본문으로 건너뛰기
HSA 또는 FSA 자금을 사용해 보세요

질환 보고서 · 대사

미토콘드리아 질환

세포 내에서 에너지를 만드는 구조인 미토콘드리아가 제대로 기능하지 못하게 하는 유전성 질환군으로, POLG와 같은 핵 유전자 또는 미토콘드리아 DNA의 변이에 의해 발생합니다. 레이 증후군(Leigh syndrome)과 유전성 시신경병증은 각각 별도의 보고서에서 다룹니다.

질환 보고서는 해당 보고서가 다루는 질환을 일으키는 것으로 알려진 희귀 변이를 찾습니다.

Premium 및 Premium + AI에 포함

Premium을 추가하면 첫 해 동안 키트당 $99가 추가됩니다.

Premium과 함께 주문

분석하는 9개 질환

미토콘드리아 호흡사슬 복합체 결핍증

핵 또는 미토콘드리아 유전자의 변이로 인해 복합체 I, II, III, IV 또는 V가 단독으로 결핍되는 질환으로, 뇌, 근육, 심장, 간 등 에너지를 많이 요구하는 장기에 영향을 줄 수 있습니다.

진단이 달라지는 점

이 결과를 알면 진단을 위한 검사를 마무리할 수 있고, 영향을 받은 장기에 대한 추적 관찰과 미토콘드리아에 독성을 나타내는 약물의 회피를 안내받을 수 있습니다.

분석 유전자

다른 명칭

isolated oxidative phosphorylation complex disorder; mitochondrial complex deficiency

관련 하위 유형 93개 포함 ↓
  • 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

복합 산화적 인산화 결핍증

주로 미토콘드리아 단백질 생성에 관여하는 핵 유전자의 이상으로 발생하며, 여러 호흡사슬 복합체가 동시에 감소하여 소아기에 종종 심각한 다장기 질환을 일으키는 질환군입니다.

진단이 달라지는 점

이 결과를 알면 진단을 위한 검사를 마무리할 수 있고, 추적 관찰과 지지 치료를 안내받을 수 있습니다.

분석 유전자

관련 하위 유형 70개 포함 ↓
  • 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

미토콘드리아 DNA 고갈 증후군

POLG, TWNK, TK2, DGUOK, MPV17, RRM2B, SUCLA2와 같은 핵 유전자의 변이로 발생하며, 미토콘드리아 DNA의 양을 감소시켜 근육, 간 또는 뇌 질환을 일으킬 수 있습니다.

진단이 달라지는 점

이 결과는 바로 실천으로 이어질 수 있습니다. POLG 질환에서는 치명적인 간부전의 위험 때문에 발프로산(valproate)을 반드시 피해야 하며, TK2 결핍증에는 뉴클레오사이드 치료법이 있습니다.

분석 유전자

다른 명칭

mtDNA depletion syndrome

관련 하위 유형 32개 포함 ↓
  • 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

미토콘드리아 DNA 결실을 동반한 진행성 외안근마비

POLG, TWNK, SLC25A4, RRM2B와 같은 핵 유전자의 변이로 여러 개의 미토콘드리아 DNA 결실이 생겨 발생하며, 주로 성인기에 눈꺼풀 처짐, 안구 운동 약화, 근력 저하를 일으킵니다.

진단이 달라지는 점

이 결과를 알면 눈, 심장 및 삼킴 기능에 대한 모니터링과 POLG 질환에서 발프로산 회피에 대한 안내를 받을 수 있습니다.

분석 유전자

다른 명칭

progressive external ophthalmoplegia with mtDNA deletions

관련 하위 유형 13개 포함 ↓
  • 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

운동실조 신경병증 스펙트럼

POLG 또는 TWNK와 관련된 질환으로, 균형과 협응 장애, 감각 신경 손상, 안구 운동 문제가 나타나며 때때로 발작이 동반될 수 있습니다.

진단이 달라지는 점

이 결과를 알면 발프로산 회피를 포함한 발작 관리에 대한 안내를 받을 수 있습니다.

분석 유전자

관련 하위 유형 3개 포함 ↓
  • recessive mitochondrial ataxia syndrome
  • sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
  • spinocerebellar ataxia with epilepsy
MONDO:0016798Orphanet 254818MedGen 777176

카온스-세이어 증후군(Kearns-Sayre syndrome)

대개 미토콘드리아 DNA의 단일 대형 결실로 인해 발생하며, 안구 운동 약화, 망막 변화, 심전도 전도 장애를 일으키고 보통 20세 이전에 나타납니다.

진단이 달라지는 점

이 결과를 알면 심장 리듬을 모니터링하고 적시에 심박조율기 치료를 받을 수 있어 돌연사를 예방할 수 있습니다.

다른 명칭

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 증후군

미토콘드리아

대개 m.3243A>G와 같은 미토콘드리아 DNA의 변이로 발생하며, 뇌졸중 유사 발작, 발작, 근력 저하, 청력 손실, 당뇨병을 일으킬 수 있습니다.

진단이 달라지는 점

이 결과를 알면 당뇨병, 청력 및 심장 문제에 대한 선별 검사와 뇌졸중 유사 발작에 대한 전문의 관리를 안내받을 수 있습니다.

다른 명칭

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

관련 하위 유형 10개 포함 ↓
  • 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 증후군

미토콘드리아

대개 m.8344A>G와 같은 미토콘드리아 DNA의 변이로 발생하며, 근육 경련(근간대경련), 발작, 균형 장애, 근력 저하를 일으킬 수 있습니다.

진단이 달라지는 점

이 결과를 알면 발작 치료 방법의 선택과 심장 및 청력에 대한 모니터링을 안내받을 수 있습니다.

분석 유전자

다른 명칭

Fukuhara syndrome; 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

코엔자임 Q10 결핍증

상염색체 열성

COQ2, COQ8A, PDSS2와 같이 코엔자임 Q10 생성에 필요한 유전자의 변이로 발생하며, 신장 질환, 균형 장애, 근력 저하 또는 뇌 질환을 일으킬 수 있습니다.

진단이 달라지는 점

이 결과는 실천으로 이어질 수 있습니다. 원발성 코엔자임 Q10 결핍증은 특히 조기에 시작할 경우 고용량 코엔자임 Q10 보충제에 반응할 수 있습니다.

분석 유전자

다른 명칭

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

관련 하위 유형 10개 포함 ↓
  • 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

한계점

  • 미토콘드리아 DNA 변이는 흔히 일부 세포에만 존재하며(이형접합성), 근육과 같은 다른 조직이 영향을 받더라도 혈액에서는 낮은 수준이 검출되지 않을 수 있습니다. 미토콘드리아 DNA와 유사한 핵 내 서열(NUMT)은 거짓 신호를 일으킬 수 있으며, 대규모 미토콘드리아 DNA 결실은 특수한 분석이 필요하고 검출되지 않을 수도 있습니다.

다른 대사 conditions

모든 조건 →

검사 한 번으로, 평생의 답을.

키트를 집으로 보내드립니다. 진단 결정에 사용되는 임상 표준으로 전장 유전체를 분석합니다. 의료진이 바로 활용할 수 있는 보고서를 6~8주 안에 Genome Manager로 전달하며, 보고서는 영구적으로 보관되고 과학이 발전함에 따라 업데이트됩니다.

$449부터

배송비 무료 · 결과는 6~8주 내 제공

Premium을 추가하면 첫 해 동안 키트당 $99가 추가됩니다.

Premium과 함께 주문