Senior-loken syndrome 1

Preferred Label : Senior-loken syndrome 1;

Symbol : SLSN1;

CISMeF acronym : SLSN1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Senior-loken syndrome; Renal-retinal syndrome; Juvenile nephronophthisis with leber amaurosis; Renal dysplasia and retinal aplasia; Loken-senior syndrome;

Description : Senior-Loken syndrome is an autosomal recessive disease with the main features of nephronophthisis (NPHP; see 256100) and Leber congenital amaurosis (see 204000). Mutations in some of the same genes that cause nephronophthisis (see 256100) cause Senior-Loken syndrome. - Genetic Heterogeneity of Senior-Loken Syndrome Other forms of SLSN include SLSN4 (606996), caused by mutation in the;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the nephrocystin gene (NPHP1, 607100.0005);

Prefixed ID : #266900;

Details

Origin ID

266900;

UMLS CUI

C4551559;

Automatic exact mappings (from CISMeF team)
- NPHP1 wt Allele [NCIt concept]
- nephrocystin 1 [ORDO Gene]
- nephrocystin 1 [HGNC gene]
Broader ORDO disease(s)
- Senior-Loken syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Renal dysplasia and retinal aplasia (disorder) [SNOMED CT concept]
- Senior Loken Syndrome [MeSH concept]
- Senior Loken syndrome [Disease (Nov.)]
- Senior-Loken syndrome [DO Concept]
- Senior-Loken syndrome [PASCAL descriptor]
- Senior-Loken syndrome [ICD-11 More detail]
- Senior-Loken syndrome [MedDRA Preferred Term]
- Senior-Loken syndrome [ORDO Disease]
- senior loken syndrome [MeSH Supplementary Concept]
DO Cross reference
- Senior-Loken syndrome [DO Concept]
Genes related to phenotype
- Nephrocystin 1 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Heterogeneous [HPO term]
- Nephronophthisis [HPO term]
- Polydipsia [HPO term]
- Polyuria [HPO term]
- Rod-cone dystrophy [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- juvenile nephronophthisis [HPO term]
- obsolete Tapetoretinal degeneration [HPO term]
ORDO concept(s)
- Senior-Loken syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Renal dysplasia and retinal aplasia (disorder) [SNOMED CT concept]
- Senior Loken Syndrome [MeSH concept]
- Senior Loken syndrome [Disease (Nov.)]
- Senior-Loken syndrome [ORDO Disease]
- Senior-Loken syndrome [DO Concept]
- Senior-Loken syndrome [PASCAL descriptor]
- senior loken syndrome [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Senior-Loken Syndrome [NCIt concept]

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