chromosome 3q29 microdeletion syndrome

Summary
Synonym
  • 3q subtelomere deletion syndrome
  • 3q29 microdeletion syndrome
  • 3q29 recurrent deletion
  • 3qter deletion
Definition
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region.
Super Class
chromosomal deletion syndrome
External Links
Disease Ontology
DOID:0060419
Mondo Disease Ontology
MeSH
ORDO
OMIM
GARD
WikiPathways (from TogoID)
Related Genes
Displaying all 8 entries
Gene ID Gene Symbol Description Source
622 BDH1 3-hydroxybutyrate dehydrogenase 1
1739 DLG1 discs large MAGUK scaffold protein 1
4057 LTF lactotransferrin
4241 MELTF melanotransferrin
7018 TF transferrin
8630 HSD17B6 hydroxysteroid 17-beta dehydrogenase 6
121214 SDR9C7 short chain dehydrogenase/reductase family 9C member 7
200931 SLC51A solute carrier family 51 member A
Displaying entries 1 - 10 of 11 in total
Gene ID Gene Symbol Description Source
13383 Dlg1 discs large MAGUK scaffold protein 1
13385 Dlg4 discs large MAGUK scaffold protein 4
15486 Hsd17b2 hydroxysteroid (17-beta) dehydrogenase 2
17002 Ltf lactotransferrin
22041 Trf transferrin
23859 Dlg2 discs large MAGUK scaffold protein 2
27400 Hsd17b6 hydroxysteroid (17-beta) dehydrogenase 6
30060 Meltf melanotransferrin
71775 Inhca inhibitor of carbonic anhydrase
71911 Bdh1 3-hydroxybutyrate dehydrogenase, type 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
24825 Tf transferrin
117099 Bdh1 3-hydroxybutyrate dehydrogenase 1
286964 Hsd17b6 hydroxysteroid (17-beta) dehydrogenase 6
Displaying all 2 entries
Gene ID Gene Symbol Description Source
39435 Tsf2 Transferrin 2
40070 CG6836 uncharacterized protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
447807 slc51a solute carrier family 51 member A
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
100135183 slc51al solute carrier family 51 subunit alpha like Xenopus tropicalis (tropical clawed frog)
Displaying all 3 entries
Gene ID Gene Symbol Description Source
173966 osta-2 Organic solute transporter alpha-like protein 2
175140 osta-3 Organic solute transporter alpha-like protein 3
182062 osta-1 Organic solute transporter alpha-like protein 1

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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