PBD2B
MCID: PRX064
MIFTS: 21

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 57 75 13 73
Pbd2b 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
peroxisome biogenesis disorder 2b:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 2b

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 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 and eye, and related phenotypes are low-set ears and frontal bossing

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Peroxisome Biogenesis Disorder 2b:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 frontal bossing 32 HP:0002007
3 high palate 32 HP:0000218
4 intellectual disability 32 HP:0001249
5 seizures 32 HP:0001250
6 wide nasal bridge 32 HP:0000431
7 abnormal facial shape 32 HP:0001999
8 anteverted nares 32 HP:0000463
9 epicanthus 32 HP:0000286
10 dolichocephaly 32 HP:0000268
11 high, narrow palate 32 HP:0002705
12 adrenal insufficiency 32 HP:0000846
13 esotropia 32 HP:0000565
14 elevated long chain fatty acids 32 HP:0003455
15 polar cataract 32 HP:0010696

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:

41
Liver, Eye

Publications for Peroxisome Biogenesis Disorder 2b

Variations for Peroxisome Biogenesis Disorder 2b

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

75
# Symbol AA change Variation ID SNP ID
1 PEX5 p.Asn526Lys VAR_007543 rs61752138
2 PEX5 p.Ser600Trp VAR_031328

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 2b:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX5 NM_001131025.1(PEX5): c.1578T> G (p.Asn526Lys) single nucleotide variant Pathogenic rs61752138 GRCh37 Chromosome 12, 7362296: 7362296
2 PEX5 NM_001131025.1(PEX5): c.1578T> G (p.Asn526Lys) single nucleotide variant Pathogenic rs61752138 GRCh38 Chromosome 12, 7209700: 7209700
3 PEX5 NM_001131025.1(PEX5): c.1814G> A (p.Ser605Asn) single nucleotide variant Uncertain significance rs146567534 GRCh37 Chromosome 12, 7362713: 7362713
4 PEX5 NM_001131025.1(PEX5): c.1814G> A (p.Ser605Asn) single nucleotide variant Uncertain significance rs146567534 GRCh38 Chromosome 12, 7210117: 7210117
5 PEX5 NM_001131025.1(PEX5): c.815T> C (p.Met272Thr) single nucleotide variant Benign/Likely benign rs76708142 GRCh37 Chromosome 12, 7355269: 7355269
6 PEX5 NM_001131025.1(PEX5): c.815T> C (p.Met272Thr) single nucleotide variant Benign/Likely benign rs76708142 GRCh38 Chromosome 12, 7202673: 7202673
7 PEX5 NM_000319.4(PEX5): c.449-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 12, 7199009: 7199009
8 PEX5 NM_000319.4(PEX5): c.449-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 12, 7351605: 7351605
9 PEX5 NM_001131025.1(PEX5): c.1636C> T (p.Arg546Cys) single nucleotide variant Uncertain significance rs759334733 GRCh37 Chromosome 12, 7362354: 7362354
10 PEX5 NM_001131025.1(PEX5): c.1636C> T (p.Arg546Cys) single nucleotide variant Uncertain significance rs759334733 GRCh38 Chromosome 12, 7209758: 7209758
11 PEX5 NM_001131025.1(PEX5): c.164G> T (p.Gly55Val) single nucleotide variant Uncertain significance rs752097814 GRCh38 Chromosome 12, 7190904: 7190904
12 PEX5 NM_001131025.1(PEX5): c.164G> T (p.Gly55Val) single nucleotide variant Uncertain significance rs752097814 GRCh37 Chromosome 12, 7343500: 7343500

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

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74 UMLS via Orphanet
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