Disorders of peroxisome biogenesis

Description

Peroxisome biogenesis disorders (PBDs) include the Zellweger syndrome spectrum (PBD-ZSD) and rhizomelic chondrodysplasia punctata type 1 (RCDP1). PBD-ZSD represents a continuum of disorders including infantile Refsum disease, neonatal adrenoleukodystrophy, and Zellweger syndrome. Collectively, PBDs are autosomal recessive developmental brain disorders that also result in skeletal and craniofacial dysmorphism, liver dysfunction, progressive sensorineural hearing loss, and retinopathy.

Index terms

Disorders of peroxisome biogenesis
Hyperpipecolic acidaemia
Zellweger spectrum disorder

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Zellweger syndrome
Cerebrohepatorenal syndrome
Zellweger spectrum disorder, severe form
Zellweger spectrum disorder, mild form
Zellweger spectrum disorder, unclassified clinical severity
PEX1 deficiency
PEX2 deficiency
PEX3 deficiency
PEX5 deficiency
PEX6 deficiency
PEX10 deficiency
PEX12 deficiency
PEX13 deficiency
PEX14 deficiency
PEX16 deficiency
PEX19 deficiency
PEX26 deficiency

Exclusions from above levels

http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
5A71.01 – Congenital adrenal hyperplasia

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5A81.1 – 5-alpha-reductase deficiency
LD28.01 – Marfan syndrome
LD28.1 – Ehlers-Danlos syndrome
LD2A.4 – androgen resistance syndrome
18 – Pregnancy, childbirth or the puerperium
http://id.who.int/icd/entity/1004987305 – Transitory endocrine or metabolic disorders specific to fetus or newborn

Sibling codes

5C57.1 – Disorders of peroxisomal alpha-, beta- or omega-oxidation
5C57.Y – Other specified peroxisomal diseases
5C57.Z – Peroxisomal diseases, unspecified

Foundation entity

Disorders of peroxisome biogenesis – http://id.who.int/icd/entity/1919322367

Part of: 5C57: Peroxisomal diseases › 05: Endocrine, nutritional or metabolic diseases