Phenotype: Abnormal circulating aspartate family amino acid concentration (HP:0010899)
Associated genes and diseases:
gene_symbol: AASS
disease_id: ORPHA:2203
disease_name: Hyperlysinemia
Hyperlysinemia type I
Lysine alpha-ketoglutarate reductase deficiency
gene_symbol: AASS
disease_id: OMIM:238700
disease_name: HYPERLYSINEMIA, TYPE I
gene_symbol: AASS
disease_id: ORPHA:3124
disease_name: Saccharopinuria
Hyperlysinemia type II
Saccharopine dehydrogenase deficiency
gene_symbol: NADK2
disease_id: ORPHA:431361
disease_name: Progressive encephalopathy with leukodystrophy due to DECR deficiency
2,4-dienoyl-CoA reductase deficiency
DECR deficiency with hyperlysinemia
gene_symbol: NADK2
disease_id: OMIM:616034
disease_name: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY
gene_symbol: MICU1
disease_id: OMIM:615673
disease_name: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS
gene_symbol: ADK
disease_id: OMIM:614300
disease_name: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
gene_symbol: CBS
disease_id: OMIM:236200
disease_name: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
gene_symbol: MAT1A
disease_id: OMIM:250850
disease_name: METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY
gene_symbol: FAH
disease_id: OMIM:276700
disease_name: TYROSINEMIA, TYPE I
gene_symbol: GNMT
disease_id: OMIM:606664
disease_name: GLYCINE N-METHYLTRANSFERASE DEFICIENCY
gene_symbol: SKIC3
disease_id: OMIM:222470
disease_name: TRICHOHEPATOENTERIC SYNDROME 1
gene_symbol: TFAM
disease_id: OMIM:617156
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE)
gene_symbol: GUCY2D
disease_id: OMIM:204000
disease_name: LEBER CONGENITAL AMAUROSIS 1
gene_symbol: SLC25A13
disease_id: OMIM:605814
disease_name: CITRULLINEMIA, TYPE II, NEONATAL-ONSET
gene_symbol: SLC25A13
disease_id: ORPHA:247598
disease_name: Neonatal intrahepatic cholestasis due to citrin deficiency
NICCD
Neonatal intrahepatic cholestasis caused by citrin deficiency
gene_symbol: MTRR
disease_id: OMIM:236270
disease_name: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE
gene_symbol: MTRR
disease_id: ORPHA:2169
disease_name: Methylcobalamin deficiency type cblE
Functional methionine synthase deficiency type cblE
gene_symbol: MMACHC
disease_id: ORPHA:79282
disease_name: Methylmalonic acidemia with homocystinuria, type cblC
CblC defect
Cobalamin C defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
Methylmalonic aciduria with homocystinuria, type cblC
gene_symbol: MMACHC
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: LMBRD1
disease_id: ORPHA:79284
disease_name: Methylmalonic acidemia with homocystinuria type cblF
CblF defect
Cobalamin F defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF
Lysosomal membrane cobalamin transporter deficiency
Methylmalonic aciduria with homocystinuria, type cblF
gene_symbol: MTHFR
disease_id: ORPHA:395
disease_name: Homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR deficiency
Methylene tetrahydrofolate reductase deficiency
gene_symbol: ABCD4
disease_id: OMIM:614857
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
gene_symbol: MTR
disease_id: OMIM:250940
disease_name: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE
gene_symbol: MMADHC
disease_id: OMIM:277410
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE
gene_symbol: PRDX1
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: PNPO
disease_id: ORPHA:79096
disease_name: Pyridoxal phosphate-responsive seizures
PNPO deficiency
PNPO-related neonatal epileptic encephalopathy
Pyridoxal phosphate-dependent seizures
Pyridoxamine 5'-oxidase deficiency
Pyridoxamine 5'-phosphate oxidase deficiency
gene_symbol: AHCY
disease_id: ORPHA:88618
disease_name: S-adenosylhomocysteine hydrolase deficiency
gene_symbol: SLC7A7
disease_id: OMIM:222700
disease_name: LYSINURIC PROTEIN INTOLERANCE
gene_symbol: ASNS
disease_id: OMIM:615574
disease_name: ASPARAGINE SYNTHETASE DEFICIENCY