MC1DN20
MCID: MTC151
MIFTS: 37

Mitochondrial Complex I Deficiency, Nuclear Type 20 (MC1DN20)

Categories: Genetic diseases, Metabolic 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 57 72 39
Acad9 Deficiency 57 12 43 58 72 13
Acyl-Coa Dehydrogenase 9 Deficiency 57 12 43 58 36
Acyl-Coa Dehydrogenase Family, Member 9, Deficiency of 29 6 44 70
Mitochondrial Complex I Deficiency Due to Acad9 Deficiency 57 43 72
Mc1dn20 57 12 72
Mitochondrial Complex 1 Deficiency Due to Acad9 Deficiency 12
Deficiency of Acyl-Coa Dehydrogenase Family Member 9 43
Acyl-Coa Dehydrogenase Family, Member 9, Deficiency 72
Nuclear Type Mitochondrial Complex I Deficiency 20 12

Characteristics:

Orphanet epidemiological data:

58
acyl-coa dehydrogenase 9 deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM®:

57 (Updated 20-May-2021)
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, nuclear type 20:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Mitochondrial Complex I Deficiency, Nuclear Type 20

MedlinePlus Genetics : 43 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.Mildly affected individuals with ACAD9 deficiency usually experience nausea and extreme fatigue in response to physical activity (exercise intolerance). People with ACAD9 deficiency who are moderately affected have low muscle tone (hypotonia) and weakness in the muscles used for movement (skeletal muscles). Severely affected individuals have brain dysfunction combined with myopathy (encephalomyopathy); these individuals usually also have an enlarged and weakened heart muscle (hypertrophic cardiomyopathy), which is typically fatal in infancy or childhood.Individuals with ACAD9 deficiency who survive past early childhood often have intellectual disability and may develop seizures. Rare signs and symptoms of ACAD9 deficiency include movement disorders and problems with liver and kidney function.Some individuals with ACAD9 deficiency have had improvement in muscle strength and a reduction in lactic acid levels with treatment.

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 20, also known as acad9 deficiency, is related to lactic acidosis and hypertrophic cardiomyopathy, 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 heart, liver and skeletal muscle, and related phenotypes are decreased activity of mitochondrial complex i and failure to thrive

Disease Ontology : 12 A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has material basis in homozygous or compound heterozygous mutation in ACAD9 on chromosome 3q21.3.

OMIM® : 57 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) (Updated 20-May-2021)

KEGG : 36 Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is one of the mitochondrial fatty-acid oxidation disorders that has recently been described. ACAD9 is a mitochondrial protein involved in oxidative phosphorylation complex I biogenesis. This protein also exhibits acyl-CoA dehydrogenase activity. Patients have been reported to suffer from primarily heart, muscle, liver, and nervous system disorders.

UniProtKB/Swiss-Prot : 72 Mitochondrial complex I deficiency, nuclear type 20: 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.

Related Diseases for Mitochondrial Complex I Deficiency, Nuclear Type 20

Diseases related to Mitochondrial Complex I Deficiency, Nuclear Type 20 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 lactic acidosis 10.2
2 hypertrophic cardiomyopathy 10.1
3 atrial standstill 1 10.0
4 mitochondrial complex i deficiency, nuclear type 1 10.0
5 leigh syndrome 10.0
6 alacrima, achalasia, and mental retardation syndrome 10.0
7 microcephaly 10.0
8 myopathy 10.0
9 dystonia 10.0
10 mitochondrial myopathy 10.0
11 hypoglycemia 10.0

Graphical network of the top 20 diseases related to Mitochondrial Complex I Deficiency, Nuclear Type 20:



Diseases related to 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:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased activity of mitochondrial complex i 58 31 obligate (100%) Obligate (100%) HP:0011923
2 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
3 congestive heart failure 58 31 frequent (33%) Frequent (79-30%) HP:0001635
4 hepatic steatosis 58 31 frequent (33%) Frequent (79-30%) HP:0001397
5 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
6 hypertrophic cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001639
7 thrombocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001873
8 dilated cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001644
9 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0003458
10 myalgia 58 31 frequent (33%) Frequent (79-30%) HP:0003326
11 increased serum lactate 58 31 frequent (33%) Frequent (79-30%) HP:0002151
12 hyperammonemia 58 31 frequent (33%) Frequent (79-30%) HP:0001987
13 prolonged prothrombin time 58 31 frequent (33%) Frequent (79-30%) HP:0008151
14 encephalopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001298
15 lactic acidosis 58 31 frequent (33%) Frequent (79-30%) HP:0003128
16 generalized muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003324
17 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
18 fatigable weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003473
19 decreased plasma carnitine 58 31 frequent (33%) Frequent (79-30%) HP:0003234
20 elevated creatine kinase after exercise 58 31 frequent (33%) Frequent (79-30%) HP:0008331
21 increased lactate dehydrogenase level 31 frequent (33%) HP:0025435
22 elevated circulating acylcarnitine concentration 31 frequent (33%) HP:0045045
23 sudden cardiac death 58 31 occasional (7.5%) Occasional (29-5%) HP:0001645
24 acute hepatic failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0006554
25 nonketotic hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001958
26 cerebral edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0002181
27 cerebellar hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0011695
28 dicarboxylic aciduria 58 31 occasional (7.5%) Occasional (29-5%) HP:0003215
29 muscle weakness 31 HP:0001324
30 myopathy 58 Frequent (79-30%)
31 hypoglycemia 31 HP:0001943
32 stroke 31 HP:0001297
33 hepatic failure 31 HP:0001399
34 exercise intolerance 31 HP:0003546
35 increased lactate dehydrogenase activity 58 Frequent (79-30%)
36 microvesicular hepatic steatosis 31 HP:0001414
37 elevated plasma acylcarnitine levels 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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:
encephalopathy
cerebral edema
cerebellar stroke

Clinical features from OMIM®:

611126 (Updated 20-May-2021)

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

Cochrane evidence based reviews: acyl-coa dehydrogenase family, member 9, deficiency of

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 29 ACAD9

Anatomical Context for Mitochondrial Complex I Deficiency, Nuclear Type 20

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

40
Heart, Liver, Skeletal Muscle, Cardiac Myocytes

Publications for Mitochondrial Complex I Deficiency, Nuclear Type 20

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

(show all 18)
# Title Authors PMID Year
1
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency. 61 57 6
25721401 2015
2
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency. 57 6 61
17564966 2007
3
Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients. 6 57
27233227 2016
4
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 57 6
22499348 2012
5
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. 57 6
21057504 2010
6
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? 6 61
30025539 2018
7
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease. 6
32313153 2020
8
Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutation. 6
28529009 2017
9
High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood. 6
26669660 2016
10
Clinical exome sequencing for genetic identification of rare Mendelian disorders. 6
25326637 2014
11
Successful pregnancy in a patient with mitochondrial cardiomyopathy due to ACAD9 deficiency. 61
33204590 2020
12
Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q10. 61
31473688 2019
13
Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency. 61
29348607 2018
14
An atypical presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach. 61
28070495 2017
15
Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules. 61
26826406 2016
16
Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency. 61
26475292 2015
17
Emerging aspects of treatment in mitochondrial disorders. 61
25962587 2015
18
Mitochondrial fatty acid oxidation defects--remaining challenges. 61
18836889 2008

Variations for Mitochondrial Complex I Deficiency, Nuclear Type 20

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

6 (show top 50) (show all 112)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACAD9 NM_014049.5(ACAD9):c.130T>A (p.Phe44Ile) SNV Pathogenic 30881 rs387907041 GRCh37: 3:128598664-128598664
GRCh38: 3:128879821-128879821
2 ACAD9 NM_014049.5(ACAD9):c.797G>A (p.Arg266Gln) SNV Pathogenic 30882 rs387907042 GRCh37: 3:128618293-128618293
GRCh38: 3:128899450-128899450
3 ACAD9 NM_014049.5(ACAD9):c.1109del (p.Pro370fs) Deletion Pathogenic 816931 rs1576344664 GRCh37: 3:128623307-128623307
GRCh38: 3:128904464-128904464
4 ACAD9 NM_014049.5(ACAD9):c.509C>T (p.Ala170Val) SNV Pathogenic 372249 rs762521317 GRCh37: 3:128615334-128615334
GRCh38: 3:128896491-128896491
5 ACAD9 , CFAP92 NM_014049.5(ACAD9):c.1687C>G (p.His563Asp) SNV Pathogenic 372250 rs1057518752 GRCh37: 3:128628987-128628987
GRCh38: 3:128910144-128910144
6 ACAD9 NM_014049.5(ACAD9):c.1249C>T (p.Arg417Cys) SNV Pathogenic 30880 rs368949613 GRCh37: 3:128625063-128625063
GRCh38: 3:128906220-128906220
7 ACAD9 NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp) SNV Pathogenic 242466 rs753711253 GRCh37: 3:128618292-128618292
GRCh38: 3:128899449-128899449
8 ACAD9 NM_014049.5(ACAD9):c.1015T>G (p.Phe339Val) SNV Pathogenic 242465 rs863225056 GRCh37: 3:128622961-128622961
GRCh38: 3:128904118-128904118
9 ACAD9 NM_014049.5(ACAD9):c.1298G>A (p.Arg433Gln) SNV Pathogenic 242462 rs781156571 GRCh37: 3:128627047-128627047
GRCh38: 3:128908204-128908204
10 ACAD9 NM_014049.5(ACAD9):c.1249C>T (p.Arg417Cys) SNV Pathogenic 30880 rs368949613 GRCh37: 3:128625063-128625063
GRCh38: 3:128906220-128906220
11 ACAD9 NM_014049.5(ACAD9):c.1344_1348dup (p.Thr450fs) Duplication Pathogenic 638407 rs1576347955 GRCh37: 3:128627092-128627093
GRCh38: 3:128908249-128908250
12 ACAD9 NM_014049.5(ACAD9):c.1553G>A (p.Arg518His) SNV Pathogenic 858760 GRCh37: 3:128628254-128628254
GRCh38: 3:128909411-128909411
13 ACAD9 NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys) SNV Pathogenic 242461 rs150283105 GRCh37: 3:128628253-128628253
GRCh38: 3:128909410-128909410
14 ACAD9 , CFAP92 NM_014049.5(ACAD9):c.1564-6_1569del Deletion Pathogenic 242460 rs863225059 GRCh37: 3:128628858-128628869
GRCh38: 3:128910015-128910026
15 ACAD9 , CFAP92 NM_014049.5(ACAD9):c.1594C>T (p.Arg532Trp) SNV Pathogenic 30884 rs377022708 GRCh37: 3:128628894-128628894
GRCh38: 3:128910051-128910051
16 ACAD9 , CFAP92 NM_014049.5(ACAD9):c.1594C>T (p.Arg532Trp) SNV Pathogenic 30884 rs377022708 GRCh37: 3:128628894-128628894
GRCh38: 3:128910051-128910051
17 ACAD9 NM_014049.5(ACAD9):c.1278+1G>A SNV Pathogenic 1031232 GRCh37: 3:128625093-128625093
GRCh38: 3:128906250-128906250
18 ACAD9 NM_014049.5(ACAD9):c.184dup (p.Asp62fs) Duplication Pathogenic 1033254 GRCh37: 3:128603528-128603529
GRCh38: 3:128884685-128884686
19 ACAD9 NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr) SNV Pathogenic 136253 rs115532916 GRCh37: 3:128622922-128622922
GRCh38: 3:128904079-128904079
20 ACAD9 NM_014049.5(ACAD9):c.1429C>T (p.Arg477Ter) SNV Pathogenic 864413 GRCh37: 3:128627886-128627886
GRCh38: 3:128909043-128909043
21 ACAD9 NM_014049.5(ACAD9):c.359del (p.Phe120fs) Deletion Likely pathogenic 242524 rs863224844 GRCh37: 3:128614164-128614164
GRCh38: 3:128895321-128895321
22 ACAD9 NM_014049.5(ACAD9):c.514G>A (p.Gly172Arg) SNV Likely pathogenic 372569 rs761102100 GRCh37: 3:128615339-128615339
GRCh38: 3:128896496-128896496
23 ACAD9 NM_014049.5(ACAD9):c.1240C>T (p.Arg414Cys) SNV Likely pathogenic 420048 rs777282696 GRCh37: 3:128625054-128625054
GRCh38: 3:128906211-128906211
24 ACAD9 , CFAP92 NM_014049.5(ACAD9):c.1846C>T (p.Pro616Ser) SNV Likely pathogenic 242523 rs863224845 GRCh37: 3:128631430-128631430
GRCh38: 3:128912587-128912587
25 ACAD9 NM_014049.5(ACAD9):c.151-1_151del Deletion Likely pathogenic 848539 GRCh37: 3:128603494-128603495
GRCh38: 3:128884651-128884652
26 ACAD9 NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys) SNV Likely pathogenic 242461 rs150283105 GRCh37: 3:128628253-128628253
GRCh38: 3:128909410-128909410
27 ACAD9 NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp) SNV Likely pathogenic 242466 rs753711253 GRCh37: 3:128618292-128618292
GRCh38: 3:128899449-128899449
28 ACAD9 NM_014049.5(ACAD9):c.632A>G (p.Lys211Arg) SNV Likely pathogenic 869392 GRCh37: 3:128616552-128616552
GRCh38: 3:128897709-128897709
29 ACAD9 NM_014049.5(ACAD9):c.842C>T (p.Pro281Leu) SNV Likely pathogenic 869393 GRCh37: 3:128620152-128620152
GRCh38: 3:128901309-128901309
30 ACAD9 NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr) SNV Conflicting interpretations of pathogenicity 136253 rs115532916 GRCh37: 3:128622922-128622922
GRCh38: 3:128904079-128904079
31 ACAD9 NM_014049.5(ACAD9):c.453+8A>G SNV Uncertain significance 559263 rs199919500 GRCh37: 3:128614267-128614267
GRCh38: 3:128895424-128895424
32 ACAD9 NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser) SNV Uncertain significance 214001 rs141874052 GRCh37: 3:128622968-128622968
GRCh38: 3:128904125-128904125
33 ACAD9 NM_014049.5(ACAD9):c.91C>T (p.Arg31Cys) SNV Uncertain significance 214013 rs368630371 GRCh37: 3:128598625-128598625
GRCh38: 3:128879782-128879782
34 ACAD9 NM_014049.5(ACAD9):c.220G>A (p.Val74Met) SNV Uncertain significance 1031234 GRCh37: 3:128603565-128603565
GRCh38: 3:128884722-128884722
35 ACAD9 NM_014049.5(ACAD9):c.479A>C (p.Glu160Ala) SNV Uncertain significance 1031235 GRCh37: 3:128615304-128615304
GRCh38: 3:128896461-128896461
36 ACAD9 NM_014049.5(ACAD9):c.195T>C (p.Asn65=) SNV Uncertain significance 343192 rs144978857 GRCh37: 3:128603540-128603540
GRCh38: 3:128884697-128884697
37 ACAD9 NM_014049.5(ACAD9):c.442A>G (p.Ile148Val) SNV Uncertain significance 213995 rs202119704 GRCh37: 3:128614248-128614248
GRCh38: 3:128895405-128895405
38 ACAD9 NM_014049.5(ACAD9):c.152A>T (p.Lys51Ile) SNV Uncertain significance 214010 rs149931573 GRCh37: 3:128603497-128603497
GRCh38: 3:128884654-128884654
39 ACAD9 NM_014049.5(ACAD9):c.662A>G (p.Asn221Ser) SNV Uncertain significance 379494 rs761452056 GRCh37: 3:128618158-128618158
GRCh38: 3:128899315-128899315
40 ACAD9 NM_014049.5(ACAD9):c.976G>T (p.Ala326Ser) SNV Uncertain significance 1033255 GRCh37: 3:128622922-128622922
GRCh38: 3:128904079-128904079
41 ACAD9 NM_014049.5(ACAD9):c.1312C>G (p.Leu438Val) SNV Uncertain significance 1031233 GRCh37: 3:128627061-128627061
GRCh38: 3:128908218-128908218
42 ACAD9 NM_014049.5(ACAD9):c.928G>A (p.Val310Ile) SNV Uncertain significance 213989 rs139073821 GRCh37: 3:128621441-128621441
GRCh38: 3:128902598-128902598
43 ACAD9 NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp) SNV Uncertain significance 214007 rs139145143 GRCh37: 3:128627862-128627862
GRCh38: 3:128909019-128909019
44 ACAD9 NM_014049.5(ACAD9):c.452A>G (p.Lys151Arg) SNV Uncertain significance 810717 rs774429198 GRCh37: 3:128614258-128614258
GRCh38: 3:128895415-128895415
45 ACAD9 NM_014049.5(ACAD9):c.383T>G (p.Leu128Arg) SNV Uncertain significance 900020 GRCh37: 3:128614189-128614189
GRCh38: 3:128895346-128895346
46 ACAD9 NM_014049.5(ACAD9):c.634-3C>T SNV Uncertain significance 900021 GRCh37: 3:128618127-128618127
GRCh38: 3:128899284-128899284
47 ACAD9 NM_014049.5(ACAD9):c.693C>T (p.Val231=) SNV Uncertain significance 751548 rs778831368 GRCh37: 3:128618189-128618189
GRCh38: 3:128899346-128899346
48 ACAD9 NM_014049.5(ACAD9):c.778G>A (p.Glu260Lys) SNV Uncertain significance 900022 GRCh37: 3:128618274-128618274
GRCh38: 3:128899431-128899431
49 ACAD9 , CFAP92 NM_014049.5(ACAD9):c.1664G>A (p.Arg555His) SNV Uncertain significance 900092 GRCh37: 3:128628964-128628964
GRCh38: 3:128910121-128910121
50 ACAD9 , CFAP92 NM_014049.5(ACAD9):c.1705A>C (p.Asn569His) SNV Uncertain significance 900093 GRCh37: 3:128629596-128629596
GRCh38: 3:128910753-128910753

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

72 (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

Expression for Mitochondrial Complex I Deficiency, Nuclear Type 20

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Nuclear Type 20.

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

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
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44 MeSH
45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
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69 Tocris
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71 UMLS via Orphanet
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