COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11; COXPD11

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11; COXPD11?

Accepted Answer

rare
autosomal recessive
mutation in the RMND1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 11

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614922

Question 4

Which enzymes are involved?

Accepted Answer

Required for meiotic nuclear division protein 1 homolog

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11; COXPD11
Synonym	ENCEPHALONEUROMYOPATHY, INFANTILE, DUE TO MITOCHONDRIAL TRANSLATION DEFECT
OMIM	614922 OMIM = Online Mendelian Inheritance of Men
Orphanet	324435
Protein (UniProt)	Required for meiotic nuclear division protein 1 homolog
Gene locus	6q25.1
ICD	G31.8
Summary	rare autosomal recessive mutation in the RMND1 gene
Laboratory findings	L-Lactic acid inc (cerebrospinal fluid) L-Lactic acid inc (plasma)
Symptoms	areflexia cardiac involvement, cardiac defects cardiomyopathy cardiomyopathy, dilated cortical or cerebral atrophy developmental delay early death encephalopathy fasciculations feeding difficulties, poor feeding hearing defect, deafness hepatomegaly (large liver) hyporeflexia hypotonia kidney, dysplastic, hypoplastic lactic acidosis lethargy, drowsiness, apathy liver involvement or dysfunction microcephaly (<2 SD for age) myelination, incomplete, hypomyelination myoclonus myopathy onset, infancy onset, neonatal peripheral neuropathy renal failure, acute/chronic renal tubular acidosis respiratory insufficiency speech development, delayed, abnormal