ORPHA:26792
Short chain acyl-CoA dehydrogenase deficiency
Synonyms: ACADS deficiency · SCAD deficiency · SCADD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Short chain acyl-CoA dehydrogenase deficiency | ACADS deficiency · SCAD deficiency · SCADD |
| fr | Déficit en acyl-CoA déshydrogénase des acides gras à chaîne courte | Déficit en ACADS · Déficit en SCAD · SCADD |
| de | Kurzketten-Acyl-CoA-Dehydrogenase-Mangel | ACADS-Mangel · SCAD-Mangel · SCADD |
| es | Deficiencia de acil-CoA deshidrogenasa de cadena corta | Deficiencia de ACADS · Deficiencia de SCAD · SCADD |
| it | Deficit di acil-CoA deidrogenasi a catena corta | Deficit di ACADS · Deficit di SCAD · SCADD |
| nl | Korte keten acyl-CoA-dehydrogenasedeficiëntie | ACADS-deficiëntie · SCAD-deficiëntie · SCADD |
| pt | Deficiência de acil-CoA desidrogenase de cadeias curtas | Deficiência de SCAD |
| pl | Niedobór dehydrogenazy krótkiego łańcucha acetylo-CoA | Niedobór ACADS · Niedobór SCAD · SCADD |
| cs | Deficit acyl-CoA dehydrogenázy s krátkým řetězcem | Deficit ACADS · Deficit SCAD · SCADD |
| uk | Дефіцит коротколанцюгової ацил-КоА-дегідрогенази | Дефіцит ACADS · Дефіцит SCAD · SCADD |
| zh | 短链酰基辅酶A脱氢酶缺乏症 | ACADS缺乏症 |
| tr | Kısa zincirli açil-CoA dehidrojenaz eksikliği | SCADD · SCAD eksikliği · ACADS eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 201470 | E | validated | |
| ICD-10 | E71.3 | NTBT | attributed | validated |
| ICD-11 | 5C52.01 | NTBT | index | validated |
| MONDO | 0008722 | E | validated | |
| MeSH | C537596 | E | validated | |
| UMLS | C0342783 | E | validated | |
| GARD | 4822 | E | validated | |
| MedDRA | 10072655 | 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 (2):
- ORPHA:309120Acyl-CoA dehydrogenase deficiency
rare inborn errors of metabolism; rare genetic diseases - ORPHA:206953Muscular lipidosis
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACADS | Disease-causing germline mutation(s) in | Assessed | HGNC:90 | ENSG00000122971 | 606885 | 12q24.31 | acyl-CoA dehydrogenase short chain | 21938826[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 2 / 100 000 | Netherlands | Value and class | Validated | 21500142[PMID]_22608595[PMID]_22241096[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
24 annotations · validated 2021-01-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0045045 | Elevated plasma acylcarnitine levels | |
| HP:0003219 | Ethylmalonic aciduria | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0008947 | Floppy infant | |
| HP:0410153 | Increased level of methylsuccinic acid in urine | |
| HP:0001942 | Metabolic acidosis | |
| HP:0012758 | Neurodevelopmental delay | |
| Occasional (29-5%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000708 | Atypical behavior | |
| HP:0001638 | Cardiomyopathy | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001332 | Dystonia | |
| HP:0001397 | Hepatic steatosis | |
| HP:0006929 | Hypoglycemic encephalopathy | |
| HP:0012734 | Ketotic hypoglycemia | |
| HP:0001254 | Lethargy | |
| HP:0003198 | Myopathy | |
| HP:0002098 | Respiratory distress | |
| HP:0001250 | Seizure | |
| Very rare (<4-1%) | ||
| HP:0001276 | Hypertonia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0000648 | Optic atrophy | |
Annotation source: 21938826[PMID]_18054510[PMID]_18523805[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/26792
- This record as JSON: /data/d/26792.json