Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
Synonyms: Crotonase deficiency · ECHS1D
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare neurometabolic disorder characterized typically by severe neonatal or early-infantile encephalopathy, lactic acidosis and basal ganglia involvement. Majority of the patients present with severe developmental delay, hypotonia, dystonia, seizures, failure to thrive, cardiomyopathy, liver steatosis and/or hepatomegaly and sensorineural hearing loss. Optic atrophy and nystagmus may also be present. A subset of patients (mostly with an onset in infancy) may present with a milder phenotype including paroxymal dystonia, subtle gait abnormalities. In these patients motor and cognitive development is near normal and usually no major cardiomyopathy, liver failure or severe lactic crises are present.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | Crotonase deficiency · ECHS1D |
| fr | Déficit mitochondrial en énoyl-CoA hydratase 1 à chaîne courte | Déficit en crotonase |
| de | Defizienz der mitochondrialen kurzkettigen Enoyl-CoA-Hydratase 1 | Crotonase-Defizienz · Crotonase-Mangel · ECHS1D · Mitochondriale kurzkettige Enoyl-CoA-Hydratase-1-Mangel |
| es | Deficiencia mitocondrial de enoil-CoA hidratasa 1 de cadena corta | Deficiencia de crotonasa · ECHS1D |
| it | Deficit mitocondriale di enoil-CoA idratasi 1 a catena corta | Deficit di crotonasi · ECHS1D |
| nl | Deficiëntie van mitochondriaal korteketen enoyl-CoA-hydratase 1 | Deficiëntie van crotonase · ECHS1D |
| pt | Deficiência de enoil-CoA hidratase 1 de cadeia curta mitocondrial | Deficiência de crotonase · ECHS1D |
| pl | Niedobór mitochondrialnej hydratazy 1 krótkołańcuchowego enoilo-CoA | = en |
| cs | Deficit mitochondriální enoyl-CoA hydratázy 1 s krátkým řetězcem | = en |
| uk | Дефіцит мітохондріальної коротколанцюгової енойл-КоА-гідратази 1 | Дефіцит кротонази · ECHS1D |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616277 | E | validated | |
| ICD-10 | E71.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.E1 | NTBT | attributed | validated |
| MONDO | 0014563 | E | validated | |
| MONDO | 14563 | E | validated | |
| UMLS | C4225391 | 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 (2):
- ORPHA:79158Cerebral organic aciduria
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ECHS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3151 | ENSG00000127884 | 602292 | 10q26.3 | enoyl-CoA hydratase, short chain 1 | 26506407[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 23 cases | Worldwide | Case(s) | Validated | 25125611[PMID]_25393721[PMID]_26251176[PMID]_26000322[PMID]_26099313[PMID]_29575569[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 25125611[PMID]_25393721[PMID]_26251176[PMID]_26000322[PMID]_26099313[PMID]_29575569[PMID]_ORPHANET |
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/653880
- This record as JSON: /data/d/653880.json