NPHP3-related Meckel-like syndrome
MONDO:0009966Mondo
Findings
No curated finding names NPHP3-related Meckel-like syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
29 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.
- Multicystic kidney dysplasiaHPOHP:0000003
- 6 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Dandy-Walker malformationHPOHP:0001305
- 1 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Renal dysplasiaHPOHP:0000110
- Very frequent (80% to 99% of cases)
- Abnormal biliary tract morphologyHPOHP:0012440
- Frequent (30% to 79% of cases)
- Abnormal liver parenchyma morphologyHPOHP:0030146
- Frequent (30% to 79% of cases)
- Abnormality of the pancreasHPOHP:0001732
- Frequent (30% to 79% of cases)
- Intestinal malrotationHPOHP:0002566
- Frequent (30% to 79% of cases)
- OligohydramniosHPOHP:0001562
- 3 of 7 reported patients · Antenatal onset
- Frequent (30% to 79% of cases)
- PolyhydramniosHPOHP:0001561
- Frequent (30% to 79% of cases)
- Pulmonary hypoplasiaHPOHP:0002089
- Frequent (30% to 79% of cases)
- Biliary cirrhosisHPOHP:0002613
- 2 of 7 reported patients
- Patent ductus arteriosusHPOHP:0001643
- 2 of 7 reported patients · Antenatal onset
Show the remaining 17
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 2 of 7 reported patients · Infantile onset
- Large fontanellesHPOHP:0000239
- 1 of 5 reported patients
- Pancreatic cystsHPOHP:0001737
- 2 of 12 reported patients
- Aortic valve stenosisHPOHP:0001650
- 1 of 7 reported patients
- Atrial septal defectHPOHP:0001631
- 1 of 7 reported patients
- CholestasisHPOHP:0001396
- 1 of 7 reported patients
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.
- NPHP3HGNC:7907
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: NPHP3-related Meckel-like syndrome
- Also called
- Goldston syndromeMeckel syndrome type 7Meckel-like syndrome type 1MKS7renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome