Leber Optic Atrophy And Dystonia

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Leber Optic Atrophy And Dystonia

MT-ND1
MT-ND4
MT-ND3
MT-ND6

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Leber Optic Atrophy And Dystonia

Intellectual disability
Global developmental delay
Short stature
Scoliosis
Strabismus
Spasticity
Peripheral neuropathy
Hyperreflexia
Dysarthria
Skeletal muscle atrophy

And another 27 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Leber Optic Atrophy And Dystonia Is also known as leber hereditary optic neuropathy with dystonia, ldyt, dystonia, familial, with visual failure and striatal lucencies, marsden syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Leber Optic Atrophy And Dystonia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
LHON mtDNA Evaluation. By Athena Diagnostics Inc (United States). MT-ND1, MT-ND4, MT-ND6 Specificity 100 % Genes 75 %
Leber Hereditary Optic Neuropathy. By Center for Human Genetics, Inc (United States). MT-ND1, MT-ND4 Specificity 100 % Genes 50 %
Mitochondrial diseases. By Center for Human Genetics, Inc (United States). MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2 Specificity 34 % Genes 100 %
Comprehensive Mitochondrial Metabolic Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A , (...) View the complete list with 173 more genes Panel complete gene list BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A, TK2, TSFM, TUFM, UQCRB, LPIN1, GFM1, MRPS16, SLC25A20, SLC25A19, MRPS22, PUS1, LRPPRC, NDUFAF5, COX4I2, COQ8A, TFB1M, LARS2, NDUFA13, RRM2B, SARS2, PDSS1, NAGS, ATPAF2, NDUFAF1, MMAA, MMAB, NUBPL, NDUFA11, AARS2, NDUFAF4, FARS2, PDHX, RARS2, ACAD9, COX10, COX15, COX4I1, COX6B1, COX7A1, LMBRD1, PDSS2, CPT1A, ETHE1, CPT1B, CPT2, YARS2, TACO1, MMACHC, MARS2, MMADHC, COQ2, COQ9, TRMU, DARS2, TTC19, SDHAF2, TMEM70, NARS2, C12orf65, FOXRED1, NDUFAF2, DGUOK, DLAT, DLD, FASTKD2, UQCRQ, MTFMT, ISCU, NDUFAF3, TYMP, AGL, SDHAF1, ETFA, ETFB, ETFDH, G6PC, SLC37A4, GAA, GBE1, GYS1, GYS2, HADHA, HADHB, HLCS, IVD, KARS, ARG1, MCCC1, MCCC2, MPI, MPV17, MRRF, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MTRR, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MMUT, NDUFA1, NDUFA10, NDUFA2, NDUFA7, NDUFA8, NDUFB6, NDUFS1, NDUFS2, NDUFS3, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV3, OPA1, OPA3, ATP5F1E, ACACA, ACACB, OTC, PC, PCCA, PCCB, ACADL, PDHA1, PDHB, PFKM, PGAM2, ACADM, AUH, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PMM2, POLG, POLG2, ACADVL, PDP1, ACAT1, PYGL, PYGM Specificity 3 % Genes 100 %
MT-ND1. By Institute for Human Genetics University Clinic Freiburg (Germany). MT-ND1 Specificity 100 % Genes 25 %
Mitochondrial Genome Sequence. By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina). MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH , (...) View the complete list with 15 more genes Panel complete gene list MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY Specificity 12 % Genes 100 %
Comprehensive Cardiomyopathy Panel. By GeneDx (United States). RYR2, SCN5A, SGCD, BRAF, SOS1, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, MYOZ2, JPH2, ACTC1, CAV3, LDB3 , (...) View the complete list with 56 more genes Panel complete gene list RYR2, SCN5A, SGCD, BRAF, SOS1, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, MYOZ2, JPH2, ACTC1, CAV3, LDB3, ANKRD1, MYLK2, ACTN2, NEBL, PDLIM3, MYPN, CRYAB, CSRP3, RBM20, DES, TMEM43, DMD, NEXN, GATAD1, DSC2, DSG2, DSP, DTNA, EMD, FKTN, GLA, HRAS, ABCC9, ILK, JUP, KRAS, LAMA4, LAMP2, LMNA, MAP2K1, MAP2K2, MT-ND1, MT-ND5, MT-ND6, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TQ, MT-TS1, MT-TS2, MYBPC3, MYH7, MYL2, MYL3, NRAS, PKP2, PLN, PRKAG2, BAG3, PTPN11, RAF1 Specificity 3 % Genes 50 %
DCM/LVNC Sequencing Panel. By GeneDx (United States). SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, ACTC1, LDB3, ANKRD1, ACTN2, CSRP3, RBM20, DES, NEXN, EMD , (...) View the complete list with 17 more genes Panel complete gene list SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, ACTC1, LDB3, ANKRD1, ACTN2, CSRP3, RBM20, DES, NEXN, EMD, LAMP2, LMNA, MT-ND1, MT-ND5, MT-ND6, MT-TD, MT-TH, MT-TI, MT-TK, MT-TL2, MT-TM, MT-TQ, MT-TS1, MT-TS2, MYBPC3, MYH7, PLN Specificity 6 % Genes 50 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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