ORPHA:816
Sjögren-Larsson syndrome
Synonyms: Fatty acid alcohol oxidoreductase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sjögren-Larsson syndrome | Fatty acid alcohol oxidoreductase deficiency |
| fr | Syndrome de Sjögren-Larsson | Déficit d'oxydoréduction des alcools d'acides gras |
| de | Sjögren-Larsson-Syndrom | Fettaldehyd-Oxidoreduktase-Mangel · Fettalkohol: NAD+-Oxidoreduktase-Mangel |
| es | Síndrome de Sjögren-Larsson | |
| it | Sindrome di Sjögren-Larsson | Deficit di aldeide deidrogenasi |
| nl | Syndroom van Sjögren-Larsson | Vetalcoholoxidoreductasedeficiëntie |
| pt | Síndrome Sjögren-Larsson | Deficiência de oxidoredutase dos álcoois de ácidos gordos |
| pl | Zespół Sjögrena i Larssona | Niedobór oksydoreduktazy alkoholowej kwasów tłuszczowych |
| cs | Sjogrenův-Larssonův syndrom | Deficit oxidoreduktázy alkoholů mastných kyselin · Sjogren-Larssonův syndrom |
| uk | Синдром Шегрена-Ларссона | Дефіцит алкогольоксидоредуктази жирних кислот |
| zh | Sj÷gren-Larsson 综合征 | 脂肪酸醇氧化还原酶缺乏症 |
| tr | Sjögren-Larsson sendromu | Yağ asidi alkol oksidoredüktaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 270200 | E | validated | |
| ICD-10 | Q87.1 | NTBT | index | validated |
| ICD-11 | 5C52.03 | E | specific | validated |
| MONDO | 0010031 | E | validated | |
| MeSH | D016111 | E | validated | |
| UMLS | C0037231 | E | validated | |
| GARD | 7654 | E | validated | |
| MedDRA | 10048676 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:281238Autosomal ichthyosis syndrome with prominent neurologic signs
rare genetic diseases; rare skin diseases - ORPHA:352306Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:716427Rare disorder with progressive predominantly macular disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALDH3A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:403 | ENSG00000072210 | 609523 | 17p11.2 | aldehyde dehydrogenase 3 family member A2 |
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.6 / 100 000 | Sweden | Value and class | Validated | 7273467[PMID] |
| Point prevalence | 1-5 / 10 000 | 16 / 100 000 | Taiwan, Province of China | Value and class | Validated | 22899470[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
88 annotations · validated 2026-06-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000958 | Dry skin | |
| HP:0010783 | Erythema | |
| HP:0007503 | Generalized ichthyosis | |
| HP:0000962 | Hyperkeratosis | |
| HP:0001249 | Intellectual disability | |
| HP:0001264 | Spastic diplegia | |
| HP:0001257 | Spasticity | |
| Frequent (79-30%) | ||
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0007305 | CNS demyelination | |
| HP:0007266 | Cerebral dysmyelination | |
| HP:0002188 | Delayed CNS myelination | |
| HP:0000613 | Photophobia | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0000989 | Pruritus | |
| HP:0030507 | Retinal crystals | |
| HP:0001250 | Seizure | |
| HP:0030506 | Yellow/white lesions of the retina | |
| Occasional (29-5%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0012705 | Abnormal metabolic brain imaging by MRS | |
| HP:0001260 | Dysarthria | |
| HP:0001332 | Dystonia | |
| HP:0006801 | Hyperactive deep tendon reflexes | |
| HP:0001347 | Hyperreflexia | |
| HP:0001276 | Hypertonia | |
| HP:0000966 | Hypohidrosis | |
| HP:0005750 | Lower-limb joint contracture | |
| HP:0000545 | Myopia | |
| HP:0001763 | Pes planus | |
| HP:0002465 | Poor speech | |
| HP:0001622 | Premature birth | |
| HP:0007663 | Reduced visual acuity | |
| HP:0002313 | Spastic paraparesis | |
| HP:0001258 | Spastic paraplegia | |
| HP:0002510 | Spastic tetraplegia | |
| Very rare (<4-1%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0002023 | Anal atresia | |
| HP:0011448 | Ankle clonus | |
| HP:0002099 | Asthma | |
| HP:0008936 | Axial hypotonia | |
| HP:0003487 | Babinski sign | |
| HP:0000498 | Blepharitis | |
| HP:0012444 | Brain atrophy | |
| HP:0000670 | Carious teeth | |
| HP:0002312 | Clumsiness | |
| HP:0000280 | Coarse facial features | |
| HP:0000551 | Color vision defect | |
| HP:0001374 | Congenital hip dislocation | |
| HP:0000509 | Conjunctivitis | |
| HP:0007957 | Corneal opacity | |
| HP:0003083 | Dislocated radial head | |
| HP:0000268 | Dolichocephaly | |
| HP:0002015 | Dysphagia | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0002267 | Exaggerated startle response | |
| HP:0003781 | Excessive salivation | |
| HP:0000297 | Facial hypotonia | |
| HP:0000316 | Hypertelorism | |
| HP:0007894 | Hypopigmentation of the fundus | |
| HP:0000047 | Hypospadias | |
| HP:0001252 | Hypotonia | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0002808 | Kyphosis | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0000527 | Long eyelashes | |
| HP:0000369 | Low-set ears | |
| HP:0000256 | Macrocephaly | |
| HP:0000608 | Macular degeneration | |
| HP:0000252 | Microcephaly | |
| HP:0001336 | Myoclonus | |
| HP:0040187 | Neonatal sepsis | |
| HP:0012203 | Onychomycosis | |
| HP:0000768 | Pectus carinatum | |
| HP:0000767 | Pectus excavatum | |
| HP:0006931 | Pericallosal lipoma | |
| HP:0002090 | Pneumonia | |
| HP:0002344 | Progressive neurologic deterioration | |
| HP:0000520 | Proptosis | |
| HP:0007024 | Pseudobulbar paralysis | |
| HP:0000508 | Ptosis | |
| HP:0002650 | Scoliosis | |
| HP:0009237 | Short 5th finger | |
| HP:0010743 | Short metatarsal | |
| HP:0000486 | Strabismus | |
| HP:0012741 | Unilateral cryptorchidism | |
| HP:0012583 | Unilateral renal hypoplasia | |
| HP:0000020 | Urinary incontinence | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 30372562[PMID]_28543186[PMID]_34315315[PMID]_37180414 [PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/816
- This record as JSON: /data/d/816.json