Disease #02821

Official abbreviation COXPD-1
Name combined oxidative phosphorylation deficiency, type 1 (COXPD-1)
OMIM ID 609060
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 7
Phenotype entries for this disease 7
Associated with 1 gene GFM1
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Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00064674 28216230-Pat1/2 PubMed: Simon 2017 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no Mexico Hispanic - 0 - - COXPD-1 encephalopathy, hepatomegaly, developmental delay, microcephaly, lactic acidosis, abn. carbohydrate deficient transferrin GFM1 GFM1 2 2 Mariella Simon
00073550 - PubMed: Coenen 2004 2-generation family, 2 sibs, unaffected heterozygous carrier parents F;M yes Lebanon - <00y05m 0 - - COXPD-1 sib1: neonatal liver failure, IUGR, microcephaly, stiffness, severe lactic acidosis, basal ganglia/corpus callosum abnormalities, died after 27d sib2: liver failure (7w), stiffness, elevated lactate, abnormal corpus callosum, died after 5m GFM1 GFM1 1 1 Johan den Dunnen
00073551 - PubMed: Antonicka 2007 family, 1 affected, unaffected heterozygous carrier parents/sibs F no Italy - 01y04m 0 - - COXPD-1 see paper; ..., dysmorphic features, short tibia, feeding difficulties, vomiting, lactic acidosis, elevated pyruvate, abnormal MRI putamen, globus pallidus mesencephalon, microcephalia, died at 16m of respiratory insufficiency GFM1 GFM1 2 1 Johan den Dunnen
00073553 - PubMed: Antonicka 2006 family, 2 affected sibs, unaffected heterozygous carrier parents F no United States - <00y00m09d 0 - - COXPD-1 see paper; Sib1 dysmorphic, IUGR, microcephaly, neonatal liver failure, lactic acidosis, coagulopathy, died at 9d of respiratory failure Sib2 died 45 min after birth GFM1 GFM1 2 2 Johan den Dunnen
00073554 - PubMed: Balasubramaniam 2012, Journal: Balasubramaniam 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents/sib F no China - 00y08m 0 - - COXPD-1 see paper; liver failure, IUGR, encephalopathy, lactic academia,inc pyruvate, ketosis, hypoglycemia, vomiting; abnormal MRI putamen globus pallidi; nystagmus, cystic kidneys, mild coagulopathy, normal transferrin, died at 8m (respiratory failure) GFM1 GFM1 2 1 Johan den Dunnen
00100942 22277967-P18 PubMed: Calvo 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents/sib M ? - - - 0 - - COXPD-1 hypsarrhythmia (HP:0002521), failure to thrive (HP:0001508), dystonia (HP:0001332), squint (HP:0000486), decreased complex IV activity (HP:0008347) in muscle and fibroblast, normal for complex I and III GFM1 GFM1 2 1 Mariella Simon
00100949 22277967-P29 PubMed: Calvo 2012, Journal: Calvo 2012 2-generation family, 1 affected, unaffected heterozygous carrier mother F no - - - 0 - - COXPD-1 developmental delay (HP:0001263), seizures (HP:0001250), hypotonia (HP:0001290), episodic metabolic acidosis (HP:0004911) GFM1 GFM1 2 1 Johan den Dunnen
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