CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl

General Information (adopted from Orphanet):

Synonyms, Signs: CDG2L
CDGIIl
CDG IIl
Number of Symptoms 32
OrphanetNr:
OMIM Id: 614576
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Congenital onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000114) Proximal tubulopathy rare [HPO:skoehler] 18 / 7739
2
(HPO:0000252) Microcephaly 832 / 7739
3
(HPO:0000278) Retrognathia rare [HPO:skoehler] 100 / 7739
4
(HPO:0007185) Loss of consciousness 9 / 7739
5
(HPO:0001263) Global developmental delay 853 / 7739
6
(HPO:0001250) Seizures 1245 / 7739
7
(HPO:0100259) Postaxial polydactyly rare [HPO:skoehler] 85 / 7739
8
(HPO:0001162) Postaxial hand polydactyly 119 / 7739
9
(HPO:0002240) Hepatomegaly rare [HPO:skoehler] 467 / 7739
10
(HPO:0002028) Chronic diarrhea rare [HPO:skoehler] 51 / 7739
11
(HPO:0001403) Macrovesicular hepatic steatosis rare [HPO:skoehler] 7 / 7739
12
(HPO:0002014) Diarrhea 225 / 7739
13
(HPO:0002037) Inflammation of the large intestine rare [HPO:skoehler] 25 / 7739
14
(HPO:0001413) Micronodular cirrhosis rare [HPO:skoehler] 11 / 7739
15
(HPO:0002910) Elevated hepatic transaminases rare [HPO:skoehler] 158 / 7739
16
(HPO:0001508) Failure to thrive 454 / 7739
17
(HPO:0004313) Decreased antibody level in blood rare [HPO:skoehler] 47 / 7739
18
(HPO:0005435) Impaired T cell function rare [HPO:skoehler] 9 / 7739
19
(HPO:0004432) Agammaglobulinemia 17 / 7739
20
(HPO:0012301) Type II transferrin isoform profile 6 / 7739
21
(HPO:0002719) Recurrent infections rare [HPO:skoehler] 107 / 7739
22
(HPO:0008936) Muscular hypotonia of the trunk rare [HPO:skoehler] 77 / 7739
23
(OMIM) Broad palpebral fissures (1 patient) 1 / 7739
24
(OMIM) Anal anteposition (1 patient) 1 / 7739
25
(OMIM) Primary combined immunodeficiency (1 patient) 1 / 7739
26
(HPO:0003577) Congenital onset 133 / 7739
27
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
28
(OMIM) Bleeding due to vitamin K deficiency (1 patient) 1 / 7739
29
(OMIM) Granulocyte dysfunction (1 patient) 1 / 7739
30
(HPO:0001522) Death in infancy 275 / 7739
31
(OMIM) Intracranial bleeding 4 / 7739
32
(OMIM) Delayed psychomotor development, mild 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lubbehusen et al. (2010) reported a female infant, born of nonconsanguineous Turkish parents, with a severe neurologic disorder resulting in death at 5 weeks of age. At birth, she showed intractable focal seizures, vomiting, and loss of consciousness ...
Molecular genetics OMIM In a patient with fatal congenital disorder of glycosylation type IIl, Lubbehusen et al. (2010) identified a homozygous mutation in the COG6 gene (G549V; 606977.0001). Northern blot analysis showed reduced COG6 mRNA (15% of controls), indicating instability of ...