GCS1-CDG

General Information (adopted from Orphanet):

Synonyms, Signs: GLUCOSIDASE I DEFICIENCY
CDG2B
Glucosidase 1 deficiency
Congenital disorder of glycosylation type 2b
CDGIIb
CDG syndrome type IIb
CDG-IIb
Carbohydrate deficient glycoprotein syndrome type IIb
CDG IIb
Congenital disorder of glycosylation type IIb
Number of Symptoms 32
OrphanetNr: 79330
OMIM Id: 606056
ICD-10: E77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
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
Disorder of protein N-glycosylation
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000218) High palate 356 / 7739
2
 (HPO:0000527) Long eyelashes 46 / 7739
3
 (HPO:0000445) Wide nose 190 / 7739
4
 (HPO:0000269) Prominent occiput 43 / 7739
5
 (HPO:0000278) Retrognathia 100 / 7739
6
 (HPO:0000581) Blepharophimosis 197 / 7739
7
 (HPO:0000648) Optic atrophy 238 / 7739
8
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
9
 (HPO:0001263) Global developmental delay 853 / 7739
10
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
11
 (HPO:0010557) Overlapping fingers 9 / 7739
12
 (HPO:0002757) Recurrent fractures 47 / 7739
13
 (HPO:0002943) Thoracic scoliosis 12 / 7739
14
 (HPO:0001188) Hand clenching 9 / 7739
15
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
16
 (HPO:0002240) Hepatomegaly 467 / 7739
17
 (HPO:0011968) Feeding difficulties 240 / 7739
18
 (HPO:0001399) Hepatic failure Very frequent [Orphanet] 80 / 7739
19
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
20
 (HPO:0004313) Decreased antibody level in blood 47 / 7739
21
 (HPO:0002791) Hypoventilation 10 / 7739
22
 (HPO:0010547) Muscle flaccidity 466 / 7739
23
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
24
 (HPO:0001324) Muscle weakness 859 / 7739
25
 (HPO:0001252) Muscular hypotonia 990 / 7739
26
 (HPO:0002059) Cerebral atrophy 171 / 7739
27
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
28
 (OMIM) Abnormal urinary oligosaccharides 1 / 7739
29
 (HPO:0012745) Short palpebral fissure 47 / 7739
30
 (OMIM) Normal isoelectric focusing of serum transferrin 1 / 7739
31
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
32
 (OMIM) Glucosidase I deficiency in liver and fibroblasts 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM De Praeter et al. (2000) reported a neonate with severe generalized hypotonia and dysmorphic features. The patient was born at 36 weeks' gestation after an uneventful pregnancy and delivery. Marked generalized hypotonia and hypomotility were noticed, as were ...
Molecular genetics OMIM In a patient with CDG2B, De Praeter et al. (2000) identified compound heterozygosity for 2 mutations in the GCS1 gene (601336.0001-601336.0002).