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Diseases
LIPID METABOLISM AND TRANSPORT
14 Disorders of lipid metabolism
14.5 Disorders of glycerophospholipid metabolism
14.5.1 Disorders of phosphatidylcholine, phosphatidylserine and phosphatidylethanolamine metabolism
Ethanolaminephosphotransferase 1 deficiency
Choline kinase alpha deficiency
Choline kinase beta deficiency
Phosphocholine cytidylyltransferase 1 alpha deficiency, retinoskeletal phenotype
Phosphocholine cytidylyltransferase 2 deficiency
PTDSS1-related disease
Phosphatidylserine flippase deficiency
Phospholipid transporter ATPase 11A deficiency
Phospholipid transporter ATPase 11C deficiency
Lysophosphatidylinositol acyltransferase 1 deficiency
Phospholipase A2 group 6 deficiency
DDHD1 deficiency
DDHD2 deficiency
PNPLA6 deficiency
ABHD16A deficiency
ABHD12 deficiency
CYP2U1 deficiency
Diacylglycerol kinase epsilon deficiency
Lipase H deficiency
Lysophosphatidic acid receptor 6 deficiency
Lysophosphatidylcholine-esterified long-chain fatty acid transporter deficiency
Fatty acid amide hydrolase 2 deficiency
Scott syndrome
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
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Home
Diseases
LIPID METABOLISM AND TRANSPORT
14 Disorders of lipid metabolism
14.5 Disorders of glycerophospholipid metabolism
14.5.1 Disorders of phosphatidylcholine, phosphatidylserine and phosphatidylethanolamine metabolism
Ethanolaminephosphotransferase 1 deficiency
Choline kinase alpha deficiency
Choline kinase beta deficiency
Phosphocholine cytidylyltransferase 1 alpha deficiency, retinoskeletal phenotype
Phosphocholine cytidylyltransferase 2 deficiency
PTDSS1-related disease
Phosphatidylserine flippase deficiency
Phospholipid transporter ATPase 11A deficiency
Phospholipid transporter ATPase 11C deficiency
Lysophosphatidylinositol acyltransferase 1 deficiency
Phospholipase A2 group 6 deficiency
DDHD1 deficiency
DDHD2 deficiency
PNPLA6 deficiency
ABHD16A deficiency
ABHD12 deficiency
CYP2U1 deficiency
Diacylglycerol kinase epsilon deficiency
Lipase H deficiency
Lysophosphatidic acid receptor 6 deficiency
Lysophosphatidylcholine-esterified long-chain fatty acid transporter deficiency
Fatty acid amide hydrolase 2 deficiency
Scott syndrome
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
Lysophosphatidylcholine-esterified long-chain fatty acid transporter deficiency
Synonym(s)
Autosomal recessive primary microcephaly type 15
Type
Disease
External link(s)
IEMbase
Gene
MFSD2A
/ Major Facilitator Superfamily Domain Containing 2A
1p34.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Major facilitator superfamily domain-containing protein 2A
Disease group(s)
14.5.1 Disorders of phosphatidylcholine, phosphatidylserine and phosphatidylethanolamine metabolism