Congenital muscular dystrophy with intellectual disability and severe epilepsy

General Information (adopted from Orphanet):

Synonyms, Signs: DPM2-CDG
CDG1U
Congenital disorder of glycosylation type Iu
CDG-Iu
Carbohydrate deficient glycoprotein syndrome type Iu
CDG Iu
CDG syndrome type Iu
CDGIu
CMD with intellectual disability and severe epilepsy
Number of Symptoms 30
OrphanetNr: 329178
OMIM Id: 615042
ICD-10: E77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital disorder of glycosylation with epilepsy as a major feature
 -Rare genetic disease
 -Rare neurologic disease
Congenital disorder of glycosylation with hepatic involvement
 -Rare genetic disease
 -Rare hepatic disease
Congenital muscular dystrophy due to dystroglycanopathy
 -Rare genetic disease
 -Rare neurologic disease
Disorder of multiple glycosylation
 -Rare genetic disease
Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000601) Hypotelorism 83 / 7739
2
 (HPO:0003196) Short nose 264 / 7739
3
 (HPO:0002058) Myopathic facies 26 / 7739
4
 (HPO:0000218) High palate 356 / 7739
5
 (HPO:0005484) Postnatal microcephaly 32 / 7739
6
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
7
 (HPO:0000347) Micrognathia 426 / 7739
8
 (HPO:0000486) Strabismus 576 / 7739
9
 (HPO:0000648) Optic atrophy frequent [HPO:skoehler] 238 / 7739
10
 (HPO:0001250) Seizures 1245 / 7739
11
 (HPO:0002476) Primitive reflex 9 / 7739
12
 (HPO:0001263) Global developmental delay 853 / 7739
13
 (HPO:0002650) Scoliosis 705 / 7739
14
 (HPO:0002803) Congenital contracture 45 / 7739
15
 (HPO:0011968) Feeding difficulties 240 / 7739
16
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
17
 (HPO:0006829) Severe muscular hypotonia 29 / 7739
18
 (OMIM) Refractory seizures 15 / 7739
19
 (OMIM) Reduced O-mannosyl glycans on alpha-dystroglycan 1 / 7739
20
 (HPO:0001522) Death in infancy 275 / 7739
21
 (OMIM) Loss of cerebral white matter (in 1 of 3 patients) 1 / 7739
22
 (OMIM) Dystrophic changes seen on muscle biopsy 2 / 7739
23
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
24
 (OMIM) Abnormal N-glycosylation of transferrin 1 / 7739
25
 (HPO:0003577) Congenital onset 133 / 7739
26
 (OMIM) Respiratory distress at birth 1 / 7739
27
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
28
 (OMIM) Increased serum transaminases 2 / 7739
29
 (OMIM) Absence of spontaneous movements 1 / 7739
30
 (OMIM) Fibroblasts accumulate Dol-PP-GlcNAc2Man5 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Barone et al. (2012) reported 3 patients from 2 unrelated families with a severe multisystem and neurologic phenotype resulting in early death. Two brothers, born of consanguineous Sicilian parents, had originally been reported by Messina et al. (2009). ...
Molecular genetics OMIM In 3 patients from 2 unrelated Sicilian families with CDG1U, Barone et al. (2012) identified homozygous or compound heterozygous mutations in the DPM2 gene (603564.0001 and 603564.0002). DPM activity was severely decreased in patient fibroblasts.