PBD8B
MCID: PRX062
MIFTS: 27

Peroxisome Biogenesis Disorder 8b (PBD8B)

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 8b

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 8b:

Name: Peroxisome Biogenesis Disorder 8b 57 72 29 13 6 70
Pbd8b 57 72
Peroxisome Biogenesis Disorder, Type 8b 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
peroxisome biogenesis disorder 8b:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


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) (Updated 05-Apr-2021)

MalaCards based summary : Peroxisome Biogenesis Disorder 8b, also known as pbd8b, is related to peroxisome biogenesis disorder 8a and methylmalonic aciduria due to methylmalonyl-coa mutase deficiency, 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 failure to thrive and nystagmus

UniProtKB/Swiss-Prot : 72 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

Human phenotypes related to Peroxisome Biogenesis Disorder 8b:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 nystagmus 31 HP:0000639
3 dysarthria 31 HP:0001260
4 dysphagia 31 HP:0002015
5 constipation 31 HP:0002019
6 cataract 31 HP:0000518
7 global developmental delay 31 HP:0001263
8 sensorineural hearing impairment 31 HP:0000407
9 visual impairment 31 HP:0000505
10 optic atrophy 31 HP:0000648
11 neonatal hypotonia 31 HP:0001319
12 cognitive impairment 31 HP:0100543
13 dysmetria 31 HP:0001310
14 very long chain fatty acid accumulation 31 HP:0008167
15 leukodystrophy 31 HP:0002415
16 spastic paraparesis 31 HP:0002313
17 retinal dystrophy 31 HP:0000556
18 cerebellar vermis atrophy 31 HP:0006855
19 decreased liver function 31 HP:0001410
20 corpus callosum atrophy 31 HP:0007371

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Neurologic Central Nervous System:
ataxia
dysarthria
dysphagia
dysmetria
spastic paraparesis
more
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
Head And Neck Eyes:
nystagmus
optic atrophy
cataracts
abnormal saccades
small and delayed visual evoked potentials (veps)

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 (Updated 05-Apr-2021)

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:

40
Liver

Publications for Peroxisome Biogenesis Disorder 8b

Articles related to Peroxisome Biogenesis Disorder 8b:

# Title Authors PMID Year
1
Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. 57 6
20647552 2010
2
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
3
Genetics and molecular basis of human peroxisome biogenesis disorders. 57
22871920 2012
4
Diagnosis and follow-up of a case of peroxisomal disorder with peroxisomal mosaicism. 57
10573465 1999

Variations for Peroxisome Biogenesis Disorder 8b

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 8b:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PEX16 NM_057174.2(PEX16):c.953-104del Deletion Pathogenic 30351 rs1590793006 GRCh37: 11:45931832-45931832
GRCh38: 11:45910281-45910281
2 PEX16 NM_057174.2(PEX16):c.953-96A>G SNV Pathogenic 30352 rs397514472 GRCh37: 11:45931824-45931824
GRCh38: 11:45910273-45910273
3 PEX16 PEX16, DEL, EX11 Deletion Pathogenic 30353 GRCh37:
GRCh38:
4 PEX16 NM_057174.2(PEX16):c.953-93_953-91del Deletion Likely pathogenic 209181 rs797045062 GRCh37: 11:45931819-45931821
GRCh38: 11:45910268-45910270
5 PEX16 NM_004813.3(PEX16):c.695-6C>T SNV Uncertain significance 198814 rs372182266 GRCh37: 11:45935760-45935760
GRCh38: 11:45914209-45914209
6 PEX16 NM_004813.3(PEX16):c.262G>A (p.Val88Met) SNV Uncertain significance 498836 rs567165324 GRCh37: 11:45937351-45937351
GRCh38: 11:45915800-45915800
7 MMUT NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys) SNV Uncertain significance 909634 GRCh37: 6:49403330-49403330
GRCh38: 6:49435617-49435617
8 PEX16 NM_004813.3(PEX16):c.859C>T (p.Arg287Cys) SNV Uncertain significance 561075 rs769772100 GRCh37: 11:45935398-45935398
GRCh38: 11:45913847-45913847
9 PEX16 NM_004813.3(PEX16):c.461A>G (p.Asp154Gly) SNV Uncertain significance 500755 rs140695185 GRCh37: 11:45936235-45936235
GRCh38: 11:45914684-45914684
10 PEX16 NM_004813.3(PEX16):c.760G>C (p.Val254Leu) SNV not provided 304788 rs35214605 GRCh37: 11:45935689-45935689
GRCh38: 11:45914138-45914138

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

72
# Symbol AA change Variation ID SNP ID
1 PEX16 p.Pro289Thr VAR_069209
2 PEX16 p.Tyr331Cys VAR_069210 rs397514472

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 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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