TMEM199-CDG
Name: |
TMEM199-CDG
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Description: |
A rare congenital disorder of glycosylation characterized by chronic, non-progressive liver disease, manifesting as mild steatosis with elevated serum transaminases and alkaline phosphatase, hypercholesterolemia, and decreased coagulation factors and ceruloplasmin. Transferrin glycosylation pattern is consistent with a type 2 congenital disorder of glycosylation. Liver biopsy may show mild non-progressive fibrosis. Patients usually remain asymptomatic, although delayed psychomotor development and hypotonia have been reported in single cases.
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ORPHAcode: |
466703
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Synonyms: |
CDG syndrome type IIp
CDG-IIp
CDG2P
Carbohydrate deficient glycoprotein syndrome type IIp
Congenital disorder of glycosylation type 2p
Congenital disorder of glycosylation type IIp
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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