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Welcome to the mitochondrial disease database |
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Contact us |
To see the network you need a html-5 complient browser. Each dots represents a disease in the database and the connecting lines are the traits that connect the diseases. The shorter, darker and thicker the line the more features the two diseases share. Hold the mouse pointer over each dot to see the name of the disease and the connections for that disease. The network is best shown in the Chrome or Safari browsers.
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Mitochondrial |
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Unknown |
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Non - mitochondrial |
Below is a bar graph of the top traits (signs, symptoms, laboratory findings etc.) seen when averaging across all mitochondrial diseases in the database. Further down you can see each disease that is currently in the database. If you wish to suggest the addition of a disease you can do so at the bottom of this page. Top 20 traits seen in mitochondrial diseases 
Diseases in the database
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Mitochondrial |
| Mitochondrial complex III deficiency nuclear type 1 |
124000 |
| Progressive external ophthalmoplegia, autosomal dominant 1 |
157640 |
| Autosomal dominant optic atrophy |
165500 |
| Medium-Chain Acyl-CoA Dehydrogenase Deficiency |
201450 |
| Short Chain Acyl-CoA Dehydrogenase Deficiency |
201470 |
| Very Long Chain Acyl-CoA Dehydrogenase Deficiency |
201475 |
| Alpers-Huttenlocher Syndrome |
203700 |
| Sengers syndrome |
212350 |
| French Canadian Leigh syndrome |
220111 |
| Friedreich ataxia |
229300 |
| 3-Hydroxyacyl-CoA Dehydrogenase Deficiency |
231530 |
| Multiple Acyl-CoA Dehydrogenase Deficiency |
231680 |
| Encephalomyopathy with methylmalonic aciduria |
245400 |
| 3-Methylglutaconic aciduria type 1 |
250950 |
| Deoxyguanosine kinase deficiency |
251880 |
| Succinate dehydrogenase A deficiency |
252011 |
| Hereditary myopathy with lactic acidosis |
255125 |
| Leigh Syndrome |
256000 |
| Mitochondrial DNA depletion syndrome 6 |
256810 |
| 3-Methylglutaconic aciduria type 3 |
258501 |
| Infantile onset spinocerebellar ataxia |
271245 |
| Barth syndrome |
302060 |
| Pyruvate dehydrogenase complex deficiency |
312170 |
| Maternally transmitted diabetes and deafness syndrome |
520000 |
| Kearns-Sayre syndrome |
530000 |
| Leber optic atrophy |
535000 |
| Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes |
540000 |
| Myoclonic Epilepsy associated with Ragged Red Fibers |
545000 |
| Neuropathy Ataxia and Retinitis Pigmentosa |
551500 |
| Pearson syndrome |
557000 |
| Mitochondrial neurogastrointestinal encephalopathy |
603041 |
| Mitochondrial Complex V Deficiency Nuclear Type 1 |
604273 |
| Spastic paraplegia 7 |
607259 |
| Coenzyme Q10 deficiency |
607426 |
| Sensory ataxic neuropathy, dysarthria and ophthalmoparesis |
607459 |
| Pyruvate dehydrogenase phosphatase deficiency |
608782 |
| Long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency |
609016 |
| Charcot-Marie-Tooth disease, type 2A2 |
609260 |
| Progressive external ophthalmoplegia, autosomal dominant, 3 |
609286 |
| Thymidine kinase 2 deficiency |
609560 |
| 3-methylglutaconic aciduria type 5 |
610198 |
| Spinocerebellar ataxia 28 |
610246 |
| Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation |
611105 |
| Encephalomyopathy with methylmalonic aciduria |
612073 |
| Encephalomyopathy with renal tubulopathy |
612075 |
| Hypomyelinating leukodystrophy 4 |
612233 |
| Retinitis pigmentosa 46 |
612572 |
| Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay |
613076 |
| Myopathy, Lactic acidosis, and Sideroblastic Anemia 2 |
613561 |
| Mitochondrial Complex V Deficiency 2 |
614052 |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
614739 |
| Mitochondrial DNA depletion syndrome 11 |
615084 |
| Progressive external ophthalmoplegia, autosomal dominant 6 |
615156 |
| Mitochondrial DNA depletion syndrome 13 |
615471 |
| Neurodevelopmental Disorder Mitochondrial With Abnormal Movements And Lactic Acidosis With Or Without Seizures |
617710 |
Unknown pathogenesis or possibly mitochondrial |
| Acromicric dysplasia |
102370 |
| Alzheimer disease |
104300 |
| Amyotrophic lateral sclerosis |
105400 |
| Diamond-Blackfan Anemia 1 |
105650 |
| Machado-Joseph disease |
109150 |
| Branchiooculofacial syndrome |
113620 |
| Dilated Cardiomyopathy 1A |
115200 |
| Lynch syndrome |
120435 |
| Dyskeratosis congenita |
127550 |
| Huntington disease |
143100 |
| Li-Fraumeni syndrome |
151623 |
| Treacher Collins syndrome 1 |
154500 |
| Centronuclear myopathy 1 |
160150 |
| Noonan syndrome |
163950 |
| Parkinson disease |
168600 |
| Kindler syndrome |
173650 |
| Prader-Willi Syndrome |
176270 |
| Hutchinson-Gilford progeria |
176670 |
| Emery-Dreifuss Muscular Dystrophy 2 |
181350 |
| Abetalipoproteinemia |
200100 |
| Alstrom Syndrome |
203800 |
| Ataxia-telangiectasia |
208900 |
| Ataxia with oculomotor apraxia type 1 |
208920 |
| Seckel syndrome |
210600 |
| Bloom syndrome |
210900 |
| Jaeken Syndrome |
212065 |
| Zellweger syndrome |
214100 |
| Cockayne syndrome |
216400 |
| Baller-Gerold Syndrome |
218600 |
| Wolfram syndrome |
222300 |
| Meier-Gorlin syndrome |
224690 |
| Aicardi-Goutieres Syndrome 1 |
225750 |
| Fanconi anemia |
227650 |
| Growth retardation, alopecia, pseudoanodontia, and optic atrophy |
230740 |
| Gaucher disease |
230800 |
| Geroderma osteodysplasticum |
231070 |
| Glycogen Storage Disease IA |
232200 |
| Glycogen Storage Disease Type II |
232300 |
| Woodhouse-Sakati Syndrome |
241080 |
| Vici syndrome |
242840 |
| Schimke Immunoosseous Dysplasia |
242900 |
| Krabbe disease |
245200 |
| Marinesco-Sjogren Syndrome |
248800 |
| Metachromatic leukodystrophy |
250100 |
| Methionine Adenosyltransferase I/III Deficiency |
250850 |
| Jawad Syndrome |
251255 |
| Nijmegen breakage syndrome |
251260 |
| Mucolipidosis II |
252500 |
| Spinal muscular atrophy I |
253300 |
| Myoclonic epilepsy of Lafora |
254780 |
| Centronuclear myopathy 2 |
255200 |
| Neuronal Ceroid Lipofuscinosis |
256730 |
| Niemann-Pick disease |
257200 |
| Niemann-Pick disease type C |
257220 |
| Mosaic variegated aneuploidy syndrome-1 |
257300 |
| Shwachman syndrome |
260400 |
| Phenylketonuria |
261600 |
| Wiedemann-Rautenstrauch syndrome |
264090 |
| Glutathione synthetase deficiency |
266130 |
| Rapadilino Syndrome |
266280 |
| Refsum disease |
266500 |
| Roberts-SC phocomelia syndrome |
268300 |
| Rothmund-Thomson syndrome |
268400 |
| Sandhoff Disease |
268800 |
| Congenital generalized lipodystrophy type 2 |
269700 |
| Short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay syndrome |
269880 |
| Sjogren-Larsson syndrome |
270200 |
| Charlevoix-Saguenay |
270550 |
| Spastic Paraplegia 15 |
270700 |
| Canavan disease |
271900 |
| Multiple sulfatase deficiency |
272200 |
| Tay-Sachs Disease |
272800 |
| Ataxia with selective vitamin E deficiency |
277460 |
| Weaver syndrome |
277590 |
| Werner syndrome |
277700 |
| Wilson disease |
277900 |
| Wolman disease |
278000 |
| Xeroderma pigmentosum group A |
278700 |
| Xeroderma pigmentosum group C |
278720 |
| Xeroderma pigmentosum group E |
278740 |
| Xeroderma pigmentosum group V |
278750 |
| Xeroderma pigmentosum group F |
278760 |
| Xeroderma pigmentosum group G |
278780 |
| Danon disease |
300257 |
| Mental Retardation X-Linked Syndromic Hedera Type |
300423 |
| Fragile X syndrome |
300624 |
| Mental Retardation And Macrocephaly Syndrome |
300706 |
| Ogden syndrome |
300855 |
| Neurodegeneration with brain iron accumulation 5 |
300894 |
| Congenital disorder of glycosylation type Iy |
300934 |
| Van Esch-O'driscoll Syndrome |
301030 |
| Basilicata-Akhtar syndrome |
301032 |
| Fabry disease |
301500 |
| Arts syndrome |
301835 |
| Börjeson–Forssman–Lehmann syndrome |
301900 |
| Pettigrew syndrome |
304340 |
| Aarskog-Scott syndrome |
305400 |
| Renpenning syndrome |
309500 |
| Duchenne Muscular Dystrophy |
310200 |
| Pelizaeus-Merzbacher Disease |
312080 |
| Rett syndrome |
312750 |
| Aging |
502000 |
| Charcot-Marie-Tooth disease type 2B |
600882 |
| Trichothiodystrophy |
601675 |
| Penttinen syndrome |
601812 |
| Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation |
602450 |
| Citrin deficiency |
603471 |
| Omenn syndrome |
603554 |
| Salla disease |
604369 |
| Ataxia-telangiectasia-like disorder 1 |
604391 |
| North American Indian Childhood Cirrhosis |
604901 |
| Ataxia with oculomotor apraxia type 2 |
606002 |
| Genitopatellar syndrome |
606170 |
| LIG4 Syndrome |
606593 |
| Seckel Syndrome 2 |
606744 |
| Hurler syndrome |
607014 |
| Parkinson disease-8 |
607060 |
| Spinocerebellar ataxia 17 |
607136 |
| Spinocerebellar Ataxia with Axonal Neuropathy |
607250 |
| Spinocerebellar ataxia 4 |
607317 |
| Hypomyelinating Leukodystrophy 7 |
607694 |
| Congenital generalized lipodystrophy type 1 |
608594 |
| Hypomyelinating leukodystrophy 2 |
608804 |
| Schindler disease |
609241 |
| Natural killer cell and glucocorticoid deficiency with DNA repair defect |
609981 |
| Hypomyelinating leukodystrophy 5 |
610532 |
| Xeroderma pigmentosum group B |
610651 |
| Pitt-Hopkins Syndrome |
610954 |
| Severe Combined Immunodeficiency with Microcephaly, Growth Retardation and Sensitivity to Ionizing Radiation |
611291 |
| Epilepsy, Progressive Myoclonic 3 |
611726 |
| RIDDLE syndrome |
611943 |
| Fontaine progeroid syndrome |
612289 |
| Guanidinoacetate methyltransferase deficiency |
612736 |
| Warsaw Breakage Syndrome |
613398 |
| Microcephaly, seizures and developmental delay |
613402 |
| Amyotrophic lateral sclerosis 12 |
613435 |
| Nestor-Guillermo progeria syndrome |
614008 |
| Keppen-Lubinsky syndrome |
614098 |
| Autosomal recessive nonsyndromic mental retardation 15 |
614202 |
| UV-sensitive syndrome |
614640 |
| Karyomegalic interstitial nephritis |
614817 |
| Alternating Hemiplegia Of Childhood 2 |
614820 |
| Spastic Paraplegia 49 |
615031 |
| Congenital Disorder of Deglycosylation |
615273 |
| Childhood-onset epileptic encephalopathy |
615369 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome |
615381 |
| Early Infantile Epileptic Encephalopathy 25 |
615905 |
| Ataxia-telangiectasia-like disorder-2 |
615919 |
| Ruijs-Aalfs syndrome |
616200 |
| Early infantile epileptic encephalopathy-28 |
616211 |
| Ataxia-Oculomotor Apraxia 4 |
616267 |
| Arboleda-Tham syndrome |
616268 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis-3 |
616437 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis-4 |
616439 |
| Progressive external ophthalmoplegia B2 |
616479 |
| Short stature, microcephaly, and endocrine dysfunction |
616541 |
| Neurodegeneration with Ataxia Dystonia and Gaze Palsy Childhood-Onset |
617145 |
| Intellectual developmental disorder with dysmorphic facies and ptosis |
617333 |
| Primary microcephaly 18 |
617520 |
| Rahman syndrome |
617537 |
| Spinocerebellar Ataxia Autosomal Recessive 25 |
617584 |
| Spinocerebellar ataxia 26 |
617633 |
| Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures |
617977 |
| Saul-Wilson syndrome |
618150 |
| Childhood-onset neurodegeneration, stress-induced, with variable ataxia and seizures |
618170 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
618453 |
| Marbach-Rustad progeroid syndrome |
619322 |
| RECON syndrome |
999999 |
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The image on the left is a clustermap of how the diseases in the database correlated with each other based solely on their traits. Please be patient and wait for the image to finish loading. Each dot represents a referenced trait with the intensity of the color reflecting the prevalence of the trait in that particular disease. Move the cursor over the image to get a closer look. The cluster was made using cluster 3.0. Uncentered similarity metrics and average linkage was used to generate the clustering. If you wish you can download the data from the export link below and generate your own clustermap.
The cluster map was updated on May 16, 2014. |
This website was created by Morten Scheibye-Knudsen and Karsten Scheibye-Alsing, Center for Healthy Aging, University of Copenhagen, Denmark.
Please cite this paper when using the database in scientific publications:
Scheibye-Knudsen,M., Scheibye-Alsing,K., Canugovi,C., Croteau,D.L., & Bohr,V.A. A novel diagnostic tool reveals mitochondrial pathology in human diseases and aging. Aging (Albany. NY) 5, 192-208 (2013).
For an example of the use of the database please see this recent Cell paper or this PNAS paper
If you have any feedback or if you wish to become a reviewer of a disease on the website please contact us.
Welcome to the mitochondrial database.On this site you can find information regarding the clinical features seen in mitochondrial diseases. You can even test if some symptoms resemble what is seen in mitochondrial disorders. To facilitate this analyzis we created various tools to quantitatively determine if a disease could be caused by mitochondrial pathology. We recommend reading our tutorial to familiarize yourself with the database.
If you wish you can test a disease test a disease using our clustering algorithms to see how it associates with the diseases in the database. You can also investigate the traits most often associated with mitochondrial diseases or explore how the diseases cluster with each other. It is also possible to investigate how the diseases are associated with each other in the network section. We created this site for the scientific community to investigate possible links between clinical symptoms seen in genetic diseases and mitochondrial pathology. The idea was based on the observation that several rare diseases of unknown etiology displayed similar clinical presentation to known mitochondrial diseases. Here is a brief overview of the data used to create the database.
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