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central nervous system calcification-deafness-tubular acidosis-anemia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

central nervous system calcification-deafness-tubular acidosis-anemia syndrome

MONDO:0017924

Also known as:Yoshimura-Takeshita syndrome

Overview

This syndrome is characterized by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family.

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 common findings: Atopic dermatitis, Seizure, Cerebellar hypoplasia, and Absent speech and others; and sometimes findings: Low platelet count (thrombocytopenia), Vomiting, Diarrhea, and Respiratory failure.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Seizure, Absent speech, Overactive reflexes (hyperreflexia)

Diagnosis

Biomarker and diagnostic research for central nervous system calcification-deafness-tubular acidosis-anemia syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 17 common features.

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 central nervous system calcification-deafness-tubular acidosis-anemia syndrome.

298 publications have been identified in PubMed for central nervous system calcification-deafness-tubular acidosis-anemia syndrome. Kisho has analyzed 131 by research type. Research spans Review / Meta-Analysis (60%), Basic Science / Preclinical (22%), and Case Report / Case Series (5%).

Research Type	Count	% of Total
Research summaries	79

Data assembled from 4 of 12 sources · Last updated Sep 21, 2026, 12:38 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3240

GARD

Genetic and Rare Diseases Info Center

GARD:18789

Questions for Your Care Team

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Kisho

central nervous system calcification-deafness-tubular acidosis-anemia syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

central nervous system calcification-deafness-tubular acidosis-anemia syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications