What is ALPHA-MANNOSIDOSIS?

rare (50-100 cases) autosomal recessive mutation in the MAN2B1 gene Type I = severe, infantile Type II = milder, juvenile/adult (rare)

ALPHA-MANNOSIDOSIS

Disease	ALPHA-MANNOSIDOSIS
Synonym	MANNOSIDOSIS, ALPHA-; MANNOSIDOSIS
OMIM	248500 OMIM = Online Mendelian Inheritance of Men
Orphanet	61
Protein (UniProt)	Lysosomal alpha-mannosidase
ExPASy	3.2.1.24
Gene locus	19p13.13
ICD	E77.1
Summary	rare (50-100 cases) autosomal recessive mutation in the MAN2B1 gene Type I = severe, infantile Type II = milder, juvenile/adult (rare)
Laboratory findings	alpha-Mannosidase dec (leucocytes) alpha-Mannosidase dec (plasma) alpha-Mannosidase dec (fibroblasts) Lymphocytes, vacuoles (blood) Oligosaccharides inc (urine)
Symptoms	coarse facial features hearing defect, deafness ataxia dysostosis multiplex immunodeficiency intellectual disability/intellectual developmental disorder macrocephaly (large calvaria, >2 SD for age) psychosis cataract cerebellar atrophy or hypoplasia corneal clouding corneal deposits dysmorphism early death hepatomegaly (large liver) hernia hyperphagia infections (severe or recurrent) mental retardation motor retardation MRI, brain, abnormalities [-] onset, childhood onset, infancy pancytopenia psychomotor retardation skeletal changes, skeletal abnormalities speech development, delayed, abnormal splenomegaly (large spleen) umbilical hernia