Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Abnormal metabolic brain imaging by MRS (HP:0012705)help
..Starting node
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Abnormal brain N-acetyl aspartate level by MRS (HP:0025052)help
Term ID: 25052
Name: Abnormal brain N-acetyl aspartate level by MRS
Synonym: Abnormal brain N-acetyl aspartate level by magnetic resonance spectroscopy
Definition: A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).
Comments:
Reference: HP:0025052
Genes and Diseases:
 
       Child Nodes:
........expandReduced brain N-acetyl aspartate level by MRS (HP:0012708) help
........expandElevated brain N-acetyl aspartate level by MRS (HP:0025053) help

 Sister Nodes: 
..expandAbnormal brain choline level by MRS (HP:0025047) help
..expandAbnormal brain choline/creatine ratio by MRS (HP:0012709) help
..expandAbnormal brain creatine level by MRS (HP:0025049) help
..expandAbnormal brain lactate level by MRS (HP:0025045) help
..expandHigh myoinositol in brain by MRS (HP:0025460) help
..expandReduced brain gamma-aminobutyric acid level by MRS (HP:0500021) help
..expandReduced brain glutamate level by MRS (HP:0031161) help
..expandReduced brain glutamine level by MRS (HP:0030980) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025052HP:0025052Abnormal brain N-acetyl aspartate level by MRS0ASPA CL E G H443756OMIM:271900Canavan disease48
HP:0025052HP:0025052Abnormal brain N-acetyl aspartate level by MRS0ASPA CL E G H443756ORPHA:314911Severe Canavan disease48
HP:0025052HP:0025052Abnormal brain N-acetyl aspartate level by MRS0ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome5
HP:0025052HP:0025052Abnormal brain N-acetyl aspartate level by MRS0CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 4232
HP:0025052HP:0025052Abnormal brain N-acetyl aspartate level by MRS0CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0025052HP:0025052Abnormal brain N-acetyl aspartate level by MRS0FARS2 CL E G H1066721062OMIM:614946Combined oxidative phosphorylation deficiency 1436
HP:0025052HP:0025052Abnormal brain N-acetyl aspartate level by MRS0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0025052HP:0025052Abnormal brain N-acetyl aspartate level by MRS0FOCAD CL E G H5491423377OMIM:6199913
HP:0025052HP:0025052Abnormal brain N-acetyl aspartate level by MRS0GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0025052HP:0025052Abnormal brain N-acetyl aspartate level by MRS0GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0025052HP:0025052Abnormal brain N-acetyl aspartate level by MRS0NDUFB7 CL E G H47137702OMIM:620135
HP:0025052HP:0025052Abnormal brain N-acetyl aspartate level by MRS0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0025052HP:0025052Abnormal brain N-acetyl aspartate level by MRS0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe disease81
HP:0025052HP:0025052Abnormal brain N-acetyl aspartate level by MRS0SDHAF1 CL E G H64409633867OMIM:619166MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2; MC2DN216
HP:0025052HP:0025052Abnormal brain N-acetyl aspartate level by MRS0SDHD CL E G H639210683OMIM:619167MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3129
HP:0025052HP:0025052Abnormal brain N-acetyl aspartate level by MRS0SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0025052HP:0025052Abnormal brain N-acetyl aspartate level by MRS0SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDG27
HP:0025052HP:0025052Abnormal brain N-acetyl aspartate level by MRS0TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0025052HP:0025053Elevated brain N-acetyl aspartate level by MRS1ASPA CL E G H443756OMIM:271900Canavan disease48
HP:0025052HP:0025053Elevated brain N-acetyl aspartate level by MRS1ASPA CL E G H443756ORPHA:314911Severe Canavan diseaseHP:0040281 - Very frequent48
HP:0025052HP:0012708Reduced brain N-acetyl aspartate level by MRS1ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome5
HP:0025052HP:0012708Reduced brain N-acetyl aspartate level by MRS1CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 42HP:0040283 - Occasional32
HP:0025052HP:0012708Reduced brain N-acetyl aspartate level by MRS1CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0025052HP:0025053Elevated brain N-acetyl aspartate level by MRS1FARS2 CL E G H1066721062OMIM:614946Combined oxidative phosphorylation deficiency 1436
HP:0025052HP:0012708Reduced brain N-acetyl aspartate level by MRS1FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0025052HP:0025053Elevated brain N-acetyl aspartate level by MRS1FOCAD CL E G H5491423377OMIM:6199913
HP:0025052HP:0012708Reduced brain N-acetyl aspartate level by MRS1GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040282 - Frequent160
HP:0025052HP:0012708Reduced brain N-acetyl aspartate level by MRS1GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0025052HP:0012708Reduced brain N-acetyl aspartate level by MRS1NDUFB7 CL E G H47137702OMIM:620135
HP:0025052HP:0012708Reduced brain N-acetyl aspartate level by MRS1NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0025052HP:0012708Reduced brain N-acetyl aspartate level by MRS1PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040282 - Frequent81
HP:0025052HP:0012708Reduced brain N-acetyl aspartate level by MRS1SDHAF1 CL E G H64409633867OMIM:619166MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2; MC2DN216
HP:0025052HP:0012708Reduced brain N-acetyl aspartate level by MRS1SDHD CL E G H639210683OMIM:619167MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3129
HP:0025052HP:0012708Reduced brain N-acetyl aspartate level by MRS1SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0025052HP:0025053Elevated brain N-acetyl aspartate level by MRS1SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDGHP:0040282 - Frequent27
HP:0025052HP:0012708Reduced brain N-acetyl aspartate level by MRS1TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313


Genes (17) :ASPA ATAD3A CACNA1G CNP FARS2 FBXO28 FOCAD GALC GRM7 NDUFB7 NGLY1 PSAP SDHAF1 SDHD SLC25A12 SLC35A2 TBCK

Diseases (17) :OMIM:271900 ORPHA:314911 OMIM:617183 ORPHA:458803 OMIM:619071 OMIM:614946 OMIM:619777 OMIM:619991 ORPHA:206436 OMIM:618922 OMIM:620135 OMIM:615273 OMIM:619166 OMIM:619167 OMIM:612949 ORPHA:356961 OMIM:616900
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.