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Decreased O-mannosyl glycans on alpha-dystroglycan

MedGen UID:
Concept ID:
Synonym: Reduced O-mannosyl glycans on alpha-dystroglycan
HPO: HP:0410362


Hypoglycosylation of alpha-dystroglycan with O-mannosyl glycans. Alpha-dystroglycan is a functional target of O-mannosyl glycosylation and functional glycosylation of alpha-DG is essential in its interaction with the extracellular matrix. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased O-mannosyl glycans on alpha-dystroglycan

Conditions with this feature

Congenital muscular dystrophy with intellectual disability and severe epilepsy
MedGen UID:
Concept ID:
Disease or Syndrome
A rare fatal inborn error of metabolism disorder with characteristics of respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34.

Recent clinical studies

Clinical prediction guides

Morava E, Willemsen MA, Wopereis S, Ter Laak H, Lefeber D, Wevers RA, Cruysberg JR
Eur J Ophthalmol 2006 Jan-Feb;16(1):190-4. doi: 10.1177/112067210601600134. PMID: 16496270

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