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1 OMIM reference -
1 associated gene
9 signs/symptoms
PROTEIN INTERACTIONS: 1
5 associated genes
No signs/symptoms info
NPHP3-related Meckel-like syndrome
Juvenile autosomal recessive medullary cystic kidney disease

NPHP3 ANKS6
GLIS2
NPHP1
NPHP4
WDR19


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NPHP3
(0.84)
NPHP1



Citations in the biomedical literature:


NPHP3-related Meckel-like syndrome
NPHP3
Juvenile autosomal recessive medullary cystic kidney disease
ANKS6 GLIS2 NPHP1 NPHP4 WDR19



NPHP3-related Meckel-like syndrome
Juvenile autosomal recessive medullary cystic kidney disease

Synonym(s):
- Goldston syndrome
- Meckel syndrome type 7
- Meckel-like syndrome type 1
- Renal-hepatic-pancreatic dysplasia - Dandy-Walker cysts

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare renal disease
Classification (Orphanet):
- Rare genetic disease
- Rare renal disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references

NPHP3-related Meckel-like syndrome

Very frequent
- Autosomal recessive inheritance
- Dandy-Walker anomaly
- Multicystic kidney / renal dysplasia

Frequent
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Intestinal / gut / bowel malrotation
- Oligoamnios
- Polyhydramnios
- Structural anomalies of the liver and the biliary tract
- Structural anomalies of the pancreas



Juvenile autosomal recessive medullary cystic kidney disease

(no data available)