Ethylmalonic encephalopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, early-onset, progressive neurologic disease characterized by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ethylmalonic encephalopathy | |
| fr | Encéphalopathie éthylmalonique | |
| de | Ethylmalonsäure-Enzephalopathie | |
| es | Encefalopatía etilmalónica | |
| it | Encefalopatia etilmalonica | |
| nl | Ethylmalonencefalopathie | |
| pt | Encefalopatia etilmalónica | |
| pl | Encefalopatia etylomalonowa | |
| cs | Ethylmalonová encefalopatie | |
| uk | Етилмалонова енцефалопатія | |
| zh | 乙基丙二酸脑病 | |
| tr | Etilmalonik ensefalopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602473 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.E1 | NTBT | index | validated |
| MONDO | 0011229 | E | validated | |
| MeSH | C535737 | E | validated | |
| UMLS | C1865349 | E | validated | |
| GARD | 2198 | 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:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:254837Unspecified mitochondrial disorder
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ETHE1 | Disease-causing germline mutation(s) in | Assessed | HGNC:23287 | ENSG00000105755 | 608451 | 19q13.31 | ETHE1 persulfide dioxygenase | 18593870[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 80 cases | Worldwide | Case(s) | Validated | 28933811[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28933811[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
18 annotations · validated 2019-02-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001298 | Encephalopathy | Diagnostic criterion |
| HP:0003219 | Ethylmalonic aciduria | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0012751 | Abnormal basal ganglia MRI signal intensity | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0001063 | Acrocyanosis | |
| HP:0001251 | Ataxia | |
| HP:0002376 | Developmental regression | |
| HP:0002014 | Diarrhea | |
| HP:0001508 | Failure to thrive | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0003128 | Lactic acidosis | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0000967 | Petechiae | |
| HP:0012841 | Retinal vascular tortuosity | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0012747 | Abnormal brainstem MRI signal intensity | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 20528888[PMID]_1683940[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/51188
- This record as JSON: /data/d/51188.json