Autosomal recessive spastic paraplegia type 63
Synonyms: SPG63
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Autosomal recessive spastic paraplegia type 63 (SPG63) is an extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the <i>AMPD2</i> gene (1p13.3) encoding AMP deaminase 2.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 63 | SPG63 |
| fr | Paraplégie spastique autosomique récessive type 63 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 63 | = en |
| es | Paraplejía espástica autosómica recesiva tipo 63 | = en |
| it | Paraplegia spastica autosomica recessiva, tipo 63 | = en |
| nl | Autosomaal recessieve spastische paraplegie type 63 | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 63 | |
| pl | Autosomalna recesywna paraplegia spastyczna typu 63 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 63 | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 63 | = en |
| zh | 常染色体隐性遗传痉挛性截瘫63型 | = en |
| tr | Otozomal resesif spastik parapleji tip 63 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615686 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | attributed | validated |
| MONDO | 0014305 | E | validated | |
| UMLS | C3810295 | E | validated | |
| GARD | 17658 | 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 |
|---|---|---|---|---|---|---|---|---|
| AMPD2 | Disease-causing germline mutation(s) in | Assessed | HGNC:469 | ENSG00000116337 | 102771 | 1p13.3 | adenosine monophosphate deaminase 2 | 24482476[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 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
9 annotations · validated 2018-02-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0004325 | Decreased body weight | |
| HP:0002194 | Delayed gross motor development | |
| HP:0001347 | Hyperreflexia | |
| HP:0001276 | Hypertonia | |
| HP:0012407 | Scissor gait | |
| HP:0004322 | Short stature | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0002518 | Abnormal periventricular white matter morphology | |
Annotation source: 24482476[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401805
- This record as JSON: /data/d/401805.json