PBD11B
MCID: PRX056
MIFTS: 26

Peroxisome Biogenesis Disorder 11b (PBD11B)

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 11b

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 11b:

Name: Peroxisome Biogenesis Disorder 11b 57 72 29 13 6 70
Pbd11b 57 72
Peroxisome Biogenesis Disorder, Type 11b 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
peroxisome biogenesis disorder 11b:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 614885
OMIM Phenotypic Series 57 PS214100
MeSH 44 D052919
UMLS 70 C3554001

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) (Updated 20-May-2021)

MalaCards based summary : Peroxisome Biogenesis Disorder 11b, also known as pbd11b, is related to peroxisome biogenesis disorder 11a and peroxisome biogenesis disorder 1a, and has symptoms including unspecified visual loss An important gene associated with Peroxisome Biogenesis Disorder 11b is PEX13 (Peroxisomal Biogenesis Factor 13). Affiliated tissues include eye and liver, and related phenotypes are muscle weakness and hearing impairment

UniProtKB/Swiss-Prot : 72 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.

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 11b

Human phenotypes related to Peroxisome Biogenesis Disorder 11b:

31 (showing 10, show less)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 HP:0001324
2 hearing impairment 31 HP:0000365
3 cataract 31 HP:0000518
4 hearing abnormality 31 HP:0000364
5 feeding difficulties 31 HP:0011968
6 respiratory tract infection 31 HP:0011947
7 generalized hypotonia 31 HP:0001290
8 visual loss 31 HP:0000572
9 progressive muscle weakness 31 HP:0003323
10 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
cataract
vision loss

Muscle Soft Tissue:
muscle weakness, progressive
hypotonia, progressive

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

Head And Neck Ears:
hearing loss

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

Clinical features from OMIM®:

614885 (Updated 20-May-2021)

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:

40
Eye, Liver

Publications for Peroxisome Biogenesis Disorder 11b

Articles related to Peroxisome Biogenesis Disorder 11b:

(showing 5, show less)
# Title Authors PMID Year
1
Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients. 6 57
17041890 2006
2
PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders. 57 6
10441568 1999
3
Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13. 57 6
9480815 1998
4
Genetics and molecular basis of human peroxisome biogenesis disorders. 57
22871920 2012
5
Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders. 6
10332040 1999

Variations for Peroxisome Biogenesis Disorder 11b

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 11b:

6 (showing 4, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PEX13 NM_002618.4(PEX13):c.977T>C (p.Ile326Thr) SNV Pathogenic 7704 rs61752115 GRCh37: 2:61275670-61275670
GRCh38: 2:61048535-61048535
2 PEX13 NM_002618.4(PEX13):c.937T>G (p.Trp313Gly) SNV Pathogenic 375270 rs61752113 GRCh37: 2:61275630-61275630
GRCh38: 2:61048495-61048495
3 PEX13 , PUS10 NM_002618.4(PEX13):c.89T>C (p.Phe30Ser) SNV Uncertain significance 500639 rs771610641 GRCh37: 2:61244983-61244983
GRCh38: 2:61017848-61017848
4 PEX13 NM_002618.4(PEX13):c.893T>C (p.Met298Thr) SNV Uncertain significance 196352 rs138545154 GRCh37: 2:61272966-61272966
GRCh38: 2:61045831-61045831

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

72 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 PEX13 p.Ile326Thr VAR_009306 rs61752115

Expression for Peroxisome Biogenesis Disorder 11b

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

Pathways for Peroxisome Biogenesis Disorder 11b

GO Terms for Peroxisome Biogenesis Disorder 11b

Sources for Peroxisome Biogenesis Disorder 11b

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....