Research Evidence
Peer-reviewed studies linked via MeSH term "Sjogren-Larsson Syndrome" from the MEDLINE/PubMed database.
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Sjogren-Larsson syndrome associated hypermelanosis.
[object Object], [object Object], [object Object] et al. · J Cosmet Dermatol · 2020
PMID: 31697031Review
Comprehensive in silico screening and molecular dynamics studies of missense mutations in Sjogren-Larsson syndrome associated with the ALDH3A2 gene.
[object Object], [object Object], [object Object] et al. · Adv Protein Chem Struct Biol · 2020
PMID: 32085885Review
Sjögren-Larsson syndrome: a complex metabolic disease with a distinctive ocular phenotype.
[object Object], [object Object], [object Object] · Ophthalmic Genet · 2019
PMID: 31512987Review
Clinical, biochemical, and genetic aspects of Sjögren-Larsson syndrome.
[object Object], [object Object], [object Object] · Clin Genet · 2018
PMID: 28543186Review
Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjögren-Larsson syndrome.
[object Object], [object Object], [object Object] · J Inherit Metab Dis · 2015
PMID: 25432520Review
Pulmonary arterial hypertension related to connective tissue disease: a review.
[object Object], [object Object] · Rheum Dis Clin North Am · 2014
PMID: 24268012Review
Fatty aldehyde and fatty alcohol metabolism: review and importance for epidermal structure and function.
[object Object] · Biochim Biophys Acta · 2014
Ichthyosis in the newborn.
[object Object] · Semin Perinatol · 2013
[Complete metabolic pathway of sphingosine 1-phosphate and its importance as a metabolic intermediate].
[object Object] · Seikagaku · 2013
PMID: 23980469Review
Search all PubMed articles for Sjogren-Larsson syndrome
Research data from MEDLINE/PubMed
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased visual acuity
Always present (100%)HP:0007663
Flexion contractures
Always present (100%)HP:0001371
Macular crystals
Always present (100%)HP:0030501
Reduced tissue fatty aldehyde dehydrogenase activity
Always present (100%)HP:6000720
Spastic paraparesis
Always present (100%)HP:0002313
Corticospinal signs
Very frequent (80-99%)HP:0007256
Dull intelligence
Very frequent (80-99%)HP:0001249
Epidermal hyperkeratosis
Very frequent (80-99%)HP:0000962
Erythema
Very frequent (80-99%)HP:0010783
Hunched back
Very frequent (80-99%)HP:0002808
Ichthyosiform abnormality of the skin
Very frequent (80-99%)HP:0008064
Involuntary muscle stiffness, contraction, or spasm
Very frequent (80-99%)HP:0001257
Macular dots
Very frequent (80-99%)HP:0032028
Skeletal dysplasia
Very frequent (80-99%)HP:0002652
Spastic diparesis
Very frequent (80-99%)HP:0001264
Xerosis
Very frequent (80-99%)HP:0000958
Abnormal curving of the cornea or lens of the eye
Frequent (30-79%)HP:0000483
Abnormal vocalization
Frequent (30-79%)HP:0002167
Colour vision defects
Frequent (30-79%)HP:0000551
Corneal erosion
Frequent (30-79%)HP:0200020
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Generalised hyperpigmentation
Frequent (30-79%)HP:0007440
Inflammatory abnormality of the eye
Frequent (30-79%)HP:0100533
Near sighted
Frequent (30-79%)HP:0000545
Noninflammatory retina disease
Frequent (30-79%)HP:0000488
Photophobia
Frequent (30-79%)HP:0000613
Retinal pigment epithelial atrophy
Frequent (30-79%)HP:0007722
Retinal pigmentary anomaly
Frequent (30-79%)HP:0007703
Abnormal tooth enamel
Occasional (5-29%)HP:0000682
Alternating strabismus
Occasional (5-29%)HP:0031717
Quick Facts
- SNOMED CT
- 111303009
- UMLS CUI
- C0037231
- Fully Specified Name
- Sjögren-Larsson syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.