Table 2.

Genes of Interest in the Differential Diagnosis of Alpha-Mannosidosis

Gene(s)DisorderMOIKey Clinical Features of Disorder
Overlapping w/alpha-mannosidosisDistinguishing from alpha-mannosidosis
ABCC9
KCNJ8 		Cantú syndrome AD
  • Coarse facial features
  • Thickened ribs
  • Heart defects
  • Hypertrichosis
ARSB
ARSK
GALNS
GLB1
GNS
GUSB
HGSNAT
HYAL1
IDS
IDUA
NAGLU
SGSH 		Mucopolysaccharidoses (OMIM PS607014)AR
XL 1
  • Coarse facial features
  • Dysostosis multiplex
  • ID
  • Short stature
  • Contractures
GNE Sialuria (OMIM 269921)AD
  • Hypotonia
  • Coarse facial features
  • DD
  • Frequent upper respiratory infections
  • Joint stiffness
  • Seizures
  • Microcytic anemia
GNPTAB Mucolipidosis II (See GNPTAB-Related Disorders.)AR
  • Coarse facial features
  • Dysostosis multiplex
  • Short stature
  • Failure to thrive
Mucolipidosis IIIα/β (See GNPTAB-Related Disorders.)
  • Short stature
  • Normal-to-mildly impaired cognitive development
NEU1 Sialidosis (OMIM 256550)AR
  • Coarse facial features
  • Dysostosis multiplex
  • ID
Cherry-red spot of the macula
SUMF1 Multiple sulfatase deficiency AR
  • Similar to MPS II
  • DD
  • Poor feeding
  • Retinopathy

AD = autosomal dominant; AR = autosomal recessive; DD = developmental delay; ID = intellectual disability; MOI = mode of inheritance; XL = X-linked

1.

The mucopolysaccharidoses are inherited in an autosomal recessive manner with the exception of mucopolysaccharidosis type II, which is associated with pathogenic variants in IDS and inherited in an X-linked manner.

From: Alpha-Mannosidosis

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