PBD10B
MCID: PRX089
MIFTS: 21

Peroxisome Biogenesis Disorder 10b (PBD10B)

Categories: Endocrine 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 75 29 6
Pbd10b 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
peroxisome biogenesis disorder 10b:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 10b

UniProtKB/Swiss-Prot : 75 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). Affiliated tissues include liver and eye, and related phenotypes are low-set ears and nystagmus

Description from OMIM: 617370

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 10b

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Neurologic Central Nervous System:
hyperreflexia
spastic paraplegia
delayed psychomotor development
isolated seizures, mild

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

Human phenotypes related to Peroxisome Biogenesis Disorder 10b:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 nystagmus 32 HP:0000639
3 hyperreflexia 32 HP:0001347
4 cataract 32 HP:0000518
5 global developmental delay 32 HP:0001263
6 inverted nipples 32 HP:0003186
7 nephrocalcinosis 32 HP:0000121
8 high forehead 32 HP:0000348
9 spastic paraplegia 32 HP:0001258
10 prolonged neonatal jaundice 32 HP:0006579
11 generalized hypotonia 32 HP:0001290
12 neurogenic bladder 32 HP:0000011
13 posteriorly rotated ears 32 HP:0000358

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

MalaCards organs/tissues related to Peroxisome Biogenesis Disorder 10b:

41
Liver, Eye

Publications for Peroxisome Biogenesis Disorder 10b

Variations for Peroxisome Biogenesis Disorder 10b

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

75
# Symbol AA change Variation ID SNP ID
1 PEX3 p.Gly331Arg VAR_078657 rs105752368

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 10b:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX3 NM_003630.2(PEX3): c.898C> T (p.Arg300Ter) single nucleotide variant Pathogenic rs201179294 GRCh37 Chromosome 6, 143800292: 143800292
2 PEX3 NM_003630.2(PEX3): c.898C> T (p.Arg300Ter) single nucleotide variant Pathogenic rs201179294 GRCh38 Chromosome 6, 143479155: 143479155
3 PEX3 NM_003630.2(PEX3): c.991G> A (p.Gly331Arg) single nucleotide variant Likely pathogenic rs1057523689 GRCh37 Chromosome 6, 143806338: 143806338
4 PEX3 NM_003630.2(PEX3): c.991G> A (p.Gly331Arg) single nucleotide variant Likely pathogenic rs1057523689 GRCh38 Chromosome 6, 143485201: 143485201

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
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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