Autosomal recessive spastic paraplegia type 55
Synonyms: SPG55
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the <i>C12ORF65</i> gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 55 | SPG55 |
| fr | Paraplégie spastique autosomique récessive type 55 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 55 | = en |
| es | Paraplejía espástica autosómica recesiva tipo 55 | = en |
| it | Paraplegia spastica autosomica recessiva, tipo 55 | = en |
| nl | Autosomaal recessieve spastische paraplegie type 55 | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 55 | |
| pl | Autosomalna recesywna paraplegia spastyczna typu 55 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 55 | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 55 | = en |
| zh | 常染色体隐性遗传痉挛性截瘫55型 | = en |
| tr | Otozomal resesif spastik parapleji tip 55 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615035 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | attributed | validated |
| MONDO | 0014020 | E | validated | |
| UMLS | C3539506 | E | validated | |
| GARD | 17474 | 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:497623C12ORF65-related combined oxidative phosphorylation defect
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders - ORPHA:431320Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MTRFR | Disease-causing germline mutation(s) in | Assessed | HGNC:26784 | ENSG00000130921 | 613541 | 12q24.31 | mitochondrial translation release factor in rescue | 23188110[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24080142[PMID]_24424123[PMID] |
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 24080142[PMID]_24424123[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
27 annotations · validated 2018-05-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003487 | Babinski sign | |
| HP:0003448 | Decreased sensory nerve conduction velocity | |
| HP:0002936 | Distal sensory impairment | |
| HP:0007042 | Focal white matter lesions | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0001347 | Hyperreflexia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0002061 | Lower limb spasticity | |
| HP:0003383 | Onion bulb formation | |
| HP:0000648 | Optic atrophy | |
| HP:0001138 | Optic neuropathy | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0007010 | Poor fine motor coordination | |
| HP:0007663 | Reduced visual acuity | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0002313 | Spastic paraparesis | |
| HP:0001257 | Spasticity | |
| HP:0001762 | Talipes equinovarus | |
| HP:0008963 | Tibialis muscle weakness | |
| HP:0003484 | Upper limb muscle weakness | |
| Occasional (29-5%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0100543 | Cognitive impairment | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0000486 | Strabismus | |
Annotation source: 23188110[PMID]_24080142[PMID]_24424123[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/320375
- This record as JSON: /data/d/320375.json