TMEM199 gene related symptoms and diseases
All the information presented here about the TMEM199 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TMEM199 gene
Symptoms // Phenotype | % Cases |
---|---|
Global developmental delay | Very Common - Between 80% and 100% cases |
Generalized hypotonia | Very Common - Between 80% and 100% cases |
Elevated hepatic transaminase | Very Common - Between 80% and 100% cases |
Hepatic steatosis | Very Common - Between 80% and 100% cases |
Decreased liver function | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TMEM199 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypercholesterolemia
- Elevated alkaline phosphatase
- Abnormality of the mitochondrion
- Increased LDL cholesterol concentration
- Decreased serum ceruloplasmin
- Abnormal protein N-linked glycosylation
- Abnormal protein O-linked glycosylation
Rare diseases associated to TMEM199 gene
Here you will find a list of rare diseases related to the TMEM199. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
TMEM199-CDG
Alternate names
TMEM199-CDG Is also known as cdgiip, cdg-iip, cdg2p, congenital disorder of glycosylation type iip, carbohydrate deficient glycoprotein syndrome type iip, congenital disorder of glycosylation type 2p, cdg syndrome type iip, cdg iip
Description
Congenital disorder of glycosylation type IIp (CDG2P) is an autosomal recessive metabolic disorder characterized by mild liver dysfunction, which may be found incidentally during adolescence. Laboratory abnormalities include elevated liver enzymes and alkaline phosphatase, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect (summary by Jansen et al., 2016).For an overview of congenital disorders of glycosylation, see CDG1A (OMIM ) and CDG2A (OMIM ).
Most common symptoms of TMEM199-CDG
- Global developmental delay
- Generalized hypotonia
- Elevated hepatic transaminase
- Hepatic steatosis
- Decreased liver function
More info about TMEM199-CDG
Search interest in TMEM199
Potential gene panels for TMEM199 gene
Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 TMEM199 ALG1 ATP6V0A2 COG4
More info about this panelTMEM199 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TMEM199 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SLC6A5 NDUFV1 MMAB ALAD TTN CSMD1 SLC20A2