ORPHA:631079
Autosomal recessive spastic paraplegia type 84
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 84 | |
| fr | Paraplégie spastique autosomique récessive type 84 | |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 84 | |
| es | Paraplejía espástica autosómica recesiva tipo 84 | |
| it | Paraplegia spastica autosomica recessiva tipo 84 | |
| nl | Autosomaal recessieve spastische paraplegie type 84 | |
| pt | Paraplegia espástica autossómica recessiva tipo 84 | |
| pl | Autosomalna recesywna paraplegia spastyczna typu 84 | |
| cs | Autozomálně recesivní spastická paraplegie, typ 84 | |
| uk | Аутосомно-рецесивна спастична параплегія, тип 84 |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619621 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | attributed | validated |
| MONDO | 0858989 | E | validated | |
| MONDO | 30482 | E | validated | |
| MONDO | 858989 | E | validated | |
| UMLS | C5816769 | 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:100981Autosomal recessive complex spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PI4KA | Disease-causing germline mutation(s) in | Assessed | HGNC:8983 | ENSG00000241973 | 600286 | 22q11.21 | phosphatidylinositol 4-kinase alpha | 34415322[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 34415322[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 34415322[PMID]_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
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/631079
- This record as JSON: /data/d/631079.json