X-linked Ornithine transcarbamylase peroxins () (PEX7, GNPAT, and AGPS) ABC transporter or Peroxisome Disorders adrenoleukodystrophy Autosomal recessive protein (ABCD1) acyl-CoA Autosomal recessive oxidase X-linked (ACOX1) Autosomal recessive dehydrogenase IV Autosomal recessive (HSD17B4) plasma membrane carnitine Autosomal recessive transporter, OCTN2 (SLC22A5) Autosomal recessive pyruvate carboxylase pyruvate dehydrogenase X-linked recessive complex (PDHA1) Autosomal recessive phytanoyl-CoA hydroxylase perlecan, a heparin sulfate Type I Type II SJS SJS proteoglycan (HSPG2) Autosomal recessive leukemia inhibitory factor receptor (LIFR) short-chain acyl-CoA Autosomal recessive dehydrogenase (ACADS) 3-hydroxyacyl-CoA Autosomal recessive dehydrogenase (HADH) sphingomyelinase (SMPD1) (GBA) galactosylceramide beta-galactosidase Sphingolipidoses A Autosomal recessive alpha Autosomal recessive subunits of Autosomal recessive hexosaminidase A, beta X-linked subunits of Autosomal recessive (, , ) Autosomal recessive Autosomal recessive activator arylsulfatase Autosomal recessive A/sphingolipid activator Autosomal recessive Protein Autosomal recessive (SAP) ceramidase A (CTSA) cathepsin succinic semialdehyde Autosomal recessive dehydrogenase (ALDH5A1) Autosomal recessive cystatin B (CST6) Autosomal dominant protoporphyrinogen oxidase very long-chain acyl-CoA Autosomal recessive dehydrogenase (ACADVL) copper-transporting Autosomal recessive adenosine triphosphatase (ATPase) gene (ATP7B)
X-linked Ornithine transcarbamylase Peroxisome Disorders Autosomal recessive Autosomal recessive X-linked Autosomal recessive Autosomal recessive peroxins () (PEX7, GNPAT, and AGPS) ABC transporter or adrenoleukodystrophy protein (ABCD1) acyl-CoA oxidase (ACOX1) dehydrogenase IV (HSD17B4) Autosomal recessive plasma membrane carnitine transporter, OCTN2 (SLC22A5) Autosomal recessive pyruvate carboxylase X-linked recessive pyruvate dehydrogenase complex (PDHA1) Autosomal recessive phytanoyl-CoA hydroxylase SJS Type I SJS Type II Autosomal recessive perlecan, a heparin sulfate proteoglycan (HSPG2) leukemia inhibitory factor receptor (LIFR) Autosomal recessive short-chain acyl-CoA dehydrogenase (ACADS) Autosomal recessive 3-hydroxyacyl-CoA dehydrogenase (HADH) Sphingolipidoses (, , ) Autosomal recessive Autosomal recessive Autosomal recessive X-linked Autosomal recessive Autosomal recessive Autosomal recessive Autosomal recessive Autosomal recessive Autosomal recessive sphingomyelinase (SMPD1) (GBA) galactosylceramide beta-galactosidase A alpha subunits of A, beta subunits of hexosaminidase activator arylsulfatase A/sphingolipid activator Protein (SAP) ceramidase cathepsin A (CTSA) Autosomal recessive succinic semialdehyde dehydrogenase (ALDH5A1) Autosomal recessive cystatin B (CST6) Autosomal dominant protoporphyrinogen oxidase Autosomal recessive very long-chain acyl-CoA dehydrogenase (ACADVL) Autosomal recessive copper-transporting adenosine triphosphatase (ATPase) gene (ATP7B)
Hereditary_diseases.docx