Lethal encephalopathy due to mitochondrial and peroxisomal fission defect

General Information (adopted from Orphanet):

Synonyms, Signs: EMPF
Number of Symptoms 27
OrphanetNr: 330050
OMIM Id: 614388
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Mitochondrial oxidative phosphorylation disorder with no known mechanism
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000490) Deeply set eye 131 / 7739
2
 (HPO:0000307) Pointed chin 45 / 7739
3
 (HPO:0000252) Microcephaly 832 / 7739
4
 (HPO:0000666) Horizontal nystagmus 32 / 7739
5
 (HPO:0000648) Optic atrophy 238 / 7739
6
 (HPO:0001284) Areflexia 198 / 7739
7
 (HPO:0001298) Encephalopathy 72 / 7739
8
 (HPO:0001558) Decreased fetal movement 74 / 7739
9
 (HPO:0011968) Feeding difficulties 240 / 7739
10
 (HPO:0001508) Failure to thrive 454 / 7739
11
 (HPO:0003128) Lactic acidosis 116 / 7739
12
 (HPO:0001252) Muscular hypotonia 990 / 7739
13
 (HPO:0010547) Muscle flaccidity 466 / 7739
14
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
15
 (HPO:0001324) Muscle weakness 859 / 7739
16
 (OMIM) Little spontaneous movement 1 / 7739
17
 (HPO:0001522) Death in infancy 275 / 7739
18
 (OMIM) Poor visual fixation 4 / 7739
19
 (OMIM) Cupped optic discs 1 / 7739
20
 (OMIM) Fibroblasts show elongated, tangled, tubular mitochondria 1 / 7739
21
 (OMIM) No developmental progress 1 / 7739
22
 (OMIM) Brain MRI shows abnormal gyral pattern in frontal lobes 1 / 7739
23
 (MedDRA:10067601) Dysmyelination 5 / 7739
24
 (OMIM) Increased serum and CSF lactate 7 / 7739
25
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
26
 (OMIM) Fibroblasts show decreased peroxisomes arranged in rows 1 / 7739
27
 (OMIM) Defect in mitochondrial and peroxisomal fission 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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).
Clinical Description OMIM Waterham et al. (2007) reported a newborn girl, born of unrelated Caucasian parents of British ancestry, with a systemic disorder resulting in death in infancy. The mother noted diminished fetal movements during pregnancy. After birth, the infant was ...
Molecular genetics OMIM In a newborn girl with a systemic lethal disorder and abnormal peroxisomes and mitochondria in fibroblast studies, Waterham et al. (2007) identified a de novo heterozygous mutation in the DNM1L gene (A395D; 603850.0001). The mutation was associated with ...