Autosomal recessive spastic paraplegia type 61
Synonyms: SPG61
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Autosomal recessive spastic paraplegia type 61 (SPG61) is a rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the <i>ARL6IP1</i> gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 61 | SPG61 |
| fr | Paraplégie spastique autosomique récessive type 61 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 61 | = en |
| es | Paraplejía espástica autosómica recesiva tipo 61 | = en |
| it | Paraplegia spastica autosomica recessiva, tipo 61 | = en |
| nl | Autosomaal recessieve spastische paraplegie type 61 | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 61 | |
| pl | Autosomalna recesywna paraplegia spastyczna typu 61 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 61 | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 61 | = en |
| zh | 常染色体隐性遗传痉挛性截瘫61型 | = en |
| tr | Otozomal resesif spastik parapleji tip 61 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615685 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | attributed | validated |
| MONDO | 0014304 | E | validated | |
| UMLS | C3810294 | E | validated | |
| GARD | 17656 | 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 (1):
- ORPHA:100981Autosomal recessive complex spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ARL6IP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:697 | ENSG00000170540 | 607669 | 16p12.3 | ARL6 interacting reticulophagy regulator 1 | 24482476[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 24482476[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24482476[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
8 annotations · validated 2018-02-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0005109 | Abnormality of the Achilles tendon | |
| HP:0002815 | Abnormality of the knee | |
| HP:0001288 | Gait disturbance | |
| HP:0007083 | Hyperactive patellar reflex | |
| HP:0007178 | Motor polyneuropathy | |
| HP:0001271 | Polyneuropathy | |
| HP:0012407 | Scissor gait | |
| HP:0001257 | Spasticity | |
Annotation source: 24482476[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401780
- This record as JSON: /data/d/401780.json