Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency is a rare, hereditary, mitochondrial oxidative phosphorylation disorder characterized by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycemia, dehydration, vomiting, seizures, and a risk of multiple organ failure.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency | |
| fr | Acidose lactique néonatale sévère par déficit en complexe NFS1-ISD11 | |
| de | Schwere neonatale Laktatazidose durch NFS1-ISD11-Komplex-Mangel | |
| es | Acidosis láctica neonatal grave por deficiencia del complejo NFS1-ISD11 | |
| it | Acidosi lattica neonatale grave da deficit del complesso NFS1-ISD11 | |
| nl | Ernstige neonatale lactaatacidose door deficiëntie van NFS1-ISD11-complex | |
| pt | Acidose lática neonatal grave devido a défice do complexo NFS1-ISD11 | |
| pl | Ciężka noworodkowa kwasica mleczanowa z powodu niedoboru kompleksu NFS1-ISD11 | |
| cs | Těžká neonatální laktátová acidóza způsobená deficitem komplexu NFS1-ISD11 | |
| uk | Тяжкий неонатальний молочнокислий ацидоз, зумовлений дефіцитом комплексу NFS1-ISD11 | |
| zh | NFS1-ISD11复合物缺陷所致重度新生儿乳酸酸中毒 | |
| tr | NFS1-ISD11 kompleks eksikliğine bağlı ağır yenidoğan laktik asidoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615595 | BTNT | validated | |
| OMIM | 619386 | BTNT | validated | |
| ICD-10 | E87.2 | NTBT | attributed | validated |
| ICD-11 | 5C53.2Y | NTBT | attributed | validated |
| UMLS | C4750855 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:309136Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LYRM4 | Disease-causing germline mutation(s) in | Assessed | HGNC:21365 | ENSG00000214113 | 613311 | 6p25.1 | LYR motif containing 4 | 23814038[PMID] |
| NFS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:15910 | ENSG00000244005 | 603485 | 20q11.22 | NFS1 cysteine desulfurase | 24498631[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 23814038[PMID]_24498631[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23814038[PMID]_24498631[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/397593
- This record as JSON: /data/d/397593.json