ORPHA:99901
Acyl-CoA dehydrogenase 9 deficiency
Synonyms: ACAD9 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare disorder characterized by neurological dysfunction, hepatic failure and cardiomyopathy due to a deficiency of complex I of the respiratory chain.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acyl-CoA dehydrogenase 9 deficiency | ACAD9 deficiency |
| fr | Déficit en acyl-CoA déshydrogénase 9 | Déficit en ACAD9 |
| de | Acyl-CoA-Dehydrogenase 9-Mangel | |
| es | Deficiencia de acil-CoA deshidrogenasa 9 | |
| it | Deficit di acil-CoA deidrogenasi, tipo 9 | |
| nl | Acyl-CoA-dehydrogenase 9-deficiëntie | ACAD9-deficiëntie |
| pt | Deficiência de acil-CoA desidrogenase 9 | |
| pl | Niedobór dehydrogenazy 9 acyl-CoA | = en |
| cs | Deficit dehydrogenázy acyl-CoA 9 | ACAD9 deficit |
| uk | Дефіцит ацил-КоА-дегідрогенази 9 | Дефіцит ACAD9 |
| zh | 家族性乙酰辅酶脱氢酶9型缺乏 | ACAD9 缺陷 |
| tr | Açil-CoA dehidrogenaz 9 eksikliği | ACAD9 eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611126 | E | validated | |
| ICD-10 | E71.3 | NTBT | attributed | validated |
| ICD-11 | 5C52.01 | NTBT | attributed | validated |
| MONDO | 0012624 | E | validated | |
| MeSH | C567006 | E | validated | |
| UMLS | C1970173 | E | validated | |
| MedDRA | 10081518 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:254843Exercise intolerance with lactic acidosis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:217616Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:217591Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACAD9 | Disease-causing germline mutation(s) in | Assessed | HGNC:21497 | ENSG00000177646 | 611103 | 3q21.3 | acyl-CoA dehydrogenase family member 9 | 17564966[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 23 cases | Worldwide | Case(s) | Validated | 24158852[PMID]_26669660[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_26669660[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
29 annotations · validated 2018-01-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0011923 | Decreased activity of mitochondrial complex I | |
| Frequent (79-30%) | ||
| HP:0001635 | Congestive heart failure | |
| HP:0003234 | Decreased circulating carnitine concentration | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0008331 | Elevated creatine kinase after exercise | |
| HP:0045045 | Elevated plasma acylcarnitine levels | |
| HP:0001298 | Encephalopathy | |
| HP:0001508 | Failure to thrive | |
| HP:0003473 | Fatigable weakness | |
| HP:0001290 | Generalized hypotonia | |
| HP:0003324 | Generalized muscle weakness | |
| HP:0001397 | Hepatic steatosis | |
| HP:0001987 | Hyperammonemia | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| HP:0003128 | Lactic acidosis | |
| HP:0003326 | Myalgia | |
| HP:0003198 | Myopathy | |
| HP:0008151 | Prolonged prothrombin time | |
| HP:0001873 | Thrombocytopenia | |
| Occasional (29-5%) | ||
| HP:0006554 | Acute hepatic failure | |
| HP:0011695 | Cerebellar hemorrhage | |
| HP:0002181 | Cerebral edema | |
| HP:0003215 | Dicarboxylic aciduria | |
| HP:0001958 | Nonketotic hypoglycemia | |
| HP:0001645 | Sudden cardiac death | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 25721401[PMID]_22499348[PMID]_21057504[PMID]_17564966[PMID]_27233227[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99901
- This record as JSON: /data/d/99901.json