Spastic paraplegia-nephritis-deafness syndrome
historical
Synonyms: Fitzsimmons-Walson-Mellor syndrome · Spastic paraplegia-nephritis-hearing loss syndrome
- Type
- Clinical syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- No data available
- Status
- historical
Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spastic paraplegia-nephritis-deafness syndrome | Fitzsimmons-Walson-Mellor syndrome · Spastic paraplegia-nephritis-hearing loss syndrome |
| fr | Syndrome de paraplégie spastique-néphropathie-surdité | Syndrome de Fitzsimmons-Watson-Mellor |
| de | Spastische Paraplegie-Nephritis-Schwerhörigkeit-Syndrom | Fitzsimmons-Walson-Mellor-Syndrom |
| es | Síndrome de paraplejía espástica-nefropatía-sordera | Síndrome de Fitzsimmons-Walson-Mellor |
| it | Paraplegia spastica - nefropatia - sordità | Sindrome di Fitzsimmons-Walson-Mellor |
| nl | Spastische paraplegie - nefritis - doofheid-syndroom | Spastische paraplegie - nefritis - gehoorverlies-syndroom · Syndroom van Fitzsimmons-Walson-Mellor |
| pt | Síndrome de paraplegia espástica-nefrite-surdez | Síndrome Fitzsimmons-Walson-Mellor |
| pl | Paraplegia spastyczna - zapalenie nerek - głuchota | Zespół Fitzsimmonsa, Walsona i Mellora |
| cs | Syndrom zahrnující spastickou paraplegii, nefritidu a hluchotu | Fitzsimmonsův-Walsonův-Mellorův syndrom · Fitzsimmons-Walson-Mellorův syndrom |
| uk | Синдром спастичної параплегії-нефриту-глухоти | Синдром Фіцсіммонса-Уолсона-Меллора · Синдром спастичної параплегії-нефриту-глухоти |
| zh | 痉挛性截瘫-肾炎-耳聋综合征 | 痉挛性截瘫-肾炎-听力丧失综合征 |
| tr | Spastik parapleji-nefrit-sağırlık sendromu | Fitzsimmons-Walson-Mellor sendromu · Spastik parapleji-nefrit-işitme kaybı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 182690 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0008440 | E | validated | |
| MeSH | C537937 | E | validated | |
| UMLS | C2931667 | E | validated | |
| GARD | 2342 | 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 (3):
- ORPHA:100979Autosomal dominant complex spastic paraplegia
rare genetic diseases; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 3351903[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3351903[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
12 annotations · validated 2017-10-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0001288 | Gait disturbance | |
| HP:0001347 | Hyperreflexia | |
| HP:0001249 | Intellectual disability | |
| HP:0000112 | Nephropathy | |
| HP:0010550 | Paraplegia | |
| HP:0000093 | Proteinuria | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001257 | Spasticity | |
| Frequent (79-30%) | ||
| HP:0000822 | Hypertension | |
| Occasional (29-5%) | ||
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0003510 | Severe short stature | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2820
- This record as JSON: /data/d/2820.json