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GTR Home > Conditions/Phenotypes > Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2

Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2

Summary

Infantile-onset multisystem neurologic, endocrine, and pancreatic disease-2 (IMNEPD2) is an autosomal recessive multisystemic disorder characterized by cholestatic hepatitis, poor feeding associated with poor overall growth, and hypoglycemia apparent from infancy. Most, but not all, patients have variable global developmental delay. Additional common features include sensorineural deafness, retinal abnormalities with visual defects, and hypotonia. Some patients have endocrine abnormalities, including hyperinsulinemic hypoglycemia, pancreatic dysfunction, hypothyroidism, and primary amenorrhea. Additional features may include hypertriglyceridemia, anemia, proteinuria, increased lactate, and recurrent infections. Brain imaging often shows dysmyelination, thin corpus callosum, cerebral atrophy, and white matter abnormalities. Although the clinical manifestations and severity of the disorder are highly variable, death in early childhood may occur (summary by Williams et al., 2019 and Zeiad et al., 2021). For a discussion of genetic heterogeneity of IMNEPD, see IMNEPD1 (616263). [from OMIM]

Available tests

3 tests are in the database for this condition.

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Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMTDIC, IMNEPD2, TYRRS, YARS, YRS, YTS, YARS1
    Summary: tyrosyl-tRNA synthetase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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