency

Genetic tests related to Mitochondrial Complex I Deficiency Due to Acad9 Deficiency:

# Genetic test Affiliating Genes
1 Acyl-Coa Dehydrogenase Family, Member 9, Deficiency of 28 ACAD9

Anatomical Context for Mitochondrial Complex I Deficiency Due to Acad9 Deficiency

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency Due to Acad9 Deficiency:

38
Liver, Heart, Brain

Publications for Mitochondrial Complex I Deficiency Due to Acad9 Deficiency

Articles related to Mitochondrial Complex I Deficiency Due to Acad9 Deficiency:

(showing 2, show less)
# Title Authors Year
1
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency. ( 25721401 )
2015
2
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency. ( 17564966 )
2007

Variations for Mitochondrial Complex I Deficiency Due to Acad9 Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency Due to Acad9 Deficiency:

71 (showing 12, show less)
# Symbol AA change Variation ID SNP ID
1 ACAD9 p.Phe44Ile VAR_071892 rs387907041
2 ACAD9 p.Arg127Lys VAR_071893
3 ACAD9 p.Ala220Val VAR_071895
4 ACAD9 p.Arg266Gln VAR_071897 rs387907042
5 ACAD9 p.Arg414Cys VAR_071901 rs777282696
6 ACAD9 p.Arg417Cys VAR_071902 rs368949613
7 ACAD9 p.Arg469Trp VAR_071903 rs139145143
8 ACAD9 p.Arg518His VAR_071904 rs781149699
9 ACAD9 p.Arg532Trp VAR_071905 rs377022708
10 ACAD9 p.Cys271Gly VAR_076177
11 ACAD9 p.Val384Met VAR_076178
12 ACAD9 p.Leu606His VAR_076179

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency Due to Acad9 Deficiency:

6 (showing 7, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACAD9 NM_014049.4(ACAD9): c.1249C> T (p.Arg417Cys) single nucleotide variant Pathogenic rs368949613 GRCh37 Chromosome 3, 128625063: 128625063
2 ACAD9 NM_014049.4(ACAD9): c.130T> A (p.Phe44Ile) single nucleotide variant Pathogenic rs387907041 GRCh37 Chromosome 3, 128598664: 128598664
3 ACAD9 NM_014049.4(ACAD9): c.797G> A (p.Arg266Gln) single nucleotide variant Pathogenic rs387907042 GRCh37 Chromosome 3, 128618293: 128618293
4 ACAD9 NM_014049.4(ACAD9): c.976G> C (p.Ala326Pro) single nucleotide variant Pathogenic rs115532916 GRCh37 Chromosome 3, 128622922: 128622922
5 ACAD9 NM_014049.4(ACAD9): c.1594C> T (p.Arg532Trp) single nucleotide variant Pathogenic/Likely pathogenic rs377022708 GRCh37 Chromosome 3, 128628894: 128628894
6 ACAD9 NR_033426.1(ACAD9): n.887C> T single nucleotide variant Pathogenic rs762521317 GRCh38 Chromosome 3, 128896491: 128896491
7 ACAD9 NM_014049.4(ACAD9): c.1687C> G (p.His563Asp) single nucleotide variant Pathogenic rs1057518752 GRCh37 Chromosome 3, 128628987: 128628987

Expression for Mitochondrial Complex I Deficiency Due to Acad9 Deficiency

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency Due to Acad9 Deficiency.

Pathways for Mitochondrial Complex I Deficiency Due to Acad9 Deficiency

GO Terms for Mitochondrial Complex I Deficiency Due to Acad9 Deficiency

Sources for Mitochondrial Complex I Deficiency Due to Acad9 Deficiency

3 CDC
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65 SNOMED-CT via HPO
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70 UMLS via Orphanet
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