PEX14B
MCID: PRX053
MIFTS: 27

Peroxisome Biogenesis Disorder 14b (PEX14B)

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

Aliases & Classifications for Peroxisome Biogenesis Disorder 14b

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 14b:

Name: Peroxisome Biogenesis Disorder 14b 57 72 29 13 6 70
Peroxisome Biogenesis Disorder, Type 14b 39
Pex14b 57
Pbd14b 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
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) (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.

Related Diseases for Peroxisome Biogenesis Disorder 14b

Graphical network of the top 20 diseases related to Peroxisome Biogenesis Disorder 14b:



Diseases related to Peroxisome Biogenesis Disorder 14b

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 14b

Human phenotypes related to Peroxisome Biogenesis Disorder 14b:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 muscle weakness 31 HP:0001324
3 intellectual disability, mild 31 HP:0001256
4 dry skin 31 HP:0000958
5 areflexia 31 HP:0001284
6 migraine 31 HP:0002076
7 polyneuropathy 31 HP:0001271
8 progressive hearing impairment 31 HP:0001730
9 urinary incontinence 31 HP:0000020
10 developmental cataract 31 HP:0000519
11 hydrocele testis 31 HP:0000034

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

UMLS symptoms related to Peroxisome Biogenesis Disorder 14b:


dry skin

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:

40
Testis, Heart

Publications for Peroxisome Biogenesis Disorder 14b

Articles related to Peroxisome Biogenesis Disorder 14b:

# Title Authors PMID Year
1
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene. 6 57
22581968 2012
2
Variant analysis of PEX11B gene from a family with peroxisome biogenesis disorder 14B by whole exome sequencing. 6 61
31724321 2020
3
First PEX11β patient extends spectrum of peroxisomal biogenesis disorder phenotypes. 57
22581969 2012
4
PEX11 beta deficiency is lethal and impairs neuronal migration but does not abrogate peroxisome function. 57
12024045 2002
5
Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy. 57
2445576 1987
6
Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. 57
3515938 1986
7
Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature. 61
28129423 2017

Variations for Peroxisome Biogenesis Disorder 14b

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 14b:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PEX11B NM_003846.3(PEX11B):c.64C>T (p.Gln22Ter) SNV Pathogenic 39723 rs397515419 GRCh37: 1:145517280-145517280
GRCh38: 1:145917809-145917809
2 PEX11B NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter) SNV Pathogenic 453307 rs781984979 GRCh37: 1:145522734-145522734
GRCh38: 1:145912346-145912346
3 PEX11B NM_003846.3(PEX11B):c.277C>T (p.Arg93Ter) SNV Pathogenic 453306 rs781939614 GRCh37: 1:145518175-145518175
GRCh38: 1:145916914-145916914

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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