ORPHA:2666
Adult familial nephronophthisis-spastic quadriparesia syndrome
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adult
- Status
- historical
A rare, genetic, renal disease characterized by the association of familial adult medullary cystic disease with spastic quadriparesis. There have been no further descriptions in the literature since 1990.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adult familial nephronophthisis-spastic quadriparesia syndrome | |
| fr | Syndrome de néphronophtise familiale de l'adulte-quadriparésie spastique | |
| de | Adulte familiäre Nephronophthise-spastische Tetraparese-Syndrom | |
| es | Síndrome de nefronoptisis familiar del adulto-quadriparesia espástica | |
| it | Sindrome da nefronoftisi familiare dell'adulto-tetraparesi spastica | |
| nl | Volwassen familiale nefronoftise - spastische quadriparese-syndroom | |
| pt | Síndrome de nefronoptise familiar do adulto-tetraparésia espástica | |
| pl | Rodzinna nefronoftyza dorosłych - spastyczny niedowład czterokończynowy | |
| cs | Syndrom zahrnující adultní familiární nefronoftídu a spastickou kvadruparézu | |
| uk | Синдром сімейного нефронофтізу-спастичної квадрипарезу у дорослих | |
| zh | 成人家族性肾消耗症-痉挛性麻痹四肢瘫痪综合征 | |
| tr | Yetişkin ailesel nefronoftiz-spastik kuadriparezi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q61.8 | NTBT | attributed | validated |
| ICD-11 | GB83 | NTBT | index | validated |
| MONDO | 0017044 | E | validated | |
| UMLS | C4518090 | 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 (3):
- ORPHA:93587Genetic cystic renal disease
rare genetic diseases; rare renal diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:156162Renal ciliopathy
rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 2354560[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2354560[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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2666
- This record as JSON: /data/d/2666.json