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GTR Home > Conditions/Phenotypes > NPHP3-related Meckel-like syndrome

NPHP3-related Meckel-like syndrome

Synonyms
Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia; GOLDSTON SYNDROME; Meckel syndrome type 7; NPHP3-Related Meckel Syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

This autosomal recessive disorder is designated Meckel syndrome type 7 (MKS7) based on the classic phenotypic triad of (1) cystic renal disease; (2) a central nervous system abnormality, and (3) hepatic abnormalities, as defined by Meckel (1822), Salonen (1984), and Logan et al. (2011). According to these criteria, polydactyly is a variable feature. Herriot et al. (1991) and Al-Gazali et al. (1996) concluded that Dandy-Walker malformation can be the phenotypic manifestation of a central nervous system malformation in MKS. For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000). [from OMIM]

Available tests

61 tests are in the database for this condition.

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Clinical tests (61 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CFAP31, MKS7, NPH3, RHPD, RHPD1, SLSN3, NPHP3
    Summary: nephrocystin 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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