Meckel syndrome 8

Summary
Synonym
  • MKS8
  • Meckel-Gruber syndrome, type 8
Definition
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TCTN2 gene on chromosome 12q24.31.
Super Class
Meckel syndrome
External Links
Disease Ontology
DOID:0070122
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying all 8 entries
Gene ID Gene Symbol Description Source
378 ARF4 ADP ribosylation factor 4
1636 ACE angiotensin I converting enzyme
5310 PKD1 polycystin 1, transient receptor potential channel interacting
5311 PKD2 polycystin 2, transient receptor potential cation channel
7369 UMOD uromodulin
79053 ALG8 ALG8 alpha-1,3-glucosyltransferase
79796 ALG9 ALG9 alpha-1,2-mannosyltransferase
148738 HJV hemojuvelin BMP co-receptor

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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