Encephalopathy due to defective mitochondrial and peroxisomal fission 1

Preferred Label : Encephalopathy due to defective mitochondrial and peroxisomal fission 1;

Symbol : EMPF1;

CISMeF acronym : EMPF; EMPF1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EMPF;

Description : Encephalopathy due to defective mitochondrial and peroxisomal fission is a rare autosomal dominant systemic disorder resulting in lack of neurologic development and death in infancy (summary by Waterham et al., 2007).;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the dynamin 1-like gene (DNM1L, 603850.0001);

Laboratory abnormalities : Increased serum and CSF lactate (in some patients); Fibroblasts show decreased peroxisomes arranged in rows; Fibroblasts show elongated, tangled, tubular mitochondria; Defect in mitochondrial fission; Defect in peroxisomal fission;

Prefixed ID : #614388;

Details

Origin ID

614388;

UMLS CUI

C3280660;

Currated CISMeF NLP mapping
- DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect [ORDO Disease]
- encephalopathy due to defective mitochondrial and peroxisomal fission 1 [DO Concept]
DO Cross reference
- encephalopathy due to defective mitochondrial and peroxisomal fission 1 [DO Concept]
Genes related to phenotype
- Dynamin 1-like [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Death in infancy [HPO term]
- Decreased fetal movement [HPO term]
- Deeply set eye [HPO term]
- Encephalopathy [HPO term]
- Epileptic encephalopathy [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Horizontal nystagmus [HPO term]
- Hypotonia [HPO term]
- Lactic acidosis [HPO term]
- Microcephaly [HPO term]
- Oculomotor apraxia [HPO term]
- Optic atrophy [HPO term]
- Pointed chin [HPO term]
- Progressive [HPO term]
- Seizure [HPO term]
- Status epilepticus [HPO term]
- Strabismus [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect [ORDO Disease]
See also inter- (CISMeF)
- DNM1L wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients