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Gene: mt-Nd6 MGI:102495

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
mitochondrially encoded NADH dehydrogenase 6
Synonyms:
URF6,  ENSMUSG00000064368

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by mt-Nd6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to mt-Nd6 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Leber Hereditary Optic Neuropathy
Retinal vascular tortuosity, Mitochondrial respiratory chain defects, Optic atrophy, Retinal tela... ORPHA:104
Melas
Lactic acidosis, Increased serum lactate ORPHA:550
Mitochondrial Dna-Associated Leigh Syndrome
Segmental peripheral demyelination/remyelination, Abnormality of Krebs cycle metabolism, Optic at... ORPHA:255210

The table below shows human diseases predicted to be associated to mt-Nd6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Sulfide:Quinone Oxidoreductase Deficiency
Lactic acidosis, Elevated circulating creatine kinase concentration OMIM:619221
Phenformin 4-Hydroxylation
Lactic acidosis OMIM:261590
Tricarboxylic Acid Cycle, Defect Of
Persistent lactic acidosis OMIM:275370
Pyruvate Dehydrogenase Phosphatase Deficiency
Increased serum lactate, Hyperalaninemia, Lactic acidosis, Hyperprolinemia ORPHA:79246
Succinic Acidemia
Lactic acidosis OMIM:600335
Mitochondrial Myopathy, Lethal, Infantile
Lactic acidosis OMIM:551000
Pyruvate Dehydrogenase E1-Beta Deficiency
Lactic acidosis, Hyperammonemia OMIM:614111
Isovaleric Acidemia
Metabolic acidosis ORPHA:33
Lactic Acidosis, Chronic Adult Form
Hyperuricemia, Chronic lactic acidosis OMIM:150170
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Chr... OMIM:603358
3-Hydroxyisobutyric Aciduria
Ketoacidosis, Lactic acidosis, Episodic ketoacidosis OMIM:236795
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate, Severe lactic acidosis OMIM:616111
Hsd10 Disease, Neonatal Type
Metabolic acidosis, Lactic acidosis ORPHA:391457
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Lactic acidosis OMIM:614053
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Lactic acidosis, Decreased circulating ferritin concentration ORPHA:330054
Mitochondrial Myopathy With Lactic Acidosis
Increased serum pyruvate, Lactic acidosis, Elevated serum anion gap, Increased serum lactate OMIM:251950
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Increased serum lactate, Lactic acidosis, Metabolic acidosis ORPHA:91130
Mitochondrial Myopathy, Infantile, Transient
Increased serum pyruvate, Lactic acidosis, Increased serum lactate, Elevated circulating creatine... OMIM:500009
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lactic acidosis, Metabolic acidosis OMIM:615026
Mitochondrial Complex I Deficiency, Nuclear Type 22
Elevated lactate:pyruvate ratio, Lactic acidosis OMIM:618243
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated lactate:pyruvate ratio, Hyperprolinemia, Lactic acidosis, Metabolic acidosis, Hyperalani... OMIM:619003
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Increased serum lactate, Proximal renal tubular acidosis, Lactic acidos... OMIM:266150
Malignant Hyperthermia, Susceptibility To, 4
Acidosis OMIM:600467
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Lactic acidosis, Increased serum lactate, Elevated circulating creatine kinase concentration, Hyp... OMIM:618416
Mitochondrial Complex I Deficiency, Nuclear Type 34
Metabolic acidosis, Lactic acidosis OMIM:618776
Combined Oxidative Phosphorylation Deficiency 28
Increased serum pyruvate, Increased serum lactate, Severe lactic acidosis OMIM:616794
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Proximal renal tubular acidosis, Met... OMIM:604278
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Metabolic acidosis, Hyperalaninemia ORPHA:2597
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Elevated circulating creatine kinase concentration, Ketoacidosis, Hyperammonemia, Lactic acidosis... OMIM:618120
Combined Oxidative Phosphorylation Deficiency 30
Elevated lactate:pyruvate ratio, Hyperalaninemia, Lactic acidosis, Increased serum lactate OMIM:616974
Dihydrolipoamide Dehydrogenase Deficiency
Increased serum pyruvate, Lactic acidosis, Metabolic acidosis, Ketoacidosis OMIM:246900
Gracile Syndrome
Increased circulating ferritin concentration, Lactic acidosis, Renal Fanconi syndrome, Elevated h... ORPHA:53693
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Lactic acidosis, Increased serum lactate OMIM:614741
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Increased serum lactate, Chronic lactic acidosis, Lactic acidosis, Meta... OMIM:312170
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Malignant Hyperthermia, Susceptibility To, 2
Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Acetyl-Coa Acetyltransferase-2 Deficiency
Increased serum pyruvate, Increased serum lactate OMIM:614055
Pyruvate Dehydrogenase Phosphatase Deficiency
Lactic acidosis OMIM:608782
Combined Oxidative Phosphorylation Deficiency 8
Lactic acidosis, Increased serum lactate, Metabolic acidosis OMIM:614096
Oxoglutarate Dehydrogenase Deficiency
Increased serum lactate, Metabolic acidosis, Congenital lactic acidosis OMIM:203740
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Metabolic acidosis, Decreased serum bicarbonate concentration, Hyperchloremia, Hype... OMIM:614492
Glycogen Storage Disease Ixa1
Lactic acidosis, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Combined Oxidative Phosphorylation Deficiency 34
Increased serum lactate, Lactic acidosis, Elevated circulating creatinine concentration, Increase... OMIM:617872
Combined Oxidative Phosphorylation Deficiency 48
Increased serum lactate, Lactic acidosis OMIM:619012
Malignant Hyperthermia, Susceptibility To, 3
Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Increased serum lactate, Metabolic acidosis OMIM:615158
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Combined Oxidative Phosphorylation Deficiency 23
Lactic acidosis, Increased serum lactate OMIM:616198
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Lactic acidosis, Increased serum lactate, Abnormal circulating pyruvate family amino acid concent... ORPHA:255182
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Increased serum lactate OMIM:617668
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Metabolic acidosis OMIM:245349
Mitochondrial Complex I Deficiency, Nuclear Type 11
Lactic acidosis, Increased serum lactate, Metabolic acidosis OMIM:618234
Coenzyme Q10 Deficiency, Primary, 4
Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate OMIM:612016
Mitochondrial Complex I Deficiency, Nuclear Type 25
Lactic acidosis OMIM:618246
Mitochondrial Complex I Deficiency, Nuclear Type 14
Increased serum lactate, Lactic acidosis OMIM:618236
Lipoyltransferase 1 Deficiency
Increased serum lactate, Hyperglutaminemia, Hyperprolinemia, Lactic acidosis, Increased total bil... OMIM:616299
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Increased serum lactate, Hyperammonemia, Metabolic acidosis, Elevated c... OMIM:615160
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lactic acidosis, Increased serum lactate, Metabolic acidosis, Severe lactic acidosis OMIM:618228
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Increased serum lactate, Hyperprolinemia, Lactic acidosis, Metabolic ac... OMIM:619046
Combined Oxidative Phosphorylation Deficiency 31
Lactic acidosis, Hyperalaninemia, Increased serum lactate OMIM:617228
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated lactate:pyruvate ratio, Metabolic ketoacidosis, Increased serum lactate, Ketoacidosis, H... OMIM:615453
Isolated Glycerol Kinase Deficiency
Metabolic acidosis, Elevated circulating creatine kinase concentration ORPHA:408
Combined Oxidative Phosphorylation Deficiency 4
Increased serum lactate, Lactic acidosis, Metabolic acidosis, Hyperammonemia OMIM:610678
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Lactic acidosis ORPHA:1369
Hsd10 Mitochondrial Disease
Lactic acidosis, Elevated circulating tiglylglycine concentration, Metabolic acidosis OMIM:300438
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Lactic acidosis, Increased serum lactate ORPHA:139485
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Lactic acidosis, Hyperalaninemia, Increased serum lactate, Hyperglycinemia OMIM:619059
Combined Oxidative Phosphorylation Deficiency 10
Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Hyperalaninemia OMIM:614702
Mitochondrial Complex I Deficiency, Nuclear Type 8
Increased serum lactate, Lactic acidosis OMIM:618230
Mitochondrial Complex I Deficiency, Nuclear Type 17
Lactic acidosis, Increased serum lactate OMIM:618239
Combined Oxidative Phosphorylation Deficiency 17
Lactic acidosis OMIM:615440
Pseudohypoaldosteronism, Type Iie
Metabolic acidosis, Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia OMIM:614496
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Respiratory alkalosis, Increased serum lactate, Ketoacidosis, Hyperglutaminemia, Low plasma citru... OMIM:615751
Pyruvate Dehydrogenase E3 Deficiency
Elevated circulating branched chain amino acid concentration, Increased serum lactate, Hyperammon... ORPHA:2394
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Lactic acidosis OMIM:617184
Mitochondrial Phosphate Carrier Deficiency
Metabolic acidosis, Lactic acidosis OMIM:610773
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Lactic acidosis, Elevated circulating creatine kinase concentration OMIM:609560
Spastic Paraplegia Type 7
Optic disc pallor, Optic atrophy, Abnormal mitochondrial morphology ORPHA:99013
Combined Oxidative Phosphorylation Deficiency 20
Lactic acidosis, Hyperalaninemia OMIM:615917
Tiglic Acidemia
Acidosis OMIM:275190
Coenzyme Q10 Deficiency, Primary, 5
Lactic acidosis, Hyperalaninemia, Increased serum lactate OMIM:614654
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Hyperalaninemia OMIM:619051
Mitochondrial Complex I Deficiency, Nuclear Type 7
Lactic acidosis OMIM:618229
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Lactic acidosis OMIM:619065
Glutathione Synthetase Deficiency
Chronic metabolic acidosis ORPHA:32
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Metabolic acidosis OMIM:231900
Combined Oxidative Phosphorylation Deficiency 2
Lactic acidosis, Increased serum lactate OMIM:610498
3-Hydroxyisobutyric Aciduria
Lactic acidosis ORPHA:939
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Severe lactic acidosis, Mildly elevated creatine kinase, Decreased circulating carnitine concentr... ORPHA:254864
Combined Oxidative Phosphorylation Deficiency 41
Lactic acidosis, Elevated circulating creatine kinase concentration OMIM:618838
Multiple Mitochondrial Dysfunctions Syndrome 3
Elevated lactate:pyruvate ratio, Lactic acidosis, Metabolic acidosis, Hyperglycinemia OMIM:615330
Lethal Infantile Mitochondrial Myopathy
Severe lactic acidosis ORPHA:254857
2P21 Microdeletion Syndrome
Lactic acidosis, Hypocalcemia ORPHA:163693
Renal Tubular Acidosis, Proximal
Hyperchloremic acidosis, Renal tubular acidosis, Proximal renal tubular acidosis OMIM:179830
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Lactic acidosis, Severe lactic acidosis OMIM:612075
Mitochondrial Myopathy And Sideroblastic Anemia
Lactic acidosis ORPHA:2598
Combined Oxidative Phosphorylation Deficiency 5
Lactic acidosis, Increased serum lactate, Metabolic acidosis, Hyperammonemia OMIM:611719
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level, Metabolic acidosis OMIM:620126
Adenosine Monophosphate Deaminase Deficiency
Increased serum lactate, Elevated creatine kinase after exercise ORPHA:45
Triokinase And Fmn Cyclase Deficiency Syndrome
Lactic acidosis, Hypoalbuminemia OMIM:618805
Mitochondrial Complex I Deficiency, Nuclear Type 30
Metabolic acidosis OMIM:301021
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Lactic acidosis OMIM:615119
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level, Metabolic acidosis OMIM:620125
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Lactic acidosis, Hyperalaninemia, Increased serum lactate, Hyperammonemia OMIM:614739
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Increased serum lactate, Proximal renal tubular acidosis, Lactic acidosis, Metabolic acidosis, Co... OMIM:615824
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lactic acidosis, Increased serum lactate OMIM:613561
Lactase Deficiency, Congenital
Metabolic acidosis OMIM:223000
3-Methylglutaconic Aciduria Type 4
Lactic acidosis ORPHA:67048
Hawkinsinuria
Metabolic acidosis, Abnormal circulating tyrosine concentration ORPHA:2118
Combined Oxidative Phosphorylation Deficiency 9
Elevated lactate:pyruvate ratio, Increased serum lactate, Ketoacidosis, Metabolic acidosis, Eleva... OMIM:614582
Sengers Syndrome
Lactic acidosis, Exercise-induced lactic acidemia, Increased serum lactate OMIM:212350
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Lactic acidosis, Increased serum lactate OMIM:614458
Mitochondrial Complex I Deficiency, Nuclear Type 5
Lactic acidosis, Increased serum lactate, Metabolic acidosis OMIM:618226
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Increased serum lactate, Metabolic acidosis OMIM:610090
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Metabolic acidosis, Lactic acidosis OMIM:616501
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating creatine kinase concentration, Hyperamylasemia, Increased serum lactate, Met... OMIM:619386
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Lactic acidosis, Increased serum lactate, Metabolic acidosis ORPHA:70472
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal mitochondrial morphology, Abnormal upper motor n... ORPHA:275872
Mitochondrial Complex I Deficiency, Nuclear Type 16
Lactic acidosis OMIM:618238
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Increased serum lactate, Metabolic acidosis, Hyperammonemia OMIM:620137
Combined Oxidative Phosphorylation Deficiency 18
Increased serum lactate, Lactic acidosis OMIM:615578
Glycogen Storage Disease Ixc
Increased serum lactate, Lactic acidosis, Hypertriglyceridemia OMIM:613027
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Hyperglutamatemia, Increased serum lactate, Low plasma citrulline, Hyperammonemia, Hyperprolinemi... OMIM:620358
Mitochondrial Complex I Deficiency, Nuclear Type 33
Lactic acidosis, Increased serum lactate, Metabolic acidosis, Hyperammonemia OMIM:618253
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Lactic acidosis OMIM:618815
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Elevated circulating acylcarnitine concentration, Increased serum lactate, Lactic acidosis, Abnor... OMIM:615838
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Postprandial hyperlactemia, Intermittent lactic acidemia ORPHA:369
Malonyl-Coa Decarboxylase Deficiency
Lactic acidosis, Metabolic acidosis OMIM:248360
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Lactic acidosis, Increased serum lactate, Hypoalbuminemia, Metabolic acidosis OMIM:617021
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Elevated lactate:pyruvate ratio, Lactic acidosis, Hyperglycinemia, Hypertaurinemia OMIM:245400
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentration, Abnormal... ORPHA:79096
Dihydropyrimidinase Deficiency
Elevated circulating uracil concentration, Metabolic acidosis, Elevated circulating thymine conce... OMIM:222748
Mitochondrial Complex I Deficiency, Nuclear Type 19
Lactic acidosis OMIM:618241
Friedreich Ataxia
Optic atrophy, Decreased pyruvate carboxylase activity, Mitochondrial malic enzyme reduced, Abnor... OMIM:229300
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Lactic acidosis, Increased serum lactate, Congenital lactic acidosis ORPHA:79243
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Increased serum lactate, Hyperalaninemia, Severe lactic acidosis, Elevated circulating creatine k... OMIM:615418
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Elevated lactate:pyruvate ratio, Stress/infection-induced lactic acidosis, Increased serum lactate OMIM:252011
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Lactic acidosis OMIM:540000
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction velocity, Optic atrop... ORPHA:485421
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased serum lactate, Elevated circulating 2-hydroxybutyric acid concentration, Lactic acidosi... OMIM:605711
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Lactic acidosis, Hyperalaninemia, Increased serum lactate, Elevated circulating hexacosanoic acid... OMIM:614388
Optic Atrophy 5
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:610708
Pyridoxine-Dependent Epilepsy
Lactic acidosis ORPHA:3006
Liver Failure, Infantile, Transient
Lactic acidosis, Increased serum lactate, Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Maple Syrup Urine Disease
Lactic acidosis, Elevated circulating branched chain amino acid concentration, Elevated circulati... OMIM:248600
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hyperalaninemia, Decreased plasma free carnitine, Increased serum lactate, Metabolic acidosis OMIM:619048
Hypotonia-Cystinuria Syndrome
Lactic acidosis, Increased serum lactate, Hypocalcemia OMIM:606407
Mitochondrial Complex I Deficiency, Nuclear Type 39
Lactic acidosis OMIM:620135
Combined Oxidative Phosphorylation Deficiency 1
Elevated lactate:pyruvate ratio, Increased serum lactate, Metabolic acidosis OMIM:609060
Mitochondrial Complex I Deficiency, Nuclear Type 29
Elevated lactate:pyruvate ratio, Hyperalaninemia, Lactic acidosis, Increased serum lactate OMIM:618250
Hsd10 Disease, Infantile Type
Lactic acidosis, Increased serum lactate, Metabolic acidosis, Hyperammonemia ORPHA:391428
Encephalopathy, Ethylmalonic
Lactic acidosis, Elevated circulating butyrylcarnitine concentration OMIM:602473
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Metabolic acidosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Mitochondrial Complex I Deficiency, Nuclear Type 15
Increased serum lactate, Metabolic acidosis OMIM:618237
Mitochondrial Complex I Deficiency, Nuclear Type 18
Lactic acidosis OMIM:618240
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Increased serum lactate, Hyperkalemia, Metabolic acidosis, Hypoalb... OMIM:618528
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Methylmalonic acidemia, Lactic acidosis, Increased serum lactate, Elevated circulating creatine k... OMIM:612073
Hypokalemic Tubulopathy And Deafness
Acidosis, Increased circulating renin level OMIM:619406
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased serum pyruvate, Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate OMIM:604377
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number ORPHA:352470
Mitochondrial Complex I Deficiency, Nuclear Type 4
Increased serum pyruvate, Increased serum lactate, Metabolic acidosis OMIM:618225
Mitochondrial Complex I Deficiency, Nuclear Type 3
Metabolic acidosis OMIM:618224
Microcephaly, Amish Type
Lactic acidosis OMIM:607196
Methylmalonyl-Coa Epimerase Deficiency
Metabolic acidosis, Elevated circulating palmitoleylcarnitine concentration, Hyperhomocystinemia OMIM:251120
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Increased serum lactate, Hyperammonemia, Lactic... ORPHA:99901
Propionic Acidemia
Lactic acidosis, Metabolic acidosis, Hyperglycinemia, Hyperammonemia OMIM:606054
Leigh Syndrome
Lactic acidosis, Increased serum lactate OMIM:256000
Combined Oxidative Phosphorylation Deficiency 40
Lactic acidosis, Elevated circulating creatine kinase concentration OMIM:618835
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Metabolic acidosis ORPHA:26792
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Lactic acidosis, Increased circulating ferritin concentration, Increased serum lactate OMIM:600462
Combined Oxidative Phosphorylation Deficiency 42
Lactic acidosis, Elevated circulating creatine kinase concentration OMIM:618839
Colchicine Poisoning
Hyponatremia, Abnormality of acid-base homeostasis, Abnormal blood ion concentration, Hypophospha... ORPHA:31824
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Lactic acidosis, Metabolic acidosis, Hyperuricemia, Hyperalaninemia,... ORPHA:348
Combined Oxidative Phosphorylation Deficiency 32
Lactic acidosis, Increased serum lactate OMIM:617664
Diarrhea 4, Malabsorptive, Congenital
Hyperchloremic metabolic acidosis OMIM:610370
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Metabolic acidosis, Distal renal tubular acidosis, Hypokalemia OMIM:602722
Pyruvate Dehydrogenase E2 Deficiency
Lactic acidosis OMIM:245348
Galactosemia I
Increased level of galactitol in plasma, Metabolic acidosis, Hypergalactosemia, Increased level o... OMIM:230400
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lactic acidosis OMIM:618232
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia OMIM:614495
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration, Mixed respir... OMIM:145600
Isolated Atp Synthase Deficiency
Lactic acidosis, Hyperalaninemia, Hyperammonemia ORPHA:254913
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Lactic acidosis ORPHA:1170
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Lactic acidosis, Stress/infection-induced lactic acidosis, Elevated circulating creatine kinase c... OMIM:618775
Infantile Liver Failure Syndrome 1
Lactic acidosis OMIM:615438
Mitochondrial Complex I Deficiency, Nuclear Type 26
Elevated lactate:pyruvate ratio, Increased serum lactate, Metabolic acidosis OMIM:618247
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated circul... OMIM:619355
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Hy... ORPHA:71212
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Lactic acidosis, Elevated circulating creatine ... OMIM:609015
Myopathy With Lactic Acidosis, Hereditary
Lactic acidosis, Increased serum lactate, Elevated circulating creatine kinase concentration OMIM:255125
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Increased serum lactate, Lactic acidosis, Met... OMIM:619055
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Stress/infection-induced lactic acidosis, Abnormal circulating carnitine concentration, Renal tub... ORPHA:431361
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Metabolic acidosis, Distal renal tubular acidosis, Hypokalemia, Hyperchloremic metabolic acidosis OMIM:611590
Hsd10 Disease
Chronic lactic acidosis ORPHA:391417
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Lactic acidosis, Highly elevated creatine kinase, Increased serum lactate, Elevated circulating c... OMIM:251900
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lactic acidosis, Hyperglycinemia OMIM:614299
Ethylmalonic Encephalopathy
Lactic acidosis ORPHA:51188
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Elevated lactate:pyruvate ratio, Hyperglutamatemia, I... ORPHA:3008
Holocarboxylase Synthetase Deficiency
Lactic acidosis, Metabolic acidosis, Hyperammonemia OMIM:253270
Leber Hereditary Optic Neuropathy
Retinal vascular tortuosity, Mitochondrial respiratory chain defects, Optic atrophy, Retinal tela... ORPHA:104
Combined Oxidative Phosphorylation Deficiency 33
Lactic acidosis, Increased serum lactate, Elevated circulating creatine kinase concentration OMIM:617713
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Increased serum lactate, Metabolic acidosis OMIM:617290
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level, Metabolic acidosis OMIM:177735
Hyperglycinemia, Lactic Acidosis, And Seizures
Lactic acidosis, Increased serum lactate OMIM:614462
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... OMIM:616878
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Lactic acidosis, Increased serum lactate OMIM:617710
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:26791
Mitochondrial Neurogastrointestinal Encephalomyopathy
Lactic acidosis, Hyperalaninemia ORPHA:298
Combined Oxidative Phosphorylation Deficiency 19
Lactic acidosis, Metabolic acidosis OMIM:615595
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Acidosis OMIM:204730
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po... OMIM:616648
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Lactic acidosis, Low plasma citrulline OMIM:261680
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Adenine Phosphoribosyltransferase Deficiency
Metabolic acidosis, Elevated circulating creatinine concentration OMIM:614723
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... ORPHA:1215
Blue Diaper Syndrome
Metabolic acidosis, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Mitochondrial Complex I Deficiency, Nuclear Type 13
Metabolic acidosis, Acidosis OMIM:618235
Kearns-Sayre Syndrome
Lactic acidosis, Renal tubular acidosis, Renal Fanconi syndrome OMIM:530000
Combined Oxidative Phosphorylation Deficiency 11
Lactic acidosis, Renal tubular acidosis, Increased serum lactate OMIM:614922
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Elevated lactate:pyruvate ratio, Elevated circulating creatine kinase concentration... OMIM:610505
Combined Oxidative Phosphorylation Deficiency 37
Lactic acidosis, Hyperalaninemia, Increased serum lactate, Hypoalbuminemia OMIM:618329
Sulfite Oxidase Deficiency, Isolated
Metabolic acidosis, Elevated circulating creatine kinase concentration OMIM:272300
Mepan Syndrome
Decreased activity of mitochondrial complex IV, Optic atrophy, Decreased activity of mitochondria... ORPHA:508093
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase concentration... OMIM:620300
Mitochondrial Complex I Deficiency, Nuclear Type 37
Lactic acidosis, Increased serum lactate OMIM:619272
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Increased serum lactate, Hyperammonemia, Lactic acidosis, Renal tubular acidosis, Hyperalaninemia OMIM:615471
Pseudohypoaldosteronism, Type Iia
Hyperchloremic acidosis, Hyperkalemia OMIM:145260
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... OMIM:500013
Cholera
Hyponatremia, Abnormal blood ion concentration, Lactic acidosis, Hypokalemia, Hypocalcemia, Acidosis ORPHA:173
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Metabolic acidosis OMIM:611555
Hyperaldosteronism, Familial, Type Iii
Metabolic acidosis, Hypokalemia, Decreased circulating renin level OMIM:613677
Combined Oxidative Phosphorylation Deficiency 12
Lactic acidosis, Increased serum lactate, Elevated circulating alpha-fetoprotein concentration OMIM:614924
Combined Oxidative Phosphorylation Deficiency 14
Lactic acidosis, Increased serum lactate, Elevated hepatic iron concentration OMIM:614946
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:480864
D-Glyceric Aciduria
Metabolic acidosis, Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty... ORPHA:941
Fanconi Renotubular Syndrome 3
Metabolic acidosis, Elevated circulating creatinine concentration OMIM:615605
2,4-Dienoyl-Coa Reductase Deficiency
Increased serum lactate, Decreased plasma free carnitine, Hyperlysinemia, Metabolic acidosis OMIM:616034
Combined Oxidative Phosphorylation Deficiency 47
Increased serum lactate, Metabolic acidosis OMIM:618958
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Lactic acidosis, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbili... OMIM:251880
Canavan Disease
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Coenzyme Q10 Deficiency, Primary, 1
Lactic acidosis, Elevated circulating creatine kinase concentration OMIM:607426
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Metabolic acidosis OMIM:264350
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Lactic acidosis, Renal ... ORPHA:79240
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hyperammonemia, Metabolic acidosis, Hyperglycinemia, Decreased methylmalo... OMIM:251110
Hydroxykynureninuria
Metabolic acidosis, Abnormal circulating tryptophan concentration, Renal tubular acidosis ORPHA:79155
Isovaleric Acidemia
Ketoacidosis, Metabolic acidosis OMIM:243500
Fumarase Deficiency
Lactic acidosis, Metabolic acidosis, Decreased fumarate hydratase activity, Hyperbilirubinemia OMIM:606812
Diarrhea 12, With Microvillus Atrophy
Metabolic acidosis OMIM:619445
Pyruvate Dehydrogenase E1-Beta Deficiency
Lactic acidosis ORPHA:255138
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Lactic acidosis, Renal ... ORPHA:264580
Combined Oxidative Phosphorylation Defect Type 23
Lactic acidosis ORPHA:444013
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy, Facial palsy OMIM:602541
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Lactic acidosis, Hyperalaninemia, Increased serum lactate, Hyperammonemia OMIM:614052
Glucose/Galactose Malabsorption
Metabolic acidosis OMIM:606824
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hyperammonemia, Metabolic acidosis, Elevated serum anion gap, Hyperglycin... OMIM:251100
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Lactic acidosis, Renal Fanconi syndrome, Increased serum lactate OMIM:220110
Mitochondrial Complex I Deficiency, Nuclear Type 20
Lactic acidosis OMIM:611126
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Lactic acidosis, Increased serum lactate OMIM:617186
Pseudo-Torch Syndrome 2
Lactic acidosis OMIM:617397
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Metabolic acidosis OMIM:602199
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visua... OMIM:601152
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Lactic acidosis OMIM:614520
Hawkinsinuria
Hypertyrosinemia, Metabolic acidosis OMIM:140350
Leigh Syndrome
Increased serum lactate, Ketoacidosis, Lactic acidosis, Renal tubular acidosis, Hyperalaninemia ORPHA:506
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonic acidemia, Increased serum lactate, Metabolic acidosis OMIM:614105
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... ORPHA:352731
Sudden Cardiac Failure, Infantile
Metabolic acidosis OMIM:617222
3-Methylglutaconic Aciduria, Type I
Metabolic acidosis OMIM:250950
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Proximal renal tubular acidosis, Metabolic acidosis, Increased circul... ORPHA:427
Ethylene Glycol Poisoning
Hyperkalemia, Lactic acidosis, Metabolic acidosis, Elevated serum anion gap, Hypocalcemia ORPHA:31826
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Lactic acidosis, Renal Fanconi syndrome ORPHA:436271
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Mitochondrial swelling ORPHA:397744
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Lactic acidosis, Increased serum lactate, Elevated hemoglobin A1c OMIM:616539
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Fructose Intolerance, Hereditary
Bicarbonaturia, Proximal renal tubular acidosis, Lactic acidosis, Metabolic acidosis, Hyperuricem... OMIM:229600
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape, Optic atrophy ORPHA:543470
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Increased circulating renin level, Metabolic acidosis ORPHA:171876
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Lactic acidosis OMIM:619167
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Increased serum lactate, Metabolic acidosis ORPHA:88639
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Increased serum lactate, Metabolic acidosis OMIM:619053
Wars2-Related Combined Oxidative Phosphorylation Defect
Lactic acidosis, Increased serum lactate ORPHA:572798
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number ORPHA:352447
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Decreased ... OMIM:601455
Glycogen Storage Disease Ia
Lactic acidosis, Hyperlipidemia, Hyperuricemia OMIM:232200
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma... ORPHA:320401
Methanol Poisoning
Metabolic acidosis, Hyperlipidemia ORPHA:31825
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Metabolic acidosis, Hyperuricemia, Hyperammonemia OMIM:246450
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Acute hyperammonemia, Ketoacidosis, Hyperammonemia, Metabolic acidosis, Hyperleucinemia OMIM:210210
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Metabolic ketoacidosis, Hyperammonemia, Hyperglycinemia, Episodic metabol... OMIM:251000
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Interstitial Lung And Liver Disease
Lactic acidosis, Intraalveolar phospholipid accumulation, Hyperammonemia OMIM:615486
Beta-Ketothiolase Deficiency
Increased serum lactate, Ketoacidosis, Hyperammonemia, Metabolic acidosis, Hyperuricemia, Acidosis ORPHA:134
Barth Syndrome
Abnormal mitochondrial morphology OMIM:302060
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials OMIM:256600
Beta-Ureidopropionase Deficiency
Increased serum lactate, Elevated circulating N-carbamyl-beta-alanine concentration, Metabolic ac... OMIM:613161
Glycogen Storage Disease Ic
Lactic acidosis, Hyperlipidemia, Metabolic acidosis, Hyperuricemia OMIM:232240
Fanconi Renotubular Syndrome 1
Metabolic acidosis, Hypokalemia, Hypophosphatemia OMIM:134600
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Optic atrophy ORPHA:2971
Necrotizing Enterocolitis
Hyponatremia, Acidosis, Metabolic acidosis, Increased serum lactate ORPHA:391673
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Elevated lactate:pyruvate ratio, Increased serum lactate, Lactic acidosis, Meta... OMIM:124000
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia, Renal tubular acidosis, Metabolic acidosis OMIM:613404
Glycogen Storage Disease Ib
Lactic acidosis, Hyperlipidemia, Hyperuricemia OMIM:232220
Pearson Marrow-Pancreas Syndrome
Lactic acidosis, Renal Fanconi syndrome, Metabolic acidosis, Hyperbilirubinemia OMIM:557000
Serotonin Syndrome
Lactic acidosis ORPHA:43116
Isolated Complex I Deficiency
Increased serum pyruvate, Lactic acidosis ORPHA:2609
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Metabolic acidosis, Hypouricemia, Hypophosphatemia OMIM:616026
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia, Hyperkalemic metabolic acidosis OMIM:602088
Adult Acute Respiratory Distress Syndrome
Metabolic acidosis, Diabetic ketoacidosis ORPHA:70578
Pearson Syndrome
Elevated lactate:pyruvate ratio, Increased serum lactate, Hypomagnesemia, Lactic acidosis, Decrea... ORPHA:699
Cerebrooculofacioskeletal Syndrome 1
Metabolic acidosis OMIM:214150
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Lactic acidosis, Elevated circulating thymidine concentration, Elevated circulating deoxyuridine ... OMIM:603041
Infantile Neuroaxonal Dystrophy
Peripheral axonal neuropathy, Optic atrophy, Diffuse axonal swelling, Abnormal autonomic nervous ... ORPHA:35069
Mitochondrial Complex I Deficiency, Nuclear Type 1
Elevated lactate:pyruvate ratio, Hyperalaninemia, Lactic acidosis, Severe lactic acidosis OMIM:252010
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Lactic acidosis, Increased serum lactate ORPHA:17
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Metabolic acidosis, Abnormality of circulating enzyme level ORPHA:93598
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Cryptorchidism, Optic disc pallor ORPHA:314389
Congenital Short Bowel Syndrome
Metabolic acidosis OMIM:615237
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hyperchloremic metabolic acidosis, Hypophosphatemia OMIM:618913
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy OMIM:619518
Mohr-Tranebjaerg Syndrome
Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy, Abno... ORPHA:52368
Enteric Anendocrinosis
Hyperchloremic metabolic acidosis ORPHA:83620
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Melas
Lactic acidosis, Increased serum lactate ORPHA:550
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Lactic acidosis OMIM:616084
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Cystathioninemia, Metabolic acido... OMIM:277400
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Metabolic acidosis, Hypoalbuminemia, Hypocalcemia, Hypomagnes... OMIM:618183
Marburg Hemorrhagic Fever
Abnormality of acid-base homeostasis, Elevated circulating creatine kinase concentration, Hyperam... ORPHA:99826
Glutaric Acidemia I
Metabolic acidosis, Elevated circulating glutaric acid concentration OMIM:231670
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Renal tubular acidosis, Metabolic acidosis OMIM:208085
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Abnormality of visual evoked potentials ORPHA:1933
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Metabolic acidosis OMIM:201450
Fanconi-Bickel Syndrome
Metabolic acidosis, Renal tubular acidosis, Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Lactic acidosis, Metabolic acidosis OMIM:256810
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Episodic metabolic acidosis OMIM:210200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Lactic acidosis, Hyperuricemia, Hypercholesterolemia ORPHA:79259
Micro Syndrome
Abnormality of retinal pigmentation, Cryptorchidism, Optic atrophy, Retinal coloboma, Abnormality... ORPHA:2510
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials, Optic atrophy OMIM:616875
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Optic atrophy ORPHA:702
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Increased serum lactate, Metabolic acidosis OMIM:618252
Malignant Hyperthermia Of Anesthesia
Metabolic acidosis, Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Lactic acidosis, Hyperphosphate... ORPHA:466650
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality... OMIM:231550
D-Glyceric Aciduria
Metabolic acidosis, Nonketotic hyperglycinemia OMIM:220120
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy OMIM:125310
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:228308
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Increased serum lactate, Elevated circulating... ORPHA:36234
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials, Re... ORPHA:168491
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Mitochondrial Dna-Associated Leigh Syndrome
Segmental peripheral demyelination/remyelination, Abnormality of Krebs cycle metabolism, Optic at... ORPHA:255210
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Increased serum lactate, Hyperammonemia, Lactic acidosis, Severe lactic acidosis, Persistent lact... OMIM:220111
Microvillus Inclusion Disease
Metabolic acidosis ORPHA:2290
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ... ORPHA:79431
Fructose-1,6-Bisphosphatase Deficiency
Metabolic acidosis OMIM:229700
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Metabolic acidosis, Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia, Metabolic acidosis ORPHA:97362
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Metabolic acidosis, Hy... ORPHA:411634
Hereditary Fructose Intolerance
Metabolic acidosis, Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:480898
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Metabolic acidosi... ORPHA:94093
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methylmalonyl-CoA mutase activity OMIM:277410
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnormality ... ORPHA:206443
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Cardiogenic Shock
Increased serum lactate, Elevated circulating creatinine concentration, Metabolic acidosis ORPHA:97292
Histiocytoid Cardiomyopathy
Lactic acidosis ORPHA:137675
3-Hydroxy-3-Methylglutaric Aciduria
Increased serum lactate, Metabolic acidosis, Hyperuricemia, Hyperammonemia ORPHA:20
Tyrosinemia, Type I
Hypertyrosinemia, Elevated circulating alpha-fetoprotein concentration, Metabolic acidosis, Renal... OMIM:276700
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials ORPHA:309256
Amish Lethal Microcephaly
Metabolic acidosis ORPHA:99742
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials ORPHA:309263
Friedreich Ataxia 2
Mitochondrial malic enzyme reduced, Decreased pyruvate carboxylase activity, Abnormality of perip... OMIM:601992
Glycerol Kinase Deficiency
Ketoacidosis, Hypertriglyceridemia, Metabolic acidosis, Hyperglycerolemia OMIM:307030
Ruvalcaba Syndrome
Abnormality of visual evoked potentials, Cryptorchidism ORPHA:3121
Sepsis In Premature Infants
Metabolic acidosis, Elevated circulating C-reactive protein concentration ORPHA:90051
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials OMIM:614457
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
White-Sutton Syndrome
Abnormality of visual evoked potentials, Rod-cone dystrophy, Optic nerve hypoplasia OMIM:616364
Mogs-Cdg
Hydrocele testis, Absent brainstem auditory responses, Optic atrophy, Abnormality of visual evoke... ORPHA:79330
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypokalemia, Renal Fanconi syndrome, Hypophosphatemia, Acidosis... ORPHA:411629
Cln5 Disease
Abnormality of visual evoked potentials ORPHA:228360
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Hyperammonemia, Elevated circulating palmitoleylcarnit... ORPHA:79282
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Optic atrophy, Orthostatic hypotension due to autonomic dysf... ORPHA:309271
Lujo Hemorrhagic Fever
Metabolic acidosis, Elevated circulating C-reactive protein concentration ORPHA:319213
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Proximal renal tubular acidosis, Metabolic ac... ORPHA:2785
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Proximal renal tubular ... ORPHA:3337
Cystinosis, Nephropathic
Hyponatremia, Reduced blood urea nitrogen, Hypophosphatemia, Metabolic acidosis, Hypokalemia, Ren... OMIM:219800
Acute Adrenal Insufficiency
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia, Hype... ORPHA:95409
Proximal Spinal Muscular Atrophy
Metabolic acidosis ORPHA:70
Cockayne Syndrome A
Retinal atrophy, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased ... OMIM:216400
Hyperoxaluria, Primary, Type I
Metabolic acidosis, Hyperoxaluria OMIM:259900
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Metabolic acidosis, Renal tubular acidosis OMIM:619575
Cockayne Syndrome B
Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve conduction ... OMIM:133540
Immunodeficiency 87 And Autoimmunity
Metabolic acidosis, Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein co... OMIM:619573
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Episodic metabolic acidosis OMIM:201470
Scorpion Envenomation
Respiratory alkalosis, Increased circulating NT-proBNP concentration, Abnormality of acid-base ho... ORPHA:466677
Addison Disease
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia, Hype... ORPHA:85138
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials, Abnormal optic nerve morphology, Ocular albinism ORPHA:79430
Primary Hyperoxaluria
Metabolic acidosis, Hyperoxaluria ORPHA:416
Yellow Fever
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:99829
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials, Facial palsy ORPHA:258
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Abnormality of visual evoked potentials ORPHA:512
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Optic nerve compression ORPHA:667
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Increased serum lact... OMIM:619534
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Hyperkalemic metabolic acidosis, Hypochloremia ORPHA:90794
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials OMIM:203700

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for mt-Nd6

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to mt-Nd6.

No publications found that use IMPC mice or data for mt-Nd6.

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