alpha-N-acetyl neuraminidase (NEU1) Mucolipidoses Autosomal recessive Mucolipidosis I (Sialidosis) Autosomal recessive (GNPTAB) Autosomal recessive Autosomal recessive (GNPTAB) 1 mucolipidin (MCOLN1) alpha-L-iduronidase (IDUA) Mucopolysaccharidoses (IDUA) Autosomal recessive Type I H (Hurler syndrome) Autosomal recessive Type I H/S (Hurler-Scheie syndrome) (IDUA) iduronate sulfatase Autosomal recessive Type I S (Scheie syndrome) (IDS) X-linked recessive iduronate sulfatase Type II A (Hunter syndrome, severe) (IDS) heparan X-linked recessive Type II B (Hunter syndrome, mild) Autosomal recessive galactose Autosomal recessive ) (GALNS) arylsulfatase Autosomal recessive B beta-glucuronidase Autosomal recessive (GUSB) electron transfer flavoprotein (ETFA,ETFB) Autosomal recessive electron transfer flavoprotein dehydrogenase (ETFDH) myoadenylate deaminase or Autosomal recessive adenosine monophosphate (AMP) deaminase (AMPD1) microsomal triglyceride Neuroacanthocytosis Autosomal recessive transfer protein Autosomal recessive apolipoprotein B (APOB) Autosomal recessive chorein (VPS13A) X-linked Kell blood group protein Autosomal dominant junctophilin-3 (JPH3) Autosomal recessive pantothenatekinase 2 (PANK2) (NAGA) Oligosaccharidoses Autosomal recessive (MAN2B1) Autosomal recessive Autosomal recessive (MANBA) Autosomal recessive (FUCA1) Autosomal recessive alpha-N-acetyl Autosomal recessive neuraminidase (NEU1) (AGA)
Mucolipidoses Mucolipidosis I (Sialidosis) Autosomal recessive Autosomal recessive Autosomal recessive Autosomal recessive alpha-N-acetyl neuraminidase (NEU1) (GNPTAB) (GNPTAB) mucolipidin 1 (MCOLN1) Mucopolysaccharidoses Type I H (Hurler syndrome) Type I H/S (Hurler-Scheie syndrome) Type I S (Scheie syndrome) Type II A (Hunter syndrome, severe) Type II B (Hunter syndrome, mild) ) Autosomal recessive Autosomal recessive Autosomal recessive X-linked recessive X-linked recessive Autosomal recessive Autosomal recessive Autosomal recessive Autosomal recessive alpha-L-iduronidase (IDUA) (IDUA) (IDUA) iduronate sulfatase (IDS) iduronate sulfatase (IDS) heparan galactose (GALNS) arylsulfatase B beta-glucuronidase (GUSB) Autosomal recessive electron transfer flavoprotein (ETFA,ETFB) electron transfer flavoprotein dehydrogenase (ETFDH) Autosomal recessive myoadenylate deaminase or adenosine monophosphate (AMP) deaminase (AMPD1) Neuroacanthocytosis Autosomal recessive Autosomal recessive Autosomal recessive X-linked Autosomal dominant Autosomal recessive microsomal triglyceride transfer protein apolipoprotein B (APOB) chorein (VPS13A) Kell blood group protein junctophilin-3 (JPH3) pantothenatekinase 2 (PANK2) Oligosaccharidoses Autosomal recessive Autosomal recessive Autosomal recessive Autosomal recessive Autosomal recessive Autosomal recessive (NAGA) (MAN2B1) (MANBA) (FUCA1) alpha-N-acetyl neuraminidase (NEU1) (AGA)
Hereditary_diseases.docx