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Sjögren-Larsson syndrome
1 OMIM reference -
1 associated gene
25 connected diseases
29 signs/symptoms
Disease Type of connection
Giant cell glioblastoma
Gliosarcoma
Pseudohypoaldosteronism type 2E
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Progeria-associated arthropathy
Synonym(s):
- Fatty acid alcohol oxidoreductase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: D016111
Gene symbol UniProt reference OMIM reference
ALDH3A2 P51648609523
Very frequent
- Autosomal recessive inheritance
- Dry / squaly skin / exfoliation
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypertonia / spasticity / rigidity / stiffness
- Ichthyosis / ichthyosiform dermatitis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Kyphosis
- Pyramidal syndrome

Frequent
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Corneal ulceration / perforation
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Elocution disorders / dysarthria / dysphonia
- Macular dystrophy / absence / hypoplasia of the macula
- Myopia
- Photophobia
- Retinitis pigmentosa / retinal pigmentary changes
- Retinopathy
- Seizures / epilepsy / absences / spasms / status epilepticus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Occasional
- Enamel anomaly
- Hypotonia
- Microcephaly
- Restricted joint mobility / joint stiffness / ankylosis
- Scoliosis
- Short stature / dwarfism / nanism
- Urticaria