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DPM1-CDG
1 OMIM reference -
1 associated gene
8 connected diseases
5 signs/symptoms
Disease Type of connection
DPM3-CDG
Burkitt lymphoma
Precursor T-cell acute lymphoblastic leukemia
Congenital muscular dystrophy with intellectual disability and severe epilepsy
Acute promyelocytic leukemia
CLN3 disease
Cerebellar ataxia - hypogonadism
Glycogen storage disease due to liver phosphorylase kinase deficiency
Synonym(s):
- CDG syndrome type Ie
- CDG-Ie
- CDG1E
- Carbohydrate deficient glycoprotein syndrome type Ie
- Congenital disorder of glycosylation type 1e
- Congenital disorder of glycosylation type Ie
- Dol-P-mannosyltransferase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
DPM1 O60762603503
Very frequent
- Anomalies of eyes and vision
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Seizures / epilepsy / absences / spasms / status epilepticus