Get Virtual Care
For Businesses
About Us
A member asked:
Do genes with kabuki indicators overlap with congenital disorders of glycosylation or lysosome storage diseases? or are they all in separate areas?
A doctor has provided 1 answer
Kabuki: The genetics of kabuki are unclear with some cases thought to be x-linked and others following an autosomal dominant pattern of inheritence. It is estimated that 2/3 are related to a gene on chromosome 12 (mll2) which may be responsible for variable gene expression (epigenetics). While epigenetic variation opens the door to many disorders, none of these directly related to glycosylation or lsd.
Answered 12/9/2013
5.2k views
Thank
Related Questions
A member asked:
Is there a gene that cause congenital diaphragmatic hernia?
5 doctors weighed in across 2 answers
A member asked:
Can you tell me any information on congenital talipes. In particular, if its genetic and if so what abnormality causes it?
A doctor has provided 1 answer
A member asked:
What genetic syndromes associated with congenital hydronephrosis ?
A doctor has provided 1 answer
A member asked:
Is there a genetic / congenital variation name associated with hypoplastic right vertebral artery terminating in PICA and subclavian arteria lusoria? thank you?
A doctor has provided 1 answer
People also searched for:
How are diagnoses of lysosome storage disorders differentiated from congenital disorders of glycosylation? References?
Are congenital disorders of glycosylation progressive disorders with worsening symptoms over time? Is there shortened life expectancy?
How commonly is congenital heart disease genetic?
If my partner(man) has congenital heart disease with the vessel, is there any way to get pregnant with help of genetic doctor to have a healthy baby?
Is it genes or lifestyle or both that make it likely to get congenital abnormalities?
Didn't find what you're looking for?
90,000 U.S. doctors in 147 specialties are here to answer your questions or offer you advice, prescriptions, and more.
Ask your questionMore of what we treat
Content on HealthTap (including answers) should not be used for medical advice, diagnosis, or treatment, and interactions on HealthTap do not create a doctor-patient relationship. Never disregard or delay professional medical advice in person because of anything on HealthTap. Call your doctor or 911 if you think you may have a medical emergency.
HIPAASecure
SOC 2 Type 2Certified
JCAHOAccredited
Download HealthTap
Video visit and message your doctor
