MITOMAP Disease Listing / Allele Classification with links to OMIM

AD: Alzheimer's Disease
ADPD: Alzheimer's Disease and Parkinsons's Disease
AMDF: Ataxia, Myoclonus and Deafness
AMD: Age-Related Macular Degeneration
AMegL: Acute Megakaryoblastic Leukemia
CIPO: Chronic Intestinal Pseudoobstruction with myopathy and Ophthalmoplegia
CPEO: Chronic Progressive External Ophthalmoplegia
DEAF: Maternally inherited DEAFness or aminoglycoside-induced DEAFness
DEMCHO: Dementia and Chorea
DMDF: Diabetes Mellitus & DeaFness?
ESOC: Epilepsy, Strokes, Optic atrophy, & Cognitive decline
EXIT: Exercise Intolerance
FBSN: Familial Bilateral Striatal Necrosis
FICP: Fatal Infantile Cardiomyopathy Plus, a MELAS-associated cardiomyopathy
FSGS: Focal Segmental Glomerulosclerosis
GER: Gastrointestinal Reflux
KSS: Kearns Sayre Syndrome
LD: Leigh Disease (or LS: Leigh Syndrome)
LDYT: Leber's hereditary optic neuropathy and DYsTonia?
LHON: Leber Hereditary Optic Neuropathy
LIMM: Lethal Infantile Mitochondrial Myopathy
Longevity: Long life
LVNC: Left Ventricular Noncompaction
MDM: Myopathy and Diabetes Mellitus
MELAS: Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes
MEPR: Myoclonic Epilepsy and Psychomotor Regression
MERME: MERRF/MELAS overlap disease
MERRF: Myoclonic Epilepsy and Ragged Red Muscle Fibers
MHCM: Maternally Inherited Hypertrophic CardioMyopathy?
MI: Myocardial Infarction
MICM: Maternally Inherited Cardiomyopathy
MIDD: Maternally Inherited Diabetes and Deafness
MILS: Maternally Inherited Leigh Syndrome
MEc: Mitochondrial Encephalocardiomyopathy
MEm: Mitochondrial Encephalomyopathy
MM: Mitochondrial Myopathy
MMC: Maternal Myopathy and Cardiomyopathy
Multisystem Mitochondrial Disorder (myopathy, encephalopathy, blindness, hearing loss, peripheral neuropathy)
NAION: Nonarteritic Anterior Ischemic Optic Neuropathy
NARP : Neurogenic muscle weakness, Ataxia, and Retinitis Pigmentosa; alternate phenotype at this locus is reported as Leigh Disease
NIDDM: Non-Insulin Dependent Diabetes Mellitus
NRTI-PN: Antiretroviral Therapy-Associated Peripheral Neuropathy
OAT: Oligoasthenoteratozoospermia
PEG: Pseudoexfoliation Glaucoma
PEM: Progressive Encephalopathy
PME: Progressive Myoclonus Epilepsy
POAG: Primary Open Angle Glaucoma
RTT: Rett Syndrome
SIDS: Sudden Infant Death Syndrome
SNHL: Sensorineural Hearing Loss
Varied Familial Presentation: clinical manifestations range from spastic paraparesis to multisystem progressive disorder & fatal cardiomyopathy to truncal ataxia, dysarthria, severe hearing loss, mental regression, ptosis, ophthalmoparesis, distal cyclones, & diabetes mellitus

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Topic revision: r3 - 11 Mar 2010 - 18:51:34 - MarieLott
 
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