Spastic paraparesis-cataracts-speech delay syndrome
Synonyms: Fatty acyl-CoA reductase 1 superactivity
- Type
- Clinical syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare disorder of fatty acid biosynthesis characterized by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spastic paraparesis-cataracts-speech delay syndrome | Fatty acyl-CoA reductase 1 superactivity |
| fr | Syndrome de paraparésie spastique-cataracte-retard de langage | Hyperactivité de l'acyl-CoA réductase 1 |
| de | Spastische Paraparese-Katarakte-Sprachverzögerung-Syndrom | Fettsäure Acyl-CoA-Reduktase 1-Superaktivität |
| es | Síndrome de paraplejía espástica-cataratas-retraso del habla | Hiperactividad de la Acil-CoA reductasa 1 de ácidos grasos |
| it | Sindrome da paraparesi spastica, cataratta e ritardo del linguaggio | Iperattività della acil-CoA reduttasi 1 grassa |
| nl | Spastische paraparese - cataract - spraakachterstand-syndroom | Superactiviteit van vetzuur-acyl-CoA-reductase 1 |
| pt | Síndrome de paraparésia espástica-cataratas-perturbação da linguagem | Superatividade da acil-CoA redutase 1 de ácidos gordos |
| pl | Zespół parapareza spastyczna-zaćma-opóźnienie mowy | = en |
| cs | Syndrom zahrnující spastickou paraparézu, kataraktu a opoždění řeči | = en |
| uk | Синдром спастичного паралічу-катаракти-затримки мовлення | Суперактивність жирної ацил-КоА-редуктази 1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619338 | E | validated | |
| ICD-10 | E71.3 | NTBT | attributed | validated |
| ICD-11 | 5C52.Y | NTBT | attributed | validated |
| MONDO | 0036212 | E | validated | |
| UMLS | C5543440 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:100979Autosomal dominant complex spastic paraplegia
rare genetic diseases; rare neurological 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:98644Metabolic disease with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FAR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:26222 | ENSG00000197601 | 616107 | 11p15.3 | fatty acyl-CoA reductase 1 | 33239752[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/615938
- This record as JSON: /data/d/615938.json