Sjogren-Larsson syndrome, 270200, Autosomal recessive; SLS (Sjögren-Larsson syndrome) (ALDH3A2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000580199.1
Last updated: 2020-05-19
Annual Review past due read more
Test version history
- 580199.1, last updated: 2020-05-19

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Sjögren-Larsson syndrome
Offered by Intergen

Indication

This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis

Imported from OMIM

Sjogren-Larsson syndrome (SLS) is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, impaired intellectual development, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase (summary by Lossos et al., 2006).

Imported from Human Phenotype Ontology (HPO)

Astigmatism
Enamel hypoplasia
Ichthyosis
Macular degeneration
Spasticity
Seizure
Spastic paraparesis
Photophobia
Alternating exotropia
Abnormal hair morphology
Color vision defect
Reduced visual acuity
Flexion contracture
CNS demyelination
Short stature
Abnormal nail morphology
Thoracic kyphosis
Retinal pigment epithelial atrophy
Opacification of the corneal epithelium
Retinal thinning
Intellectual disability
Macular crystals
Macular dots
Reduced tissue fatty aldehyde dehydrogenase activity

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Conditions tested

Sjogren-Larsson syndrome, 270200, Autosomal recessive; SLS (diagnosis/ clinical suspition/ etiology investigation/ classification)

Citations

Not provided

Reviews

Clinical resources

Molecular resources

Consumer resources

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Sjogren-Larsson syndrome, 270200, Autosomal recessive; SLS (Sjögren-Larsson syndrome) (ALDH3A2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Indication

Clinical summary

Imported from OMIM

Clinical features