Disease #02012 (PCKDC (deficiency, phosphoenolpyruvate carboxykinase, cytosolic (PCKDC)), OMIM:261680)

Official abbreviation PCKDC
Name deficiency, phosphoenolpyruvate carboxykinase, cytosolic (PCKDC)
OMIM ID 261680
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene PCK1
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Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00080922 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - PCKDC Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency (OMIM:261680) PCK1 PCK1 1 1 Daniel Trujillano
00092270 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - - United States - - 0 - - PCKDC mild IDD, transient acute liver failure during viral illness, with episodes of recurrent hyperammonemia, lactic acidosis, elevated tricyclic acid metabolites, stabilization on responsive to carbohydrate rich diet, fatty liver infiltration; recurrent metabolic decompensation PCK1 - 0 1 Johan den Dunnen
00299708 1370131 In press Clin Genet 2020 - F yes Saudi Arabia - 07y 0 - - PCKDC Severe LVOT obstruction LV hypertrophy. Recurrent sub-aortic membrane. Congenital heart valve disease. - ADAMTS19 1 1 Aida Bertoli-Avella
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