Anemia, Sideroblastic, and Spinocerebellar Ataxia (ASAT)

Alias:
X-Linked Sideroblastic Anemia with Ataxia
Anemia, Sideroblastic, Spinocerebellar Ataxia
X-Linked Sideroblastic Anemia and Ataxia
Anemia, Sideroblastic, with Ataxia
Asat
Anemia Sideroblastic, and Spinocerebellar Ataxia
Anemia Sideroblastic and Spinocerebellar Ataxia
Anemia Sideroblastic Spinocerebellar Ataxia
X-Linked Sideroblastic Anaemia with Ataxia
X-Linked Sideroblastic Anaemia and Ataxia
Sideroblastic Anemia and Ataxia
Pagon Bird Detter Syndrome
Xlsa/a
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Basic Information
Medical Symptom
Gene & Mutation
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Disease Model
References Literature
Anemia, Sideroblastic, and Spinocerebellar Ataxia, also known as x-linked sideroblastic anemia with ataxia, is related to aceruloplasminemia and sideroblastic anemia, and has symptoms including clonus, action tremor and dysdiadochokinesis. An important gene associated with Anemia, Sideroblastic, and Spinocerebellar Ataxia is ABCB7 (ATP Binding Cassette Subfamily B Member 7), and among its related pathways/superpathways are Metabolism and Mitochondrial iron-sulfur cluster biogenesis. Affiliated tissues include bone marrow and eye, and related phenotypes are hyperreflexia and clonus
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Infant
--
17
79
6

Medical Symptom

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Gene & Mutation

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References Literature

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