ORPHA:101009
Autosomal dominant spastic paraplegia type 29
Synonyms: SPG29
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent
- Status
- active
A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant spastic paraplegia type 29 | SPG29 |
| fr | Paraplégie spastique autosomique dominante type 29 | = en |
| de | Spastische Paraplegie, autosomal-dominante, Typ 29 | = en |
| es | Paraplejía espástica autosómica dominante tipo 29 | = en |
| it | Paraplegia spastica autosomica dominante, tipo 29 | = en |
| nl | Autosomaal dominante spastische paraplegie type 29 | = en |
| pt | Paraplegia espástica autossómica dominante tipo 29 | |
| pl | Autosomalna recesywna paraplegia spastyczna typu 29 | = en |
| cs | Autozomálně dominantní spastická paraplegie, typ 29 | = en |
| uk | Аутосомно-домінантна спастична параплегія, тип 29 | = en |
| zh | 常染色体显性遗传痉挛性截瘫29型 | = en |
| tr | Otozomal dominant spastik parapleji tip 29 | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609727 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.00 | NTBT | index | validated |
| MONDO | 0012334 | E | validated | |
| MeSH | C536863 | E | validated | |
| UMLS | C1857855 | E | validated | |
| GARD | 9729 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:100979Autosomal dominant complex spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SPG29 | Disease-causing germline mutation(s) in | Assessed | HGNC:30161 | 1p31.1-p21.1 | spastic paraplegia 29 (autosomal dominant) | 16130112[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 16130112[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16130112[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.
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HPO phenotypes
14 annotations · validated 2018-04-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003487 | Babinski sign | |
| HP:0002395 | Lower limb hyperreflexia | |
| Frequent (79-30%) | ||
| HP:0000365 | Hearing impairment | |
| HP:0100790 | Hernia | |
| HP:0002036 | Hiatus hernia | |
| HP:0002904 | Hyperbilirubinemia | |
| HP:0001761 | Pes cavus | |
| Occasional (29-5%) | ||
| HP:0010936 | Abnormality of the lower urinary tract | |
| HP:0002169 | Clonus | |
| HP:0007350 | Hyperreflexia in upper limbs | |
| HP:0002495 | Impaired vibratory sensation | |
| Very rare (<4-1%) | ||
| HP:0002034 | Abnormality of the rectum | |
| HP:0010831 | Impaired proprioception | |
| HP:0001250 | Seizure | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 16130112[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101009
- This record as JSON: /data/d/101009.json