PBD2B
MCID: PRX064
MIFTS: 23
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Peroxisome Biogenesis Disorder 2b (PBD2B)
Categories:
Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Peroxisome Biogenesis Disorder 2b:Characteristics:HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases Anatomical: Eye diseases Endocrine diseases Liver diseases Neuronal diseases Nephrological diseases Mental diseases |
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)
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 liver and bone, and related phenotypes are low-set ears and frontal bossing UniProtKB/Swiss-Prot : 74 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. |
Human phenotypes related to Peroxisome Biogenesis Disorder 2b:32 (show all 17)
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:202370 |
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MalaCards organs/tissues related to Peroxisome Biogenesis Disorder 2b:41
Liver,
Bone
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Articles related to Peroxisome Biogenesis Disorder 2b:
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ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 2b:6
UniProtKB/Swiss-Prot genetic disease variations for Peroxisome Biogenesis Disorder 2b:74
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Search
GEO
for disease gene expression data for Peroxisome Biogenesis Disorder 2b.
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