Variants in TLR4 and TLR7 raise osteoarthritis risk while a miR-196a2 variant appears protective, and testing can flag who might act early on weight and joint care.
Also called retinitis pigmentosa, this inherited group degrades photoreceptors and affects night and peripheral vision; over 80 genes have been implicated.
A firm lump under the skin arising from hair follicle matrix cells is benign but can mimic other lesions; CTNNB1 mutations affecting beta-catenin underlie its formation.
Faulty type VII collagen from COL7A1 mutations leaves shin skin fragile and quick to blister; PDEB diagnosis, family planning and clinical trials are explained.
Episodes of burning pain, warmth and redness in the hands and feet can overlap with Fabry disease; testing for variants such as GLA helps separate the two.
Mutations in the erythropoietin (EPO) receptor drive overproduction of red blood cells; testing confirms the diagnosis, screens relatives and guides treatment.
Soft tissue gradually turns to bone when ACVR1 mutations misdirect bone morphogenetic protein signaling, starting with painful flare-ups in early childhood.
High potassium, metabolic acidosis and hypertension can start in infancy, as in a 2-month-old who went into hypovolemic shock; gene testing confirms PHA2A early.