ethylmalonic encephalopathy
Information
- Disease name
- ethylmalonic encephalopathy
- Disease ID
- DOID:0060640
- Description
- "A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13." [url:https\://en.wikipedia.org/wiki/Ethylmalonic_encephalopathy, url:https\://ghr.nlm.nih.gov/condition/ethylmalonic-encephalopathy, url:https\://www.ncbi.nlm.nih.gov/pubmed/20528888]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:700
- Cross Reference ID (Disease Ontology)
- GARD:2198
- Cross Reference ID (Disease Ontology)
- MESH:C535737
- Cross Reference ID (Disease Ontology)
- MIM:602473
- Cross Reference ID (Disease Ontology)
- ORDO:51188
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:723307008
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1865349
- OrphaNumber from OrphaNet (Orphanet)
- 51188
- MedGen concept unique identifier (MedGen Concept name)
- C1865349
- MedGen unique identifier (MedGen Concept name)
- 355966