HRSP12
HRSP12: A Comprehensive Guide to a Rare Genetic Condition
Description
HRSP12, short for hair-root sheaths 12, is a rare genetic condition characterized by distinctive hair growth patterns and abnormalities in the sweat glands and kidneys. It is caused by mutations in the HRSP12 gene, which encodes a protein essential for normal hair follicle and sweat gland development.
Individuals with HRSP12 typically exhibit sparse and fragile hair, often with a curly or coiled texture. The hair may appear "spun glass-like" or "wire-like" due to its thin and brittle nature. They may also have skin problems related to abnormal sweat production, leading to excessive sweating (hyperhidrosis) or lack of sweating (anhidrosis). Additionally, some individuals may experience kidney issues, such as polycystic kidney disease or renal failure.
Associated Diseases
HRSP12 has been associated with several other related conditions, including:
- Trichorrhexis invaginata (TRI): A condition characterized by weak and brittle hair that breaks easily.
- Nephrolithiasis: Formation of kidney stones.
- Nephrogenic diabetes insipidus: A rare kidney disorder that causes excessive thirst and urination.
- Polycystic kidney disease: A progressive condition in which cysts form in the kidneys.
Did you Know ?
HRSP12 is a rare condition, affecting approximately 1 in 1,000,000 people worldwide.
