Human Phenotype Ontology 
Grandparent Node:
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Abnormal metabolic brain imaging by MRS (HP:0012705)help
Parent Node:
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Abnormal brain lactate level by MRS (HP:0025045)help
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Elevated brain lactate level by MRS (HP:0012707)help
Term ID: 12707
Name: Elevated brain lactate level by MRS
Synonym:
Definition: An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).
Comments:
Reference: HP:0012707
Genes and Diseases:
 
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..expandReduced brain lactate level by MRS (HP:0025046) 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:0012707HP:0012707Elevated brain lactate level by MRS0COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0012707HP:0012707Elevated brain lactate level by MRS0COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0012707HP:0012707Elevated brain lactate level by MRS0COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0012707HP:0012707Elevated brain lactate level by MRS0COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0012707HP:0012707Elevated brain lactate level by MRS0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040283 - Occasional114
HP:0012707HP:0012707Elevated brain lactate level by MRS0DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040282 - Frequent94
HP:0012707HP:0012707Elevated brain lactate level by MRS0ECHS1 CL E G H18923151OMIM:616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency33
HP:0012707HP:0012707Elevated brain lactate level by MRS0FARS2 CL E G H1066721062OMIM:614946Combined oxidative phosphorylation deficiency 1436
HP:0012707HP:0012707Elevated brain lactate level by MRS0HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0012707HP:0012707Elevated brain lactate level by MRS0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040283 - Occasional19
HP:0012707HP:0012707Elevated brain lactate level by MRS0HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII39
HP:0012707HP:0012707Elevated brain lactate level by MRS0KARS1 CL E G H37356215OMIM:619196DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0012707HP:0012707Elevated brain lactate level by MRS0LYRM4 CL E G H5712821365OMIM:615595Combined oxidative phosphorylation deficiency 194
HP:0012707HP:0012707Elevated brain lactate level by MRS0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 810
HP:0012707HP:0012707Elevated brain lactate level by MRS0MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0012707HP:0012707Elevated brain lactate level by MRS0MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 321
HP:0012707HP:0012707Elevated brain lactate level by MRS0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040283 - Occasional
HP:0012707HP:0012707Elevated brain lactate level by MRS0MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7
HP:0012707HP:0012707Elevated brain lactate level by MRS0ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0012707HP:0012707Elevated brain lactate level by MRS0ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0012707HP:0012707Elevated brain lactate level by MRS0ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0012707HP:0012707Elevated brain lactate level by MRS0ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0012707HP:0012707Elevated brain lactate level by MRS0NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional31
HP:0012707HP:0012707Elevated brain lactate level by MRS0NDUFAF6 CL E G H13768228625OMIM:618239Mitochondrial complex I deficiency, nuclear type 1739
HP:0012707HP:0012707Elevated brain lactate level by MRS0NDUFB7 CL E G H47137702OMIM:620135
HP:0012707HP:0012707Elevated brain lactate level by MRS0NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional
HP:0012707HP:0012707Elevated brain lactate level by MRS0NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional65
HP:0012707HP:0012707Elevated brain lactate level by MRS0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0012707HP:0012707Elevated brain lactate level by MRS0SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional40
HP:0012707HP:0012707Elevated brain lactate level by MRS0SDHB CL E G H639010681OMIM:619224MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4237
HP:0012707HP:0012707Elevated brain lactate level by MRS0SLC39A8 CL E G H6411620862OMIM:616721Congenital disorder of glycosylation, type IIN11
HP:0012707HP:0012707Elevated brain lactate level by MRS0SQOR CL E G H5847220390OMIM:619221SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD
HP:0012707HP:0012707Elevated brain lactate level by MRS0SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0012707HP:0012707Elevated brain lactate level by MRS0SURF1 CL E G H683411474ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional73
HP:0012707HP:0012707Elevated brain lactate level by MRS0TRNF CL E G H45587481ORPHA:550MELASHP:0040283 - Occasional
HP:0012707HP:0012707Elevated brain lactate level by MRS0TRNH CL E G H45647487ORPHA:550MELASHP:0040283 - Occasional
HP:0012707HP:0012707Elevated brain lactate level by MRS0TRNL1 CL E G H45677490ORPHA:550MELASHP:0040283 - Occasional
HP:0012707HP:0012707Elevated brain lactate level by MRS0TRNQ CL E G H45727495ORPHA:550MELASHP:0040283 - Occasional
HP:0012707HP:0012707Elevated brain lactate level by MRS0TRNS1 CL E G H45747497ORPHA:550MELASHP:0040283 - Occasional
HP:0012707HP:0012707Elevated brain lactate level by MRS0TRNS2 CL E G H45757498ORPHA:550MELASHP:0040283 - Occasional
HP:0012707HP:0012707Elevated brain lactate level by MRS0TRNW CL E G H45787501ORPHA:550MELASHP:0040283 - Occasional
HP:0012707HP:0012707Elevated brain lactate level by MRS0VARS2 CL E G H5717621642OMIM:615917Combined oxidative phosphorylation deficiency 2056


Genes (41) :COX1 COX16 COX2 COX3 CYP27A1 DNM1L ECHS1 FARS2 HPDL HSD17B10 HTRA2 KARS1 LYRM4 LYRM7 MECR MRPS34 MTRFR ND1 ND4 ND5 ND6 NDUFAF3 NDUFAF6 NDUFB7 NDUFB8 NDUFS2 POLRMT SCO2 SDHB SLC39A8 SQOR SUCLG1 SURF1 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW VARS2

Diseases (25) :ORPHA:550 OMIM:619355 ORPHA:909 ORPHA:330050 OMIM:616277 OMIM:614946 OMIM:619026 ORPHA:391428 OMIM:617248 OMIM:619196 OMIM:615595 OMIM:615838 ORPHA:508093 OMIM:617664 ORPHA:254930 OMIM:613559 ORPHA:70474 OMIM:618239 OMIM:620135 OMIM:619743 OMIM:619224 OMIM:616721 OMIM:619221 OMIM:245400 OMIM:615917
 

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