MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4

General Information (adopted from Orphanet):

Synonyms, Signs: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5A1 TYPE
MC5DN4
Number of Symptoms 21
OrphanetNr:
OMIM Id: 615228
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Omim]
Age of onset: Congenital onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000639) Nystagmus 555 / 7739
2
(HPO:0001298) Encephalopathy 72 / 7739
3
(HPO:0000737) Irritability 93 / 7739
4
(HPO:0002448) Progressive encephalopathy 6 / 7739
5
(HPO:0002104) Apnea 106 / 7739
6
(HPO:0002089) Pulmonary hypoplasia 80 / 7739
7
(OMIM) Fibroblasts show decreased mitochondrial complex V activity 1 / 7739
8
(OMIM) Small renal cysts 1 / 7739
9
(OMIM) Cerebral damage 1 / 7739
10
(OMIM) Brainstem damage 1 / 7739
11
(OMIM) Tonus dysregulation 1 / 7739
12
(OMIM) Abnormal primitive reflexes 1 / 7739
13
(OMIM) Thalamic lesions 2 / 7739
14
(OMIM) Small cerebellum 6 / 7739
15
(OMIM) Subcortical lesions 1 / 7739
16
(OMIM) Decreased mitochondrial complex V assembly 1 / 7739
17
(OMIM) Cystic degeneration of the white matter 1 / 7739
18
(OMIM) Lipid droplets seen on muscle biopsy 1 / 7739
19
(OMIM) Pons damage 1 / 7739
20
(OMIM) High pitched cry 5 / 7739
21
(OMIM) Intractable seizures 12 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Jonckheere et al. (2013) reported 2 sibs, born of unrelated Dutch parents, with fatal infantile encephalopathy. After birth, the infants were irritable with a high-pitched cry and showed horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation. ...
Molecular genetics OMIM In 2 sibs with fatal infantile mitochondrial encephalopathy, Jonckheere et al. (2013) identified a heterozygous missense mutation in the ATP5A1 gene (R329C; 164360.0001) inherited from the unaffected father. The mutation, which was found by exome sequencing and confirmed ...