ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNELDEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 38
OrphanetNr:
OMIM Id: 614520
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0002919) Ketonuria rare [HPO:skoehler] 18 / 7739
2
 (HPO:0003355) Aminoaciduria rare [HPO:skoehler] 65 / 7739
3
 (HPO:0000316) Hypertelorism 644 / 7739
4
 (HPO:0000218) High palate 356 / 7739
5
 (HPO:0005280) Depressed nasal bridge 381 / 7739
6
 (HPO:0011220) Prominent forehead 137 / 7739
7
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
8
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
9
 (HPO:0001263) Global developmental delay rare [HPO:skoehler] 853 / 7739
10
 (HPO:0006610) Wide intermamillary distance 46 / 7739
11
 (HPO:0001537) Umbilical hernia 206 / 7739
12
 (HPO:0001520) Large for gestational age rare [HPO:skoehler] 34 / 7739
13
 (HPO:0001508) Failure to thrive 454 / 7739
14
 (HPO:0001792) Small nail 55 / 7739
15
 (HPO:0001876) Pancytopenia 89 / 7739
16
 (HPO:0001873) Thrombocytopenia 224 / 7739
17
 (HPO:0001875) Neutropenia 83 / 7739
18
 (HPO:0005528) Bone marrow hypocellularity rare [HPO:skoehler] 31 / 7739
19
 (HPO:0001903) Anemia 289 / 7739
20
 (HPO:0003128) Lactic acidosis 116 / 7739
21
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
22
 (HPO:0001252) Muscular hypotonia 990 / 7739
23
 (HPO:0001324) Muscle weakness 859 / 7739
24
 (HPO:0010547) Muscle flaccidity 466 / 7739
25
 (OMIM) Decreased expression of the VDAC1 protein 1 / 7739
26
 (OMIM) Cortical dysplasia, focal (1 patient) 2 / 7739
27
 (OMIM) Skeletal muscle biopsy shows impaired respiratory oxidation 1 / 7739
28
 (OMIM) Syndactyly, 2/3 1 / 7739
29
 (OMIM) Renal tubular insufficiency (1 patient) 1 / 7739
30
 (MedDRA:10062688) Transaminases abnormal 1 / 7739
31
 (HPO:0002126) Polymicrogyria rare [HPO:skoehler] 64 / 7739
32
 (OMIM) Dilated lateral ventricles (1 patient) 1 / 7739
33
 (OMIM) Normal mitochondrial morphology (1 patient) 1 / 7739
34
 (OMIM) Hypertelorism, mild 11 / 7739
35
 (HPO:0012448) Delayed myelination rare [HPO:skoehler] 51 / 7739
36
 (MedDRA:10051403) Mitochondrial DNA deletion 6 / 7739
37
 (OMIM) Electrolyturia (1 patient) 1 / 7739
38
 (OMIM) Poor visual fixation 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Huizing et al. (1994, 1996) reported a boy with macrosomia, mild dysmorphic features, severe psychomotor retardation, delayed myelination, and polymicrogyria. Mild dysmorphic features included prominent forehead, depressed nasal bridge, mild hypertelorism, high-arched palate, widely spaced nipples, and umbilical ...