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Durum raporu · Metabolik

Mitokondriyal Hastalık

Hücrelerdeki enerji üreten yapılar olan mitokondrileri bozan, kalıtsal bir hastalık grubudur. POLG gibi nükleer genlerdeki ya da mitokondriyal DNA'daki varyantlardan kaynaklanır. Leigh sendromu ve kalıtsal optik nöropatiler kendi raporlarında ele alınmaktadır.

Durum raporu, kapsadığı durumlara neden olduğu bilinen nadir varyantları arar.

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Analiz ettiğimiz 9 durum

Mitokondriyal Solunum Zinciri Kompleks Eksikliği

Nükleer ya da mitokondriyal genlerdeki varyantlardan kaynaklanan, I, II, III, IV veya V. komplekslerin izole eksiklikleridir. Beyin, kaslar, kalp, karaciğer ve enerji gereksinimi yüksek diğer organları etkileyebilir.

Bir tanının neyi değiştirdiği

Bu durumu bilmek tanı arayışını sonlandırabilir ve etkilenen organların izlenmesine ve mitokondriler için toksik ilaçlardan kaçınılmasına yol gösterebilir.

Analiz edilen genler

Diğer adları

isolated oxidative phosphorylation complex disorder; mitochondrial complex deficiency

93 ilgili alt tip içerir ↓
  • 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

Kombine Oksidatif Fosforilasyon Eksikliği

Genellikle mitokondriyal protein üretiminde görev alan nükleer genlerden kaynaklanan, birden fazla solunum zinciri kompleksini aynı anda azaltan ve çocukluk çağında sıklıkla ağır çok sistemli hastalığa yol açan bozukluklardır.

Bir tanının neyi değiştirdiği

Bu durumu bilmek tanı arayışını sonlandırabilir ve izlem ile destekleyici bakıma yol gösterebilir.

Analiz edilen genler

70 ilgili alt tip içerir ↓
  • 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

Mitokondriyal DNA Azalma Sendromu

POLG, TWNK, TK2, DGUOK, MPV17, RRM2B ve SUCLA2 gibi nükleer genlerdeki varyantlardan kaynaklanır. Bu varyantlar mitokondriyal DNA miktarını azaltır ve kas, karaciğer ya da beyin hastalığına yol açabilir.

Bir tanının neyi değiştirdiği

Bu bilgi doğrudan eyleme dönüştürülebilir: POLG hastalığında ölümcül karaciğer yetmezliği riski nedeniyle valproattan kaçınılmalıdır. TK2 eksikliğinin ise nükleozid tedavisi bulunmaktadır.

Analiz edilen genler

Diğer adları

mtDNA depletion syndrome

32 ilgili alt tip içerir ↓
  • 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

Mitokondriyal DNA Delesyonlarıyla Ilerleyici Dışsal Oftalmopleji

POLG, TWNK, SLC25A4 ve RRM2B gibi nükleer genlerdeki varyantlardan kaynaklanır. Bu varyantlar birden fazla mitokondriyal DNA delesyonuna yol açarak genellikle erişkinlikte göz kapaklarında sarkma, göz hareketlerinde zayıflık ve kas güçsüzlüğüne neden olur.

Bir tanının neyi değiştirdiği

Bu bilgi göz, kalp ve yutma işlevinin izlenmesine ve POLG hastalığında valproattan kaçınılmasına yol gösterir.

Analiz edilen genler

Diğer adları

progressive external ophthalmoplegia with mtDNA deletions

13 ilgili alt tip içerir ↓
  • 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

Ataksi-Nöropati Spektrumu

POLG ya da TWNK ile ilişkili, denge ve koordinasyon sorunlarına, duyusal sinir hasarına, göz hareketi sorunlarına ve bazen nöbetlere yol açan bir bozukluktur.

Bir tanının neyi değiştirdiği

Bu bilgi nöbet yönetimine yol gösterir. Bunun içinde valproattan kaçınılması da yer alır.

Analiz edilen genler

3 ilgili alt tip içerir ↓
  • recessive mitochondrial ataxia syndrome
  • sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
  • spinocerebellar ataxia with epilepsy
MONDO:0016798Orphanet 254818MedGen 777176

Kearns-Sayre Sendromu

Genellikle mitokondriyal DNA'nın tek bir büyük delesyonundan kaynaklanır. 20 yaşından önce göz hareketlerinde zayıflık, retina değişiklikleri ve kalp iletim sorunlarına yol açar.

Bir tanının neyi değiştirdiği

Bu bilgi kalp ritminin izlenmesine ve ani ölümü önleyebilecek zamanında pacemaker tedavisine olanak tanır.

Diğer adları

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

MELAS Sendromu

Mitokondriyal

Genellikle m.3243A>G gibi mitokondriyal DNA varyantlarından kaynaklanır. İnme benzeri ataklara, nöbetlere, kas güçsüzlüğüne, işitme kaybına ve diyabete yol açabilir.

Bir tanının neyi değiştirdiği

Bu bilgi diyabet, işitme ve kalp sorunlarının taranmasına ve inme benzeri atakların uzman tarafından yönetilmesine yol gösterir.

Diğer adları

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

10 ilgili alt tip içerir ↓
  • 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

MERRF Sendromu

Mitokondriyal

Genellikle m.8344A>G gibi mitokondriyal DNA varyantlarından kaynaklanır. Kas seğirmelerine (miyoklonus), nöbetlere, denge sorunlarına ve kas güçsüzlüğüne yol açabilir.

Bir tanının neyi değiştirdiği

Bu bilgi nöbet tedavisi seçimine ve kalp ile işitmenin izlenmesine yol gösterir.

Analiz edilen genler

Diğer adları

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

Koenzim Q10 Eksikliği

Otozomal resesif

Koenzim Q10 üretimi için gerekli olan COQ2, COQ8A ve PDSS2 gibi genlerdeki varyantlardan kaynaklanır. Böbrek hastalığına, denge sorunlarına, kas güçsüzlüğüne ya da beyin hastalığına yol açabilir.

Bir tanının neyi değiştirdiği

Bu bilgi eyleme dönüştürülebilir niteliktedir: birincil koenzim Q10 eksikliği, özellikle erken başlandığında yüksek doz koenzim Q10 takviyelerine yanıt verebilir.

Analiz edilen genler

Diğer adları

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

10 ilgili alt tip içerir ↓
  • 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

Sınırlamalar

  • Mitokondriyal DNA varyantları çoğu zaman hücrelerin yalnızca bir kısmında bulunur (heteroplazmi). Kanda düşük düzeyler, kas gibi diğer dokular etkilenmiş olsa bile gözden kaçabilir. Mitokondriyal DNA'nın nükleer kopyaları (NUMT'lar) yanlış sinyallere neden olabilir. Büyük mitokondriyal DNA delesyonlarının analizi uzmanlık gerektirir ve tespit edilemeyebilir.

Diğer metabolik conditions

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