2-aminoadipic 2-oxoadipic aciduria
MONDO:0008774Mondo
Findings
No curated finding names 2-aminoadipic 2-oxoadipic aciduria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- 2-hydroxyadipic aciduriaHPOHP:0034465
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Alpha-aminoadipic aciduriaHPOHP:0410309
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- Mild global developmental delayHPOHP:0011342
- 2 of 2 reported patients
- Elevated circulating 2-aminoadipic acid concentrationHPOHP:6000278
- Frequent (30% to 79% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 2 reported patients
- Occasional (5% to 29% of cases)
- Delayed speech and language developmentHPOHP:0000750
- 1 of 2 reported patients
- Occasional (5% to 29% of cases)
- HypotoniaHPOHP:0001252
- 1 of 2 reported patients
- Occasional (5% to 29% of cases)
- MicrocephalyHPOHP:0000252
- 1 of 2 reported patients
- Occasional (5% to 29% of cases)
- AutismHPOHP:0000717
- Occasional (5% to 29% of cases)
- Intellectual disabilityHPOHP:0001249
- Occasional (5% to 29% of cases)
- SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DHTKD1HGNC:23537
- Definitive · ClinGen · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: 2-aminoadipic 2-oxoadipic aciduria
- Also called
- alpha-aminoadipic aciduriaalpha-aminoadipic and alpha-ketoadipic aciduriaAMOXADKetoadipicaciduria