Autosomal recessive spastic paraplegia type 9B
Synonyms: AR-SPG9B
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 9B | AR-SPG9B |
| fr | Paraplégie spastique autosomique récessive type 9B | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 9B | = en |
| es | Paraplejía espástica autosómica recesiva tipo 9B | = en |
| it | Paraplegia spastica autosomica recessiva tipo 9B | = en |
| nl | Autosomaal recessieve spastische paraplegie type 9B | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 9B | = en |
| pl | Autosomalna recesywna złożona paraplegia spastyczna typu 9B | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 9B | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 9B | = en |
| zh | 常染色体显性痉挛性截瘫9B型 | = en |
| tr | Otozomal resesif spastik parapleji tip 9B | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616586 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.00 | NTBT | attributed | validated |
| MONDO | 0014702 | E | validated | |
| UMLS | C5568980 | 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 |
|---|---|---|---|---|---|---|---|---|
| ALDH18A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9722 | ENSG00000059573 | 138250 | 10q24.1 | aldehyde dehydrogenase 18 family member A1 | 26026163[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 26026163[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26026163[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
29 annotations · validated 2018-05-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003487 | Babinski sign | |
| HP:0007350 | Hyperreflexia in upper limbs | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0001257 | Spasticity | |
| Frequent (79-30%) | ||
| HP:0001260 | Dysarthria | |
| HP:0001510 | Growth delay | |
| HP:0031064 | Impaired continence | |
| HP:0001270 | Motor delay | |
| HP:0001324 | Muscle weakness | |
| HP:0002174 | Postural tremor | |
| HP:0002064 | Spastic gait | |
| HP:0002445 | Tetraplegia | |
| Occasional (29-5%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0002518 | Abnormal periventricular white matter morphology | |
| HP:0003438 | Absent Achilles reflex | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0007371 | Corpus callosum atrophy | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001263 | Global developmental delay | |
| HP:0006938 | Impaired vibration sensation at ankles | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0002371 | Loss of speech | |
| HP:0000252 | Microcephaly | |
| HP:0100515 | Pollakisuria | |
| HP:0002476 | Primitive reflex | |
| HP:0004322 | Short stature | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0030051 | Tip-toe gait | |
| HP:0000016 | Urinary retention | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 26026163[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/447760
- This record as JSON: /data/d/447760.json