Welcome to the mitochondrial and progeria disease database
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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.
Mitochondrial
Unknown
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
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
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.
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. Marfan syndrome ADOA Alpers Huttenlocher Cystic fibrosis Friedreich ataxia MELAS MERRF Coenzyme Q10 deficiency Alpha 1 antitrypsin deficiency Ehlers Danlos syndrome Apert syndrome Alkaptonuria Achondroplasia Aicardi-Goutieres Marfan syndrome ADOA Alpers Huttenlocher Cystic fibrosis Friedreich ataxia MELAS MERRF Coenzyme Q10 deficiency Alpha 1 antitrypsin deficiency Ehlers Danlos syndrome Apert syndrome Alkaptonuria Achondroplasia Aicardi-Goutieres
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