Living with Chromosome 17q12 deletion syndrome
A small missing piece of chromosome 17 that often affects the kidneys and can lead to a form of diabetes, with varying signs.
Understanding Chromosome 17q12 deletion syndrome
Signs vary widely, even within a family. Common features include kidney and urinary system differences, ranging from very severe to mild or none. Kidney cysts are common. Many people develop a form of diabetes called MODY5, usually before age 25. The combination of kidney cysts and MODY5 is sometimes called RCAD syndrome.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Kidney differences, often fluid-filled cysts
- Diabetes (often MODY5)
- Short stature
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
Specialists who may be involved include genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- 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 Simons Searchlight and other patient organizations
- 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
GARD says it is caused by a missing piece (deletion) of chromosome 17 at q12. It is listed as autosomal dominant.
Also known as: 17q12 microdeletion syndrome; del(17)(q12); monosomy 17q12
Patient organizations
- Simons SearchlightChromosome 17q12 deletion syndrome · United States
- 17q12 FoundationChromosome 17q12 deletion syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with Chromosome 17q12 deletion syndrome.
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