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

SOURCES: OMIM ORPHANET


Potential gene panels for TMEM199 gene

Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

TMEM199 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TMEM199 gene.

More info about this panel
United States.

If 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