MCID: PRX062
MIFTS: 21

Peroxisome Biogenesis Disorder 8b

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 8b

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 8b:

Name: Peroxisome Biogenesis Disorder 8b 57 75 29 13 6 73
Pbd8b 57 75
Peroxisome Biogenesis Disorder, Type 8b 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
normal growth and development in first year of life
patients become wheelchair bound


HPO:

32
peroxisome biogenesis disorder 8b:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 8b

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 PEX16 gene have cells of complementation group 9 (CG9, equivalent to CGD). For information on the history of PBD complementation groups, see 214100. (614877)

MalaCards based summary : Peroxisome Biogenesis Disorder 8b, is also known as pbd8b, and has symptoms including ataxia, constipation and paraparesis, spastic. An important gene associated with Peroxisome Biogenesis Disorder 8b is PEX16 (Peroxisomal Biogenesis Factor 16). Affiliated tissues include liver, and related phenotypes are nystagmus and dysarthria

UniProtKB/Swiss-Prot : 75 Peroxisome biogenesis disorder 8B: A relatively mild peroxisome biogenesis disorder. Affected individuals manifest lower limb spasticity and ataxia resulting in wheelchair dependence. Other features include optic atrophy, cataracts, dysarthria, dysphagia, constipation, and a peripheral demyelinating motor and sensory neuropathy. Cognition is relatively preserved. Biochemical abnormalities are mild and include increased very-long- chain fatty acids (VLCFA), increased bile acid intermediates, and increased branched chain fatty acids. Phytanic acid alpha-oxidation, pristanic acid beta-oxidation, and red cell plasmalogen are normal.

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 8b

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
optic atrophy
cataracts
abnormal saccades
small and delayed visual evoked potentials (veps)

Growth Other:
failure to thrive

Genitourinary Bladder:
difficulty emptying bladder

Laboratory Abnormalities:
markedly enlarged, incompetent peroxisomes in fibroblasts
reduced numbers of peroxisomes in fibroblasts
elevated very long chain fatty acids (vlcfa)
elevated phytanic acid
elevated pristanic acid
more
Neurologic Central Nervous System:
ataxia
dysarthria
dysphagia
dysmetria
cerebellar vermis atrophy
more
Abdomen Gastrointestinal:
constipation
dysphagia necessitating gastrostomy feeding (1 patient)

Neurologic Peripheral Nervous System:
demyelinating motor and sensory neuropathy seen on emg and peripheral nerve velocity studies


Clinical features from OMIM:

614877

Human phenotypes related to Peroxisome Biogenesis Disorder 8b:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 dysarthria 32 HP:0001260
3 failure to thrive 32 HP:0001508
4 dysphagia 32 HP:0002015
5 constipation 32 HP:0002019
6 cataract 32 HP:0000518
7 global developmental delay 32 HP:0001263
8 sensorineural hearing impairment 32 HP:0000407
9 visual impairment 32 HP:0000505
10 optic atrophy 32 HP:0000648
11 neonatal hypotonia 32 HP:0001319
12 cognitive impairment 32 HP:0100543
13 decreased liver function 32 HP:0001410
14 dysmetria 32 HP:0001310
15 cerebellar vermis atrophy 32 HP:0006855
16 corpus callosum atrophy 32 HP:0007371
17 retinal dystrophy 32 HP:0000556
18 spastic paraparesis 32 HP:0002313
19 very long chain fatty acid accumulation 32 HP:0008167

UMLS symptoms related to Peroxisome Biogenesis Disorder 8b:


ataxia, constipation, paraparesis, spastic

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 8b

Search Clinical Trials , NIH Clinical Center for Peroxisome Biogenesis Disorder 8b

Genetic Tests for Peroxisome Biogenesis Disorder 8b

Genetic tests related to Peroxisome Biogenesis Disorder 8b:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorder 8b 29 PEX16

Anatomical Context for Peroxisome Biogenesis Disorder 8b

MalaCards organs/tissues related to Peroxisome Biogenesis Disorder 8b:

41
Liver

Publications for Peroxisome Biogenesis Disorder 8b

Variations for Peroxisome Biogenesis Disorder 8b

UniProtKB/Swiss-Prot genetic disease variations for Peroxisome Biogenesis Disorder 8b:

75
# Symbol AA change Variation ID SNP ID
1 PEX16 p.Pro289Thr VAR_069209
2 PEX16 p.Tyr331Cys VAR_069210 rs397514472

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 8b:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX16 PEX16, 1-BP DEL, 984G deletion Pathogenic
2 PEX16 NM_004813.2(PEX16): c.992A> G (p.Tyr331Cys) single nucleotide variant Pathogenic rs397514472 GRCh37 Chromosome 11, 45931824: 45931824
3 PEX16 NM_004813.2(PEX16): c.992A> G (p.Tyr331Cys) single nucleotide variant Pathogenic rs397514472 GRCh38 Chromosome 11, 45910273: 45910273
4 PEX16 PEX16, DEL, EX11 deletion Pathogenic
5 PEX16 NM_004813.2(PEX16): c.995_997delTCT (p.Phe332del) deletion Likely pathogenic rs797045062 GRCh37 Chromosome 11, 45931819: 45931821
6 PEX16 NM_004813.2(PEX16): c.995_997delTCT (p.Phe332del) deletion Likely pathogenic rs797045062 GRCh38 Chromosome 11, 45910268: 45910270

Expression for Peroxisome Biogenesis Disorder 8b

Search GEO for disease gene expression data for Peroxisome Biogenesis Disorder 8b.

Pathways for Peroxisome Biogenesis Disorder 8b

GO Terms for Peroxisome Biogenesis Disorder 8b

Sources for Peroxisome Biogenesis Disorder 8b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
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44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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