Peroxisome Biogenesis Disorder 14b

External Ids:

OMIM 57 614920 MedGen 42 C3554055 CN160486 MeSH 44 D018901

SNOMED-CT via HPO 69 258211005 165232002 26614003 386152007 55434001 609587005 79410001 563001 16386004 86765009 302226006 42345000 42658009 349006 37280007 26544005 37796009 more UMLS 73 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)

MalaCards based summary : Peroxisome Biogenesis Disorder 14b, also known as peroxisome biogenesis disorder, type 14b, is related to cataract and peroxisomal biogenesis disorders, 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 heart, and related phenotypes are urinary incontinence and hydrocele testis

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.

Clinical features from OMIM:

614920

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased gamma-H2AX phosphorylation	GR00053-A	8.62	GNRHR2 PEX11B

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

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