Encephalopathy due to defective mitochondrial and peroxisomal fission 2

Preferred Label : Encephalopathy due to defective mitochondrial and peroxisomal fission 2;

Symbol : EMPF2;

CISMeF acronym : EMPF2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial fission factor gene (MFF, 614785.0001);

Laboratory abnormalities : Defect in mitochondrial fission; Serum lactate may be normal of increased; Fibroblasts show elongated peroxisomes; Fibroblasts show elongated mitochondria; Defect in peroxisomal fission;

Prefixed ID : #617086;

Details

Origin ID

617086;

UMLS CUI

C4310726;

Currated CISMeF NLP mapping
- MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect [ORDO Disease]
Genes related to phenotype
- Mitochondrial fission factor [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Dysphagia [HPO term]
- External ophthalmoplegia [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypsarrhythmia [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Microcephaly [HPO term]
- Optic atrophy [HPO term]
- Peripheral neuropathy [HPO term]
- Progressive [HPO term]
- Seizure [HPO term]
- Severe muscular hypotonia [HPO term]
- Spasticity [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect [ORDO Disease]
See also inter- (CISMeF)
- MFF wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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