ORPHA:730300
Squalene synthase deficiency
Synonyms: SQS deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Squalene synthase deficiency | SQS deficiency |
| fr | Déficit en squalène synthase | Déficit en SQS |
| de | Squalen-Synthase-Mangel | SQS-Defizienz |
| es | Deficiencia de escualeno sintasa | Deficiencia de SQS |
| it | Deficit di squalene sintasi | Deficit di SQS |
| nl | Deficiëntie van squaleensynthase | SQS-deficiëntie |
| pt | Squalene synthase deficiency | |
| pl | Squalene synthase deficiency | = en |
| cs | Squalene synthase deficiency | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618156 | 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 (1):
- ORPHA:79195Sterol biosynthesis disorder
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FDFT1 | Disease-causing germline mutation(s) in | Assessed | farnesyl-diphosphate farnesyltransferase 1 | 29909962[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/730300
- This record as JSON: /data/d/730300.json