Zellweger Syndrome D015211

Related MeSH Hierarchy (11)

Diseases [C] » Urogenital Diseases [C12] » Male Urogenital Diseases » Urologic Diseases » Kidney Diseases » Zellweger Syndrome

Diseases [C] » Urogenital Diseases [C12] » Urologic Diseases » Kidney Diseases » Zellweger Syndrome

Diseases [C] » Digestive System Diseases [C06] » Liver Diseases » Zellweger Syndrome

Description

An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.   MeSH

Phase 3 Indicated Drugs (1)

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Organization Involved with Phase 3 Indications (2)

Organization Involved with Phase 2 Indications (2)

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