2.01.e

Disorders of glycerophospholipid metabolism

Disorders of phosphatidylcholine, phosphatidylserine and phosphatidylethanolamine metabolism

  • Ethanolaminephosphotransferase 1 deficiency
  • Choline kinase beta deficiency (Congenital muscular dystrophy, megaconial type)
  • Phosphocholine cytidylyltransferase 1 alpha deficiency, retinoskeletal phenotype
  • Phosphocholine cytidylyltransferase 1 alpha deficiency, lipodystrophy phenotype
  • Phosphocholine cytidylyltransferase 2 deficiency
  • Phosphatidylserine synthase 1 superactivity (Lenz-Majewski syndrome)
  • Phosphatidylserine flippase deficiency (Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 4)
  • Lysophosphatidylinositol acyltransferase 1 deficiency
  • Phospholipase A2 group 6 deficiency (Infantile neuroaxonal dystrophy; Seitelberger disease; neurodegeneration with brain iron accumulation type 2B)
  • DDHD1 deficiency (Autosomal recessive spastic paraplegia type 28)
  • DDHD2 deficiency (Autosomal recessive spastic paraplegia type 54)
  • PNPLA6 deficiency (Autosomal recessive spastic paraplegia type 39; Oliver-McFarlane syndrome; Boucher-Neuhauser syndrome; Laurence-Moon syndrome)
  • ABHD12 deficiency (Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract syndrome – PHARC syndrome)
  • CYP2U1 deficiency (Autosomal recessive spastic paraplegia type 56)
  • Diacylglycerol kinase epsilon deficiency (Nephrotic syndrome type 7; atypical hemolytic uremic syndrome type 7)
  • Lipase H deficiency (Membrane-associated phosphatidic acid-selective phospholipase A1 deficiency – MPAPLA1 deficiency; autosomal recessive wooly hair type 2; hypotrichosis type 7)
  • Lysophosphatidic acid receptor 6 deficiency (Autosomal recessive wooly hair type 1; hypotrichosis type 8)
  • Lysophosphatidylcholine-esterified long-chain fatty acid transporter deficiency (Autosomal recessive primary microcephaly type 15)
  • Fatty acid amide hydrolase 2 deficiency

Disorders of phosphatidylinositol metabolism

  • Phosphatidylinositol-3,5-bisphosphate 5-phosphatase deficiency, neurologic phenotype (Amyotrophic lateral sclerosis type 11, dominant; Charcot-Marie- Tooth disease type 4J, recessive)
  • Phosphatidylinositol-3,5-bisphosphate 5-phosphatase deficiency, neuroskeletal phenotype (Yunis-Varon syndrome)
  • Phosphatidylinositol-4,5-bisphosphate 5-phosphatase deficiency (Lowe syndrome, Dent disease type 2)
  • Synaptojanin 1 deficiency (Early infantile epileptic encephalopathy type 53; early- onset Parkinson disease type 2)
  • Myotubularin 1 deficiency (X-linked myotubular myopathy)
  • Myotubularin-related protein 2 deficiency (Charcot-Marie-Tooth disease type 4B1)
  • Myotubularin-related protein 2 regulatory protein deficiency (Charcot-Marie-Tooth disease type 4B2)
  • Myotubularin-related protein 2 activator deficiency (Charcot-Marie-Tooth disease type 4B3)
  • Catalytic phosphatidylinositol 3-kinase subunit alpha superactivity
  • Catalytic phosphatidylinositol 3-kinase subunit delta superactivity (Immunodeficiency type 14)
  • Phosphatidylinositol 3-kinase regulatory subunit 1 deficiency (SHORT syndrome, immunodeficiency type 36)
  • Phosphatidylinositol 3-kinase regulatory subunit 2 superactivity (Megalencephaly- polymicrogyria-polydactyly-hydrocephalus syndrome type 1)
  • Phosphatidylinositol-4,5-bisphosphate 3-kinase regulatory subunit deficiency (Ataxia- oculomotor apraxia type 3)
  • Phosphatidylinositol-3-phosphate 5-kinase deficiency (Corneal fleck dystrophy)
  • VAC14 deficiency (Childhood-onset striatonigral degeneration)
  • Phosphatidylinositol-4-phosphate 5-kinase deficiency (Lethal congenital contractural syndrome type 3)
  • Phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha deficiency (Oculoskeletodental syndrome)
  • Phosphatidylinositol 4-kinase type 2 alpha deficiency
  • Phosphatidylinositol 4-kinase type 3 alpha deficiency (Perisylvian polymicrogyria with cerebellar hypoplasia and arthrogryposis)
  • Phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase deficiency (PTEN hamartoma tumor syndrome)
  • Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase deficiency (Opsismodysplasia)
  • Inositol polyphosphate 5-phosphatase E deficiency (Joubert syndrome type 1)
  • Inositol polyphosphate 5-phosphatase K deficiency (Congenital muscular dystrophy with cataracts and intellectual disability)
  • Phosphatidylinositol-4,5-bisphosphate phospholipase C beta 1 deficiency (Early infantile epileptic encephalopathy type 12)
  • Phosphatidylinositol-4,5-bisphosphate phospholipase C beta 3 deficiency (Spondylometaphyseal dysplasia with corneal dystrophy and developmental delay)
  • Phosphatidylinositol-4,5-bisphosphate phospholipase C beta 4 deficiency (Auriculocondylar syndrome type 2)
  • Phosphatidylinositol-4,5-bisphosphate phospholipase C gamma 2 deficiency (Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation – APLAID; familial cold autoinflammatory syndrome type 3)
  • Phosphatidylinositol-4,5-bisphosphate phospholipase C delta 1 deficiency (Nonsyndromic congenital nail disorder type 3; leukonychia totalis and/or partialis)
  • Phosphatidylinositol-4,5-bisphosphate phospholipase C epsilon 1 deficiency (Nephrotic syndrome type 3)
  • Inositol-1,4,5-triphosphate receptor type 1 deficiencyn (Gillespie syndrome; congenital non- progressive cerebellar ataxia; spinocerebellar ataxia type 15)
  • Inositol-1,4,5-triphosphate receptor type 2 deficiency (Isolated anhidrosis with normal sweat glands)

Disorders of ether lipid metabolism

  • Peroxisomal targeting signal 2 receptor deficiency (Rhizomelic chondrodysplasia punctata type 1, severe; classic Refsum disease type 2, milder)
  • Glycerone 3-phosphate acyltransferase deficiency (Rhizomelic chondrodysplasia punctata type 2)
  • Alkylglycerone 3-phosphate synthase deficiency (Rhizomelic chondrodysplasia punctata type 3)
  • Fatty acyl-CoA reductase 1 deficiency
  • Peroxin 5 long isoform deficiency (Rhizomelic chondrodysplasia punctata type 5)
  • Alkylglycerol monooxygenase deficiency

Subnetworks

PD 1 1

PD

Peroxisomal and lipid-related disorders

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