COG4-CDG

General Information (adopted from Orphanet):

Synonyms, Signs: CDG2J
Carbohydrate deficient glycoprotein syndrome type IIj
CDGIIj
CDG IIj
Congenital disorder of glycosylation type IIj
CDG-IIj
CDG syndrome type IIj
Number of Symptoms 41
OrphanetNr: 263501
OMIM Id: 613489
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
Defect in conserved oligomeric Golgi complex
 -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:0001999) Abnormal facial shape rare [HPO:skoehler] 169 / 7739
2
 (HPO:0000252) Microcephaly rare [HPO:skoehler] 832 / 7739
3
 (HPO:0000639) Nystagmus rare [HPO:skoehler] 555 / 7739
4
 (HPO:0000737) Irritability 93 / 7739
5
 (HPO:0001344) Absent speech 57 / 7739
6
 (HPO:0001251) Ataxia 413 / 7739
7
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
8
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
9
 (HPO:0002014) Diarrhea 225 / 7739
10
 (HPO:0001744) Splenomegaly rare [HPO:skoehler] 337 / 7739
11
 (HPO:0004798) Recurrent infection of the gastrointestinal tract rare [HPO:skoehler] 9 / 7739
12
 (HPO:0011968) Feeding difficulties rare [HPO:skoehler] 240 / 7739
13
 (HPO:0002240) Hepatomegaly rare [HPO:skoehler] 467 / 7739
14
 (HPO:0001399) Hepatic failure rare [HPO:skoehler] 80 / 7739
15
 (HPO:0001394) Cirrhosis rare [HPO:skoehler] 102 / 7739
16
 (HPO:0002028) Chronic diarrhea rare [HPO:skoehler] 51 / 7739
17
 (HPO:0002910) Elevated hepatic transaminases 158 / 7739
18
 (HPO:0001510) Growth delay 295 / 7739
19
 (HPO:0001508) Failure to thrive rare [HPO:skoehler] 454 / 7739
20
 (HPO:0100874) Thick hair rare [HPO:skoehler] 7 / 7739
21
 (HPO:0003155) Elevated alkaline phosphatase 52 / 7739
22
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
23
 (HPO:0001324) Muscle weakness 859 / 7739
24
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
25
 (HPO:0010547) Muscle flaccidity 466 / 7739
26
 (HPO:0001252) Muscular hypotonia 990 / 7739
27
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
28
 (HPO:0002059) Cerebral atrophy 171 / 7739
29
 (OMIM) Some fragmented or disrupted Golgi 1 / 7739
30
 (OMIM) Peripheral hypertonia 4 / 7739
31
 (OMIM) Impaired O-glycosylation 1 / 7739
32
 (OMIM) Impaired N-glycosylation 1 / 7739
33
 (OMIM) Lack of speech 17 / 7739
34
 (OMIM) Serum transferrin isoelectric focusing shows type 2 pattern 1 / 7739
35
 (OMIM) Sialylation defects 1 / 7739
36
 (OMIM) Delayed psychomotor development, moderate to severe 2 / 7739
37
 (OMIM) Galactosylation defects 1 / 7739
38
 (HPO:0002079) Hypoplasia of the corpus callosum rare [HPO:skoehler] 161 / 7739
39
 (MedDRA:10009736) Coagulation factor decreased 1 / 7739
40
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
41
 (OMIM) Uncoordinated movements 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Reynders et al. (2009) reported a Portuguese boy, born of unrelated parents, with CDG type II. He presented at age 4 months with fever, progressive irritability, and complex seizures after a vaccination. He had mild dysmorphic features, such ...
Molecular genetics OMIM Reynders et al. (2009) reported a Portuguese patient with congenital disorder of glycosylation type IIj and identified compound heterozygosity for a missense mutation in the COG4 gene and a large deletion encompassing most COG4 exons (606976.0001-606976.0002, respectively). ...