Panel 4: Enfermedades mitocondriales

PANEL NMG4
DEFECTOS DE LA CADENA RESPIRATORIA MITOCONDRIAL ASOCIADOS A GENES NUCLEARES
GENES QUE
ACAD9
C20ORF7
C8ORF38
FOXRED1
NDUFA1
NDUFA2
NDUFA3
NDUFA4
NDUFA4L2
NDUFA5
NDUFA9
NDUFA10
NDUFA11
RS2
NDUFA13
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFB1
NDUFB3
NDUFB2
NDUFB4
NDUFB5
NDUFB6
NDUFB7
NDUFB8
NDUFB9
NDUFB10
NDUFB11
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS5
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NDUFV3
NUBPL
GENES QUE
SDHA
SDHB
SDHC
SDHD
SDHAF1
SDHAF2
GENES QUE
BCS1L
UQCRQ
UQCRB
UQCR10
UQCR11
UQCRC1
UQCRC2
UQCRFS1
UQCRH
UQCRHL
TTC19
GENES QUE
COX10
COX11
CODIFICAN PARA EL COMPLEJO I MITOCONDRIAL
ACAD9 DEFICIENCY
MITOCHONDRIAL COMPLEX 1 DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
NAP
NAP
NAP
NAP
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME
MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY
{THYROID CARCINOMA, HURTHLE CELL}
MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
NAP
MITOCHONDRIAL COMPLEX I DEFICIENCY
NAP
NAP
NAP
NAP
NAP
NAP
?MITOCHONDRIAL COMPLEX I DEFICIENCY
NAP
NAP
MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
NAP
COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
LEIGH SYNDROME
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
NAP
MITOCHONDRIAL COMPLEX I DEFICIENCY
CODIFICAN PARA EL COMPLEJO II
CARDIOMYOPATHY, DILATED, 1GG
COWDEN SYNDROME 2
GASTROINTESTINAL STROMAL TUMOR
CARCINOID TUMORS, INTESTINAL
MITOCHONDRIAL COMPLEX II DEFICIENCY
PARAGANGLIOMAS 2
CODIFICAN PARA EL COMPLEJO III
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3
NAP
NAP
NAP
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5
NAP
NAP
NAP
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
CODIFICAN PARA EL COMPLEJO IV
ENCEPHALOPATHY, PROGRESSIVE MITOCHONDRIAL, WITH PROXIMAL RENAL TUBULOPATHY DUE TO CYTOCHROME C
OXIDASE
DEFICIENCY
NAP
COX15
COX16
COX17
COX18
COX19
COX6A1
COX6A2
COX6B1
COX6B2
SCO1
SCO2
SURF1
TACO1
C2ORF64
C12ORF62
FASTKD2
COX6B1
LRPPRC
COX4I1
COX4I2
COX4NB
CYCS
GENES QUE
ATPAF1
ATPAF2
TMEM70
ATP5E
ATP5D
ATP5B
ATP5A1
ATP5C1
ATP5O
ATP5F1
ATP5G1
ATP5G2
ATP5G3
LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY
NAP
NAP
NAP
NAP
NAP
NAP
CYTOCHROME C OXIDASE DEFICIENCY
NAP
HEPATIC FAILURE, EARLY ONSET, AND NEUROLOGIC DISORDER
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1
LEIGH SYNDROME, DUE TO COX DEFICIENCY
MITOCHONDRIAL COMPLEX IV DEFICIENCY
MITOCHONDRIAL COMPLEX IV DEFICIENCY
MITOCHONDRIAL COMPLEX IV DEFICIENCY
MITOCHONDRIAL COMPLEX IV DEFICIENCY
CYTOCHROME C OXIDASE DEFICIENCY
LEIGH SYNDROME, FRENCH-CANADIAN TYPE
NAP
EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS
NAP
THROMBOCYTOPENIA 4
CODIFICAN PARA EL COMPLEJO V
NAP
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
NAP
NAP
?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4
NAP
NAP
NAP
NAP
NAP
NAP
GENES QUE CODIFICAN PARA LA PIRUVATO DESHIDROGENASA
DLD
PDHA1
DLAT
PDHX
PDHB
PDHA2
PDP1
PDP2
LIAS
DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY
PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
PYRUVATE DEHYDROGENASE E2 DEFICIENCY
LACTICACIDEMIA DUE TO PDX1 DEFICIENCY
PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY
NAP
PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY
NAP
PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY
GENES ASOCIADOS A DEFICIENCIAS PRIMARIAS DE COENZYMA Q10
COQ2
COQ3
COQ4
COQ5
PDSS2
PDSS1
CABC1
COQ9
COQ10A
COQ10B
COQ7
COQ6
COQ4
COQ10D1 (COENZYME Q10 DEFICIENCY, PRIMARY, 1)
NAP
NAP
NAP
COQ10D3
COQ10D2
COQ10D4
COQ10D5
NAP
NAP
NAP
COQ10D6
COQ10DX
GENES ASOCIADOS A DEPLECIÓN DE ADN MITOCONDRIAL
TYMP
TK2
DGUOK
POLG
SUCLA2
MPV17
MTDPS1 (MITOCHONDRIAL DNA DEPLETION SYNDROME-1)
MTDPS2
MTDPS3
MTDPS4A MTDPS4B
MTDPS5
MTDPS6
C10ORF2
RRM2B
SUCLG1
AGK
POLG2
SLC25A4
FBXL4
MGME1
MTDPS7
MTDPS8A MTDPS8B
MTDPS9
MTDPS10
PEOA4 (PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT
4)
MTDPS12
MTDPS13
MTDPS11
GENES ASOCIADOS A DEFICIENCIA COMBINADA DE FOSFORILACIÓN OXIDATIVA
GFM1
MRPS16
TSFM
TUFM
MRPS22
AIFM1
C12ORF65
AARS2
GFER
FARS2
MRPL3
MRPL44
ELAC2
MTFMT
PNPT1
EARS2
RMND1
MTO1
LYRM4
CRIF1
OTROS
COXPD1
COXPD2
COXPD3
COXPD4
COXPD5
COXPD6
COXPD7
COXPD8
COXPDX
COXPD14
COXPD9
COXPD16
COXPD17
COXPD15
COXPD13
COXPD12
COXPD11
COXPD10
COXPDX
COXPDY
ISCU
YARS2
TAZ
PUS1
SLC25A3
DNA2
LETM1
DNM1L
NFU1
BOLA3
IBA57
ADCK1
ADCK2
ADCK4
ADCK5
MIOPATIA MITOCONDRIAL
MIOPATIA MITOCONDRIAL
MIOPATIA MITOCONDRIAL
MIOPATIA MITOCONDRIAL
MIOPATIA MITOCONDRIAL: MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY
ADULT-ONSET INDIVIDUALS WITH A FORM OF MITOCHONDRIAL MYOPATHY FEATURING INSTABILITY OF MUSCLE
MTDNA
CRUCIAL
FOR THE MAINTENANCE OF MITOCHONDRIAL TUBULAR NETWORKS AND FOR THE ASSEMBLY OF THE
SUPERCOMPLEXES
OF THE RESPIRATORY
CHAIN.FISSION
REQUIRED FOR THE MAINTENANCE OF THE TUBULAR SHAPE AND
DEFECTIVE MITOCHONDRIAL
AND PEROXISOMAL
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
NAP
NAP
NAP
NAP
OTRAS CONDICIONES QUE PUEDEN SOLAPARSE CON UNA DEFICIENCIA DE OXPHOS
UPB1
NAT8L
DARS2
ADSL
DPYD
DPYS
TPK1
RPIA
SERAC1
SLC19A3
GATM
GAMT
SLC6A8
DEFICIENCIA DE BETA-UREIDOPROPIONASA
DEFICIENCIA DE N-ACETILASPARTATO
LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION
ADENYLOSUCCINASE DEFICIENCY
DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY
DIHYDROPYRIMIDINURIA
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)
RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME
THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE ENCEPHALOPATHY TYPE 2)
CEREBRAL CREATINE DEFICIENCY SYNDROME 3
CEREBRAL CREATINE DEFICIENCY SYNDROME 2
CEREBRAL CREATINE DEFICIENCY SYNDROME
Nuevos genes asociados a defectos en la función mitocondrial
MRPL3
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.
MRPL44
A. Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to
underlie mitochondrial infantile cardiomyopathy.
ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic
cardiomyopathy
Mutations
in MTFMT underlie a human disorder of formylation causing impaired mitochondrial
translation.
Mutation
in PNPT1 impairs RNA import into mitochondria and causes respiratory-chain deficiency
ELAC2
MTFMT
PNPT1
EARS2
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by
EARS2 mutations.
RMND1
Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous
RMND1 mutation
MTO1
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic
acidosis.
MICU1
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary
alterations in mitochondrial calcium signaling
PET100
A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with
Leigh Syndrome
OPA1
VARS2
Regulate mitochondrial fusion
TARS2
ETHE1
VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies
Encephalopathy, ethylmalonic
TRMU
GARS
FLAD1
Use of WES to determine the genetic basis of multiple mitochondrial respiratory chain complex
deficiencies
PTCD1
CHCHD10
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through
CHCHD10 involvement
SPG7
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered
mitochondrial DNA maintenance.