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GTR Home > Conditions/Phenotypes > Wolcott-Rallison dysplasia

Wolcott-Rallison dysplasia

Synonyms
Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus; Wolcott-Rallison syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by permanent neonatal or early infancy insulin-dependent diabetes. Epiphyseal dysplasia, osteoporosis, and growth retardation develop at a later age. Other frequent multisystem manifestations include hepatic and renal dysfunction, mental retardation, and cardiovascular abnormalities (summary by Delepine et al., 2000). [from OMIM]

Available tests

39 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (39 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: PEK, PERK, WRS, EIF2AK3
    Summary: eukaryotic translation initiation factor 2 alpha kinase 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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