Lipase H deficiency

Synonym(s)
- Membrane-related phosphatidic acid-selective phospholipase A1 (MPAPLA1) deficiency,
- autosomal recessive wooly hair type 2,
- hypotrichosis type 7
Type

Disease
External link(s)
- IEMbase
Gene
- LIPH / Lipase H
  3q27.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Lipase H
Disease group(s)
- 14.5.1 Disorders of phosphatidylcholine, phosphatidylserine and phosphatidylethanolamine metabolism