Meckel syndrome

Summary
Synonym
  • Meckel-Gruber syndrome
Definition
A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.
Super Class
ciliopathy
External Links
Disease Ontology
DOID:0050778
Mondo Disease Ontology
UMLS
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 31 - 35 of 35 in total
Gene ID Gene Symbol Description Source
64132 XYLT2 xylosyltransferase 2
79796 ALG9 ALG9 alpha-1,2-mannosyltransferase
114780 PKD1L2 polycystin 1 like 2 (gene/pseudogene)
145173 B3GLCT beta 3-glucosyltransferase
342372 PKD1L3 polycystin 1 like 3, transient receptor potential channel interacting

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024