Autosomal recessive spastic paraplegia type 64
Synonyms: SPG64
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Autosomal recessive spastic paraplegia type 64 is an extremely rare and complex form of hereditary spastic paraplegia, reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the <i>ENTPD1</i> gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 64 | SPG64 |
| fr | Paraplégie spastique autosomique récessive type 64 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 64 | = en |
| es | Paraplejía espástica autosómica recesiva tipo 64 | = en |
| it | Paraplegia spastica autosomica recessiva, tipo 64 | = en |
| nl | Autosomaal recessieve spastische paraplegie type 64 | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 64 | |
| pl | Autosomalna recesywna paraplegia spastyczna typu 64 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 64 | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 64 | = en |
| zh | 常染色体隐性遗传痉挛性截瘫64型 | = en |
| tr | Otozomal resesif spastik parapleji tip 64 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615683 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | attributed | validated |
| MONDO | 0014303 | E | validated | |
| UMLS | C3810289 | E | validated | |
| GARD | 17659 | 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 (2):
- ORPHA:100981Autosomal recessive complex spastic paraplegia
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ENTPD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3363 | ENSG00000138185 | 601752 | 10q24.1 | ectonucleoside triphosphate diphosphohydrolase 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
9 annotations · validated 2018-02-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0000823 | Delayed puberty | |
| HP:0001260 | Dysarthria | |
| HP:0001288 | Gait disturbance | |
| HP:0006889 | Intellectual disability, borderline | |
| HP:0000252 | Microcephaly | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0001284 | Areflexia | |
Annotation source: 24482476[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401810
- This record as JSON: /data/d/401810.json