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nephrogenic diabetes insipidus-intracranial calcification syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephrogenic diabetes insipidus-intracranial calcification syndrome

MONDO:0009099

Also known as:Schofer-Beetz-Bohl syndromediabetes insipidus nephrogenic intellectual disability and intracerebral calcificationdiabetes insipidus nephrogenic mental retardation and intracerebral calcification

Overview

This syndrome is characterized by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Severe short stature, Nephrogenic diabetes insipidus, Global developmental delay, and Cerebral calcification.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Global developmental delay, Cerebral calcification

Diagnosis

Biomarker and diagnostic research for nephrogenic diabetes insipidus-intracranial calcification syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for nephrogenic diabetes insipidus-intracranial calcification syndrome.

82 publications have been identified in PubMed for nephrogenic diabetes insipidus-intracranial calcification syndrome. Research spans Review / Meta-Analysis (67%), Basic Science / Preclinical (16%), and Case Report / Case Series (6%).

Research Type	Count	% of Total
Research summaries	55	67%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:221995

Orphanet

European rare disease database

Orphanet:3145

GARD

Genetic and Rare Diseases Info Center

GARD:259

Questions for Your Care Team

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Kisho

nephrogenic diabetes insipidus-intracranial calcification syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

nephrogenic diabetes insipidus-intracranial calcification syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications