Living with Autosomal recessive osteopetrosis 1
A severe inherited bone condition in which bones become very dense, caused by changes in the TCIRG1 gene.
Understanding Autosomal recessive osteopetrosis 1
Dense bones can still break easily. Bone growth in the skull can press on nerves and affect vision. The bone marrow can be crowded out, which can cause anemia and low platelets. The liver and spleen can become enlarged.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dense, fracture-prone bones
- Thick skull bones
- Enlarged liver and spleen
- Low red blood cells (anemia)
- Low platelets (thrombocytopenia)
- Vision problems
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the TCIRG1 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: albers-schonberg disease, autosomal recessive; autosomal recessive albers-schonberg disease; autosomal recessive malignant osteopetrosis caused by mutation in tcirg1; autosomal recessive osteopetrosis caused by mutation in tcirg1; autosomal recessive osteopetrosis type 1; infantile malignant osteopetrosis 1
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive osteopetrosis 1.
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