Peroxisome Biogenesis Disorder 2b (PBD2B)

External Ids:

Disease Ontology 12 DOID:0080622 OMIM® 57 202370 OMIM Phenotypic Series 57 PS214100 MeSH 44 D052919

MedGen 41 C0282525 C3550234 SNOMED-CT via HPO 68 111563005 128613002 16596007 228156007 237785004 246545002 247578003 248200007 249321001 258211005 27272007 313307000 32003007 386584007 398206004 398302004 708670007 72239002 84757009 90145001 91138005 91175000 95515009 more UMLS 71 C3550234

OMIM® : ⁵⁷ The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012). For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539. Individuals with mutations in the PEX5 gene have cells of complementation group 2 (CG2). For information on the history of PBD complementation groups, see 214100. (202370) (Updated 05-Mar-2021)

MalaCards based summary : Peroxisome Biogenesis Disorder 2b, is also known as pbd2b. An important gene associated with Peroxisome Biogenesis Disorder 2b is PEX5 (Peroxisomal Biogenesis Factor 5). Affiliated tissues include bone, and related phenotypes are intellectual disability and frontal bossing

Disease Ontology : ¹² A peroxisomal biogenesis disorder that has material basis in homozygous mutation in the PEX5 gene on chromosome 12p13.3.

UniProtKB/Swiss-Prot : ⁷³ Peroxisome biogenesis disorder 2B: A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid.

Clinical features from OMIM®:

202370 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Peroxisome Biogenesis Disorder 2b

Search GEO for disease gene expression data for Peroxisome Biogenesis Disorder 2b.