FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Peroxisome biogenesis disorder 4B ID (Ontology) DOID:0081433 (Human Disease)
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.
Also Known As "SCABD1" ; "spinocerebellar ataxia with blindness and deafness 1"
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 Genes
 Peroxisome biogenesis disorder 4B       1
 for disease ribbon | Peroxisome biogenesis disorder 4B       1
 model of | Peroxisome biogenesis disorder 4B       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease_______
 |__autosomal recessive disease______|
peroxisomal disease                  |
 |__peroxisomal biogenesis disorder__|
                                     Peroxisome biogenesis disorder 4B  1 rec.
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Is a autosomal dominant disease
autosomal recessive disease
peroxisomal biogenesis disorder
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Synonyms
  • "autosomal recessive spinocerebellar ataxia 3" RELATED
    "autosomal recessive spinocerebellar ataxia type 3" RELATED
    "autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome" BROAD
    "autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome" BROAD
    "SCABD" BROAD OMO:0003012
    "SCABD1" EXACT OMO:0003012
    "SCAR3" RELATED OMO:0003012
    "spinocerebellar ataxia with blindness and deafness 1" EXACT
Secondary IDs
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GARD:9971
MESH:C537309
MIM:614863
ORDO:95433
SNOMEDCT_US_2023_03_01:1204415006
UMLS_CUI:C1849094