nephronophthisis 19
MONDO:0014537Mondo
Findings
No curated finding names nephronophthisis 19 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014537), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
10 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.
- CholestasisHPOHP:0001396
- 2 of 2 reported patients
- HepatomegalyHPOHP:0002240
- 2 of 2 reported patients
- SplenomegalyHPOHP:0001744
- 2 of 2 reported patients
- Bile duct proliferationHPOHP:0001408
- 1 of 2 reported patients
- Hepatic fibrosisHPOHP:0001395
- 1 of 2 reported patients
- Hyperechogenic kidneysHPOHP:0004719
- 1 of 2 reported patients
- Malformation of the hepatic ductal plateHPOHP:0006563
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.
- DCDC2HGNC:18141
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2015
Where it sits
- A kind of
Other names
4 names
Resolves to: nephronophthisis 19
- Also called
- DCDC2 nephronophthisis (disease)nephronophthisis (disease) caused by mutation in DCDC2nephronophthisis type 19NPHP19