ORPHA:140969
Saldino-Mainzer syndrome
Synonyms: Conorenal syndrome · Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Saldino-Mainzer syndrome | Conorenal syndrome · Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome |
| fr | Syndrome de Saldino-Mainzer | Syndrome conorénal · Syndrome de dysplasie rénale-dystrophie pigmentaire de la rétine-ataxie cérébelleuse-dysplasie osseuse |
| de | Saldino-Mainzer-Syndrom | |
| es | Síndrome de Saldino-Mainzer | Displasia renal-distrofia pigmentaria de la retina-ataxia cerebelosa-displasia del esqueleto · Displasia renal-distrofia pigmentaria retiniana-ataxia cerebelosa-displasia esquelética · Síndrome conorenal |
| it | Sindrome di Saldino-Mainzer | |
| nl | Syndroom van Saldino-Mainzer | Conorenaal syndroom · Renale dysplasie - retinale pigmentdystrofie - cerebellaire ataxie - skeletdysplasie-syndroom |
| pt | Síndrome Saldino-Mainzer | Síndrome de displasia renal-distrofia pigmentosa da retina-ataxia cerebelosa-displasia esquelética |
| pl | Zespół Saldino i Mainzera | Dysplazja nerek - dystrofia barwnikowa siatkówki - ataksja móżdżkowa - dysplazja szkieletowa · Zespół stożkowo-nerkowy |
| cs | Saldinův-Mainzerův syndrom | Cono-renální syndrom · Syndrom zahrnující renální dysplázii, pigmentovou dystrofii retiny, mozečkovou ataxii a skeletální dysplázii · Saldino-Mainzerův syndrom |
| uk | Синдром Сальдіно-Майнцера | Коноренальний синдром · Синдром ниркової дисплазії - пігментної дистрофії сітківки - мозочкової атаксії - скелетної дисплазії |
| zh | Saldino-Mainzer综合征 | 肾发育不良-视网膜色素营养不良-小脑共济失调-骨骼发育不良综合征 |
| tr | Saldino-Mainzer sendromu | Konorenal sendrom · Böbrek displazisi-retina pigmenter distrofi-serebellar ataksi-iskelet displazisi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 266920 | BTNT | validated | |
| OMIM | 615630 | NTBT | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD24.8Y | NTBT | index | validated |
| MeSH | C535463 | E | validated | |
| UMLS | C1849437 | E | validated | |
| GARD | 8600 | E | validated | |
| MedDRA | 10088468 | 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 (5):
- ORPHA:93426Ciliopathies with major skeletal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:93587Genetic cystic renal disease
rare genetic diseases; rare renal diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:156162Renal ciliopathy
rare genetic diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IFT140 | Disease-causing germline mutation(s) in | Assessed | HGNC:29077 | ENSG00000187535 | 614620 | 16p13.3 | intraflagellar transport 140 | 22503633[PMID] |
| IFT172 | Disease-causing germline mutation(s) in | Assessed | HGNC:30391 | ENSG00000138002 | 607386 | 2p23.3 | intraflagellar transport 172 | 24140113[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 22503633[PMID]_23418020[PMID]_28724397[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22503633[PMID]_23418020[PMID]_28724397[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/140969
- This record as JSON: /data/d/140969.json