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Online Mendelian Inheritance in Man
| Preferred Name | EPISODIC ATAXIA, TYPE 2 | |
| Synonyms |
ATAXIA, FAMILIAL PAROXYSMAL CEREBELLOPATHY, HEREDITARY PAROXYSMAL ATAXIA, EPISODIC, WITH NYSTAGMUS EPISODIC ATAXIA, NYSTAGMUS-ASSOCIATED APCA EA2 CAPA ACETAZOLAMIDE-RESPONSIVE HEREDITARY PAROXYSMAL CEREBELLAR ATAXIA CEREBELLAR ATAXIA, PAROXYSMAL, ACETAZOLAMIDE-RESPONSIVE |
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| ID |
http://purl.bioontology.org/ontology/OMIM/108500 |
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| altLabel |
ATAXIA, FAMILIAL PAROXYSMAL CEREBELLOPATHY, HEREDITARY PAROXYSMAL ATAXIA, EPISODIC, WITH NYSTAGMUS EPISODIC ATAXIA, NYSTAGMUS-ASSOCIATED APCA EA2 CAPA ACETAZOLAMIDE-RESPONSIVE HEREDITARY PAROXYSMAL CEREBELLAR ATAXIA CEREBELLAR ATAXIA, PAROXYSMAL, ACETAZOLAMIDE-RESPONSIVE
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|
| cui |
C1720416
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|
| Gene Locus |
19p13
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|
| Gene Symbol |
SCA6 DEE42 CACNL1A4 CACNA1A
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| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU019403 http://purl.bioontology.org/ontology/OMIM/MTHU019402 http://purl.bioontology.org/ontology/OMIM/MTHU001035 http://purl.bioontology.org/ontology/OMIM/MTHU019404 http://purl.bioontology.org/ontology/OMIM/MTHU019400 http://purl.bioontology.org/ontology/OMIM/MTHU003968 http://purl.bioontology.org/ontology/OMIM/MTHU005827 http://purl.bioontology.org/ontology/OMIM/MTHU036428 http://purl.bioontology.org/ontology/OMIM/MTHU000933 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU019401 http://purl.bioontology.org/ontology/OMIM/MTHU004069 http://purl.bioontology.org/ontology/OMIM/MTHU019397 http://purl.bioontology.org/ontology/OMIM/MTHU000096 http://purl.bioontology.org/ontology/OMIM/MTHU019405 http://purl.bioontology.org/ontology/OMIM/MTHU019408 http://purl.bioontology.org/ontology/OMIM/MTHU019407 http://purl.bioontology.org/ontology/OMIM/MTHU003966 |
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| MIMTYPEMEANING |
Phenotype description, molecular basis known.
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|
| notation |
108500
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|
| OMIM Entry Type |
3
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|
| OMIM MimType Value |
pound
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|
| prefLabel |
EPISODIC ATAXIA, TYPE 2
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| Scope Statement |
Favorable response of episodic attacks to acetazolamide [MISCELLANEOUS] Caused by mutation in the calcium channel, voltage-dependent, P/Q type, alpha 1A subunit gene (CACNA1A, 601011.0005) [MOLECULAR BASIS] Episodes last from several hours to days [MISCELLANEOUS] Phenotypic overlap with FHM1 (141500) and SCA6 (183086) [MISCELLANEOUS] Onset usually in childhood or adolescence [MISCELLANEOUS] Onset may occur in adulthood [MISCELLANEOUS] Incomplete penetrance [MISCELLANEOUS] Symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes [MISCELLANEOUS] Frequency of episodes ranges from several per week to several per year [MISCELLANEOUS] Progressive ataxia [MISCELLANEOUS] Most common episodic ataxia syndrome [MISCELLANEOUS]
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| tui |
T047
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| Delete | Subject | Author | Type | Created |
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| No notes to display |