CDRT1
CDHR1: A Gateway to Understanding Rare Genetic Disorders
Description
CDHR1, short for Cadherin-Related Family Member 1, is a gene that encodes a protein involved in the formation and maintenance of cell-to-cell adhesions. These adhesions play a critical role in various cellular functions, such as tissue development, cell migration, and signal transduction. Mutations in the CDHR1 gene can disrupt these cellular processes, leading to a range of rare genetic disorders.
Associated Diseases
Mutations in CDHR1 have been linked to several rare genetic disorders, including:
- Cornelia de Lange Syndrome (CdLS): A rare congenital disorder characterized by distinctive facial features, intellectual disability, and growth delays.
- Microcephaly, Intellectual Disability, Congenital Cataracts, and Microcephaly with Microphthalmia Syndrome: Rare disorders involving microcephaly (small head size), intellectual disability, and eye abnormalities.
- Pitt-Hopkins Syndrome: A rare neurodevelopmental disorder causing intellectual disability, language impairment, and characteristic facial features.
Did you Know ?
Approximately 1 in 40,000 individuals worldwide are affected by Cornelia de Lange Syndrome, one of the most common disorders associated with CDHR1 mutations.
