You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Osteopetrosis with renal tubular acidosis, look for clinical trials, and connect with others living with it — all in one place.
Open the full Osteopetrosis with renal tubular acidosis hub →Osteopetrosis with renal tubular acidosis is a rare condition. Also known as Carbonic anhydrase 2 deficiency, Guibaud-Vainsel syndrome, Marble brain disease, Mixed RTA, Mixed renal tubular acidosis, Renal tubular acidosis type 3. Tomeko brings together the specialists, research, clinical trials, treatments and community for Osteopetrosis with renal tubular acidosis so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:2785 · OMIM 259730, 267200 · ICD-10 Q78.2 · GARD 0004154
Start by learning the basics from an authoritative source, find a specialist or center that sees Osteopetrosis with renal tubular acidosis, and connect with a patient organization. Tomeko brings these together on one hub.
Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat Osteopetrosis with renal tubular acidosis, filtered to your area.
Tomeko shows live, recruiting studies for Osteopetrosis with renal tubular acidosis from ClinicalTrials.gov on the hub.