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Estrogen resistance syndrome

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
3 signs/symptoms

Estrogen resistance syndrome

GCS1-CDG

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ESR1	(0.63)	MOGS

Citations in the biomedical literature:

Estrogen resistance syndrome		GCS1-CDG
	Synonym(s): (no synonyms)		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

	Classification (Orphanet): (no data available)		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease - Rare neurologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: (no data available)		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

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references

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
Estrogen resistance syndrome
(no data available)