PBD10B
MCID: PRX089
MIFTS: 20

Peroxisome Biogenesis Disorder 10b (PBD10B)

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 10b

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 10b:

Name: Peroxisome Biogenesis Disorder 10b 57 72 29 6
Pbd10b 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
one patient has been reported (last curated march 2017)


HPO:

31
peroxisome biogenesis disorder 10b:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 10b

UniProtKB/Swiss-Prot : 72 Peroxisome biogenesis disorder 10B: A moderately severe peroxisome biogenesis disorder belonging to the Zellweger disease spectrum. PBD10B is characterized by neonatal jaundice, dysmorphic features, delayed psychomotor development, axial hypotonia that can progress to severe spastic paraparesis with hyperreflexia, nephrocalcinosis, neurogenic bladder, nystagmus, and cataracts. Laboratory studies show increased levels of very long-chain fatty acids. Inheritance is autosomal recessive.

MalaCards based summary : Peroxisome Biogenesis Disorder 10b, is also known as pbd10b. An important gene associated with Peroxisome Biogenesis Disorder 10b is PEX3 (Peroxisomal Biogenesis Factor 3). Related phenotypes are hyperreflexia and nystagmus

More information from OMIM: 617370 PS214100

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 10b

Human phenotypes related to Peroxisome Biogenesis Disorder 10b:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 31 HP:0001347
2 nystagmus 31 HP:0000639
3 cataract 31 HP:0000518
4 global developmental delay 31 HP:0001263
5 low-set ears 31 HP:0000369
6 inverted nipples 31 HP:0003186
7 nephrocalcinosis 31 HP:0000121
8 high forehead 31 HP:0000348
9 spastic paraplegia 31 HP:0001258
10 prolonged neonatal jaundice 31 HP:0006579
11 posteriorly rotated ears 31 HP:0000358
12 generalized hypotonia 31 HP:0001290
13 neurogenic bladder 31 HP:0000011

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
spastic paraplegia
delayed psychomotor development
isolated seizures, mild

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Genitourinary Kidneys:
nephrocalcinosis

Genitourinary Bladder:
neurogenic bladder

Skin Nails Hair Skin:
jaundice, neonatal

Head And Neck Eyes:
nystagmus
cataracts

Chest Breasts:
inverted nipples

Head And Neck Face:
high forehead

Muscle Soft Tissue:
hypotonia

Laboratory Abnormalities:
increased levels of very long-chain fatty acids
fibroblasts show residual peroxisomal membrane structures

Clinical features from OMIM®:

617370 (Updated 05-Apr-2021)

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 10b

Search Clinical Trials , NIH Clinical Center for Peroxisome Biogenesis Disorder 10b

Genetic Tests for Peroxisome Biogenesis Disorder 10b

Genetic tests related to Peroxisome Biogenesis Disorder 10b:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorder 10b 29 PEX3

Anatomical Context for Peroxisome Biogenesis Disorder 10b

Publications for Peroxisome Biogenesis Disorder 10b

Articles related to Peroxisome Biogenesis Disorder 10b:

# Title Authors PMID Year
1
Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder. 57 6
27557811 2017

Variations for Peroxisome Biogenesis Disorder 10b

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 10b:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PEX3 NM_003630.3(PEX3):c.898C>T (p.Arg300Ter) SNV Pathogenic 390238 rs201179294 GRCh37: 6:143800292-143800292
GRCh38: 6:143479155-143479155
2 PEX3 NM_003630.3(PEX3):c.991G>A (p.Gly331Arg) SNV Likely pathogenic 390240 rs1057523689 GRCh37: 6:143806338-143806338
GRCh38: 6:143485201-143485201
3 PEX3 NM_003630.3(PEX3):c.16T>C (p.Trp6Arg) SNV Uncertain significance 1029735 GRCh37: 6:143772195-143772195
GRCh38: 6:143451058-143451058

UniProtKB/Swiss-Prot genetic disease variations for Peroxisome Biogenesis Disorder 10b:

72
# Symbol AA change Variation ID SNP ID
1 PEX3 p.Gly331Arg VAR_078657 rs105752368

Expression for Peroxisome Biogenesis Disorder 10b

Search GEO for disease gene expression data for Peroxisome Biogenesis Disorder 10b.

Pathways for Peroxisome Biogenesis Disorder 10b

GO Terms for Peroxisome Biogenesis Disorder 10b

Sources for Peroxisome Biogenesis Disorder 10b

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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