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Welcome to the mitochondrial and progeria 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 |
| Von Willebrand Disease, Type 1 |
193400 |
| Abetalipoproteinemia |
200100 |
| Alstrom Syndrome |
203800 |
| Ataxia-telangiectasia |
208900 |
| Ataxia with oculomotor apraxia type 1 |
208920 |
| Seckel syndrome |
210600 |
| Bloom syndrome |
210900 |
| Jaeken Syndrome |
212065 |
| Congenital Disorder of Glycosylation, Type IIa |
212066 |
| Zellweger syndrome |
214100 |
| Cockayne syndrome |
216400 |
| Baller-Gerold Syndrome |
218600 |
| Cutis Laxa, Autosomal Recessive, TypeIIIA |
219150 |
| Cutis Laxa, Autosomal Recessive, Type IIA |
219200 |
| 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 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1 |
236670 |
| 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 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 3 |
253280 |
| Spinal muscular atrophy I |
253300 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 4 |
253800 |
| 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 |
| Congenital Disorder of Glycosylation, Type IIc |
266265 |
| 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 |
| Epileptic encephalopathy, early infantile, 36, |
300884 |
| Neurodegeneration with brain iron accumulation 5 |
300894 |
| Congenital Disorder of Glycosylation, Type IIm |
300896 |
| Congenital disorder of glycosylation type Iy |
300934 |
| IMMUNODEFICIENCY 47 |
300972 |
| 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 |
| Congenital Disorder of Glycosylation, Type Id |
601110 |
| Trichothiodystrophy |
601675 |
| Penttinen syndrome |
601812 |
| Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation |
602450 |
| Congenital Disorder of Glycosylation, Type Ib, |
602579 |
| Congenital Disorder of Glycosylation, Type Ic, |
603147 |
| Citrin deficiency |
603471 |
| Omenn syndrome |
603554 |
| Congenital Disorder of Glycosylation, Type IIf |
603585 |
| Salla disease |
604369 |
| Ataxia-telangiectasia-like disorder 1 |
604391 |
| North American Indian Childhood Cirrhosis |
604901 |
| Ataxia with oculomotor apraxia type 2 |
606002 |
| Congenital Disorder of Glycosylation, Type IIb |
606056 |
| Genitopatellar syndrome |
606170 |
| LIG4 Syndrome |
606593 |
| Seckel Syndrome 2 |
606744 |
| Hurler syndrome |
607014 |
| Parkinson disease-8 |
607060 |
| Congenital Disorder of Glycosylation, Type IId |
607091 |
| Spinocerebellar ataxia 17 |
607136 |
| Congenital Disorder Of Glycosylation, Type Ig |
607143 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
607155 |
| Spinocerebellar Ataxia with Axonal Neuropathy |
607250 |
| Spinocerebellar ataxia 4 |
607317 |
| Hypomyelinating Leukodystrophy 7 |
607694 |
| Congenital Disorder of Glycosylation, Type Ii |
607906 |
| Congenital Disorder of Glycosylation, Type Ij |
608093 |
| Congenital Disorder of Glycosylation, TYPE Ih |
608104 |
| Congenital disorder of glycosylation, type Ik, |
608540 |
| Congenital generalized lipodystrophy type 1 |
608594 |
| Congenital Disorder of Glycosylation, Type Il |
608776 |
| Congenital Disorder of Glycosylation, TYPE IIe |
608779 |
| Congenital Disorder of Glycosylation, Type Ie |
608799 |
| Hypomyelinating leukodystrophy 2 |
608804 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), Type B, 6 |
608840 |
| Congenital Disorder of Glycosylation, Type If, |
609180 |
| Schindler disease |
609241 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
609308 |
| Natural killer cell and glucocorticoid deficiency with DNA repair defect |
609981 |
| Hypomyelinating leukodystrophy 5 |
610532 |
| Xeroderma pigmentosum group B |
610651 |
| Congenital Disorder of Glycosylation, Type Im |
610768 |
| Pitt-Hopkins Syndrome |
610954 |
| Congenital Disorder of Glycosylation, TYPE IIg |
611209 |
| Severe Combined Immunodeficiency with Microcephaly, Growth Retardation and Sensitivity to Ionizing Radiation |
611291 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
611588 |
| Cardiomyopathy, Dilated, 1X |
611615 |
| Epilepsy, Progressive Myoclonic 3 |
611726 |
| RIDDLE syndrome |
611943 |
| Congenital Disorder of Glycosylation, Type In |
612015 |
| Fontaine progeroid syndrome |
612289 |
| Congenital Disorder of Glycosylation, Type Iq |
612379 |
| Kahrizi Syndrome |
612713 |
| Guanidinoacetate methyltransferase deficiency |
612736 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C |
612937 |
| Epileptic Encephalopathy, Early Infantile, 50 |
612940 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A,2 |
613150 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 1 |
613155 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), Type B, 2 |
613156 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
613157 |
| Warsaw Breakage Syndrome |
613398 |
| Microcephaly, seizures and developmental delay |
613402 |
| Amyotrophic lateral sclerosis 12 |
613435 |
| Congenital Disorder of Glycosylation, TYPE IIi |
613612 |
| Congenital Disorder Of Glycosylation, Type Ip |
613661 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
613818 |
| Retinitis Pigmentosa 59 |
613861 |
| Nestor-Guillermo progeria syndrome |
614008 |
| Keppen-Lubinsky syndrome |
614098 |
| Autosomal recessive nonsyndromic mental retardation 15 |
614202 |
| Congenital Disorder of Glycosylation, TYPE IIl |
614576 |
| Trichohepatoenteric Syndrome 2 |
614602 |
| UV-sensitive syndrome |
614640 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 7 |
614643 |
| Congenital Disorder of Glycosylation, Type IIk |
614727 |
| Karyomegalic interstitial nephritis |
614817 |
| Alternating Hemiplegia Of Childhood 2 |
614820 |
| Congenital Disorder of Glycosylation, Type It |
614921 |
| Spastic Paraplegia 49 |
615031 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 10 |
615041 |
| Congenital Disorder of Glycosylation, Type Iu |
615042 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 11 |
615181 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 12 |
615249 |
| Congenital Disorder of Deglycosylation |
615273 |
| Muscular Dystrophy-Dystroglycanopathy(Congenital with Brain and Eye Anomalies), Type A, 13 |
615287 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
615352 |
| Childhood-onset epileptic encephalopathy |
615369 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome |
615381 |
| Congenital Disorder of Glycosylation, Type Iw |
615596 |
| Congenital Disorder of Glycosylation, Type Ix |
615597 |
| Desbuquois Dysplasia 2 |
615777 |
| Immunodeficiency 23 |
615816 |
| 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 |
| Epileptic Encephalopathy, Early Infantile |
616457 |
| Progressive external ophthalmoplegia B2 |
616479 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 9 |
616538 |
| Short stature, microcephaly, and endocrine dysfunction |
616541 |
| Charcot-Marie-Tooth disease type 2Z |
616688 |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn, CDG2N |
616721 |
| Congenital Disorder of Glycosylation, TYPE IIo, |
616828 |
| Congenital Disorder of Glycosylation, Type IIp |
616829 |
| Neurodegeneration with Ataxia Dystonia and Gaze Palsy Childhood-Onset |
617145 |
| Intellectual developmental disorder with dysmorphic facies and ptosis |
617333 |
| Congenital Disorder of Glycosylation, Type IIq |
617395 |
| Cutis Laxa, Autosomal Recessive, Type IID |
617403 |
| Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability |
617404 |
| Primary microcephaly 18 |
617520 |
| Rahman syndrome |
617537 |
| Spinocerebellar Ataxia Autosomal Recessive 25 |
617584 |
| Spinocerebellar ataxia 26 |
617633 |
| Developmental Delay and Seizures with or without Movement Abnormalities |
617836 |
| Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures |
617977 |
| Congenital Disorder of Glycosylation with Defective Fucosylation 1 |
618005 |
| 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 and progeria database. On this site you can find information regarding the clinical features seen in mitochondrial diseases, premature aging diseases (progerias) and many other genetic diseases. You can even test if some symptoms resemble what is seen in mitochondrial disorders or progerias. To facilitate this analyzis we created various tools to quantitatively determine if a disease could be caused by mitochondrial pathology or be a progeria. 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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