ODCs

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1 OMIM reference -
1 associated gene
3 signs/symptoms

PROTEIN INTERACTIONS: 1

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

COG7-CDG

Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COG7	(0.49)	COG6

Citations in the biomedical literature:

COG7-CDG		Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
	Synonym(s): - CDG syndrome type IIe - CDG-IIe - CDG2E - Carbohydrate deficient glycoprotein syndrome type IIe - Congenital disorder of glycosylation type 2e - Congenital disorder of glycosylation type IIe		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare skin disease - Rare surgical cardiac disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare odontologic disease - Rare skin disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): (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		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

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

COG7-CDG
	Very frequent - Cardiomyopathy / hypertrophic / dilated - Hypotonia - Immunodeficiency / increased susceptibility to infections / recurrent infections
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
(no data available)