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PBD14B
MCID: PRX053
MIFTS: 28
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Peroxisome Biogenesis Disorder 14b (PBD14B)
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 14b:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
one patient has been reported (last curated january 2017) onset of disease precipitated by surgery to repair hydrocele testis at age 1.5 years wheelchair assistance for distances required in adulthood HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases Anatomical: Eye diseases Neuronal diseases Liver diseases Mental diseases Endocrine diseases Nephrological diseases |
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OMIM
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57
PBD14B is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy (Ebberink et al., 2012), all of which had been observed in patients with mild peroxisomal biogenesis disorders (e.g., Kelley et al., 1986; Poll-The et al., 1987). Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, was reported.
Thoms and Gartner (2012) classified the disorder described by Ebberink et al. (2012) in their patient as a mild 'Zellweger syndrome (214100) spectrum' (ZSS) disorder. See PBD1B (601539) for a phenotypic description and discussion of genetic heterogeneity of less severe phenotypes on the Zellweger syndrome spectrum. See PBD9B (614879) for another atypical peroxisome biogenesis disorder. (614920)
MalaCards based summary : Peroxisome Biogenesis Disorder 14b, also known as peroxisome biogenesis disorder, type 14b, is related to cataract, and has symptoms including dry skin An important gene associated with Peroxisome Biogenesis Disorder 14b is PEX11B (Peroxisomal Biogenesis Factor 11 Beta). Affiliated tissues include skin, testis and liver, and related phenotypes are nystagmus and muscle weakness UniProtKB/Swiss-Prot : 75 Peroxisome biogenesis disorder 14B: An autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy. Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, are observed. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:614920Human phenotypes related to Peroxisome Biogenesis Disorder 14b:32 (show all 11)
UMLS symptoms related to Peroxisome Biogenesis Disorder 14b:dry skin |
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MalaCards organs/tissues related to Peroxisome Biogenesis Disorder 14b:41
Skin,
Testis,
Liver,
Heart,
Eye
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Articles related to Peroxisome Biogenesis Disorder 14b:
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Genes related to Peroxisome Biogenesis Disorder 14b (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 14b:6
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Search
GEO
for disease gene expression data for Peroxisome Biogenesis Disorder 14b.
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