Deafness - encephaloneuropathy - obesity - valvulopathy

General Information (adopted from Orphanet):

Synonyms, Signs: COQ10D2
Hearing loss - encephaloneuropathy - obesity - valvulopathy
Number of Symptoms 17
OrphanetNr: 254898
OMIM Id: 614651
ICD-10: E88.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Coenzyme Q10 deficiency
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000256) Macrocephaly 298 / 7739
2
 (HPO:0000648) Optic atrophy 238 / 7739
3
 (HPO:0001256) Intellectual disability, mild 141 / 7739
4
 (HPO:0001284) Areflexia 198 / 7739
5
 (HPO:0009830) Peripheral neuropathy 206 / 7739
6
 (HPO:0001513) Obesity 172 / 7739
7
 (HPO:0000965) Cutis marmorata 46 / 7739
8
 (HPO:0002092) Pulmonary hypertension 109 / 7739
9
 (HPO:0001653) Mitral regurgitation 64 / 7739
10
 (HPO:0001659) Aortic regurgitation 36 / 7739
11
 (HPO:0002151) Increased serum lactate 92 / 7739
12
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
 (OMIM) Muscle biopsy shows mitochondrial aggregates 2 / 7739
14
 (OMIM) Coenzyme Q10 deficiency 3 / 7739
15
 (OMIM) Decreased respiratory complex I+III and II+III activity 1 / 7739
16
 (OMIM) Valvulopathy 1 / 7739
17
 (OMIM) Deafness, early-onset 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mollet et al. (2007) reported 2 sibs, born of consanguineous Moroccan parents, in which CoQ10 deficiency was manifest as a multisystem disorder with early-onset deafness, optic atrophy, mild mental retardation, peripheral neuropathy, obesity, livedo reticularis, and cardiac valvulopathy. ...
Molecular genetics OMIM In 2 Moroccan sibs with CoQ10 deficiency, Mollet et al. (2007) identified a homozygous mutation in the PDSS1 gene (D308E; 607429.0001). The mutation was found by homozygosity mapping followed by candidate gene analysis. Transformation of yeast lacking Coq1 ...