PBD2B
MCID: PRX064
MIFTS: 26

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 12 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 and bone, and related phenotypes are intellectual disability and wide nasal bridge

Disease Ontology : 12 A peroxisomal biogenesis disorder that has material basis in homozygous mutation in the PEX5 gene on chromosome 12p13.3.

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

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
mental retardation

Head And Neck Ears:
low-set ears

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, )

Head And Neck Head:
prominent forehead
dolichocephaly
high forehead

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

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. 6 56
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 (show all 50) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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_001351132.2(PEX5):c.1800G>A (p.Ser600=)SNV Conflicting interpretations of pathogenicity 728603 12:7362699-7362699 12:7210103-7210103
4 PEX5 NM_001131025.1(PEX5):c.1111-4C>GSNV Conflicting interpretations of pathogenicity 499518 rs376699778 12:7360602-7360602 12:7208006-7208006
5 PEX5 NM_001131025.1(PEX5):c.1872C>T (p.Asp624=)SNV Conflicting interpretations of pathogenicity 500773 rs148914171 12:7362771-7362771 12:7210175-7210175
6 PEX5 NM_001131025.1(PEX5):c.1638C>T (p.Arg546=)SNV Conflicting interpretations of pathogenicity 500774 rs142408719 12:7362356-7362356 12:7209760-7209760
7 PEX5 NM_001131025.1(PEX5):c.1548C>T (p.Ser516=)SNV Conflicting interpretations of pathogenicity 501263 rs143571888 12:7361754-7361754 12:7209158-7209158
8 PEX5 NM_001131025.1(PEX5):c.1567T>C (p.Leu523=)SNV Conflicting interpretations of pathogenicity 93580 rs144165818 12:7362285-7362285 12:7209689-7209689
9 PEX5 NM_001131025.1(PEX5):c.471C>T (p.Ala157=)SNV Conflicting interpretations of pathogenicity 167461 rs144331955 12:7351629-7351629 12:7199033-7199033
10 PEX5 NM_001131025.1(PEX5):c.1245C>T (p.Asn415=)SNV Conflicting interpretations of pathogenicity 167462 rs138243167 12:7361116-7361116 12:7208520-7208520
11 PEX5 NM_001131025.1(PEX5):c.1413G>C (p.Val471=)SNV Conflicting interpretations of pathogenicity 194355 rs115760878 12:7361619-7361619 12:7209023-7209023
12 PEX5 NM_001131025.1(PEX5):c.1178G>A (p.Arg393Gln)SNV Conflicting interpretations of pathogenicity 281738 rs145690714 12:7360673-7360673 12:7208077-7208077
13 PEX5 NM_001131025.1(PEX5):c.1707C>T (p.Leu569=)SNV Conflicting interpretations of pathogenicity 287034 rs151312595 12:7362425-7362425 12:7209829-7209829
14 PEX5 NM_001131023.1(PEX5):c.649G>C (p.Val217Leu)SNV Conflicting interpretations of pathogenicity 289541 rs149102738 12:7354399-7354399 12:7201803-7201803
15 PEX5 NM_001131025.1(PEX5):c.552-7G>ASNV Conflicting interpretations of pathogenicity 310420 rs189631769 12:7354340-7354340 12:7201744-7201744
16 PEX5 NM_001131025.1(PEX5):c.1521C>T (p.Ala507=)SNV Conflicting interpretations of pathogenicity 310425 rs150761638 12:7361727-7361727 12:7209131-7209131
17 PEX5 NM_001131025.1(PEX5):c.754-4G>ASNV Conflicting interpretations of pathogenicity 310422 rs111286659 12:7355204-7355204 12:7202608-7202608
18 PEX5 NM_001131025.1(PEX5):c.831C>T (p.Ala277=)SNV Conflicting interpretations of pathogenicity 597810 rs747216258 12:7355285-7355285 12:7202689-7202689
19 PEX5 NM_001131025.1(PEX5):c.1559A>G (p.Asn520Ser)SNV Uncertain significance 310427 rs139364109 12:7361765-7361765 12:7209169-7209169
20 PEX5 NM_001131025.1(PEX5):c.1522G>A (p.Val508Met)SNV Uncertain significance 310426 rs138028549 12:7361728-7361728 12:7209132-7209132
21 PEX5 NM_001131025.1(PEX5):c.1814G>A (p.Ser605Asn)SNV Uncertain significance 194614 rs146567534 12:7362713-7362713 12:7210117-7210117
22 covers 45 genes, none of which curated to show dosage sensitivity NC_000012.11:g.(?_6438458)_(7362839_?)dupduplication Uncertain significance 830671 12:6438458-7362839
23 PEX5 NM_001351132.2(PEX5):c.41C>T (p.Ala14Val)SNV Uncertain significance 849259 12:7343014-7343014 12:7190418-7190418
24 PEX5 NM_001351132.2(PEX5):c.83A>G (p.Lys28Arg)SNV Uncertain significance 846108 12:7343056-7343056 12:7190460-7190460
25 PEX5 NM_001351132.2(PEX5):c.155A>G (p.Lys52Arg)SNV Uncertain significance 855999 12:7343491-7343491 12:7190895-7190895
26 PEX5 NM_001351132.2(PEX5):c.517C>A (p.Leu173Met)SNV Uncertain significance 854625 12:7351675-7351675 12:7199079-7199079
27 PEX5 NM_001351132.2(PEX5):c.710G>A (p.Arg237Gln)SNV Uncertain significance 836306 12:7354904-7354904 12:7202308-7202308
28 PEX5 NM_001351132.2(PEX5):c.1419G>T (p.Glu473Asp)SNV Uncertain significance 845512 12:7361625-7361625 12:7209029-7209029
29 PEX5 NM_001351132.2(PEX5):c.1769G>A (p.Arg590Gln)SNV Uncertain significance 861592 12:7362668-7362668 12:7210072-7210072
30 PEX5 NM_001351132.2(PEX5):c.1777C>T (p.Arg593Trp)SNV Uncertain significance 843623 12:7362676-7362676 12:7210080-7210080
31 PEX5 NM_001351132.2(PEX5):c.1837A>G (p.Met613Val)SNV Uncertain significance 858721 12:7362736-7362736 12:7210140-7210140
32 PEX5 NM_001351132.2(PEX5):c.1874C>T (p.Ala625Val)SNV Uncertain significance 851096 12:7362773-7362773 12:7210177-7210177
33 PEX5 NM_001131025.1(PEX5):c.1636C>T (p.Arg546Cys)SNV Uncertain significance 565733 rs759334733 12:7362354-7362354 12:7209758-7209758
34 PEX5 NM_001131025.1(PEX5):c.164G>T (p.Gly55Val)SNV Uncertain significance 569225 rs752097814 12:7343500-7343500 12:7190904-7190904
35 PEX5 NM_001131025.1(PEX5):c.1897A>C (p.Thr633Pro)SNV Uncertain significance 593551 rs200471952 12:7362796-7362796 12:7210200-7210200
36 PEX5 NM_001131025.1(PEX5):c.316+3G>ASNV Uncertain significance 594066 rs200776790 12:7343957-7343957 12:7191361-7191361
37 PEX5 NM_001131025.1(PEX5):c.1439G>A (p.Arg480Gln)SNV Uncertain significance 596979 rs759523235 12:7361645-7361645 12:7209049-7209049
38 PEX5 NM_001131025.1(PEX5):c.680T>C (p.Val227Ala)SNV Uncertain significance 445968 rs777842778 12:7354874-7354874 12:7202278-7202278
39 PEX5 NM_001131025.1(PEX5):c.496C>G (p.Gln166Glu)SNV Uncertain significance 449585 rs751043763 12:7351654-7351654 12:7199058-7199058
40 PEX5 NM_001351132.2(PEX5):c.1869C>T (p.Ala623=)SNV Likely benign 731761 12:7362768-7362768 12:7210172-7210172
41 PEX5 NM_001351132.2(PEX5):c.63C>T (p.Ala21=)SNV Likely benign 742982 12:7343036-7343036 12:7190440-7190440
42 PEX5 NM_001351132.2(PEX5):c.705G>A (p.Ser235=)SNV Likely benign 739698 12:7354899-7354899 12:7202303-7202303
43 PEX5 NM_001351132.2(PEX5):c.148-7C>TSNV Likely benign 737026 12:7343477-7343477 12:7190881-7190881
44 PEX5 NM_001351132.2(PEX5):c.147+77_147+121delshort repeat Likely benign 768511 12:7343109-7343153 12:7190513-7190557
45 PEX5 NM_001351132.2(PEX5):c.1059T>C (p.Asn353=)SNV Likely benign 791005 12:7360347-7360347 12:7207751-7207751
46 PEX5 NM_001351132.2(PEX5):c.1053G>A (p.Leu351=)SNV Benign/Likely benign 770225 12:7360341-7360341 12:7207745-7207745
47 PEX5 NM_001351132.2(PEX5):c.998G>A (p.Arg333His)SNV Benign 779711 12:7360286-7360286 12:7207690-7207690
48 PEX5 NM_001131023.1(PEX5):c.860T>C (p.Met287Thr)SNV Benign 235376 rs76708142 12:7355269-7355269 12:7202673-7202673
49 PEX5 NM_001131025.1(PEX5):c.1632G>A (p.Ala544=)SNV Benign 257546 rs115338343 12:7362350-7362350 12:7209754-7209754
50 PEX5 NM_001351132.2(PEX5):c.658C>T (p.Arg220Trp)SNV Benign 727789 12:7354852-7354852 12:7202256-7202256

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
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11 DGIdb
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