ACAD9 DEFICIENCY
MCID: MTC151
MIFTS: 29

Mitochondrial Complex I Deficiency, Nuclear Type 20 (ACAD9 DEFICIENCY)

Categories: Cardiovascular diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Nuclear Type 20

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Nuclear Type 20:

Name: Mitochondrial Complex I Deficiency, Nuclear Type 20 58
Acad9 Deficiency 58 26 60 76 13
Acyl-Coa Dehydrogenase 9 Deficiency 58 26 60 38
Mitochondrial Complex I Deficiency Due to Acad9 Deficiency 58 26 76
Acyl-Coa Dehydrogenase Family, Member 9, Deficiency of 30 6 41
Deficiency of Acyl-Coa Dehydrogenase Family Member 9 26
Acyl-Coa Dehydrogenase Family, Member 9, Deficiency 76
Acyl-Coa Dehydrogenase Family, Member 9 13
Mc1dn20 58

Characteristics:

Orphanet epidemiological data:

60
acyl-coa dehydrogenase 9 deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

58
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:

33
mitochondrial complex i deficiency, nuclear type 20:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 20

UniProtKB/Swiss-Prot : 76 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, Nuclear Type 20, is also known as acad9 deficiency, and has symptoms including muscle weakness An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 20 is ACAD9 (Acyl-CoA Dehydrogenase Family Member 9). Affiliated tissues include liver, heart and brain, and related phenotypes are decreased activity of mitochondrial complex i and failure to thrive

Genetics Home Reference : 26 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 : 58 MC1DN20 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 discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010. (611126)

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 20

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Nuclear Type 20

Human phenotypes related to Mitochondrial Complex I Deficiency, Nuclear Type 20:

60 33 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased activity of mitochondrial complex i 60 33 obligate (100%) Obligate (100%) HP:0011923
2 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
3 hypertrophic cardiomyopathy 60 33 frequent (33%) Frequent (79-30%) HP:0001639
4 generalized muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003324
5 congestive heart failure 60 33 frequent (33%) Frequent (79-30%) HP:0001635
6 hepatic steatosis 60 33 frequent (33%) Frequent (79-30%) HP:0001397
7 thrombocytopenia 60 33 frequent (33%) Frequent (79-30%) HP:0001873
8 dilated cardiomyopathy 60 33 frequent (33%) Frequent (79-30%) HP:0001644
9 emg: myopathic abnormalities 60 33 frequent (33%) Frequent (79-30%) HP:0003458
10 increased serum lactate 60 33 frequent (33%) Frequent (79-30%) HP:0002151
11 lactic acidosis 60 33 frequent (33%) Frequent (79-30%) HP:0003128
12 myalgia 60 33 frequent (33%) Frequent (79-30%) HP:0003326
13 increased lactate dehydrogenase activity 60 33 frequent (33%) Frequent (79-30%) HP:0025435
14 hyperammonemia 60 33 frequent (33%) Frequent (79-30%) HP:0001987
15 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
16 encephalopathy 60 33 frequent (33%) Frequent (79-30%) HP:0001298
17 fatigable weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003473
18 elevated creatine kinase after exercise 60 33 frequent (33%) Frequent (79-30%) HP:0008331
19 prolonged prothrombin time 60 33 frequent (33%) Frequent (79-30%) HP:0008151
20 decreased plasma carnitine 60 33 frequent (33%) Frequent (79-30%) HP:0003234
21 elevated plasma acylcarnitine levels 60 33 frequent (33%) Frequent (79-30%) HP:0045045
22 elevated hepatic transaminase 33 frequent (33%) HP:0002910
23 sudden cardiac death 60 33 occasional (7.5%) Occasional (29-5%) HP:0001645
24 acute hepatic failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0006554
25 cerebral edema 60 33 occasional (7.5%) Occasional (29-5%) HP:0002181
26 nonketotic hypoglycemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001958
27 dicarboxylic aciduria 60 33 occasional (7.5%) Occasional (29-5%) HP:0003215
28 cerebellar hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0011695
29 muscle weakness 33 HP:0001324
30 myopathy 60 Frequent (79-30%)
31 hypoglycemia 33 HP:0001943
32 elevated hepatic transaminases 60 Frequent (79-30%)
33 stroke 33 HP:0001297
34 hepatic failure 33 HP:0001399
35 exercise intolerance 33 HP:0003546
36 microvesicular hepatic steatosis 33 HP:0001414

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Mitochondrial Complex I Deficiency, Nuclear Type 20:


muscle weakness

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Nuclear Type 20

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Nuclear Type 20

Genetic Tests for Mitochondrial Complex I Deficiency, Nuclear Type 20

Genetic tests related to Mitochondrial Complex I Deficiency, Nuclear Type 20:

# Genetic test Affiliating Genes
1 Acyl-Coa Dehydrogenase Family, Member 9, Deficiency of 30 ACAD9

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 20

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Nuclear Type 20:

42
Liver, Heart, Brain

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 20

Articles related to Mitochondrial Complex I Deficiency, Nuclear Type 20:

# Title Authors Year
1
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? ( 30025539 )
2018
2
An atypical presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach. ( 28070495 )
2017
3
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency. ( 25721401 )
2015
4
Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency. ( 26475292 )
2015
5
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency. ( 17564966 )
2007

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 20

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 20:

76 (show all 12)
# 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 rs144794718
12 ACAD9 p.Leu606His VAR_076179

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Nuclear Type 20:

6 (show top 50) (show all 90)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACAD9 NM_014049.4(ACAD9): c.379A> C (p.Arg127=) single nucleotide variant Benign rs1680778 GRCh37 Chromosome 3, 128614185: 128614185
2 ACAD9 NM_014049.4(ACAD9): c.379A> C (p.Arg127=) single nucleotide variant Benign rs1680778 GRCh38 Chromosome 3, 128895342: 128895342
3 ACAD9 NM_014049.4(ACAD9): c.1279-7A> G single nucleotide variant Benign rs1683787 GRCh37 Chromosome 3, 128627021: 128627021
4 ACAD9 NM_014049.4(ACAD9): c.1279-7A> G single nucleotide variant Benign rs1683787 GRCh38 Chromosome 3, 128908178: 128908178
5 ACAD9 NM_014049.4(ACAD9): c.152A> T (p.Lys51Ile) single nucleotide variant Uncertain significance rs149931573 GRCh38 Chromosome 3, 128884654: 128884654
6 ACAD9 NM_014049.4(ACAD9): c.152A> T (p.Lys51Ile) single nucleotide variant Uncertain significance rs149931573 GRCh37 Chromosome 3, 128603497: 128603497
7 ACAD9 NM_014049.4(ACAD9): c.442A> G (p.Ile148Val) single nucleotide variant Uncertain significance rs202119704 GRCh37 Chromosome 3, 128614248: 128614248
8 ACAD9 NM_014049.4(ACAD9): c.442A> G (p.Ile148Val) single nucleotide variant Uncertain significance rs202119704 GRCh38 Chromosome 3, 128895405: 128895405
9 ACAD9 NM_014049.4(ACAD9): c.928G> A (p.Val310Ile) single nucleotide variant Uncertain significance rs139073821 GRCh37 Chromosome 3, 128621441: 128621441
10 ACAD9 NM_014049.4(ACAD9): c.928G> A (p.Val310Ile) single nucleotide variant Uncertain significance rs139073821 GRCh38 Chromosome 3, 128902598: 128902598
11 ACAD9 NM_014049.4(ACAD9): c.-44_-41dupTAAG duplication Conflicting interpretations of pathogenicity rs387906242 GRCh37 Chromosome 3, 128598491: 128598494
12 ACAD9 NM_014049.4(ACAD9): c.-44_-41dupTAAG duplication Conflicting interpretations of pathogenicity rs387906242 GRCh38 Chromosome 3, 128879648: 128879651
13 ACAD9 NM_014049.4(ACAD9): c.1249C> T (p.Arg417Cys) single nucleotide variant Pathogenic rs368949613 GRCh37 Chromosome 3, 128625063: 128625063
14 ACAD9 NM_014049.4(ACAD9): c.1249C> T (p.Arg417Cys) single nucleotide variant Pathogenic rs368949613 GRCh38 Chromosome 3, 128906220: 128906220
15 ACAD9 NM_014049.4(ACAD9): c.130T> A (p.Phe44Ile) single nucleotide variant Pathogenic rs387907041 GRCh37 Chromosome 3, 128598664: 128598664
16 ACAD9 NM_014049.4(ACAD9): c.130T> A (p.Phe44Ile) single nucleotide variant Pathogenic rs387907041 GRCh38 Chromosome 3, 128879821: 128879821
17 ACAD9 NM_014049.4(ACAD9): c.797G> A (p.Arg266Gln) single nucleotide variant Pathogenic rs387907042 GRCh37 Chromosome 3, 128618293: 128618293
18 ACAD9 NM_014049.4(ACAD9): c.797G> A (p.Arg266Gln) single nucleotide variant Pathogenic rs387907042 GRCh38 Chromosome 3, 128899450: 128899450
19 ACAD9 NM_014049.4(ACAD9): c.976G> C (p.Ala326Pro) single nucleotide variant Pathogenic rs115532916 GRCh37 Chromosome 3, 128622922: 128622922
20 ACAD9 NM_014049.4(ACAD9): c.976G> C (p.Ala326Pro) single nucleotide variant Pathogenic rs115532916 GRCh38 Chromosome 3, 128904079: 128904079
21 ACAD9 NM_014049.4(ACAD9): c.1594C> T (p.Arg532Trp) single nucleotide variant Likely pathogenic rs377022708 GRCh37 Chromosome 3, 128628894: 128628894
22 ACAD9 NM_014049.4(ACAD9): c.1594C> T (p.Arg532Trp) single nucleotide variant Likely pathogenic rs377022708 GRCh38 Chromosome 3, 128910051: 128910051
23 ACAD9 NM_014049.4(ACAD9): c.787T> C (p.Leu263=) single nucleotide variant Benign/Likely benign rs1979529 GRCh37 Chromosome 3, 128618283: 128618283
24 ACAD9 NM_014049.4(ACAD9): c.787T> C (p.Leu263=) single nucleotide variant Benign/Likely benign rs1979529 GRCh38 Chromosome 3, 128899440: 128899440
25 ACAD9 NM_014049.4(ACAD9): c.976G> A (p.Ala326Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs115532916 GRCh37 Chromosome 3, 128622922: 128622922
26 ACAD9 NM_014049.4(ACAD9): c.976G> A (p.Ala326Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs115532916 GRCh38 Chromosome 3, 128904079: 128904079
27 ACAD9 NM_014049.4(ACAD9): c.1430G> A (p.Arg477Gln) single nucleotide variant Benign/Likely benign rs4494951 GRCh37 Chromosome 3, 128627887: 128627887
28 ACAD9 NM_014049.4(ACAD9): c.1430G> A (p.Arg477Gln) single nucleotide variant Benign/Likely benign rs4494951 GRCh38 Chromosome 3, 128909044: 128909044
29 ACAD9 NM_014049.4(ACAD9): c.-168T> C single nucleotide variant Uncertain significance rs183973851 GRCh38 Chromosome 3, 128879524: 128879524
30 ACAD9 NM_014049.4(ACAD9): c.-168T> C single nucleotide variant Uncertain significance rs183973851 GRCh37 Chromosome 3, 128598367: 128598367
31 ACAD9 NM_014049.4(ACAD9): c.195T> C (p.Asn65=) single nucleotide variant Uncertain significance rs144978857 GRCh38 Chromosome 3, 128884697: 128884697
32 ACAD9 NM_014049.4(ACAD9): c.195T> C (p.Asn65=) single nucleotide variant Uncertain significance rs144978857 GRCh37 Chromosome 3, 128603540: 128603540
33 ACAD9 NM_014049.4(ACAD9): c.1190C> T (p.Ala397Val) single nucleotide variant Uncertain significance rs768894091 GRCh38 Chromosome 3, 128906161: 128906161
34 ACAD9 NM_014049.4(ACAD9): c.1190C> T (p.Ala397Val) single nucleotide variant Uncertain significance rs768894091 GRCh37 Chromosome 3, 128625004: 128625004
35 ACAD9 NM_014049.4(ACAD9): c.1398C> T (p.Thr466=) single nucleotide variant Uncertain significance rs772732061 GRCh38 Chromosome 3, 128909012: 128909012
36 ACAD9 NM_014049.4(ACAD9): c.1398C> T (p.Thr466=) single nucleotide variant Uncertain significance rs772732061 GRCh37 Chromosome 3, 128627855: 128627855
37 ACAD9 NM_014049.4(ACAD9): c.1415G> A (p.Arg472Gln) single nucleotide variant Uncertain significance rs762081272 GRCh38 Chromosome 3, 128909029: 128909029
38 ACAD9 NM_014049.4(ACAD9): c.1415G> A (p.Arg472Gln) single nucleotide variant Uncertain significance rs762081272 GRCh37 Chromosome 3, 128627872: 128627872
39 ACAD9 NM_014049.4(ACAD9): c.1474C> T (p.Pro492Ser) single nucleotide variant Uncertain significance rs886057958 GRCh38 Chromosome 3, 128909088: 128909088
40 ACAD9 NM_014049.4(ACAD9): c.1474C> T (p.Pro492Ser) single nucleotide variant Uncertain significance rs886057958 GRCh37 Chromosome 3, 128627931: 128627931
41 ACAD9 NM_014049.4(ACAD9): c.1675C> A (p.Arg559Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138871762 GRCh38 Chromosome 3, 128910132: 128910132
42 ACAD9 NM_014049.4(ACAD9): c.1675C> A (p.Arg559Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138871762 GRCh37 Chromosome 3, 128628975: 128628975
43 ACAD9 NM_014049.4(ACAD9): c.*31G> A single nucleotide variant Benign rs9830739 GRCh38 Chromosome 3, 128912638: 128912638
44 ACAD9 NM_014049.4(ACAD9): c.*31G> A single nucleotide variant Benign rs9830739 GRCh37 Chromosome 3, 128631481: 128631481
45 ACAD9 NM_014049.4(ACAD9): c.*92A> C single nucleotide variant Uncertain significance rs367762859 GRCh38 Chromosome 3, 128912699: 128912699
46 ACAD9 NM_014049.4(ACAD9): c.*92A> C single nucleotide variant Uncertain significance rs367762859 GRCh37 Chromosome 3, 128631542: 128631542
47 ACAD9 NM_014049.4(ACAD9): c.-91G> T single nucleotide variant Uncertain significance rs749695064 GRCh38 Chromosome 3, 128879601: 128879601
48 ACAD9 NM_014049.4(ACAD9): c.-91G> T single nucleotide variant Uncertain significance rs749695064 GRCh37 Chromosome 3, 128598444: 128598444
49 ACAD9 NM_014049.4(ACAD9): c.346+15delC deletion Uncertain significance rs886057956 GRCh38 Chromosome 3, 128893671: 128893671
50 ACAD9 NM_014049.4(ACAD9): c.346+15delC deletion Uncertain significance rs886057956 GRCh37 Chromosome 3, 128612514: 128612514

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 20

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Pathways for Mitochondrial Complex I Deficiency, Nuclear Type 20

GO Terms for Mitochondrial Complex I Deficiency, Nuclear Type 20

Sources for Mitochondrial Complex I Deficiency, Nuclear Type 20

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