PBD2B
MCID: PRX064
MIFTS: 24

Peroxisome Biogenesis Disorder 2b (PBD2B)

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 2b

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 2b:

Name: Peroxisome Biogenesis Disorder 2b 56 73 13 71
Pbd2b 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
peroxisome biogenesis disorder 2b:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 2b

OMIM : 56 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 PEX5 gene have cells of complementation group 2 (CG2). For information on the history of PBD complementation groups, see 214100. (202370)

MalaCards based summary : Peroxisome Biogenesis Disorder 2b, is also known as pbd2b. An important gene associated with Peroxisome Biogenesis Disorder 2b is PEX5 (Peroxisomal Biogenesis Factor 5). Affiliated tissues include liver, bone and eye, and related phenotypes are low-set ears and frontal bossing

UniProtKB/Swiss-Prot : 73 Peroxisome biogenesis disorder 2B: 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 2b

Human phenotypes related to Peroxisome Biogenesis Disorder 2b:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 low-set ears 31 HP:0000369
2 frontal bossing 31 HP:0002007
3 intellectual disability 31 HP:0001249
4 seizures 31 HP:0001250
5 high palate 31 HP:0000218
6 wide nasal bridge 31 HP:0000431
7 abnormal facial shape 31 HP:0001999
8 anteverted nares 31 HP:0000463
9 prominent forehead 31 HP:0011220
10 dolichocephaly 31 HP:0000268
11 high, narrow palate 31 HP:0002705
12 epicanthus 31 HP:0000286
13 high forehead 31 HP:0000348
14 adrenal insufficiency 31 HP:0000846
15 esotropia 31 HP:0000565
16 elevated circulating long chain fatty acid concentration 31 HP:0003455
17 polar cataract 31 HP:0010696

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears

Head And Neck Head:
prominent forehead
dolichocephaly
high forehead

Head And Neck Eyes:
esotropia
epicanthal folds
cataracts, neonatal polar

Head And Neck Face:
peculiar facies

Laboratory Abnormalities:
elevated long chain fatty acids caused by mutation in the peroxisome biogenesis factor 5 gene (pex5, )

Neurologic Central Nervous System:
seizures
mental retardation

Endocrine Features:
adrenal insufficiency

Head And Neck Nose:
anteverted nostrils
nasal bridge broad

Head And Neck Mouth:
palate high-arched

Clinical features from OMIM:

202370

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 2b

Search Clinical Trials , NIH Clinical Center for Peroxisome Biogenesis Disorder 2b

Genetic Tests for Peroxisome Biogenesis Disorder 2b

Anatomical Context for Peroxisome Biogenesis Disorder 2b

MalaCards organs/tissues related to Peroxisome Biogenesis Disorder 2b:

40
Liver, Bone, Eye

Publications for Peroxisome Biogenesis Disorder 2b

Articles related to Peroxisome Biogenesis Disorder 2b:

# Title Authors PMID Year
1
Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. 56 6
7719337 1995
2
Genetics and molecular basis of human peroxisome biogenesis disorders. 56
22871920 2012
3
Zellweger Spectrum Disorder 6
20301621 2003
4
Chromosome 13 locus, Pbd2, regulates bone density in mice. 61
11697793 2001

Variations for Peroxisome Biogenesis Disorder 2b

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 2b:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PEX5 NM_001131025.1(PEX5):c.1578T>G (p.Asn526Lys)SNV Pathogenic 9143 rs61752138 12:7362296-7362296 12:7209700-7209700
2 PEX5 NM_001131025.1(PEX5):c.361G>T (p.Glu121Ter)SNV Pathogenic/Likely pathogenic 620217 rs1565673352 12:7344209-7344209 12:7191613-7191613
3 PEX5 NM_001131025.1(PEX5):c.1814G>A (p.Ser605Asn)SNV Uncertain significance 194614 rs146567534 12:7362713-7362713 12:7210117-7210117
4 PEX5 NM_001131025.1(PEX5):c.1636C>T (p.Arg546Cys)SNV Uncertain significance 565733 rs759334733 12:7362354-7362354 12:7209758-7209758
5 PEX5 NM_001131025.1(PEX5):c.164G>T (p.Gly55Val)SNV Uncertain significance 569225 rs752097814 12:7343500-7343500 12:7190904-7190904

UniProtKB/Swiss-Prot genetic disease variations for Peroxisome Biogenesis Disorder 2b:

73
# Symbol AA change Variation ID SNP ID
1 PEX5 p.Asn526Lys VAR_007543 rs61752138
2 PEX5 p.Ser600Trp VAR_031328

Expression for Peroxisome Biogenesis Disorder 2b

Search GEO for disease gene expression data for Peroxisome Biogenesis Disorder 2b.

Pathways for Peroxisome Biogenesis Disorder 2b

GO Terms for Peroxisome Biogenesis Disorder 2b

Sources for Peroxisome Biogenesis Disorder 2b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....