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2-aminoadipic 2-oxoadipic aciduria

Summary

Synonym

AMOXAD
alpha-aminoadipic aciduria

Definition

An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14.

Super Class

amino acid metabolic disorder autosomal recessive disease

External Links

Disease Ontology

DOID:0111453

Mondo Disease Ontology

MONDO:0008774

ORDO

79154

OMIM

204750

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
55526	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
209692	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
361272	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
43689	CG1544	uncharacterized protein	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
494076	dhtkd1	dehydrogenase E1 and transketolase domain containing 1	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source	Organism
403360	dhtkd1.L	dehydrogenase E1 and transketolase domain containing 1 L homeolog	Alliance of Genome Resources	Xenopus laevis (African clawed frog)

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
179674	ogdh-2	Transketolase-like pyrimidine-binding domain-containing protein;putative 2-oxoadipate dehydrogenase complex component E1 homolog	Alliance of Genome Resources