Peroxisome Biogenesis Disorder 14b (PEX14B)

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OMIM® 57 614920 OMIM Phenotypic Series 57 PS214100 MeSH 44 D018901

MedGen 41 C3554055 CN160486 SNOMED-CT via HPO 68 16386004 165232002 258211005 26544005 26614003 302226006 349006 37280007 37796009 386152007 42345000 42658009 55434001 563001 609587005 79410001 86765009 more UMLS 70 C3554055

OMIM® : 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) (Updated 05-Apr-2021)

MalaCards based summary : Peroxisome Biogenesis Disorder 14b, also known as peroxisome biogenesis disorder, type 14b, is related to cataract and alacrima, achalasia, and mental retardation syndrome, 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 testis and heart, and related phenotypes are nystagmus and muscle weakness

UniProtKB/Swiss-Prot : ⁷² 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.

Clinical features from OMIM®:

614920 (Updated 05-Apr-2021)

Search Clinical Trials , NIH Clinical Center for Peroxisome Biogenesis Disorder 14b

Search GEO for disease gene expression data for Peroxisome Biogenesis Disorder 14b.