MCID: PRX056
MIFTS: 27

Peroxisome Biogenesis Disorder 11b

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 11b

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 11b:

Name: Peroxisome Biogenesis Disorder 11b 57 75 29 13 6 73
Pbd11b 57 75
Peroxisome Biogenesis Disorder, Type 11b 40
Peroxisome Biogenesis 11b 13

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on description of 2 patients (last curated january 2017)
onset of disease precipitated by upper respiratory infection at 16 months of age(in one patient)


HPO:

32
peroxisome biogenesis disorder 11b:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 11b

OMIM : 57 The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012). For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539. Individuals with mutations in the PEX13 gene have cells of complementation group 13 (CG13, equivalent to CGH). For information on the history of PBD complementation groups, see 214100. (614885)

MalaCards based summary : Peroxisome Biogenesis Disorder 11b, also known as pbd11b, is related to deafness enamel hypoplasia nail defects and peroxisomal biogenesis disorders, and has symptoms including unspecified visual loss An important gene associated with Peroxisome Biogenesis Disorder 11b is PEX13 (Peroxisomal Biogenesis Factor 13), and among its related pathways/superpathways is Peroxisome. Affiliated tissues include liver, and related phenotypes are hearing abnormality and hearing impairment

UniProtKB/Swiss-Prot : 75 Peroxisome biogenesis disorder 11B: A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid.

Related Diseases for Peroxisome Biogenesis Disorder 11b

Graphical network of the top 20 diseases related to Peroxisome Biogenesis Disorder 11b:



Diseases related to Peroxisome Biogenesis Disorder 11b

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 11b

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss

Muscle Soft Tissue:
hypotonia, progressive
muscle weakness, progressive

Laboratory Abnormalities:
scarce peroxisomes in fibroblasts
residual beta-oxidation activity in fibroblasts
normal dihydroxyacetonephosphate acyltransferase (dhapat) activity in fibroblasts

Head And Neck Eyes:
vision loss
cataract

Neurologic Central Nervous System:
generalized paresis, severe (within 2 months of onset)


Clinical features from OMIM:

614885

Human phenotypes related to Peroxisome Biogenesis Disorder 11b:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hearing abnormality 32 HP:0000364
2 hearing impairment 32 HP:0000365
3 cataract 32 HP:0000518
4 visual loss 32 HP:0000572
5 generalized hypotonia 32 HP:0001290
6 muscle weakness 32 HP:0001324
7 progressive muscle weakness 32 HP:0003323
8 central hypotonia 32 HP:0011398
9 respiratory tract infection 32 HP:0011947
10 feeding difficulties 32 HP:0011968

UMLS symptoms related to Peroxisome Biogenesis Disorder 11b:


unspecified visual loss

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 11b

Search Clinical Trials , NIH Clinical Center for Peroxisome Biogenesis Disorder 11b

Genetic Tests for Peroxisome Biogenesis Disorder 11b

Genetic tests related to Peroxisome Biogenesis Disorder 11b:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorder 11b 29 PEX13

Anatomical Context for Peroxisome Biogenesis Disorder 11b

MalaCards organs/tissues related to Peroxisome Biogenesis Disorder 11b:

41
Liver

Publications for Peroxisome Biogenesis Disorder 11b

Variations for Peroxisome Biogenesis Disorder 11b

UniProtKB/Swiss-Prot genetic disease variations for Peroxisome Biogenesis Disorder 11b:

75
# Symbol AA change Variation ID SNP ID
1 PEX13 p.Ile326Thr VAR_009306 rs61752115

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 11b:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX13 NM_002618.3(PEX13): c.977T> C (p.Ile326Thr) single nucleotide variant Pathogenic rs61752115 GRCh37 Chromosome 2, 61275670: 61275670
2 PEX13 NM_002618.3(PEX13): c.977T> C (p.Ile326Thr) single nucleotide variant Pathogenic rs61752115 GRCh38 Chromosome 2, 61048535: 61048535
3 PEX1 NM_000466.2(PEX1): c.2916delA (p.Gly973Alafs) deletion Pathogenic/Likely pathogenic rs61750426 GRCh37 Chromosome 7, 92123811: 92123811
4 PEX1 NM_000466.2(PEX1): c.2916delA (p.Gly973Alafs) deletion Pathogenic/Likely pathogenic rs61750426 GRCh38 Chromosome 7, 92494497: 92494497
5 PEX13 NM_002618.3(PEX13): c.937T> G (p.Trp313Gly) single nucleotide variant Pathogenic rs61752113 GRCh37 Chromosome 2, 61275630: 61275630
6 PEX13 NM_002618.3(PEX13): c.937T> G (p.Trp313Gly) single nucleotide variant Pathogenic rs61752113 GRCh38 Chromosome 2, 61048495: 61048495

Expression for Peroxisome Biogenesis Disorder 11b

Search GEO for disease gene expression data for Peroxisome Biogenesis Disorder 11b.

Pathways for Peroxisome Biogenesis Disorder 11b

Pathways related to Peroxisome Biogenesis Disorder 11b according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.54 PEX1 PEX13

GO Terms for Peroxisome Biogenesis Disorder 11b

Cellular components related to Peroxisome Biogenesis Disorder 11b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peroxisome GO:0005777 8.96 PEX1 PEX13
2 peroxisomal membrane GO:0005778 8.62 PEX1 PEX13

Biological processes related to Peroxisome Biogenesis Disorder 11b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule-based peroxisome localization GO:0060152 8.62 PEX1 PEX13

Sources for Peroxisome Biogenesis Disorder 11b

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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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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