Leigh syndrome with nephrotic syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Leigh disease with nephrotic syndrome
Infantile subacute necrotizing encephalopathy with nephrotic syndrome
Number of Symptoms 32
OrphanetNr: 255249
OMIM Id: 607426
614652
ICD-10: G31.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
17186472 [IBIS]
Age of onset: Neonatal
17186472 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Leigh syndrome
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Comment:

A male infant is described with severe Leigh syndrome, nephrotic syndrome, and CoQ10 deficiency in muscle and fibroblasts, and compound heterozygous mutations in the PDSS2 gene, which encodes a subunit of decaprenyl diphosphate synthase, the first enzyme of the CoQ10 biosynthetic pathway (PMID:17186472).

Symptom Information: Sort by abundance 

1
 (HPO:0008872) Feeding difficulties in infancy 17186472 IBIS 153 / 7739
2
 (HPO:0002572) Episodic vomiting 17186472 IBIS 12 / 7739
3
 (HPO:0012379) Abnormal enzyme/coenzyme activity 17186472 IBIS 3 / 7739
4
 (HPO:0002090) Pneumonia 17186472 IBIS 59 / 7739
5
 (HPO:0002151) Increased serum lactate 17186472 IBIS 92 / 7739
6
 (HPO:0008972) Decreased activity of mitochondrial respiratory chain 17186472 IBIS 34 / 7739
7
 (HPO:0008314) Decreased activity of mitochondrial complex II 17186472 IBIS 7 / 7739
8
 (HPO:0011924) Decreased activity of mitochondrial complex III 17186472 IBIS 22 / 7739
9
 (HPO:0012116) Abnormal albumin level 17186472 IBIS 1 / 7739
10
 (HPO:0003073) Hypoalbuminemia 17186472 IBIS 40 / 7739
11
 (HPO:0000969) Edema 17186472 IBIS 117 / 7739
12
 (HPO:0003198) Myopathy 17186472 IBIS 151 / 7739
13
 (HPO:0001319) Neonatal hypotonia 17186472 IBIS 101 / 7739
14
 (HPO:0001298) Encephalopathy 17186472 IBIS 72 / 7739
15
 (HPO:0002353) EEG abnormality 17186472 IBIS 188 / 7739
16
 (HPO:0011193) EEG with focal spikes 17186472 IBIS 1 / 7739
17
 (HPO:0001250) Seizures 17186472 IBIS 1245 / 7739
18
 (HPO:0002133) Status epilepticus 17186472 IBIS 59 / 7739
19
 (HPO:0000112) Nephropathy 17186472 IBIS 92 / 7739
20
 (HPO:0000100) Nephrotic syndrome 17186472 IBIS 83 / 7739
21
 (HPO:0000093) Proteinuria 17186472 IBIS 169 / 7739
22
 (HPO:0001510) Growth delay 17186472 IBIS 295 / 7739
23
 (HPO:0003548) Subsarcolemmal accumulations of abnormally shaped mitochondria 17186472 IBIS 9 / 7739
24
 (HPO:0002134) Abnormality of the basal ganglia 17186472 IBIS 13 / 7739
25
 (HPO:0002500) Abnormality of the cerebral white matter 17186472 IBIS 73 / 7739
26
 (HPO:0002453) Abnormality of the globus pallidus 17186472 IBIS 4 / 7739
27
 (MedDRA:10051004) Floppy infant 17186472 IBIS 5 / 7739
28
 (MedDRA:10057977) Lactate pyruvate ratio increased 17186472 IBIS 3 / 7739
29
 (MedDRA:10053584) Neonatal pneumonia 17186472 IBIS 1 / 7739
30
 (OMIM) Coenzyme Q10 deficiency 17186472 IBIS 3 / 7739
31
 (OMIM) Encephalomyopathy 17186472 IBIS 2 / 7739
32
 (OMIM) Seizures, refractory, infantile-onset 17186472 IBIS 2 / 7739

Associated genes:

PDSS2; COQ2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: