nephronophthisis 11
Findings
No curated finding names nephronophthisis 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.
Definition from the Mondo Disease Ontology (MONDO:0013302), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
15 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.
- Hepatic fibrosisHPOHP:0001395
- 7 of 7 reported patients
- NephronophthisisHPOHP:0000090
- 7 of 7 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 7 of 7 reported patients · Juvenile onset
- AnisocoriaHPOHP:0009916
- 1 of 7 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 7 reported patients
- NystagmusHPOHP:0000639
- 1 of 7 reported patients
- Retinal degenerationHPO
Show the remaining 3
- Renal corticomedullary cystsHPOHP:0000108
- Renal tubular atrophyHPOHP:0000092
- Tubular basement membrane disintegrationHPOHP:0005583
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.
- TMEM67HGNC:28396
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
2 names
Resolves to: nephronophthisis 11
- Also called
- nephronophthisis type 11NPHP11