ORPHA:3156
Senior-Loken syndrome
Synonyms: Nephronophthisis with retinal dystrophy · Renal dysplasia-retinal aplasia syndrome · SLSN
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare autosomal recessive oculo-renal ciliopathy characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Senior-Loken syndrome | Nephronophthisis with retinal dystrophy · Renal dysplasia-retinal aplasia syndrome · SLSN |
| fr | Syndrome de Senior-Loken | Néphronophtise avec dystrophie rétinienne · SLSN · Syndrome de dysplasie rénale-aplasie rétinienne |
| de | Senior-Loken-Syndrom | Nephronophthise mit Retinadystrophie · SLSN · Renaldysplasie-Retinaaplasie-Syndrom |
| es | Síndrome de Senior-Loken | Displasia renal-aplasia retiniana · Nefronoptisis con distrofia de la retina · SLSN |
| it | Sindrome di Senior-Loken | Displasia renale - aplasia retinica · Nefronoftisi con distrofia retinica · SLSN |
| nl | Syndroom van Senior-Loken | Nefronoftise met retinale dystrofie · Renale dysplasie - retinale aplasie-syndroom · SLSN |
| pt | Síndrome Senior-Loken | SLSN · Síndrome de displasia renal-aplasia da retina |
| pl | Zespół Seniora i Lokena | Dysplazja nerek - aplazja siatkówki · Nefronoftyza z dystrofią siatkówki · SLSN |
| cs | Senior-Loken syndrom | Nefronoftíza s retinální dystrofií · Syndrom zahrnující renální dysplázii a retinální aplázii · SLSN |
| uk | Синдром Сеніора-Локена | Нефронофтіз з дистрофією сітківки · Синдром ниркової дисплазії - аплазії сітківки · SLSN |
| zh | Senior-Loken综合征 | 肾发育不良-视网膜发育不全综合征 |
| tr | Senior-Loken sendromu | SLSN · Retina distrofisi ile seyreden nefronofitisis · Böbrek displazisi-retinal aplazi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 266900 | E | validated | |
| OMIM | 606995 | BTNT | validated | |
| OMIM | 606996 | BTNT | validated | |
| OMIM | 609254 | BTNT | validated | |
| OMIM | 610189 | BTNT | validated | |
| OMIM | 613615 | BTNT | validated | |
| OMIM | 614845 | BTNT | validated | |
| OMIM | 616307 | BTNT | validated | |
| OMIM | 616629 | BTNT | validated | |
| ICD-10 | Q61.5 | NTBT | attributed | validated |
| ICD-11 | 9B70 | NTBT | index | validated |
| MONDO | 0017842 | E | validated | |
| MeSH | C537580 | E | validated | |
| UMLS | C0403553 | E | validated | |
| GARD | 322 | E | validated | |
| MedDRA | 10084074 | 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: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 - ORPHA:156180Retinal ciliopathy due to mutation in nephronophthisis gene
rare genetic diseases
No children.
4
Genes
10 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IFT54 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17861 | ENSG00000204104 | 607380 | 2q37.3 | intraflagellar transport 54 | 26487268[PMID] |
| CEP164 | Disease-causing germline mutation(s) in | Assessed | HGNC:29182 | ENSG00000110274 | 614848 | 11q23.3 | centrosomal protein 164 | 22863007[PMID] |
| CEP290 | Disease-causing germline mutation(s) in | Assessed | HGNC:29021 | ENSG00000198707 | 610142 | 12q21.32 | centrosomal protein 290 | 22819833[PMID] |
| INVS | Disease-causing germline mutation(s) in | Assessed | HGNC:17870 | ENSG00000119509 | 243305 | 9q31.1 | inversin | 16522655[PMID]_22819833[PMID] |
| IQCB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:28949 | ENSG00000173226 | 609237 | 3q13.33 | IQ motif containing B1 | 22819833[PMID] |
| NPHP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7905 | ENSG00000144061 | 607100 | 2q13 | nephrocystin 1 | 22819833[PMID] |
| NPHP3 | Disease-causing germline mutation(s) in | Assessed | HGNC:7907 | ENSG00000113971 | 608002 | 3q22.1 | nephrocystin 3 | 22819833[PMID] |
| NPHP4 | Disease-causing germline mutation(s) in | Assessed | HGNC:19104 | ENSG00000131697 | 607215 | 1p36.31 | nephrocystin 4 | 22819833[PMID] |
| SDCCAG8 | Disease-causing germline mutation(s) in | Assessed | HGNC:10671 | ENSG00000054282 | 613524 | 1q43-q44 | SHH signaling and ciliogenesis regulator SDCCAG8 | 22819833[PMID] |
| WDR19 | Disease-causing germline mutation(s) in | Assessed | HGNC:18340 | ENSG00000157796 | 608151 | 4p14 | WD repeat domain 19 | 23683095[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Worldwide | Class only | Validated | 33109693[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
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0012622 | Chronic kidney disease | |
| HP:0001263 | Global developmental delay | |
| HP:0000822 | Hypertension | |
| HP:0000556 | Retinal dystrophy | |
| HP:0004322 | Short stature | |
| HP:0003774 | Stage 5 chronic kidney disease | |
| HP:0000505 | Visual impairment | |
| Frequent (79-30%) | ||
| HP:0000090 | Nephronophthisis | |
| HP:0008209 | Premature ovarian insufficiency | |
| HP:0000529 | Progressive visual loss | |
| Occasional (29-5%) | ||
| HP:0004348 | Abnormality of bone mineral density | |
| HP:0001251 | Ataxia | |
| HP:0000518 | Cataract | |
| HP:0010579 | Cone-shaped epiphysis | |
| HP:0002612 | Congenital hepatic fibrosis | |
Run the differential on the 8 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3156
- This record as JSON: /data/d/3156.json