Peroxisome biogenesis disorder 4B

Term ID

DOID:0081433

Synonyms

• autosomal recessive spinocerebellar ataxia 3
• SCABD1
• spinocerebellar ataxia with blindness and deafness 1

Definition

A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1, or overexpression of a heterozygous mutation in PEX6 due to allelic expression imbalance resulting from a polymorphism on the mutant allele in the PEX6 3-prime UTR. (2)

References

• GARD:9971
• MIM:614863
• ORDO:95433
• SNOMEDCT_US_2025_09_01:1204415006
• UMLS_CUI:C1849094

Ontology

Human Disease   ( DOID:0081433 )