Table 2.

Disorders to Consider in the Differential Diagnosis of Alpha-Mannosidosis

DisorderGene(s)MOIClinical & Laboratory Features of Disorder
Overlapping w/α-mannosidosisDistinguishing from α-mannosidosis
Mucopolysaccharidoses (See MPS I.)ManyAR
XL
Coarse facial features, dysostosis multiplex, IDShort stature, contractures
Sialidosis
(OMIM 256550)
NEU1 ARCoarse facial features, dysostosis multiplex, IDCherry red spot of the macula
Mucolipidosis II (See GNPTAB-Related Disorders.) GNPTAB ARCoarse facial features, dysostosis multiplexShort stature, failure to thrive
Mucolipidosis III alpha/beta (See GNPTAB-Related Disorders.) GNPTAB ARCoarse facial features, dysostosis multiplexShort stature, normal-to-mildly impaired cognitive development
Cantú syndrome ABCC9
KCNJ8
ADCoarse facial features, thickened ribsHeart defects, hypertrichosis
Sialuria (OMIM 269921) GNE ADHypotonia, coarse facial features, DD, frequent upper-respiratory infectionsJoint stiffness, seizures, microcytic anemia

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

From: Alpha-Mannosidosis

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