Senior-Loken syndrome 9
Findings
No curated finding names Senior-Loken syndrome 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014712), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 8 of 8 reported patients
- Tubulointerstitial nephritisHPOHP:0001970
- 8 of 8 reported patients
- NephronophthisisHPOHP:0000090
- 7 of 8 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 7 of 8 reported patients
- ObesityHPOHP:0001513
- 4 of 8 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 8 reported patients
- Chronic bronchitisHPOHP:0004469
Show the remaining 5
- HypogonadismHPOHP:0000135
- 1 of 8 reported patients
- Macular degenerationHPOHP:0000608
- 1 of 8 reported patients
- OsteopeniaHPOHP:0000938
- 1 of 8 reported patients
- StrabismusHPOHP:0000486
- 1 of 8 reported patients
- Retinal dystrophyHPOHP:0000556
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- IFT54HGNC:17861
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: Senior-Loken syndrome 9
- Also called
- Senior-Loken syndrome 9; SLSN9Senior-Loken syndrome caused by mutation in TRAF3IP1Senior-Loken syndrome type 9SLSN9TRAF3IP1 Senior-Loken syndrome