Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: COQ10D5
Number of Symptoms 21
OrphanetNr: 319678
OMIM Id: 614654
ICD-10: E88.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 cases - PMID: 11562630 [IBIS]
Inheritance: Autosomal recessive
Monogenic
- PMID: 19375058 [IBIS]
Age of onset: Neonatal
- PMID: 11562630 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Coenzyme Q10 deficiency
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
Mitochondrial disease with hypertrophic cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease

Comment:

Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease is caused by mutation in COQ9 (PMID:11562630, PMID:19375058).

Symptom Information: Sort by abundance 

1
 (HPO:0001332) Dystonia 19375058 IBIS 197 / 7739
2
 (HPO:0001276) Hypertonia 19375058 IBIS 317 / 7739
3
 (HPO:0002045) Hypothermia 19375058 IBIS 27 / 7739
4
 (HPO:0012211) Abnormal renal physiology 19375058 IBIS 23 / 7739
5
 (HPO:0000091) Abnormality of the renal tubule 11562630 IBIS 15 / 7739
6
 (HPO:0005484) Postnatal microcephaly 19375058 IBIS 32 / 7739
7
 (HPO:0001347) Hyperreflexia 19375058 IBIS 363 / 7739
8
 (HPO:0001263) Global developmental delay 19375058 IBIS 853 / 7739
9
 (HPO:0001250) Seizures 19375058 IBIS 1245 / 7739
10
 (HPO:0011968) Feeding difficulties 19375058 IBIS 240 / 7739
11
 (HPO:0001712) Left ventricular hypertrophy 19375058 IBIS 76 / 7739
12
 (HPO:0001639) Hypertrophic cardiomyopathy 11562630 IBIS 137 / 7739
13
 (HPO:0008314) Decreased activity of mitochondrial complex II 11562630 IBIS 7 / 7739
14
 (HPO:0002151) Increased serum lactate 19375058 IBIS 92 / 7739
15
 (HPO:0003128) Lactic acidosis 19375058 IBIS 116 / 7739
16
 (HPO:0011924) Decreased activity of mitochondrial complex III 11562630 IBIS 22 / 7739
17
 (HPO:0012379) Abnormal enzyme/coenzyme activity 11562630 IBIS 3 / 7739
18
 (HPO:0001612) Weak cry 19375058 IBIS 17 / 7739
19
 (HPO:0001272) Cerebellar atrophy 19375058 IBIS 197 / 7739
20
 (HPO:0002059) Cerebral atrophy 19375058 IBIS 171 / 7739
21
 (MedDRA:10053839) Ubiquinone decreased 11562630 IBIS 2 / 7739

Associated genes:

COQ9;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Rahman et al. (2001) reported a boy, the seventh child of healthy unrelated Pakistani parents, who presented in the first day of life with poor feeding, hypothermia, and seizures. There was a possible history of reduced fetal movements ...
Molecular genetics OMIM In a patient originally reported by Rahman et al. (2001), Duncan et al. (2009) demonstrated a homozygous mutation in the COQ9 gene (R244X; 612837.0001).