Neuromuscular HOMEepAGE

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ATP Disorders

MitochondrialAutosomal DominantDe NovoAutosomal RecessiveIon Channels / MembraneOMIM 271930

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Overview

From WUSTL Neuromuscular

ATPase Mitochondrial ATPase 6 syndromes (F-Type) Leber's hereditary optic atrophy Leigh's syndrome NARP Familial bilateral striatal necrosis AAA ATPase (ATPases Associated with diverse cellular Activities) family syndromes Familial spastic paraplegias SPG7: Paraplegin; Mitochondrial SPG4: Spastin; Nuclear ATPase Optic atrophy syndromes Developmental delay, Optic atrophy, Polyneuropathy: ATAD3A Psychomotor delay, Optic atrophy, Ataxia: YME1L1 Encephalopathy, Cataracts, Neutropenia: CLPB HIBM with Paget's & Dementia Valosin-containing protein (VCP): Has 2 AAA domains SCA 28: AFG3L2 AMC5 & Torsio

OMIM Entries

OMIM #271930 OMIM #128100 OMIM #605204 OMIM #266510 OMIM #214100 OMIM #602136 OMIM #605295 OMIM #182310 OMIM #182340 OMIM #602481 OMIM #104290 OMIM #182350 OMIM #128235 OMIM #614820 OMIM #619606 OMIM #601814 OMIM #154020 OMIM #108740 OMIM #124200 OMIM #101900 OMIM #108733 OMIM #619804 OMIM #601386 OMIM #300014 OMIM #604384 OMIM #169600 OMIM #192132 OMIM #267300 OMIM #605239 OMIM #602722 OMIM #192130 OMIM #619971 OMIM #277900 OMIM #300011 OMIM #304150 OMIM #609126 OMIM #620242 OMIM #605855 OMIM #105830 OMIM #605868 OMIM #619851 OMIM #619810 OMIM #604592 OMIM #259700 OMIM #173335 OMIM #103220 OMIM #192600 OMIM #139080 OMIM #600046 OMIM #600047 OMIM #618808 OMIM #104300 OMIM #601615 OMIM #267450 OMIM #601691 OMIM #248200 OMIM #153800 OMIM #601718 OMIM #604116 OMIM #605414 OMIM #607800 OMIM #601277 OMIM #242500 OMIM #171050 OMIM #612244 OMIM #620950 OMIM #170260 OMIM #170261 OMIM #604571 OMIM #171060 OMIM #611785 OMIM #605452 OMIM #120200 OMIM #300135 OMIM #301310 OMIM #605464 OMIM #605453 OMIM #605454 OMIM #603201 OMIM #601847 OMIM #601107 OMIM #603234 OMIM #177850 OMIM #264800 OMIM #614473 OMIM #602421 OMIM #219700 OMIM #277180 OMIM #181000 OMIM #600509 OMIM #256450 OMIM #618857 OMIM #125853 OMIM #610374 OMIM #240800 OMIM #601439 OMIM #607040 OMIM #117800 OMIM #300371 OMIM #300100 OMIM #601081 OMIM #170995 OMIM #603214 OMIM #614857 OMIM #605459 OMIM #210250 OMIM #605460 OMIM #602566

Related Conditions

Shared genes

ATPASESATPASEFAMILY

Inclusion Body Myopathy with Paget disease of Bone & Dementia 1 (IBMPFD1)

Myotonic Dystrophy 1 (DM1)

POTASSIUM CHANNELS

ATPASEPLASMOLIPIN

Rhabdomyolysis, Recurrent (RHABDO2)

External Resources

WUSTL Neuromuscular

Washington University Disease Center

Online Mendelian Inheritance in Man

Biomedical Literature

NCBI Expert-Authored Reviews

Portal for Rare Diseases

National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.