Leukodystrophy, Hypomyelinating, 2 (HLD2)

Alias:

Hypomyelinating Leukodystrophy 2

Pmld1

Hld2

Pelizaeus-Merzbacher-Like Disease Due to Gjc2 Mutation

Pelizaeus-Merzbacher-Like Disease Type 1

Pelizaeus-Merzbacher-Like Disease 1

Pelizaeus-Merzbacher-Like Disease Autosomal Recessive Type 1

Pmld - Pelizaeus Merzbacher Like Disease

Leukodystrophy, Hypomyelinating, Type 2

Pelizaeus-Merzbacher-Like Disease, 1

Pelizaeus-Merzbacher-Like Disease

Pelizaeus Merzbacher Like Disease

Pmldar1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Leukodystrophy, Hypomyelinating, 2, also known as hypomyelinating leukodystrophy 2, is related to leukodystrophy, hypomyelinating, 3 and leukodystrophy, hypomyelinating, 4, and has symptoms including ataxia, muscle rigidity and seizures. An important gene associated with Leukodystrophy, Hypomyelinating, 2 is GJC2 (Gap Junction Protein Gamma 2), and among its related pathways/superpathways are Vesicle-mediated transport and G-protein signaling G-Protein alpha-i signaling cascades. Affiliated tissues include spinal cord and brain, and related phenotypes are nystagmus and ataxia

Related ID：

MALACARDS：LKD010

OMIM：608804

MESH：D020279