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thyrocerebrorenal syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

thyrocerebrorenal syndrome

MONDO:0010128

Also known as:Cutler Bass Romshe syndromethyrocerebroretinal syndromethyrocerebral-retinal syndrome

Overview

Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait.

GeneticsAutosomal recessive

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: Nephritis, Seizure, Inner ear hearing loss (sensorineural hearing impairment), and Slurred speech and others. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Seizure, Ataxia, Slurred speech

Diagnosis

Biomarker and diagnostic research for thyrocerebrorenal syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 10 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 thyrocerebrorenal syndrome.

200 publications have been identified in PubMed for thyrocerebrorenal syndrome. Kisho has analyzed 85 by research type. Research spans Review / Meta-Analysis (72%), Basic Science / Preclinical (14%), and Diagnostic / Biomarker (4%).

Research Type	Count	% of Total
Research summaries	61	72%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:274240

Orphanet

European rare disease database

Orphanet:3327

GARD

Genetic and Rare Diseases Info Center

GARD:1646

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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thyrocerebrorenal 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

thyrocerebrorenal 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

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