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 (showing 36, show less)
# 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:

(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:

75 (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 108, 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.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
51 ACAD9 NM_014049.4(ACAD9): c.1190C> T (p.Ala397Val) single nucleotide variant Uncertain significance rs768894091 GRCh38 Chromosome 3, 128906161: 128906161
52 ACAD9 NM_014049.4(ACAD9): c.1190C> T (p.Ala397Val) single nucleotide variant Uncertain significance rs768894091 GRCh37 Chromosome 3, 128625004: 128625004
53 ACAD9 NM_014049.4(ACAD9): c.1398C> T (p.Thr466=) single nucleotide variant Uncertain significance rs772732061 GRCh37 Chromosome 3, 128627855: 128627855
54 ACAD9 NM_014049.4(ACAD9): c.1398C> T (p.Thr466=) single nucleotide variant Uncertain significance rs772732061 GRCh38 Chromosome 3, 128909012: 128909012
55 ACAD9 NM_014049.4(ACAD9): c.1415G> A (p.Arg472Gln) single nucleotide variant Uncertain significance rs762081272 GRCh37 Chromosome 3, 128627872: 128627872
56 ACAD9 NM_014049.4(ACAD9): c.1415G> A (p.Arg472Gln) single nucleotide variant Uncertain significance rs762081272 GRCh38 Chromosome 3, 128909029: 128909029
57 ACAD9 NM_014049.4(ACAD9): c.1474C> T (p.Pro492Ser) single nucleotide variant Uncertain significance rs886057958 GRCh37 Chromosome 3, 128627931: 128627931
58 ACAD9 NM_014049.4(ACAD9): c.1474C> T (p.Pro492Ser) single nucleotide variant Uncertain significance rs886057958 GRCh38 Chromosome 3, 128909088: 128909088
59 ACAD9 NM_014049.4(ACAD9): c.1675C> A (p.Arg559Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138871762 GRCh37 Chromosome 3, 128628975: 128628975
60 ACAD9 NM_014049.4(ACAD9): c.1675C> A (p.Arg559Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138871762 GRCh38 Chromosome 3, 128910132: 128910132
61 ACAD9 NM_014049.4(ACAD9): c.*31G> A single nucleotide variant Benign rs9830739 GRCh37 Chromosome 3, 128631481: 128631481
62 ACAD9 NM_014049.4(ACAD9): c.*31G> A single nucleotide variant Benign rs9830739 GRCh38 Chromosome 3, 128912638: 128912638
63 ACAD9 NM_014049.4(ACAD9): c.*92A> C single nucleotide variant Uncertain significance rs367762859 GRCh37 Chromosome 3, 128631542: 128631542
64 ACAD9 NM_014049.4(ACAD9): c.*92A> C single nucleotide variant Uncertain significance rs367762859 GRCh38 Chromosome 3, 128912699: 128912699
65 ACAD9 NM_014049.4(ACAD9): c.-91G> T single nucleotide variant Uncertain significance rs749695064 GRCh38 Chromosome 3, 128879601: 128879601
66 ACAD9 NM_014049.4(ACAD9): c.-91G> T single nucleotide variant Uncertain significance rs749695064 GRCh37 Chromosome 3, 128598444: 128598444
67 ACAD9 NM_014049.4(ACAD9): c.346+15delC deletion Uncertain significance rs886057956 GRCh38 Chromosome 3, 128893671: 128893671
68 ACAD9 NM_014049.4(ACAD9): c.346+15delC deletion Uncertain significance rs886057956 GRCh37 Chromosome 3, 128612514: 128612514
69 ACAD9 NM_014049.4(ACAD9): c.555T> G (p.Ser185Arg) single nucleotide variant Uncertain significance rs781738719 GRCh38 Chromosome 3, 128897632: 128897632
70 ACAD9 NM_014049.4(ACAD9): c.555T> G (p.Ser185Arg) single nucleotide variant Uncertain significance rs781738719 GRCh37 Chromosome 3, 128616475: 128616475
71 ACAD9 NM_014049.4(ACAD9): c.1765+13T> C single nucleotide variant Uncertain significance rs764208038 GRCh37 Chromosome 3, 128629669: 128629669
72 ACAD9 NM_014049.4(ACAD9): c.1765+13T> C single nucleotide variant Uncertain significance rs764208038 GRCh38 Chromosome 3, 128910826: 128910826
73 ACAD9 NM_014049.4(ACAD9): c.*68C> T single nucleotide variant Likely benign rs116106966 GRCh37 Chromosome 3, 128631518: 128631518
74 ACAD9 NM_014049.4(ACAD9): c.*68C> T single nucleotide variant Likely benign rs116106966 GRCh38 Chromosome 3, 128912675: 128912675
75 ACAD9 NM_014049.4(ACAD9): c.*331T> G single nucleotide variant Likely benign rs114763241 GRCh37 Chromosome 3, 128631781: 128631781
76 ACAD9 NM_014049.4(ACAD9): c.*331T> G single nucleotide variant Likely benign rs114763241 GRCh38 Chromosome 3, 128912938: 128912938
77 ACAD9 NM_014049.4(ACAD9): c.-57_-56delGT deletion Benign rs397874507 GRCh38 Chromosome 3, 128879635: 128879636
78 ACAD9 NM_014049.4(ACAD9): c.-57_-56delGT deletion Benign rs397874507 GRCh37 Chromosome 3, 128598478: 128598479
79 ACAD9 NM_014049.4(ACAD9): c.44G> C (p.Arg15Pro) single nucleotide variant Uncertain significance rs886057955 GRCh38 Chromosome 3, 128879735: 128879735
80 ACAD9 NM_014049.4(ACAD9): c.44G> C (p.Arg15Pro) single nucleotide variant Uncertain significance rs886057955 GRCh37 Chromosome 3, 128598578: 128598578
81 ACAD9 NM_014049.4(ACAD9): c.1062C> T (p.Tyr354=) single nucleotide variant Uncertain significance rs886057957 GRCh38 Chromosome 3, 128904418: 128904418
82 ACAD9 NM_014049.4(ACAD9): c.1062C> T (p.Tyr354=) single nucleotide variant Uncertain significance rs886057957 GRCh37 Chromosome 3, 128623261: 128623261
83 ACAD9 NM_014049.4(ACAD9): c.1069G> A (p.Glu357Lys) single nucleotide variant Uncertain significance rs765411526 GRCh38 Chromosome 3, 128904425: 128904425
84 ACAD9 NM_014049.4(ACAD9): c.1069G> A (p.Glu357Lys) single nucleotide variant Uncertain significance rs765411526 GRCh37 Chromosome 3, 128623268: 128623268
85 ACAD9 NM_014049.4(ACAD9): c.1331C> T (p.Ala444Val) single nucleotide variant Uncertain significance rs549861940 GRCh37 Chromosome 3, 128627080: 128627080
86 ACAD9 NM_014049.4(ACAD9): c.1331C> T (p.Ala444Val) single nucleotide variant Uncertain significance rs549861940 GRCh38 Chromosome 3, 128908237: 128908237
87 ACAD9 NM_014049.4(ACAD9): c.*26C> T single nucleotide variant Uncertain significance rs373417322 GRCh37 Chromosome 3, 128631476: 128631476
88 ACAD9 NM_014049.4(ACAD9): c.*26C> T single nucleotide variant Uncertain significance rs373417322 GRCh38 Chromosome 3, 128912633: 128912633
89 ACAD9 NM_014049.4(ACAD9): c.*231_*232delGA deletion Likely benign rs886057959 GRCh37 Chromosome 3, 128631681: 128631682
90 ACAD9 NM_014049.4(ACAD9): c.*231_*232delGA deletion Likely benign rs886057959 GRCh38 Chromosome 3, 128912838: 128912839
91 ACAD9 NM_014049.4(ACAD9): c.*504G> A single nucleotide variant Uncertain significance rs549991044 GRCh37 Chromosome 3, 128631954: 128631954
92 ACAD9 NM_014049.4(ACAD9): c.*504G> A single nucleotide variant Uncertain significance rs549991044 GRCh38 Chromosome 3, 128913111: 128913111
93 ACAD9 NM_014049.4(ACAD9): c.-57_-56dupGT duplication Uncertain significance rs886057953 GRCh38 Chromosome 3, 128879635: 128879636
94 ACAD9 NM_014049.4(ACAD9): c.-57_-56dupGT duplication Uncertain significance rs886057953 GRCh37 Chromosome 3, 128598478: 128598479
95 ACAD9 NM_014049.4(ACAD9): c.41C> T (p.Ala14Val) single nucleotide variant Uncertain significance rs886057954 GRCh38 Chromosome 3, 128879732: 128879732
96 ACAD9 NM_014049.4(ACAD9): c.41C> T (p.Ala14Val) single nucleotide variant Uncertain significance rs886057954 GRCh37 Chromosome 3, 128598575: 128598575
97 ACAD9 NM_014049.4(ACAD9): c.1258C> T (p.Arg420Cys) single nucleotide variant Uncertain significance rs202147766 GRCh37 Chromosome 3, 128625072: 128625072
98 ACAD9 NM_014049.4(ACAD9): c.1258C> T (p.Arg420Cys) single nucleotide variant Uncertain significance rs202147766 GRCh38 Chromosome 3, 128906229: 128906229
99 ACAD9 NM_014049.4(ACAD9): c.1476C> T (p.Pro492=) single nucleotide variant Benign rs876755 GRCh37 Chromosome 3, 128627933: 128627933
100 ACAD9 NM_014049.4(ACAD9): c.1476C> T (p.Pro492=) single nucleotide variant Benign rs876755 GRCh38 Chromosome 3, 128909090: 128909090
101 ACAD9 NM_014049.4(ACAD9): c.1496A> G (p.Asn499Ser) single nucleotide variant Uncertain significance rs369787602 GRCh37 Chromosome 3, 128628197: 128628197
102 ACAD9 NM_014049.4(ACAD9): c.1496A> G (p.Asn499Ser) single nucleotide variant Uncertain significance rs369787602 GRCh38 Chromosome 3, 128909354: 128909354
103 ACAD9 NM_014049.4(ACAD9): c.1650C> G (p.Ala550=) single nucleotide variant Uncertain significance rs559422558 GRCh37 Chromosome 3, 128628950: 128628950
104 ACAD9 NM_014049.4(ACAD9): c.1650C> G (p.Ala550=) single nucleotide variant Uncertain significance rs559422558 GRCh38 Chromosome 3, 128910107: 128910107
105 ACAD9 NR_033426.1(ACAD9): n.887C> T single nucleotide variant Pathogenic rs762521317 GRCh38 Chromosome 3, 128896491: 128896491
106 ACAD9 NR_033426.1(ACAD9): n.887C> T single nucleotide variant Pathogenic rs762521317 GRCh37 Chromosome 3, 128615334: 128615334
107 ACAD9 NM_014049.4(ACAD9): c.1687C> G (p.His563Asp) single nucleotide variant Pathogenic rs1057518752 GRCh37 Chromosome 3, 128628987: 128628987
108 ACAD9 NM_014049.4(ACAD9): c.1687C> G (p.His563Asp) single nucleotide variant Pathogenic rs1057518752 GRCh38 Chromosome 3, 128910144: 128910144

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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