IFIH1-related hereditary spastic paraplegia
Synonyms: Interferon induced with helicase C domain 1-related hereditary spastic paraplegia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare pure hereditary spastic paraplegia characterized by spastic paraparesis and normal neuroimaging (no leukodystrophy or calcification in the brain). It is a slowly progressing disease in which patients present with varying degrees of toe-walking, frequent falls and a spastic gait, as well as increased tone or obvious spastic paralysis, weakness, and hyperreflexia of the lower limbs. Additional clinical features may include gross hematuria, fibrillation and atrophy of the tongue muscles, and upper limb involvement such as bilateral upper extremity weakness, hypotonia, and atrophy of the interosseous and thenar muscles in the hands. Chilblain lesions and intellectual disability are absent.
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | IFIH1-related hereditary spastic paraplegia | Interferon induced with helicase C domain 1-related hereditary spastic paraplegia |
| fr | Paraplégie spastique héréditaire associée à IFIH1 | Paraparésie spastique héréditaire associée à IFIH1 · Paraplégie spastique héréditaire associée au gène Interferon induced with helicase C domain 1 |
| de | Hereditäre spastische Paraplegie, IFIH1-assoziierte | |
| es | Paraplejía espástica hereditaria asociada a IFH1 | Paraplejía espástica hereditaria asociada al dominio 1 de la helicasa C inducida por interferón |
| it | paraplegia spastica ereditaria correlata a IFIH1 | Paraplegia spastica ereditaria indotta dall'interferone correlata al dominio 1 dell'elicasi C |
| nl | IFIH1-gerelateerde hereditaire spastische paraplegie | Hereditaire spastische paraplegie gerelateerd aan interferon geïnduceerd met helicase C domein 1 |
| pt | Paraplegia espástica hereditária IFH1-relacionada | |
| pl | Dziedziczna paraplegia spastyczna związana z IFH1 | = en |
| cs | Dědičná spastická paraplegie související s IFH1 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615846 | NTBT | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.0Y | NTBT | attributed | 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 (1):
- ORPHA:100980Autosomal dominant pure spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IFIH1 | Disease-causing germline mutation(s) in | Assessed | HGNC:18873 | ENSG00000115267 | 606951 | 2q24.2 | interferon induced with helicase C domain 1 | 31427910[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/689231
- This record as JSON: /data/d/689231.json