Question 1

What is TMEM165-congenital disorder of glycosylation?

Accepted Answer

TMEM165-congenital disorder of glycosylation (TMEM165-CDG) is a rare inherited condition that is part of the family of congenital disorders of glycosylation. This condition is characterized by problems in the process of glycosylation, where sugars are added to proteins. The disorder affects many parts of the body, leading to a mixture of developmental and skeletal challenges.

People with TMEM165-CDG often experience delays in motor skills, unique facial features, and marked skeletal abnormalities. The skeletal involvement may include chest and spine issues such as pectus carinatum, dorsolumbar kyphosis, and scoliosis. Additionally, there are noticeable features in the face including midface hypoplasia, low-set ears, and a high arched palate. Other aspects of the condition may include kidney issues, heart defects, and difficulties with feeding. These combined features make TMEM165-CDG a complex condition that requires careful medical assessment.

Question 2

What are the symptoms of TMEM165-congenital disorder of glycosylation?

Accepted Answer

People with TMEM165-CDG may experience psychomotor delays, meaning that physical and mental development can be slower. They often show postnatal growth deficiency along with distinct skeletal abnormalities such as abnormal curvature of the spine (sinistroconvex scoliosis), chest deformities (pectus carinatum), and other bone irregularities. Additionally, facial features like midface hypoplasia, low-set ears, a high arched palate, and small teeth are seen. There can also be signs of kidney problems and heart defects.

Question 3

What causes TMEM165-congenital disorder of glycosylation?

Accepted Answer

TMEM165-CDG is caused by mutations in the TMEM165 gene, which is located on chromosome 4q12. This gene plays an important role in the process of glycosylation, where carbohydrates (sugars) are attached to proteins. When mutations occur in this gene, the process of adding sugars to proteins is disturbed, leading to the features seen in this condition. Associated genes include TMEM165.

Question 4

How is TMEM165-congenital disorder of glycosylation inherited?

Accepted Answer

TMEM165-congenital disorder of glycosylation follows an autosomal recessive inheritance pattern. This means a child must inherit a copy of the altered gene from both parents to develop the condition. Parents who each carry one copy typically do not show symptoms.

Question 5

How rare is TMEM165-congenital disorder of glycosylation?

Accepted Answer

TMEM165-congenital disorder of glycosylation is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

Question 6

How is TMEM165-congenital disorder of glycosylation diagnosed?

Accepted Answer

Information about diagnosis is currently limited for this condition.

Question 7

Are there treatments for TMEM165-congenital disorder of glycosylation?

Accepted Answer

Information about treatment is currently limited for this condition.

Question 8

What complications can arise from TMEM165-congenital disorder of glycosylation?

Accepted Answer

TMEM165-congenital disorder of glycosylation can lead to several complications, including skeletal abnormalities like scoliosis and chest deformities. Additionally, individuals may experience kidney issues and heart defects, which can impact overall health. These complications require careful monitoring and management by healthcare professionals.

Question 9

How does TMEM165-congenital disorder of glycosylation affect daily life?

Accepted Answer

Daily life for someone with TMEM165-congenital disorder of glycosylation may involve challenges due to developmental delays and feeding difficulties. Families may need to work closely with specialists to support motor skills and address any nutritional needs. Regular medical check-ups are important to manage the various aspects of the condition.

Question 10

What is the life expectancy for someone with TMEM165-congenital disorder of glycosylation?

Accepted Answer

Currently, there is limited information about the life expectancy for individuals with TMEM165-congenital disorder of glycosylation. The condition can lead to various health issues that may affect longevity. Ongoing medical care and management of symptoms can help improve quality of life.

Question 11

What specific facial features are associated with TMEM165-congenital disorder of glycosylation?

Accepted Answer

Individuals with TMEM165-congenital disorder of glycosylation often have distinct facial features. These can include midface hypoplasia, low-set ears, and a high arched palate. Additionally, small teeth may also be present, contributing to the unique appearance associated with this condition.

Research Type	Count	% of Total
Laboratory research	111	44%

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TMEM165-congenital disorder of glycosylation

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Explore clinical features

Recent Publications

TMEM165-congenital disorder of glycosylation

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is TMEM165-congenital disorder of glycosylation?

What are the symptoms of TMEM165-congenital disorder of glycosylation?

What causes TMEM165-congenital disorder of glycosylation?

How is TMEM165-congenital disorder of glycosylation inherited?

How rare is TMEM165-congenital disorder of glycosylation?

How is TMEM165-congenital disorder of glycosylation diagnosed?

Are there treatments for TMEM165-congenital disorder of glycosylation?

What complications can arise from TMEM165-congenital disorder of glycosylation?

How does TMEM165-congenital disorder of glycosylation affect daily life?

What is the life expectancy for someone with TMEM165-congenital disorder of glycosylation?

What specific facial features are associated with TMEM165-congenital disorder of glycosylation?

Explore clinical features

Recent Publications