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GTR Home > Conditions/Phenotypes > Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

Synonyms
CHOLESTASIS, LOW GGT, ACUTE LIVER FAILURE, AND NEURODEGENERATION SYNDROME; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, WITH HEPATOPATHY; Spinocerebellar ataxia, autosomal recessive 21
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Autosomal recessive spinocerebellar ataxia-21 (SCAR21) is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur (summary by Schmidt et al., 2015). The phenotype is highly variable: all patients appear to have episodic and severe liver dysfunction in early childhood that tends to resolve with age. Affected individuals also show mild developmental or language delay and/or later onset of variable neurologic features, such as motor dysfunction (summary by Lenz et al., 2018). [from OMIM]

Available tests

12 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GKLP, HT019, NKTL, NTKL, P105, SCAR21, TAPK, TEIF, TRAP, SCYL1
    Summary: SCY1 like pseudokinase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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