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MCID: PRX058
MIFTS: 22
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Peroxisome Biogenesis Disorder 4b
Categories:
Genetic diseases, Nephrological diseases, Liver diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Fetal diseases, Rare diseases, Endocrine diseases
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MalaCards integrated aliases for Peroxisome Biogenesis Disorder 4b:
Characteristics:OMIM:57
Inheritance:
autosomal recessive autosomal dominant
Miscellaneous:
appropriate development until 6 months of age progressive disease leading to death at age 4 autosomal dominant inheritance occurs with a heterozygous mutation in pex6 in conjunction with a 3-prime utr polymorphism in cis causing allelic expression imbalance (aei) HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases Anatomical: Nephrological diseases Liver diseases Neuronal diseases Eye diseases Endocrine diseases |
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OMIM
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57
Peroxisome biogenesis disorder-4B (PDB4B) includes the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). 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 PEX6 gene have cells of complementation group 4 (CG4, equivalent to CG6 and CGC). For information on the history of PBD complementation groups, see 214100. (614863)
MalaCards based summary : Peroxisome Biogenesis Disorder 4b, is also known as pbd4b, and has symptoms including ataxia, seizures and recurrent fevers. An important gene associated with Peroxisome Biogenesis Disorder 4b is PEX6 (Peroxisomal Biogenesis Factor 6). Affiliated tissues include liver, and related phenotypes are macrocephaly and hypertelorism UniProtKB/Swiss-Prot : 75 Peroxisome biogenesis disorder 4B: 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. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:614863Human phenotypes related to Peroxisome Biogenesis Disorder 4b:32 (show all 18)
UMLS symptoms related to Peroxisome Biogenesis Disorder 4b:ataxia, seizures, recurrent fevers |
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MalaCards organs/tissues related to Peroxisome Biogenesis Disorder 4b:41
Liver
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Genes related to Peroxisome Biogenesis Disorder 4b (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 4b:6
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Search
GEO
for disease gene expression data for Peroxisome Biogenesis Disorder 4b.
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