alpha thalassemia-X-linked intellectual disability syndrome

Summary
Synonym
  • ATR, nondeletion type
  • ATR-X syndrome
  • alpha-thalassemia/mental retardation syndrome nondeletion type
Definition
An alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21.
Super Class
X-linked dominant disease alpha thalassemia
External Links
Disease Ontology
DOID:0110030
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 13 in total
Gene ID Gene Symbol Description Source
1298 COL9A2 collagen type IX alpha 2 chain
2539 G6PD glucose-6-phosphate dehydrogenase
3417 IDH1 isocitrate dehydrogenase (NADP(+)) 1
3418 IDH2 isocitrate dehydrogenase (NADP(+)) 2
5226 PGD phosphogluconate dehydrogenase
5310 PKD1 polycystin 1, transient receptor potential channel interacting
7412 VCAM1 vascular cell adhesion molecule 1
54575 UGT1A10 UDP glucuronosyltransferase family 1 member A10
54576 UGT1A8 UDP glucuronosyltransferase family 1 member A8
54577 UGT1A7 UDP glucuronosyltransferase family 1 member A7

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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