MCID: PRX064
MIFTS: 19

Peroxisome Biogenesis Disorder 2b

Categories: Genetic diseases, Nephrological diseases, Liver diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Fetal diseases, Rare diseases, Endocrine 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 related phenotypes are high palate and dolichocephaly

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
Neuro:
seizures
mental retardation

Endo:
adrenal insufficiency

Facies:
peculiar facies

Nose:
nasal bridge broad
nostrils anteverted

Skin:
tanning

Head:
dolichocephaly
forehead prominent
forehead high

Eye:
esotropia
epicanthal folds
cataracts, neonatal polar

Mouth:
palate high-arched

Ears:
low-set

Lab:
elevated long chain fatty acids


Clinical features from OMIM:

202370

Human phenotypes related to Peroxisome Biogenesis Disorder 2b:

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

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
# 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.815T> C (p.Met272Thr) single nucleotide variant Benign/Likely benign rs76708142 GRCh37 Chromosome 12, 7355269: 7355269
4 PEX5 NM_001131025.1(PEX5): c.815T> C (p.Met272Thr) single nucleotide variant Benign/Likely benign rs76708142 GRCh38 Chromosome 12, 7202673: 7202673
5 PEX5 NM_000319.4(PEX5): c.449-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 12, 7351605: 7351605
6 PEX5 NM_000319.4(PEX5): c.449-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 12, 7199009: 7199009

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 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
Content
Loading form....