Inborn disorder of purine or pyrimidine metabolism
MONDO:0019254Also known as: inborn purine-pyrimidine metabolic disorder, disorder of purine or pyrimidine metabolism, purine-pyrimidine metabolic disorder
50 clinical trials for this condition and its sub-types, 1 tagged with Inborn disorder of purine or pyrimidine metabolism itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Inborn disorder of purine or pyrimidine metabolism
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Disorder of glycolysis 1 trial · 27 incl. sub-types
16 sub-types
- Maturity-onset diabetes of the young 8 trials · 13 incl. sub-types Sub-types →
- Pyruvate kinase deficiency of red cells 10 trials
- Permanent neonatal diabetes mellitus 2 trials Sub-types →
- Glycogen storage disease VII 1 trial
- Glycogen storage disease due to aldolase A deficiency 1 trial
- Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 1 trial
- Glycogen storage disease due to muscle beta-enolase deficiency 1 trial
- Glycogen storage disease due to phosphoglycerate mutase deficiency 1 trial
- Charcot-Marie-Tooth disease type 4G 0 trials
- Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency 0 trials
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 trials
- Hemolytic anemia due to glucophosphate isomerase deficiency 0 trials
- Hyperinsulinemic hypoglycemia, familial, 3 0 trials
- Lactic aciduria due to D-lactic acid 0 trials
- Non-spherocytic hemolytic anemia due to hexokinase deficiency 0 trials
- Triosephosphate isomerase deficiency 0 trials
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Inborn disorder of purine metabolism 0 trials · 14 incl. sub-types
16 sub-types
- Adenine phosphoribosyltransferase deficiency 6 trials
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 6 trials
- Adenylosuccinate lyase deficiency 2 trials
- Purine nucleoside phosphorylase deficiency 2 trials
- AICA-ribosiduria 1 trial
- Adenosine monophosphate deaminase deficiency 1 trial
- Developmental and epileptic encephalopathy, 35 1 trial
- Hereditary xanthinuria 0 trials · 1 incl. sub-types Sub-types →
- Hypoxanthine-guanine phosphoribosyltransferase deficiency 0 trials · 1 incl. sub-types Sub-types →
- Phosphoribosylpyrophosphate synthetase superactivity 1 trial Sub-types →
- Charcot-Marie-Tooth disease X-linked recessive 5 0 trials
- PAICS deficiency 0 trials
- X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome 0 trials
- Familial juvenile hyperuricemic nephropathy type 1 0 trials
- Hemolytic anemia due to erythrocyte adenosine deaminase overproduction 0 trials
- Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 0 trials
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Inborn disorder of pyrimidine metabolism 0 trials · 11 incl. sub-types
9 sub-types
- Mitochondrial DNA depletion syndrome, myopathic form 4 trials
- Mitochondrial neurogastrointestinal encephalomyopathy 4 trials Sub-types →
- Dihydropyrimidine dehydrogenase deficiency 3 trials
- Beta-ureidopropionase deficiency 1 trial
- Dihydropyrimidinuria 1 trial
- Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 1 trial
- Orotic aciduria 1 trial Sub-types →
- Developmental and epileptic encephalopathy, 50 0 trials
- Hyper-beta-alaninemia 0 trials
Most studied deeper sub-types
Maturity-onset diabetes of the young type 2
(4)
Lesch-Nyhan syndrome
(1)
Maturity-onset diabetes of the young type 1
(1)
Maturity-onset diabetes of the young type 4
(1)
Xanthinuria type I
(1)
DEND syndrome
(0)
Developmental delay, epilepsy, and neonatal diabetes 1
(0)
Developmental delay, epilepsy, and neonatal diabetes 2
(0)
Diabetes mellitus, permanent neonatal 2
(0)
Diabetes mellitus, permanent neonatal 3
(0)
Diabetes mellitus, permanent neonatal 4
(0)
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
(0)
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
(0)
Intermediate DEND syndrome
(0)
Lesch-Nyhan phenotype with normal HGPRT
(0)
Maturity-onset diabetes of the young type 10
(0)
Maturity-onset diabetes of the young type 11
(0)
Maturity-onset diabetes of the young, type 12
(0)
Maturity-onset diabetes of the young type 13
(0)
Maturity-onset diabetes of the young type 14
(0)