Disease #00132 (FBP1D (Fructose-1,6-bisphosphatase Deficiency), OMIM:229700)

Official abbreviation FBP1D
Name Fructose-1,6-bisphosphatase Deficiency
OMIM ID 229700
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 7
Phenotype entries for this disease 7
Associated with 1 gene FBP1
Associated tissues -
Disease features -
Remarks -


Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00000717 Lip Hen Moey et al.(2018) F Malaysia Malay - - - FBP1D Age onset: 2y, has hepatomegaly, hyperlactacidemia triggered by upper respiratory tract infection, short stature FBP1 FBP1 2 1 Nur Aisyah Athirah
00000718 Lip Hen Moey et al.(2018) F Malaysia Indian - - - FBP1D Age onset: 18m, has Ketotic hypoglycemia, metabolic acidosis, hepatomegaly precipitated by febrile illness FBP1 FBP1 1 1 Nur Aisyah Athirah
00000719 Lip Hen Moey et al.(2018) F Malaysia Pakistani - - - FBP1D Age onset: 13m, has Severe metabolic acidosis, ketotic hypoglycemia. FBP1 FBP1 1 1 Nur Aisyah Athirah
00000720 Lip Hen Moey et al.(2018) M Malaysia Pakistani - - - FBP1D Age onset: infancy, has Hypoglycemia, metabolic acidosis. FBP1 FBP1 1 1 Nur Aisyah Athirah
00000721 Lip Hen Moey et al.(2018) M Malaysia Malay - - - FBP1D Age onset: 15m, Severe metabolic acidosis, hyperlactacidemia, ketotic hypoglycemia, hepatomegaly, status epilepticus precipitated by fever and reduced oral intake, Left hemiparesis, mild development delay. FBP1 FBP1 1 1 Nur Aisyah Athirah
00000722 Lip Hen Moey et al.(2018) F Malaysia Indian - - - FBP1D Severe metabolic acidosis, hyperlactacidemia. Passed away after two weeks in intensive care due to sepsis and multiorgan failure. FBP1 FBP1 1 1 Nur Aisyah Athirah
00000723 Lip Hen Moey et al.(2018) M Malaysia Chinese - - - FBP1D Age onset: 22d, severe metabolic acidosis, hyperlactacidemia, hypoglycemia and hepatomegaly FBP1 FBP1 1 1 Nur Aisyah Athirah
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