Autosomal recessive spastic paraplegia type 54
Synonyms: SPG54
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the <i>DDHD2</i> gene (8p11.23) encoding phospholipase DDHD2.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 54 | SPG54 |
| fr | Paraplégie spastique autosomique récessive type 54 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 54 | = en |
| es | Paraplejía espástica autosómica recesiva tipo 54 | = en |
| it | Paraplegia spastica autosomica recessiva, tipo 54 | = en |
| nl | Autosomaal recessieve spastische paraplegie type 54 | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 54 | |
| pl | Autosomalna recesywna paraplegia spastyczna typu 54 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 54 | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 54 | = en |
| zh | 常染色体隐性遗传痉挛性截瘫54型 | = en |
| tr | Otozomal resesif spastik parapleji tip 54 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615033 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | attributed | validated |
| MONDO | 0014018 | E | validated | |
| UMLS | C3539495 | E | validated | |
| GARD | 17475 | 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 |
|---|---|---|---|---|---|---|---|---|
| DDHD2 | Disease-causing germline mutation(s) in | Assessed | HGNC:29106 | ENSG00000085788 | 615003 | 8p11.23 | DDHD domain containing 2 | 23176823[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 families | Worldwide | Family(ies) | Validated | 23486545[PMID]_24482476[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23486545[PMID]_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
16 annotations · validated 2018-05-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001258 | Spastic paraplegia | |
| Frequent (79-30%) | ||
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0008366 | Foot joint contracture | |
| HP:0001288 | Gait disturbance | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0007766 | Optic disc hypoplasia | |
| HP:0030891 | Periventricular white matter hyperintensities | |
| HP:0002064 | Spastic gait | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0000218 | High palate | |
| HP:0006970 | Periventricular leukomalacia | |
| HP:0004322 | Short stature | |
| HP:0030051 | Tip-toe gait | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 24424123[PMID]_23486545[PMID]_24482476[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/320380
- This record as JSON: /data/d/320380.json