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congenital disorder of glycosylation type 1A; carbohydrate-deficient glycoprotein syndrome type 1A; Jaeken syndrome
Also see congenital disorder of glycosylation
Genetics:
- autosomal recessive
- associated with defects in PMM2
Clinical manifestations:
- see congenital disorder of glycosylation
- type 1A is associated with
a) severe encephalopathy with axial hypotonia
b) abnormal eye movement
c) psychomotor retardation
d) peripheral neuropathy
e) cerebellar hypoplasia
e) retinitis pigmentosa
f) peculiar distribution of subcutaneous fat
g) nipple retraction
h) hypogonadism
Laboratory:
- PMM2 gene mutation
Related
mannose-6-phosphate isomerase; phosphomannose isomerase; PMI; phosphohexomutase (MPI, PMI1)
General
congenital disorder of glycosylation
Database Correlations
OMIM 212065
References
OMIM :accession 212065