MCID: MTC107
MIFTS: 28

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 57 25 75
Acad9 Deficiency 57 25 59 75 13
Acyl-Coa Dehydrogenase Family, Member 9, Deficiency of 29 6 40 73
Acyl-Coa Dehydrogenase 9 Deficiency 57 25 59 37
Deficiency of Acyl-Coa Dehydrogenase Family Member 9 25
Acyl-Coa Dehydrogenase Family, Member 9, Deficiency 75
Acyl-Coa Dehydrogenase Family, Member 9 13

Characteristics:

Orphanet epidemiological data:

59
acyl-coa dehydrogenase 9 deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
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:

32
mitochondrial complex i deficiency due to acad9 deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


Summaries for Mitochondrial Complex I Deficiency Due to Acad9 Deficiency

UniProtKB/Swiss-Prot : 75 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 muscle weakness 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, and related phenotypes are failure to thrive and sudden cardiac death

OMIM : 57 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)

Genetics Home Reference : 25 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.

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:

57
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:

59 32 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
2 sudden cardiac death 59 32 occasional (7.5%) Occasional (29-5%) HP:0001645
3 hypertrophic cardiomyopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001639
4 generalized muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003324
5 congestive heart failure 59 32 frequent (33%) Frequent (79-30%) HP:0001635
6 hepatic steatosis 59 32 frequent (33%) Frequent (79-30%) HP:0001397
7 elevated hepatic transaminases 59 32 frequent (33%) Frequent (79-30%) HP:0002910
8 thrombocytopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001873
9 increased serum lactate 59 32 frequent (33%) Frequent (79-30%) HP:0002151
10 lactic acidosis 59 32 frequent (33%) Frequent (79-30%) HP:0003128
11 myalgia 59 32 frequent (33%) Frequent (79-30%) HP:0003326
12 acute hepatic failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0006554
13 hyperammonemia 59 32 frequent (33%) Frequent (79-30%) HP:0001987
14 cerebral edema 59 32 occasional (7.5%) Occasional (29-5%) HP:0002181
15 encephalopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001298
16 dilated cardiomyopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001644
17 fatigable weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003473
18 elevated creatine kinase after exercise 59 32 frequent (33%) Frequent (79-30%) HP:0008331
19 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
20 prolonged prothrombin time 59 32 frequent (33%) Frequent (79-30%) HP:0008151
21 nonketotic hypoglycemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001958
22 increased lactate dehydrogenase activity 59 32 frequent (33%) Frequent (79-30%) HP:0025435
23 dicarboxylic aciduria 59 32 occasional (7.5%) Occasional (29-5%) HP:0003215
24 decreased plasma carnitine 59 32 frequent (33%) Frequent (79-30%) HP:0003234
25 elevated plasma acylcarnitine levels 59 32 frequent (33%) Frequent (79-30%) HP:0045045
26 cerebellar hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0011695
27 decreased activity of mitochondrial complex i 59 32 obligate (100%) Obligate (100%) HP:0011923
28 muscle weakness 32 HP:0001324
29 myopathy 59 Frequent (79-30%)
30 hypoglycemia 32 HP:0001943
31 stroke 32 HP:0001297
32 hepatic failure 32 HP:0001399
33 exercise intolerance 32 HP:0003546
34 emg: myopathic abnormalities 59 Frequent (79-30%)
35 microvesicular hepatic steatosis 32 HP:0001414
36 emg 32 frequent (33%) HP:0003458

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 29 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:

41
Liver, Heart, Brain

Publications for Mitochondrial Complex I Deficiency Due to Acad9 Deficiency

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

# 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:

75 (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
12 ACAD9 p.Leu606His VAR_076179

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

6
(show top 50) (show all 108)
# 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.1249C> T (p.Arg417Cys) single nucleotide variant Pathogenic rs368949613 GRCh38 Chromosome 3, 128906220: 128906220
3 ACAD9 NM_014049.4(ACAD9): c.130T> A (p.Phe44Ile) single nucleotide variant Pathogenic rs387907041 GRCh37 Chromosome 3, 128598664: 128598664
4 ACAD9 NM_014049.4(ACAD9): c.130T> A (p.Phe44Ile) single nucleotide variant Pathogenic rs387907041 GRCh38 Chromosome 3, 128879821: 128879821
5 ACAD9 NM_014049.4(ACAD9): c.797G> A (p.Arg266Gln) single nucleotide variant Pathogenic rs387907042 GRCh37 Chromosome 3, 128618293: 128618293
6 ACAD9 NM_014049.4(ACAD9): c.797G> A (p.Arg266Gln) single nucleotide variant Pathogenic rs387907042 GRCh38 Chromosome 3, 128899450: 128899450
7 ACAD9 NM_014049.4(ACAD9): c.976G> C (p.Ala326Pro) single nucleotide variant Pathogenic rs115532916 GRCh37 Chromosome 3, 128622922: 128622922
8 ACAD9 NM_014049.4(ACAD9): c.976G> C (p.Ala326Pro) single nucleotide variant Pathogenic rs115532916 GRCh38 Chromosome 3, 128904079: 128904079
9 ACAD9 NM_014049.4(ACAD9): c.1594C> T (p.Arg532Trp) single nucleotide variant Likely pathogenic rs377022708 GRCh37 Chromosome 3, 128628894: 128628894
10 ACAD9 NM_014049.4(ACAD9): c.1594C> T (p.Arg532Trp) single nucleotide variant Likely pathogenic rs377022708 GRCh38 Chromosome 3, 128910051: 128910051
11 ACAD9 NM_014049.4(ACAD9): c.379A> C (p.Arg127=) single nucleotide variant Benign rs1680778 GRCh37 Chromosome 3, 128614185: 128614185
12 ACAD9 NM_014049.4(ACAD9): c.379A> C (p.Arg127=) single nucleotide variant Benign rs1680778 GRCh38 Chromosome 3, 128895342: 128895342
13 ACAD9 NM_014049.4(ACAD9): c.1279-7A> G single nucleotide variant Benign rs1683787 GRCh37 Chromosome 3, 128627021: 128627021
14 ACAD9 NM_014049.4(ACAD9): c.1279-7A> G single nucleotide variant Benign rs1683787 GRCh38 Chromosome 3, 128908178: 128908178
15 ACAD9 NM_014049.4(ACAD9): c.152A> T (p.Lys51Ile) single nucleotide variant Uncertain significance rs149931573 GRCh38 Chromosome 3, 128884654: 128884654
16 ACAD9 NM_014049.4(ACAD9): c.152A> T (p.Lys51Ile) single nucleotide variant Uncertain significance rs149931573 GRCh37 Chromosome 3, 128603497: 128603497
17 ACAD9 NM_014049.4(ACAD9): c.442A> G (p.Ile148Val) single nucleotide variant Uncertain significance rs202119704 GRCh37 Chromosome 3, 128614248: 128614248
18 ACAD9 NM_014049.4(ACAD9): c.442A> G (p.Ile148Val) single nucleotide variant Uncertain significance rs202119704 GRCh38 Chromosome 3, 128895405: 128895405
19 ACAD9 NM_014049.4(ACAD9): c.928G> A (p.Val310Ile) single nucleotide variant Uncertain significance rs139073821 GRCh37 Chromosome 3, 128621441: 128621441
20 ACAD9 NM_014049.4(ACAD9): c.928G> A (p.Val310Ile) single nucleotide variant Uncertain significance rs139073821 GRCh38 Chromosome 3, 128902598: 128902598
21 ACAD9 NM_014049.4(ACAD9): c.359delT (p.Phe120Serfs) deletion no interpretation for the single variant rs863224844 GRCh37 Chromosome 3, 128614165: 128614165
22 ACAD9 NM_014049.4(ACAD9): c.359delT (p.Phe120Serfs) deletion no interpretation for the single variant rs863224844 GRCh38 Chromosome 3, 128895322: 128895322
23 ACAD9 NM_014049.4(ACAD9): c.1846C> T (p.Pro616Ser) single nucleotide variant no interpretation for the single variant rs863224845 GRCh37 Chromosome 3, 128631430: 128631430
24 ACAD9 NM_014049.4(ACAD9): c.1846C> T (p.Pro616Ser) single nucleotide variant no interpretation for the single variant rs863224845 GRCh38 Chromosome 3, 128912587: 128912587
25 ACAD9 NM_014049.4(ACAD9): c.1A> G (p.Met1Val) single nucleotide variant no interpretation for the single variant rs773949927 GRCh37 Chromosome 3, 128598535: 128598535
26 ACAD9 NM_014049.4(ACAD9): c.1A> G (p.Met1Val) single nucleotide variant no interpretation for the single variant rs773949927 GRCh38 Chromosome 3, 128879692: 128879692
27 ACAD9 NM_014049.4(ACAD9): c.2T> G (p.Met1Arg) single nucleotide variant no interpretation for the single variant rs863225057 GRCh38 Chromosome 3, 128879693: 128879693
28 ACAD9 NM_014049.4(ACAD9): c.2T> G (p.Met1Arg) single nucleotide variant no interpretation for the single variant rs863225057 GRCh37 Chromosome 3, 128598536: 128598536
29 ACAD9 NM_014049.4(ACAD9): c.151-2A> G single nucleotide variant no interpretation for the single variant rs863225058 GRCh37 Chromosome 3, 128603494: 128603494
30 ACAD9 NM_014049.4(ACAD9): c.151-2A> G single nucleotide variant no interpretation for the single variant rs863225058 GRCh38 Chromosome 3, 128884651: 128884651
31 ACAD9 NM_014049.4(ACAD9): c.796C> T (p.Arg266Trp) single nucleotide variant no interpretation for the single variant rs753711253 GRCh37 Chromosome 3, 128618292: 128618292
32 ACAD9 NM_014049.4(ACAD9): c.796C> T (p.Arg266Trp) single nucleotide variant no interpretation for the single variant rs753711253 GRCh38 Chromosome 3, 128899449: 128899449
33 ACAD9 NM_014049.4(ACAD9): c.1015T> G (p.Phe339Val) single nucleotide variant no interpretation for the single variant rs863225056 GRCh37 Chromosome 3, 128622961: 128622961
34 ACAD9 NM_014049.4(ACAD9): c.1015T> G (p.Phe339Val) single nucleotide variant no interpretation for the single variant rs863225056 GRCh38 Chromosome 3, 128904118: 128904118
35 ACAD9 NM_014049.4(ACAD9): c.1030-1G> T single nucleotide variant no interpretation for the single variant rs773586510 GRCh38 Chromosome 3, 128904385: 128904385
36 ACAD9 NM_014049.4(ACAD9): c.1030-1G> T single nucleotide variant no interpretation for the single variant rs773586510 GRCh37 Chromosome 3, 128623228: 128623228
37 ACAD9 NM_014049.4(ACAD9): c.1237G> A (p.Glu413Lys) single nucleotide variant no interpretation for the single variant rs149753643 GRCh37 Chromosome 3, 128625051: 128625051
38 ACAD9 NM_014049.4(ACAD9): c.1237G> A (p.Glu413Lys) single nucleotide variant no interpretation for the single variant rs149753643 GRCh38 Chromosome 3, 128906208: 128906208
39 ACAD9 NM_014049.4(ACAD9): c.1298G> A (p.Arg433Gln) single nucleotide variant no interpretation for the single variant rs781156571 GRCh38 Chromosome 3, 128908204: 128908204
40 ACAD9 NM_014049.4(ACAD9): c.1298G> A (p.Arg433Gln) single nucleotide variant no interpretation for the single variant rs781156571 GRCh37 Chromosome 3, 128627047: 128627047
41 ACAD9 NM_014049.4(ACAD9): c.1552C> T (p.Arg518Cys) single nucleotide variant no interpretation for the single variant rs150283105 GRCh37 Chromosome 3, 128628253: 128628253
42 ACAD9 NM_014049.4(ACAD9): c.1552C> T (p.Arg518Cys) single nucleotide variant no interpretation for the single variant rs150283105 GRCh38 Chromosome 3, 128909410: 128909410
43 ACAD9 NM_014049.4(ACAD9): c.1564-6_1569del deletion no interpretation for the single variant rs863225059 GRCh37 Chromosome 3, 128628858: 128628869
44 ACAD9 NM_014049.4(ACAD9): c.1564-6_1569del deletion no interpretation for the single variant rs863225059 GRCh38 Chromosome 3, 128910015: 128910026
45 ACAD9 NM_014049.4(ACAD9): c.1595G> A (p.Arg532Gln) single nucleotide variant no interpretation for the single variant rs770127110 GRCh37 Chromosome 3, 128628895: 128628895
46 ACAD9 NM_014049.4(ACAD9): c.1595G> A (p.Arg532Gln) single nucleotide variant no interpretation for the single variant rs770127110 GRCh38 Chromosome 3, 128910052: 128910052
47 ACAD9 NM_014049.4(ACAD9): c.-168T> C single nucleotide variant Uncertain significance rs183973851 GRCh38 Chromosome 3, 128879524: 128879524
48 ACAD9 NM_014049.4(ACAD9): c.-168T> C single nucleotide variant Uncertain significance rs183973851 GRCh37 Chromosome 3, 128598367: 128598367
49 ACAD9 NM_014049.4(ACAD9): c.195T> C (p.Asn65=) single nucleotide variant Uncertain significance rs144978857 GRCh38 Chromosome 3, 128884697: 128884697
50 ACAD9 NM_014049.4(ACAD9): c.195T> C (p.Asn65=) single nucleotide variant Uncertain significance rs144978857 GRCh37 Chromosome 3, 128603540: 128603540

Expression for Mitochondrial Complex I Deficiency Due to Acad9 Deficiency

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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

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