Neuropathy, Hereditary Sensory and Autonomic, Type Ia (HSAN1A)

Neuropathy, Hereditary Sensory and Autonomic, Type Ia(来自ICD-11)
别称:
Hsan1a
Neuropathy, Hereditary Sensory and Autonomic, Type 1a
Hereditary Sensory and Autonomic Neuropathy Type 1a
Hsan Ia
Hsn Ia
Hsan1
Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant, Type 1a
Hereditary Sensory Radicular Neuropathy Autosomal Dominant Type 1a
Neuropathy, Sensory and Autonomic, Hereditary, Type 1a
Hereditary Sensory and Autonomic Neuropathy Type Ia
Neuropathy, Hereditary Sensory and Autonomic, 1a
Hereditary Sensory Autonomic Neuropathy, Type 1
Neuropathy, Hereditary Sensory, Type Ia
Hereditary Sensory Neuropathy Type Ia
Hsan 1
Hsn1a
Hsn1
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Basic Information
Medical Symptom
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References Literature
Neuropathy, Hereditary Sensory and Autonomic, Type Ia, also known as hsan1a, is related to neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux and neuropathy, hereditary sensory, type id. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Ia is SPTLC1 (Serine Palmitoyltransferase Long Chain Base Subunit 1), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. Affiliated tissues include skin and skeletal muscle, and related phenotypes are cataract and skeletal muscle atrophy
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MALACARDS
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Unknown
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11
76
48

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