COENZYME Q10 DEFICIENCY, PRIMARY, 3

General Information (adopted from Orphanet):

Synonyms, Signs: COQ10D3
Number of Symptoms 14
OrphanetNr:
OMIM Id: 614652
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000093) Proteinuria 169 / 7739
2
(HPO:0000100) Nephrotic syndrome 83 / 7739
3
(HPO:0100704) Cortical visual impairment 28 / 7739
4
(HPO:0002133) Status epilepticus 59 / 7739
5
(HPO:0011968) Feeding difficulties 240 / 7739
6
(HPO:0000969) Edema 117 / 7739
7
(HPO:0002151) Increased serum lactate 92 / 7739
8
(HPO:0001319) Neonatal hypotonia 101 / 7739
9
(OMIM) Coenzyme Q10 deficiency 3 / 7739
10
(OMIM) Bilateral signals in the basal ganglia 1 / 7739
11
(OMIM) Leigh syndrome 7 / 7739
12
(OMIM) Decreased respiratory complex II+III activity 1 / 7739
13
(OMIM) Refractory seizures 15 / 7739
14
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lopez et al. (2006) described a male infant, born of unrelated white parents, who presented with neonatal pneumonia and hypotonia. At age 3 months, he developed refractory left-sided seizures with secondary generalization, despite various combinations of antiepileptic drugs. ...
Molecular genetics OMIM In an infant with a fatal encephalomyopathic form of CoQ10 deficiency with nephrotic syndrome, Lopez et al. (2006) found compound heterozygous mutations in the PDSS2 gene (610564.0001; 610564.0002), which encodes a subunit of decaprenyl diphosphate synthase, the first ...