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GCS1-CDG
1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
Li-Fraumeni syndrome
3 OMIM references -
2 associated genes
16 signs/symptoms
GCS1-CDG
Li-Fraumeni syndrome

MOGS
(UniProt - OMIM)
 CHEK2
(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
Li-Fraumeni syndrome
CHEK2 TP53



GCS1-CDG
Li-Fraumeni syndrome

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):
(no synonyms)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic 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: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: D016864
GCS1-CDG
Li-Fraumeni syndrome

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



Very frequent
- Acute leukemia
- Autosomal dominant inheritance
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Breast neoplasm / tumor / carcinoma / cancer
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Colon neoplasm / tumor / carcinoma / cancer
- Cortical adrenal neoplasm / tumor / carcinoma / cancer
- Lymphoma
- Neoplasms / tumors
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Sarcoma
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma

Occasional
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Melanoma
- Oropharyngeal neoplasm / tumor / carcinoma / cancer