COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19

General Information (adopted from Orphanet):

Synonyms, Signs: COXPD19
Number of Symptoms 6
OrphanetNr:
OMIM Id: 615595
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001397) Hepatic steatosis 75 / 7739
2
(HPO:0011968) Feeding difficulties 240 / 7739
3
(HPO:0001508) Failure to thrive 454 / 7739
4
(HPO:0003128) Lactic acidosis 116 / 7739
5
(HPO:0002098) Respiratory distress 75 / 7739
6
(HPO:0001319) Neonatal hypotonia 101 / 7739

Associated genes:

LYRM4;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lim et al. (2013) reported a 20-year-old man, from a consanguineous family of Lebanese and Syrian ancestry, with a mitochondrial disorder characterized by respiratory distress, hypotonia, and severe lactic acidosis in the newborn period. Other features included gastroesophageal ...
Molecular genetics OMIM In 2 members of a consanguineous family of Lebanese and Syrian ancestry with combined oxidative phosphorylation deficiency, Lim et al. (2013) identified a homozygous missense mutation in the LYRM4 gene (R68L; 613311.0001). The mutation, which was found by ...