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GCS1-CDG
1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
B-cell chronic lymphocytic leukemia
6 OMIM references -
7 associated genes
No signs/symptoms info
GCS1-CDG
B-cell chronic lymphocytic leukemia

MOGS
(UniProt - OMIM)
 ARL11
(UniProt - OMIM)
ATM
(UniProt - OMIM)
CCND1
(UniProt - OMIM)
IGHG1
(UniProt - OMIM)
IGHV3-21
()
POT1
(UniProt - OMIM)
TP53
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MOGS
(0.63)
TP53


Citations in the biomedical literature:


GCS1-CDG
MOGS
B-cell chronic lymphocytic leukemia
ARL11 ATM CCND1 IGHG1 IGHV3-21 POT1
TP53



GCS1-CDG
B-cell chronic lymphocytic leukemia

Synonym(s):
- CDG syndrome type IIb
- CDG-IIb
- CDG2B
- Carbohydrate deficient glycoprotein syndrome type IIb
- Congenital disorder of glycosylation type 2b
- Congenital disorder of glycosylation type IIb
- Glucosidase 1 deficiency
Synonym(s):
- B-CLL
- B-cell chronic lymphoid leukemia
- Lymphoplasmacytic leukemia
- Lymphoplasmacytoid immunocytoma
- Small lymphocytic lymphoma
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references
External references:
6 OMIM references -
1 MeSH reference: D015451
GCS1-CDG

Very frequent
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hepatocellular liver disease / hepatic failure
- Seizures / epilepsy / absences / spasms / status epilepticus



B-cell chronic lymphocytic leukemia

(no data available)