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thyrocerebrorenal syndrome

MeSH: C536908ORPHA: 3327

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

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.

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with thyrocerebrorenal syndrome, sourced from HPO and Orphanet clinical annotations.

Renal insufficiencyNephritisSensorineural hearing impairmentSeizureMyoclonusSlurred speechThrombocytopeniaNonprogressive cerebellar ataxiaAbnormality of the musculature of the limbsEuthyroid goiter

Classification & Codes

MeSH Code

C536908

Orphanet Code

ORPHA:3327
thyrocerebrorenal syndrome
MeSHC536908
OrphanetORPHA:3327
Treatments0 drug(s)
Symptoms on record10 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO