Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia (EAOH)

Alias:

Aoa1

Ataxia-Telangiectasia-Like Disorder

Ataxia with Oculomotor Apraxia Type 1

Eoca-Ha

Eaoh

Ataxia-Oculomotor Apraxia Syndrome

Ataxia-Oculomotor Apraxia Type 1

Ataxia with Oculomotor Apraxia

Ataxia-Oculomotor Apraxia 1

Aoa

Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia

Ataxia Early-Onset with Oculomotor Apraxia and Hypoalbuminemia

Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1

Cerebellar Ataxia, Early-Onset, with Hypoalbuminemia

Spinocerebellar Ataxia with Axonal Neuropathy Type 2

Cerebellar Ataxia Early-Onset with Hypoalbuminemia

Spinocerebellar Ataxia, Autosomal Recessive 1

Adult Onset Ataxia with Oculomotor Apraxia

Ataxia-Telangiectasia-Like Syndrome

Ataxia Oculomotor Apraxia Type 1

Ataxia-Oculomotor Apraxia

Scan2

Scar1

Atld

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia, also known as aoa1, is related to ataxia-oculomotor apraxia 3 and amyotrophic lateral sclerosis 4, juvenile, and has symptoms including cerebellar ataxia, tremor and muscle weakness. An important gene associated with Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia is APTX (Aprataxin), and among its related pathways/superpathways are Packaging Of Telomere Ends and Homology Directed Repair. The drugs Ethanol and Lecithin have been mentioned in the context of this disorder. Affiliated tissues include eye and skin, and related phenotypes are ataxia and gait disturbance

Related ID：

MALACARDS：ATX029

OMIM：208920

MESH：D001072