Woodhouse-Sakati Syndrome Overview
Learn About Woodhouse-Sakati Syndrome
Woodhouse-Sakati syndrome is a disorder that primarily affects the body's network of hormone-producing glands (the endocrine system) and the nervous system. The signs and symptoms of this condition vary widely among affected individuals, even within the same family.
Woodhouse-Sakati syndrome is caused by variants (also called mutations) in the DCAF17 gene. This gene provides instructions for making a protein whose function is unknown. The protein is found in several organs and tissues in the body, including the brain, skin, and liver.
Woodhouse-Sakati syndrome is a rare disorder. More than 180 affected individuals, largely from Greater Middle East countries, have been described in the medical literature.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
Khadim Shah practices in Malikabad, Pakistan. Mr. Shah is rated as an Elite expert by MediFind in the treatment of Woodhouse-Sakati Syndrome. His top areas of expertise are Woodhouse-Sakati Syndrome, Hypogonadism Primary Partial Alopecia, Ichthyosis Vulgaris, and Ichthyosis Bullosa of Siemens.
Ali Abusrair practices in Al Qatif, Saudi Arabia. Abusrair is rated as an Elite expert by MediFind in the treatment of Woodhouse-Sakati Syndrome. Their top areas of expertise are Woodhouse-Sakati Syndrome, Hypogonadism Primary Partial Alopecia, Isolated Hypogonadotropic Hypogonadism, and Hypogonadotropic Hypogonadism.
Fowzan Alkuraya is a Pediatrics specialist and a Medical Genetics provider in Boston, Massachusetts. Dr. Alkuraya is rated as an Elite provider by MediFind in the treatment of Woodhouse-Sakati Syndrome. His top areas of expertise are Achalasia Microcephaly Syndrome, Microcephaly, Early Infantile Epileptic Encephalopathy, Cortical Dysplasia, and Vitrectomy.
Summary: TIRCON-reg aims to * continue the provision of a global registry and natural history study for NBIA disorders * harmonize and cover existing national and single site registries * enable participation of countries and single sites that so far have no access to an NBIA registry * join forces in order to recruit sufficient numbers of patients * define the natural history of NBIA disorders * define th...
Published Date: August 14, 2023
Published By: National Institutes of Health