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GTR Home > Conditions/Phenotypes > Polyendocrine-polyneuropathy syndrome

Polyendocrine-polyneuropathy syndrome

Summary

A rare genetic disease with characteristics of childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities. [from SNOMEDCT_US]

Available tests

13 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE81, DFNA71, EIEE81, PEPNS, RC3, DMXL2
    Summary: Dmx like 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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