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 21 - 30 of 35 in total
Gene ID Gene Symbol Description Source
5373 PMM2 phosphomannomutase 2
5589 PRKCSH PRKCSH beta subunit of glucosidase II
5730 PTGDS prostaglandin D2 synthase
5742 PTGS1 prostaglandin-endoperoxide synthase 1
5743 PTGS2 prostaglandin-endoperoxide synthase 2
6401 SELE selectin E
9126 SMC3 structural maintenance of chromosomes 3
23193 GANAB glucosidase II alpha subunit
23556 PIGN phosphatidylinositol glycan anchor biosynthesis class N
56623 INPP5E inositol polyphosphate-5-phosphatase E

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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