ORPHA:394529
Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
Synonyms: Glutaric aciduria type 2, severe neonatal type · MAD deficiency, severe neonatal type · MADD, severe neonatal type
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under Multiple acyl-CoA dehydrogenase deficiency
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type | Glutaric aciduria type 2, severe neonatal type · MAD deficiency, severe neonatal type · MADD, severe neonatal type |
| fr | Déficit multiple en acyl-CoA déshydrogénase, type sévère néonatal | Acidémie glutarique type 2, type sévère néonatal · Déficit en MAD, type sévère néonatal |
| de | Multipler Acyl-CoA-Dehydrogenase-Mangel, schwerer neonataler Typ | Glutarazidurie Typ 2, schwerer neonataler Typ · MAD-Mangel, schwerer neonataler Typ · MADD, schwerer neonataler Typ |
| es | Deficiencia múltiple de acil-CoA deshidrogenasa tipo neonatal grave | Aciduria glutárica tipo 2, tipo neonatal grave · Deficiencia de MAD tipo neonatal grave · MADD tipo neonatal grave |
| it | Deficit multiplo di acil-CoA deidrogenasi, tipo neonatale grave | |
| nl | Meervoudige acyl-CoA-dehydrogenatiedeficiëntie, ernstig neonataal type | Glutaaracidurie type 2, ernstig neonataal type · MAD-deficiëntie, ernstig neonataal type · MADD, ernstig neonataal type |
| pt | Deficiência de acil-CoA desidrogenase múltipla, tipo neonatal grave | |
| pl | Złożony niedobór dehydrogenazy acetylo-CoA, typ ciężki noworodkowy | MADD, typ ciężki noworodkowy · Niedobór MAD, typ ciężki noworodkowy · Acyduria glutarowa typu 2, typ ciężki noworodkowy |
| cs | Deficit dehydrogenace mnohočetných acyl-CoA, těžký neonatální typ | = en |
| uk | Множинний дефіцит ацил-КоА-дегідрогенази, тяжкий неонатальний тип | Глутарова ацидурія 2 типу, важкий неонатальний тип · Дефіцит MAD, важкий неонатальний тип · MADD, важкий неонатальний тип |
| zh | 重度新生儿型多重酰基辅酶A脱氢酶缺乏症 | 重度新生儿型戊二酸尿症2型 |
| tr | Çoklu açil-KoA dehidrojenaz eksikliği, ağır yenidoğan tip | MADD, ağır yenidoğan tip · MAD eksikliği, ağır yenidoğan tip · Glutarik asidüri tip 2, ağır yenidoğan tip |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 231680 | NTBT | validated | |
| OMIM | 255100 | NTBT | validated | |
| ICD-10 | E71.3 | NTBT | attributed | validated |
| ICD-11 | 5C52.01 | NTBT | attributed | validated |
| MONDO | 0018332 | E | validated | |
| UMLS | C5680029 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:26791Multiple acyl-CoA dehydrogenase deficiency
rare cardiac diseases; rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare transplant-related disorders
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FLAD1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:24671 | ENSG00000160688 | 610595 | 1q21.3 | flavin adenine dinucleotide synthetase 1 | 27259049[PMID] |
| ETFA | Disease-causing germline mutation(s) in | Assessed | HGNC:3481 | ENSG00000140374 | 608053 | 15q24.2-q24.3 | electron transfer flavoprotein subunit alpha | |
| ETFB | Disease-causing germline mutation(s) in | Assessed | HGNC:3482 | ENSG00000105379 | 130410 | 19q13.41 | electron transfer flavoprotein subunit beta | |
| ETFDH | Disease-causing germline mutation(s) in | Assessed | HGNC:3483 | ENSG00000171503 | 231675 | 4q32.1 | electron transfer flavoprotein dehydrogenase |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/394529
- This record as JSON: /data/d/394529.json