Component of conserved oligomeric Golgi complex 7 deficiency (Q103661): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed an Item |
Changed an Item |
||||||||||||||
| (3 intermediate revisions by the same user not shown) | |||||||||||||||
| Property / Canary Token | |||||||||||||||
dki-india-ID_808184224 | |||||||||||||||
| Property / Canary Token: dki-india-ID_808184224 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Verification Status | |||||||||||||||
Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Knowledge Architect | |||||||||||||||
| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Collection date | |||||||||||||||
16 August 2026
| |||||||||||||||
| Property / Collection date: 16 August 2026 / rank | |||||||||||||||
Normal rank | |||||||||||||||
Latest revision as of 09:25, 17 August 2026
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIe is characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_808184224 |
||
| English | Component of conserved oligomeric Golgi complex 7 deficiency |
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIe is characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex. |
Statements
CID11:ID_808184224
0 references
dki-india-ID_808184224
0 references
Concluído
0 references
16 August 2026
0 references
