Living with Nephrogenic diabetes insipidus-intracranial calcification syndrome
A rare genetic condition with a kidney water-balance problem, calcium deposits in the brain, short stature, and learning differences.
Understanding Nephrogenic diabetes insipidus-intracranial calcification syndrome
People have nephrogenic diabetes insipidus (a kidney problem with water balance), calcium deposits in the brain, intellectual disability, short stature, and distinct facial features. GARD lists onset in infancy. There have been no further descriptions in the medical literature since 1990.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Kidney water-balance problem (nephrogenic diabetes insipidus)
- Calcium deposits in the brain
- Intellectual disability
- Short stature
- Delayed puberty
- Hearing loss (conductive)
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 and kidney 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); Kidney specialists (nephrologists)
- 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 National Kidney Foundation 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 changes in genes cause this condition. It doesn't list a specific gene or how it is inherited.
Also known as: diabetes insipidus, nephrogenic, with impaired intellectual development and intracerebral calcification; nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome; schofer-beetz-bohl syndrome
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Nephrogenic diabetes insipidus-intracranial calcification syndrome.
Explore research for Nephrogenic diabetes insipidus-intracranial calcification syndrome
Explore actively recruiting Nephrogenic diabetes insipidus-intracranial calcification syndrome studies with HealthSpark.
Find actively recruiting studies for Nephrogenic diabetes insipidus-intracranial calcification syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Nephrogenic diabetes insipidus-intracranial calcification syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Nephrogenic diabetes insipidus-intracranial calcification syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Nephrogenic diabetes insipidus-intracranial calcification syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.