Microphthalmia with haematopoietic defects, DNAJC21-related
Also known as: DNAJC21-related microphthalmia · Microphthalmia with bone marrow failure · Microphthalmia and haematopoietic defects · DNAJC21-associated microphthalmia · Mikrophthalmie mit hämatopoetischen Defekten · …
Overview
What it is
This severe inherited disorder affects eye development and the blood-producing system in the bone marrow, caused by a genetic mutation in the DNAJC1 gene. Because the bone marrow cannot produce enough vital blood cells, affected dogs suffer from a lack of oxygen-carrying red blood cells (anemia) and a severely weakened immune system. This condition is genetically similar to bone marrow failure syndromes seen in humans.
How it presents
Symptoms typically appear in early puppyhood. Owners will notice abnormally small, often blind eyes, extreme lethargy, pale gums, and a high susceptibility to severe infections.
Treatment
The condition is currently incurable, with treatment limited to supportive care like blood transfusions and intensive veterinary management. This supportive therapy is lifelong and typically costs between 1,000 and 6,000 EUR, though it generally only extends the dog's life for a short period.
How it's tested
ECVO Augenuntersuchung (DOK)(ECVO-DOK)
Primary testEye examAugenuntersuchung durch ECVO-zertifizierten Augentierarzt (Dortmunder Kreis). Erkennt PRA, Katarakt, Entropium, CEA, MPP, RD u.a.
Issuing body: ECVO
Result scheme: Eye-ECVO
Embark Breed + Health Panel(Embark)
DNA testUS-Anbieter; 250+ genetische Erkrankungen + Abstammung. Anerkennung in DE/AT variiert je nach VDH-Verein.
Issuing body: Embark
Result scheme: Clear/Carrier/Affected
MyDogDNA Panel(MyDogDNA)
DNA testGenoscoper-basiertes Panel (Mars Petcare). 200+ Erkrankungen + Rassenkomposition.
Issuing body: MyDogDNA
Result scheme: Clear/Carrier/Affected
Feragen Komplettpaket (rassespezifisch)(Feragen-Panel)
DNA testRassespezifisches DNA-Panel (Feragen, Österreich) — gleiches Konzept wie Labogen.
Issuing body: Feragen
Result scheme: Clear/Carrier/Affected
Labogen Komplettpaket (rassespezifisch)(Labogen-Panel)
DNA testRassespezifisches DNA-Panel (Labogen / Laboklin) — bündelt alle relevanten Erbkrankheiten der Rasse in einem Test.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Microphthalmia with haematopoietic defects, DNAJC21-related?
This severe inherited disorder affects eye development and the blood-producing system in the bone marrow, caused by a genetic mutation in the DNAJC1 gene. Because the bone marrow cannot produce enough vital blood cells, affected dogs suffer from a lack of oxygen-carrying red blood cells (anemia) and a severely weakened immune system. This condition is genetically similar to bone marrow failure syndromes seen in humans.
How is Microphthalmia with haematopoietic defects, DNAJC21-related tested?
Tests currently in our database: ECVO Augenuntersuchung (DOK), Embark Breed + Health Panel, MyDogDNA Panel, Feragen Komplettpaket (rassespezifisch), Labogen Komplettpaket (rassespezifisch).
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.