MCID: PRX053
MIFTS: 27

Peroxisome Biogenesis Disorder 14b

Categories: Genetic diseases, Nephrological diseases, Liver diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Fetal diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Peroxisome Biogenesis Disorder 14b

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 14b:

Name: Peroxisome Biogenesis Disorder 14b 57 75 29 13 6 73
Peroxisome Biogenesis Disorder, Type 14b 40
Pex14b 57
Pbd14b 75

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:

32
peroxisome biogenesis disorder 14b:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 14b

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.

Related Diseases for Peroxisome Biogenesis Disorder 14b

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 14b

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
congenital cataract, bilateral

Skin Nails Hair Skin:
dry skin
scaling of skin on hands and feet

Genitourinary External Genitalia Male:
hydrocele testis

Cardiovascular Heart:
normal heart

Muscle Soft Tissue:
predominance of type i fibers in muscle
muscular weakness (lower extremities)
low normal motor conduction velocity and absent sensory responses seen on emg

Prenatal Manifestations Maternal:
uncomplicated pregnancy
uncomplicated delivery

Neurologic Central Nervous System:
intellectual disability, mild
chiari malformation type i
migraine-like episodes following stress or physical exertion
normal eeg

Genitourinary Bladder:
urinary incontinence

Head And Neck Ears:
hearing loss, progressive bilateral

Abdomen Gastrointestinal:
gastrointestinal problems

Neurologic Peripheral Nervous System:
reduced myelinated fibers
low symmetric reflexes (in upper extremities)
sensory abnormalities (in lower extremities)
areflexia (in lower extremities)

Laboratory Abnormalities:
complete absence of pex11b in patient fibroblasts
decreased numbers of peroxisomes
enlarged and elongated peroxisomes
aberrant phenotype exacerbated by culturing at 40c
no abnormalities in standard biochemical peroxisomal parameters in plasma, erythrocytes, or cultured skin fibroblasts


Clinical features from OMIM:

614920

Human phenotypes related to Peroxisome Biogenesis Disorder 14b:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 urinary incontinence 32 HP:0000020
2 hydrocele testis 32 HP:0000034
3 congenital cataract 32 HP:0000519
4 nystagmus 32 HP:0000639
5 dry skin 32 HP:0000958
6 intellectual disability, mild 32 HP:0001256
7 polyneuropathy 32 HP:0001271
8 areflexia 32 HP:0001284
9 muscle weakness 32 HP:0001324
10 progressive hearing impairment 32 HP:0001730
11 migraine 32 HP:0002076

UMLS symptoms related to Peroxisome Biogenesis Disorder 14b:


dry skin

GenomeRNAi Phenotypes related to Peroxisome Biogenesis Disorder 14b according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 8.62 GNRHR2 PEX11B

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 14b

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

Genetic Tests for Peroxisome Biogenesis Disorder 14b

Genetic tests related to Peroxisome Biogenesis Disorder 14b:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorder 14b 29 PEX11B

Anatomical Context for Peroxisome Biogenesis Disorder 14b

MalaCards organs/tissues related to Peroxisome Biogenesis Disorder 14b:

41
Skin, Testis, Heart

Publications for Peroxisome Biogenesis Disorder 14b

Articles related to Peroxisome Biogenesis Disorder 14b:

# Title Authors Year
1
Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature. ( 28129423 )
2017

Variations for Peroxisome Biogenesis Disorder 14b

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 14b:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX11B NM_003846.2(PEX11B): c.64C> T (p.Gln22Ter) single nucleotide variant Pathogenic rs397515419 GRCh37 Chromosome 1, 145517280: 145517280
2 PEX11B NM_003846.2(PEX11B): c.64C> T (p.Gln22Ter) single nucleotide variant Pathogenic rs397515419 GRCh38 Chromosome 1, 145917809: 145917809
3 PEX11B NM_003846.2(PEX11B): c.595C> T (p.Arg199Ter) single nucleotide variant Pathogenic rs781984979 GRCh37 Chromosome 1, 145522734: 145522734
4 PEX11B NM_003846.2(PEX11B): c.595C> T (p.Arg199Ter) single nucleotide variant Pathogenic rs781984979 GRCh38 Chromosome 1, 145912346: 145912346
5 PEX11B NM_003846.2(PEX11B): c.277C> T (p.Arg93Ter) single nucleotide variant Pathogenic rs781939614 GRCh38 Chromosome 1, 145916914: 145916914
6 PEX11B NM_003846.2(PEX11B): c.277C> T (p.Arg93Ter) single nucleotide variant Pathogenic rs781939614 GRCh37 Chromosome 1, 145518175: 145518175

Expression for Peroxisome Biogenesis Disorder 14b

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

Pathways for Peroxisome Biogenesis Disorder 14b

GO Terms for Peroxisome Biogenesis Disorder 14b

Sources for Peroxisome Biogenesis Disorder 14b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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