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Allan-Herndon-Dudley syndrome

Synonyms
Allan-Herndon syndrome; MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency; MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency; Mental retardation and muscular atrophy; Monocarboxylate transporter-8 deficiency; T3 RESISTANCE; T3 resisitence; TRIIODOTHYRONINE RESISTANCE; Triiodothyronine resistence; X-linked mental retardation with hypotonia
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Allan-Herndon-Dudley Syndrome
Allan-Herndon-Dudley syndrome (AHDS), an X-linked disorder, is characterized in males by neurologic findings (hypotonia and feeding difficulties in infancy, developmental delay / intellectual disability ranging from mild to profound) and later-onset pyramidal signs, extrapyramidal findings (dystonia, choreoathetosis, paroxysmal movement disorder, hypokinesia, masked facies), and seizures, often with drug resistance. Additional findings can include dysthyroidism (manifest as poor weight gain, reduced muscle mass, and variable cold intolerance, sweating, elevated heart rate, and irritability) and pathognomonic thyroid test results. Most heterozygous females are not clinically affected but may have minor thyroid test abnormalities.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Catherine Sarret
Isabelle Oliver Petit
Davide Tonduti
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Available tests

58 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (58 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AHDS, DXS128, DXS128E, MCT 7, MCT 8, MCT7, MCT8, MRX22, XPCT, SLC16A2
    Summary: solute carrier family 16 member 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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