Sjogren-larsson syndrome

Preferred Label : Sjogren-larsson syndrome;

Symbol : SLS;

CISMeF acronym : SLS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fatty aldehyde dehydrogenase deficiency; Faldh deficiency; Ichthyosis, spastic neurologic disorder, and oligophrenia; Fatty alcohol:nad oxidoreductase deficiency;

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

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the aldehyde dehydrogenase 3 family, member A2 gene (ALDH3A2, 270200.0001);

Laboratory abnormalities : Fatty alcohol:NAD oxidoreductase deficiency in leukocytes and fibroblasts;

Prefixed ID : #270200;

Details

Origin ID

270200;

UMLS CUI

C0037231;

Automatic exact mappings (from CISMeF team)
- Laurin-Sandrow syndrome [MeSH Supplementary Concept]
- Sierra Leone [NCIt concept]
- Sodium Lauryl Sulfate [NCIt concept]
- Streptococcal lymphadenitis of swine (disorder) [Inactive SNOMED CT concept]
- symbol withdrawn SLS [HGNC gene]
Currated CISMeF NLP mapping
- Sjoegren-Larsson syndrome [MedDRA LLT]
- Sjogren Larsson syndrome [Disease (Nov.)]
- Sjogren-Larsson Syndrome [NCIt concept]
- Sjogren-Larsson syndrome [DO Concept]
- Sjogren-Larsson syndrome [MedDRA Preferred Term]
- Sjogren-Larsson syndrome [MeSH Descriptor]
- Sjogren-Larsson syndrome [MeSH concept]
- Sjögren-Larsson syndrome [ICD-11 Sub-sub category]
- Sjögren-Larsson syndrome [PASCAL descriptor]
- Sjögren-Larsson syndrome [ORDO Disease]
- Sjögren-Larsson syndrome (disorder) [SNOMED CT concept]
- sjogren-larsson syndrome [SNOMED Notion]
DO Cross reference
- Sjogren-Larsson syndrome [DO Concept]
False automatic mappings
- Sublingual Route of Administration [NCIt concept]
Genes related to phenotype
- Aldehyde dehydrogenase, family 3, subfamily a, member 2 [OMIM gene]
HPO term(s)
- Abnormal hair morphology [HPO term]
- Abnormal nail morphology [HPO term]
- Alternating exotropia [HPO term]
- Astigmatism [HPO term]
- Autosomal recessive inheritance [HPO term]
- CNS demyelination [HPO term]
- Color vision defect [HPO term]
- Congenital ichthyosis [HPO term]
- Congenital onset [HPO term]
- Enamel hypoplasia [HPO term]
- Flexion contracture [HPO term]
- Ichthyosis [HPO term]
- Ichthyosis [HPO term]
- Intellectual disability [HPO term]
- Macular crystals [HPO term]
- Macular degeneration [HPO term]
- Macular dots [HPO term]
- Opacification of the corneal epithelium [HPO term]
- Photophobia [HPO term]
- Reduced tissue fatty aldehyde dehydrogenase activity [HPO term]
- Reduced visual acuity [HPO term]
- Retinal pigment epithelial atrophy [HPO term]
- Retinal thinning [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Spastic paraparesis [HPO term]
- Spasticity [HPO term]
- Thoracic kyphosis [HPO term]
ORDO concept(s)
- Sjögren-Larsson syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Sjoegren-Larsson syndrome [MedDRA LLT]
- Sjogren Larsson syndrome [Disease (Nov.)]
- Sjogren-Larsson Syndrome [NCIt concept]
- Sjogren-Larsson syndrome [MedDRA Preferred Term]
- Sjogren-Larsson syndrome [MeSH Descriptor]
- Sjogren-Larsson syndrome [MeSH concept]
- Sjogren-Larsson syndrome [DO Concept]
- Sjögren-Larsson syndrome [ORDO Disease]
- Sjögren-Larsson syndrome [ICD-11 Sub-sub category]
- Sjögren-Larsson syndrome [PASCAL descriptor]
- Sjögren-Larsson syndrome (disorder) [SNOMED CT concept]
- sjogren-larsson syndrome [SNOMED Notion]

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