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 54 25 71
Acad9 Deficiency 24 25 56 71 13
Acyl-Coa Dehydrogenase 9 Deficiency 24 25 56
Acyl-Coa Dehydrogenase Family, Member 9, Deficiency of 29 69
Deficiency of Acyl-Coa Dehydrogenase Family Member 9 25
Acyl-Coa Dehydrogenase Family, Member 9, Deficiency 71
Acyl-Coa Dehydrogenase Family, Member 9 13

Characteristics:

Orphanet epidemiological data:

56
acyl-coa dehydrogenase 9 deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

54
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: 56  
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 thrombocytopenia, encephalopathy and hypertrophic cardiomyopathy. 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 : 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.

OMIM : 54
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:

54

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

Neurologic- Central Nervous System:
encephalopathy
cerebral edema
cerebellar stroke

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

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

Hematology:
thrombocytopenia

Metabolic Features:
lactic acidosis
hypoglycemia
reye-like episode

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

Clinical features from OMIM:

611126

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

32 (show all 16)
id Description HPO Frequency HPO Source Accession
1 thrombocytopenia 32 HP:0001873
2 encephalopathy 32 HP:0001298
3 hypertrophic cardiomyopathy 32 HP:0001639
4 muscle weakness 32 HP:0001324
5 exercise intolerance 32 HP:0003546
6 lactic acidosis 32 HP:0003128
7 dilated cardiomyopathy 32 HP:0001644
8 cerebral edema 32 HP:0002181
9 hypoglycemia 32 HP:0001943
10 congestive heart failure 32 HP:0001635
11 stroke 32 HP:0001297
12 hepatic failure 32 HP:0001399
13 muscular hypotonia 32 HP:0001252
14 dicarboxylic aciduria 32 occasional (7.5%) HP:0003215
15 microvesicular hepatic steatosis 32 HP:0001414
16 elevated hepatic transaminases 32 HP:0002910

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:

id Genetic test Affiliating Genes
1 Acyl-Coa Dehydrogenase Family, Member 9, Deficiency of 29
2 Acyl-Coa Dehydrogenase 9 Deficiency 24 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:

39
Liver, Heart, Brain

Publications for Mitochondrial Complex I Deficiency Due to Acad9 Deficiency

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 (show all 12)
id 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
id 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....