Autosomal recessive spastic paraplegia type 44
Synonyms: SPG44
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult
- Status
- active
Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the <i>GJC2</i> gene (1q41-q42) encoding the gap junction gamma-2 protein.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 44 | SPG44 |
| fr | Paraplégie spastique autosomique récessive type 44 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 44 | = en |
| es | Paraplejía espástica autosómica recesiva tipo 44 | = en |
| it | Paraplegia spastica autosomica recessiva, tipo 44 | = en |
| nl | Autosomaal recessieve spastische paraplegie type 44 | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 44 | |
| pl | Autosomalna recesywna paraplegia spastyczna typu 44 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 44 | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 44 | = en |
| zh | 常染色体隐性遗传痉挛性截瘫44型 | = en |
| tr | Otozomal resesif spastik parapleji tip 44 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613206 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | attributed | validated |
| MONDO | 0013179 | E | validated | |
| MeSH | C567707 | E | validated | |
| UMLS | C2750784 | E | validated | |
| GARD | 17478 | 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 |
|---|---|---|---|---|---|---|---|---|
| GJC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:17494 | ENSG00000198835 | 608803 | 1q42.13 | gap junction protein gamma 2 | 19056803[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 19056803[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19056803[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 2018-04-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006958 | Abnormal auditory evoked potentials | |
| HP:0012896 | Abnormal motor evoked potentials | |
| HP:0007377 | Abnormality of somatosensory evoked potentials | |
| HP:0000649 | Abnormality of visual evoked potentials | |
| HP:0001251 | Ataxia | |
| HP:0003429 | CNS hypomyelination | |
| HP:0001260 | Dysarthria | |
| HP:0002061 | Lower limb spasticity | |
| HP:0001761 | Pes cavus | |
| HP:0000486 | Strabismus | |
| Frequent (79-30%) | ||
| HP:0001288 | Gait disturbance | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0002839 | Urinary bladder sphincter dysfunction | |
| Occasional (29-5%) | ||
| HP:0002194 | Delayed gross motor development | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 19056803[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/320401
- This record as JSON: /data/d/320401.json