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Rapporto sulle condizioni · Metabolico

Malattia mitocondriale

Un gruppo di malattie ereditarie che compromettono i mitocondri, le strutture che producono energia nelle cellule, causate da varianti in geni nucleari come POLG o nel DNA mitocondriale. La sindrome di Leigh e le neuropatie ottiche ereditarie sono trattate in relazioni separate.

Un rapporto sulle condizioni cerca varianti rare note per causare le condizioni che copre.

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Le 9 patologie che analizziamo

Deficit del complesso della catena respiratoria mitocondriale

Deficit isolati dei complessi I, II, III, IV o V, causati da varianti in geni nucleari o mitocondriali, che possono interessare il cervello, i muscoli, il cuore, il fegato e altri organi ad alto consumo energetico.

Cosa cambia con una diagnosi

Conoscere questa condizione può porre fine a una ricerca diagnostica e guidare il monitoraggio degli organi interessati e l'evitamento di farmaci tossici per i mitocondri.

Geni analizzati

Conosciuto anche come

isolated oxidative phosphorylation complex disorder; mitochondrial complex deficiency

Include 93 sottotipi correlati ↓
  • acyl-CoA dehydrogenase 9 deficiency
  • cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
  • cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
  • cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
  • cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
  • congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
  • COX deficiency, benign infantile mitochondrial myopathy
  • Leber hereditary optic neuropathy, autosomal recessive
  • Leber-like hereditary optic neuropathy, autosomal recessive 1
  • Leber-like hereditary optic neuropathy, autosomal recessive 2
  • mitochondrial complex 1 deficiency, nuclear type 35
  • mitochondrial complex 4 deficiency, nuclear type 25
  • mitochondrial complex I deficiency
  • mitochondrial complex I deficiency, mitochondrial type
  • mitochondrial complex I deficiency, mitochondrial type 1
  • mitochondrial complex I deficiency, nuclear type
  • mitochondrial complex I deficiency, nuclear type 1
  • mitochondrial complex I deficiency, nuclear type 10
  • mitochondrial complex I deficiency, nuclear type 11
  • mitochondrial complex I deficiency, nuclear type 12
  • mitochondrial complex I deficiency, nuclear type 13
  • mitochondrial complex I deficiency, nuclear type 14
  • mitochondrial complex I deficiency, nuclear type 15
  • mitochondrial complex I deficiency, nuclear type 16
  • mitochondrial complex I deficiency, nuclear type 17
  • mitochondrial complex I deficiency, nuclear type 18
  • mitochondrial complex I deficiency, nuclear type 19
  • mitochondrial complex I deficiency, nuclear type 2
  • mitochondrial complex I deficiency, nuclear type 21
  • mitochondrial complex I deficiency, nuclear type 22
  • mitochondrial complex I deficiency, nuclear type 23
  • mitochondrial complex I deficiency, nuclear type 24
  • mitochondrial complex I deficiency, nuclear type 25
  • mitochondrial complex I deficiency, nuclear type 26
  • mitochondrial complex I deficiency, nuclear type 27
  • mitochondrial complex I deficiency, nuclear type 28
  • mitochondrial complex I deficiency, nuclear type 29
  • mitochondrial complex I deficiency, nuclear type 3
  • mitochondrial complex I deficiency, nuclear type 30
  • mitochondrial complex I deficiency, nuclear type 31
  • mitochondrial complex I deficiency, nuclear type 32
  • mitochondrial complex I deficiency, nuclear type 33
  • mitochondrial complex I deficiency, nuclear type 34
  • mitochondrial complex I deficiency, nuclear type 36
  • mitochondrial complex I deficiency, nuclear type 37
  • mitochondrial complex I deficiency, nuclear type 39
  • mitochondrial complex I deficiency, nuclear type 4
  • mitochondrial complex I deficiency, nuclear type 5
  • mitochondrial complex I deficiency, nuclear type 6
  • mitochondrial complex I deficiency, nuclear type 7
  • mitochondrial complex I deficiency, nuclear type 8
  • mitochondrial complex I deficiency, nuclear type 9
  • mitochondrial complex III deficiency
  • mitochondrial complex III deficiency nuclear type 1
  • mitochondrial complex III deficiency nuclear type 2
  • mitochondrial complex III deficiency nuclear type 3
  • mitochondrial complex III deficiency nuclear type 4
  • mitochondrial complex III deficiency nuclear type 5
  • mitochondrial complex III deficiency nuclear type 6
  • mitochondrial complex III deficiency nuclear type 7
  • mitochondrial complex III deficiency nuclear type 8
  • mitochondrial complex III deficiency nuclear type 9
  • mitochondrial complex III deficiency, nuclear type
  • mitochondrial complex III deficiency, nuclear type 10
  • mitochondrial complex III deficiency, nuclear type 11
  • mitochondrial complex IV deficiency, nuclear type 1
  • mitochondrial complex IV deficiency, nuclear type 10
  • mitochondrial complex IV deficiency, nuclear type 11
  • mitochondrial complex IV deficiency, nuclear type 12
  • mitochondrial complex IV deficiency, nuclear type 14
  • mitochondrial complex IV deficiency, nuclear type 15
  • mitochondrial complex IV deficiency, nuclear type 16
  • mitochondrial complex IV deficiency, nuclear type 17
  • mitochondrial complex IV deficiency, nuclear type 18
  • mitochondrial complex IV deficiency, nuclear type 19
  • mitochondrial complex IV deficiency, nuclear type 20
  • mitochondrial complex IV deficiency, nuclear type 21
  • mitochondrial complex IV deficiency, nuclear type 22
  • mitochondrial complex IV deficiency, nuclear type 23
  • mitochondrial complex IV deficiency, nuclear type 24
  • mitochondrial complex IV deficiency, nuclear type 3
  • mitochondrial complex IV deficiency, nuclear type 4
  • mitochondrial complex IV deficiency, nuclear type 7
  • mitochondrial complex IV deficiency, nuclear type 8
  • mitochondrial complex IV deficiency, nuclear-type
  • mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
  • mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • mitochondrial complex V (ATP synthase) deficiency, nuclear type 3
  • mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B
  • mitochondrial complex V (ATP synthase) deficiency, nuclear type 5
  • pancreatic insufficiency-anemia-hyperostosis syndrome
  • renal tubulopathy-encephalopathy-liver failure syndrome
  • SDHC-related Mitochondrial Disease
MONDO:0000066Orphanet 254846MedGen 1843270

Deficit combinato della fosforilazione ossidativa

Malattie, di solito causate da geni nucleari coinvolti nella produzione di proteine mitocondriali, che riducono contemporaneamente più complessi della catena respiratoria e spesso causano gravi malattie multisistemiche in età infantile.

Cosa cambia con una diagnosi

Conoscere questa condizione può porre fine a una ricerca diagnostica e guidare il monitoraggio e le cure di supporto.

Geni analizzati

Include 70 sottotipi correlati ↓
  • combined oxidative phosphorylation defect type 11
  • combined oxidative phosphorylation defect type 13
  • combined oxidative phosphorylation defect type 14
  • combined oxidative phosphorylation defect type 15
  • combined oxidative phosphorylation defect type 17
  • combined oxidative phosphorylation defect type 2
  • combined oxidative phosphorylation defect type 20
  • combined oxidative phosphorylation defect type 21
  • combined oxidative phosphorylation defect type 23
  • combined oxidative phosphorylation defect type 24
  • combined oxidative phosphorylation defect type 25
  • combined oxidative phosphorylation defect type 26
  • combined oxidative phosphorylation defect type 27
  • combined oxidative phosphorylation defect type 30
  • combined oxidative phosphorylation defect type 4
  • combined oxidative phosphorylation defect type 7
  • combined oxidative phosphorylation defect type 8
  • combined oxidative phosphorylation defect type 9
  • combined oxidative phosphorylation deficiency 19
  • combined oxidative phosphorylation deficiency 22
  • combined oxidative phosphorylation deficiency 28
  • combined oxidative phosphorylation deficiency 29
  • combined oxidative phosphorylation deficiency 32
  • combined oxidative phosphorylation deficiency 33
  • combined oxidative phosphorylation deficiency 34
  • combined oxidative phosphorylation deficiency 35
  • combined oxidative phosphorylation deficiency 36
  • combined oxidative phosphorylation deficiency 37
  • combined oxidative phosphorylation deficiency 38
  • combined oxidative phosphorylation deficiency 39
  • combined oxidative phosphorylation deficiency 40
  • combined oxidative phosphorylation deficiency 41
  • combined oxidative phosphorylation deficiency 42
  • combined oxidative phosphorylation deficiency 43
  • combined oxidative phosphorylation deficiency 44
  • combined oxidative phosphorylation deficiency 45
  • combined oxidative phosphorylation deficiency 46
  • combined oxidative phosphorylation deficiency 47
  • combined oxidative phosphorylation deficiency 48
  • combined oxidative phosphorylation deficiency 49
  • combined oxidative phosphorylation deficiency 50
  • combined oxidative phosphorylation deficiency 51
  • combined oxidative phosphorylation deficiency 52
  • combined oxidative phosphorylation deficiency 53
  • combined oxidative phosphorylation deficiency 54
  • combined oxidative phosphorylation deficiency 55
  • combined oxidative phosphorylation deficiency 56
  • combined oxidative phosphorylation deficiency 57
  • combined oxidative phosphorylation deficiency 58
  • combined oxidative phosphorylation deficiency 59
  • combined oxidative phosphorylation deficiency 60
  • fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
  • growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
  • hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
  • hypotonia with lactic acidemia and hyperammonemia
  • infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
  • lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
  • leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
  • mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1
  • mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6
  • mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
  • mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • mitochondrial complex V (ATP synthase) deficiency, nuclear type 3
  • mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A
  • mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B
  • mitochondrial complex V (ATP synthase) deficiency, nuclear type 5
  • mitochondrial complex V (ATP synthase) deficiency, nuclear type 7
  • mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • mitochondrial proton-transporting ATP synthase complex deficiency
  • severe X-linked mitochondrial encephalomyopathy
MONDO:0000732MedGen 1626645

Sindrome da deplezione del DNA mitocondriale

Causata da varianti in geni nucleari come POLG, TWNK, TK2, DGUOK, MPV17, RRM2B e SUCLA2, che riducono la quantità di DNA mitocondriale e possono provocare malattie del muscolo, del fegato o del cervello.

Cosa cambia con una diagnosi

Conoscere questa condizione ha un'applicazione diretta: il valproato deve essere evitato nella malattia da POLG a causa del rischio di insufficienza epatica fatale, e il deficit di TK2 dispone di una terapia con nucleosidi.

Geni analizzati

Conosciuto anche come

mtDNA depletion syndrome

Include 32 sottotipi correlati ↓
  • AFG3L2-related optic atrophy and/or spastic ataxia spectrum
  • mitochondrial DNA deletion syndrome with progressive myopathy
  • mitochondrial DNA depletion syndrome 1
  • mitochondrial DNA depletion syndrome 11
  • mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
  • mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
  • mitochondrial DNA depletion syndrome 13
  • mitochondrial dna depletion syndrome 14A (encephalomyopathic type)
  • mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type)
  • mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
  • mitochondrial DNA depletion syndrome 16 (hepatic type)
  • mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
  • mitochondrial DNA depletion syndrome 17
  • mitochondrial DNA depletion syndrome 18
  • mitochondrial DNA depletion syndrome 19
  • mitochondrial DNA depletion syndrome 20 (mngie type)
  • mitochondrial dna depletion syndrome 21
  • mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
  • mitochondrial DNA depletion syndrome 4a
  • mitochondrial DNA depletion syndrome 4b
  • mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
  • mitochondrial DNA depletion syndrome 8a
  • mitochondrial DNA depletion syndrome 9
  • mitochondrial DNA depletion syndrome, encephalomyopathic form
  • mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • mitochondrial DNA depletion syndrome, hepatocerebral form
  • mitochondrial DNA depletion syndrome, hepatocerebrorenal form
  • mitochondrial DNA depletion syndrome, myopathic form
  • optic atrophy 12
  • Sengers syndrome
  • spastic ataxia 5
MONDO:0018158Orphanet 35698MedGen 452449

Oftalmoplegia cronica progressiva con delezioni del DNA mitocondriale

Causata da varianti in geni nucleari come POLG, TWNK, SLC25A4 e RRM2B che determinano molteplici delezioni del DNA mitocondriale, provocando ptosi palpebrale, debolezza dei movimenti oculari e debolezza muscolare, di solito in età adulta.

Cosa cambia con una diagnosi

Conoscere questa condizione guida il monitoraggio della funzione oculare, cardiaca e della deglutizione e l'evitamento del valproato nella malattia da POLG.

Geni analizzati

Conosciuto anche come

progressive external ophthalmoplegia with mtDNA deletions

Include 13 sottotipi correlati ↓
  • autosomal dominant progressive external ophthalmoplegia
  • mitochondrial DNA deletion syndrome with progressive myopathy
  • progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
  • progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
  • progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
  • progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
  • progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
  • progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
  • progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
  • progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
  • progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
  • progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
  • progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6
MONDO:0000090

Spettro atassia-neuropatia

Disturbo correlato a POLG o TWNK che causa problemi di equilibrio e coordinazione, danni ai nervi sensitivi, problemi di movimento oculare e talvolta crisi convulsive.

Cosa cambia con una diagnosi

Conoscere questa condizione guida la gestione delle crisi convulsive, incluso l'evitamento del valproato.

Geni analizzati

Include 3 sottotipi correlati ↓
  • recessive mitochondrial ataxia syndrome
  • sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
  • spinocerebellar ataxia with epilepsy
MONDO:0016798Orphanet 254818MedGen 777176

Sindrome di Kearns-Sayre

Di solito causata da un'unica ampia delezione del DNA mitocondriale, che provoca debolezza dei movimenti oculari, alterazioni retiniche e problemi di conduzione cardiaca, tipicamente prima dei 20 anni.

Cosa cambia con una diagnosi

Conoscere questa condizione consente il monitoraggio del ritmo cardiaco e un tempestivo trattamento con pacemaker, che può prevenire la morte improvvisa.

Conosciuto anche come

CPEO with ragged red fibers; CPEO with ragged red fibres; KSS; ophthalmoplegia plus syndrome; ophthalmoplegia, progressive external, with ragged red fibers; ophthalmoplegia, progressive external, with ragged red fibres

MONDO:0010787OMIM 530000Orphanet 480MedGen 9618

Sindrome MELAS

Mitocondriale

Di solito causata da varianti nel DNA mitocondriale come m.3243A>G, che possono provocare episodi simil-ictus, crisi convulsive, debolezza muscolare, perdita dell'udito e diabete.

Cosa cambia con una diagnosi

Conoscere questa condizione guida lo screening per diabete, problemi uditivi e cardiaci e la gestione specialistica degli episodi simil-ictus.

Conosciuto anche come

MELAS; mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes; mitochondrial encephalomyopathy, lactic acidosis and stroke; mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Include 10 sottotipi correlati ↓
  • MELAS syndrome caused by mutation in MTND1
  • MELAS syndrome caused by mutation in MTND5
  • MELAS syndrome caused by mutation in MTND6
  • MELAS syndrome caused by mutation in MTTC
  • MELAS syndrome caused by mutation in MTTH
  • MELAS syndrome caused by mutation in MTTK
  • MELAS syndrome caused by mutation in MTTL1
  • MELAS syndrome caused by mutation in MTTQ
  • MELAS syndrome caused by mutation in MTTS1
  • MELAS syndrome caused by mutation in MTTS2
MONDO:0010789OMIM 540000Orphanet 550MedGen 56485

Sindrome MERRF

Mitocondriale

Di solito causata da varianti nel DNA mitocondriale come m.8344A>G, che possono provocare scosse muscolari (mioclono), crisi convulsive, problemi di equilibrio e debolezza muscolare.

Cosa cambia con una diagnosi

Conoscere questa condizione guida la scelta del trattamento delle crisi convulsive e il monitoraggio di cuore e udito.

Geni analizzati

Conosciuto anche come

Fukuhara syndrome; MERRF; myoclonic epilepsy - ragged red fibres; myoclonic epilepsy associated with ragged red fibers; myoclonic epilepsy associated with ragged red fibres; myoclonic epilepsy with ragged red fibers; myoclonic epilepsy with ragged red fibres; myoclonus epilepsy and ragged red fibres; myoclonus epilepsy associated with ragged-red fibers; myoclonus epilepsy associated with ragged-red fibres; myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome); myoclonus with epilepsy and with ragged Red fibres; myoclonus with epilepsy and with ragged Red fibres (MERRF syndrome); myoencephalopathy ragged-red fiber disease; myoencephalopathy ragged-red fibre disease

MONDO:0010790OMIM 545000Orphanet 551MedGen 56486

Deficit di Coenzima Q10

Autosomica recessiva

Causato da varianti in geni necessari alla produzione del coenzima Q10, come COQ2, COQ8A e PDSS2, che possono provocare malattie renali, problemi di equilibrio, debolezza muscolare o malattie cerebrali.

Cosa cambia con una diagnosi

Conoscere questa condizione ha un'applicazione diretta: il deficit primario di coenzima Q10 può rispondere a integratori ad alto dosaggio di coenzima Q10, soprattutto se iniziati precocemente.

Geni analizzati

Conosciuto anche come

coenzyme Q10 deficiency disease; coenzyme Q10 deficiency, primary; CoQ10 deficiency; CoQ10 deficiency, primary

Include 10 sottotipi correlati ↓
  • autosomal recessive ataxia due to ubiquinone deficiency
  • coenzyme Q10 deficiency, primary, 1
  • coenzyme Q10 deficiency, primary, 3
  • coenzyme q10 deficiency, primary, 9
  • deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
  • familial steroid-resistant nephrotic syndrome with sensorineural deafness
  • neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • neuronopathy, distal hereditary motor, autosomal recessive 9
  • primary coenzyme Q10 deficiency 8
MONDO:0018151Orphanet 35656MedGen 334528

Limitazioni

  • Le varianti del DNA mitocondriale sono spesso presenti solo in una frazione delle cellule (eteroplasmia), e livelli bassi nel sangue possono non essere rilevati anche quando altri tessuti, come il muscolo, sono coinvolti. Le copie nucleari del DNA mitocondriale (NUMT) possono generare segnali falsi, e le ampie delezioni del DNA mitocondriale richiedono analisi specialistiche e potrebbero non essere rilevate.

Altri conditions di metabolico

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