PBD2B
MCID: PRX064
MIFTS: 26

Peroxisome Biogenesis Disorder 2b (PBD2B)

Categories: Ear 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 12 73 13 6 71
Pbd2b 57 73
Peroxisome Biogenesis Disorder, Type 2b 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
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) (Updated 05-Mar-2021)

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 bone, and related phenotypes are intellectual disability and frontal bossing

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 frontal bossing 31 HP:0002007
3 high palate 31 HP:0000218
4 wide nasal bridge 31 HP:0000431
5 abnormal facial shape 31 HP:0001999
6 anteverted nares 31 HP:0000463
7 prominent forehead 31 HP:0011220
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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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
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. 57 6
7719337 1995
2
Genetics and molecular basis of human peroxisome biogenesis disorders. 57
22871920 2012
3
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 top 50) (show all 80)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PEX5 NM_001131025.1(PEX5):c.361G>T (p.Glu121Ter) SNV Pathogenic 620217 rs1565673352 12:7344209-7344209 12:7191613-7191613
2 PEX5 NM_001351132.2(PEX5):c.358C>T (p.Gln120Ter) SNV Pathogenic 939195 12:7344206-7344206 12:7191610-7191610
3 PEX5 NM_001351132.2(PEX5):c.709C>T (p.Arg237Ter) SNV Pathogenic 943437 12:7354903-7354903 12:7202307-7202307
4 PEX5 NM_001131025.1(PEX5):c.1578T>G (p.Asn526Lys) SNV Pathogenic 9143 rs61752138 12:7362296-7362296 12:7209700-7209700
5 PEX5 NM_001351132.2(PEX5):c.147+77_147+121del Microsatellite Conflicting interpretations of pathogenicity 768511 12:7343109-7343153 12:7190513-7190557
6 PEX5 NM_001351132.2(PEX5):c.710G>A (p.Arg237Gln) SNV Uncertain significance 836306 12:7354904-7354904 12:7202308-7202308
7 PEX5 NM_001351132.2(PEX5):c.1777C>T (p.Arg593Trp) SNV Uncertain significance 843623 12:7362676-7362676 12:7210080-7210080
8 PEX5 NM_001351132.2(PEX5):c.1419G>T (p.Glu473Asp) SNV Uncertain significance 845512 12:7361625-7361625 12:7209029-7209029
9 PEX5 NM_001351132.2(PEX5):c.83A>G (p.Lys28Arg) SNV Uncertain significance 846108 12:7343056-7343056 12:7190460-7190460
10 PEX5 NM_001351132.2(PEX5):c.41C>T (p.Ala14Val) SNV Uncertain significance 849259 12:7343014-7343014 12:7190418-7190418
11 PEX5 NM_001351132.2(PEX5):c.1874C>T (p.Ala625Val) SNV Uncertain significance 851096 12:7362773-7362773 12:7210177-7210177
12 PEX5 NM_001351132.2(PEX5):c.517C>A (p.Leu173Met) SNV Uncertain significance 854625 12:7351675-7351675 12:7199079-7199079
13 PEX5 NM_001351132.2(PEX5):c.155A>G (p.Lys52Arg) SNV Uncertain significance 855999 12:7343491-7343491 12:7190895-7190895
14 PEX5 NM_001351132.2(PEX5):c.1837A>G (p.Met613Val) SNV Uncertain significance 858721 12:7362736-7362736 12:7210140-7210140
15 PEX5 NM_001351132.2(PEX5):c.1769G>A (p.Arg590Gln) SNV Uncertain significance 861592 12:7362668-7362668 12:7210072-7210072
16 PEX5 NM_001351132.2(PEX5):c.1913C>G (p.Pro638Arg) SNV Uncertain significance 938540 12:7362812-7362812 12:7210216-7210216
17 PEX5 NM_001351132.2(PEX5):c.552-9C>A SNV Uncertain significance 939182 12:7354338-7354338 12:7201742-7201742
18 PEX5 NM_001351132.2(PEX5):c.550T>C (p.Trp184Arg) SNV Uncertain significance 943627 12:7351708-7351708 12:7199112-7199112
19 PEX5 NM_001351132.2(PEX5):c.848C>T (p.Ser283Phe) SNV Uncertain significance 953900 12:7356029-7356029 12:7203433-7203433
20 PEX5 NM_001351132.2(PEX5):c.404A>T (p.Tyr135Phe) SNV Uncertain significance 957477 12:7344252-7344252 12:7191656-7191656
21 PEX5 NM_001351132.2(PEX5):c.610A>G (p.Lys204Glu) SNV Uncertain significance 958415 12:7354405-7354405 12:7201809-7201809
22 PEX5 NM_001351132.2(PEX5):c.1265C>T (p.Ala422Val) SNV Uncertain significance 958505 12:7361136-7361136 12:7208540-7208540
23 PEX5 NM_001351132.2(PEX5):c.1097C>T (p.Pro366Leu) SNV Uncertain significance 959865 12:7360385-7360385 12:7207789-7207789
24 PEX5 NM_001351132.2(PEX5):c.642+6C>T SNV Uncertain significance 960162 12:7354443-7354443 12:7201847-7201847
25 PEX5 NM_001351132.2(PEX5):c.689A>C (p.Glu230Ala) SNV Uncertain significance 963780 12:7354883-7354883 12:7202287-7202287
26 PEX5 NM_001351132.2(PEX5):c.1768C>T (p.Arg590Trp) SNV Uncertain significance 964842 12:7362667-7362667 12:7210071-7210071
27 PEX5 NM_001351132.2(PEX5):c.991C>T (p.Pro331Ser) SNV Uncertain significance 966985 12:7360279-7360279 12:7207683-7207683
28 PEX5 NM_001351132.2(PEX5):c.1858T>C (p.Tyr620His) SNV Uncertain significance 970117 12:7362757-7362757 12:7210161-7210161
29 PEX5 NM_001351132.2(PEX5):c.1280G>T (p.Arg427Leu) SNV Uncertain significance 971496 12:7361151-7361151 12:7208555-7208555
30 PEX5 NM_001351132.2(PEX5):c.1333G>C (p.Glu445Gln) SNV Uncertain significance 971979 12:7361204-7361204 12:7208608-7208608
31 PEX5 NM_001131025.1(PEX5):c.316+3G>A SNV Uncertain significance 594066 rs200776790 12:7343957-7343957 12:7191361-7191361
32 PEX5 NM_001131025.1(PEX5):c.1439G>A (p.Arg480Gln) SNV Uncertain significance 596979 rs759523235 12:7361645-7361645 12:7209049-7209049
33 PEX5 NM_001131025.1(PEX5):c.1897A>C (p.Thr633Pro) SNV Uncertain significance 593551 rs200471952 12:7362796-7362796 12:7210200-7210200
34 PEX5 NM_001131025.1(PEX5):c.680T>C (p.Val227Ala) SNV Uncertain significance 445968 rs777842778 12:7354874-7354874 12:7202278-7202278
35 PEX5 NM_001131025.1(PEX5):c.1814G>A (p.Ser605Asn) SNV Uncertain significance 194614 rs146567534 12:7362713-7362713 12:7210117-7210117
36 PEX5 NM_001131025.1(PEX5):c.1636C>T (p.Arg546Cys) SNV Uncertain significance 565733 rs759334733 12:7362354-7362354 12:7209758-7209758
37 PEX5 NM_001131025.1(PEX5):c.1292G>A (p.Arg431Gln) SNV Uncertain significance 593511 rs144901507 12:7361163-7361163 12:7208567-7208567
38 PEX5 NM_001131025.1(PEX5):c.596G>A (p.Ser199Asn) SNV Uncertain significance 598256 rs750906889 12:7354391-7354391 12:7201795-7201795
39 PEX5 NM_001131025.1(PEX5):c.1814G>A (p.Ser605Asn) SNV Uncertain significance 194614 rs146567534 12:7362713-7362713 12:7210117-7210117
40 PEX5 NM_001131025.1(PEX5):c.1559A>G (p.Asn520Ser) SNV Uncertain significance 310427 rs139364109 12:7361765-7361765 12:7209169-7209169
41 PEX5 NM_001131025.1(PEX5):c.1522G>A (p.Val508Met) SNV Uncertain significance 310426 rs138028549 12:7361728-7361728 12:7209132-7209132
42 PEX5 NM_001131025.1(PEX5):c.496C>G (p.Gln166Glu) SNV Uncertain significance 449585 rs751043763 12:7351654-7351654 12:7199058-7199058
43 PEX5 NM_001131025.1(PEX5):c.1902G>A (p.Met634Ile) SNV Uncertain significance 310435 rs145886418 12:7362801-7362801 12:7210205-7210205
44 PEX5 NM_001131025.1(PEX5):c.966+3G>A SNV Uncertain significance 235440 rs373763823 12:7356150-7356150 12:7203554-7203554
45 PEX5 NM_001351132.2(PEX5):c.1033C>T (p.Arg345Cys) SNV Uncertain significance 883208 12:7360321-7360321 12:7207725-7207725
46 PEX5 NM_001131025.1(PEX5):c.590C>T (p.Thr197Met) SNV Uncertain significance 283813 rs144897942 12:7354385-7354385 12:7201789-7201789
47 PEX5 NM_001131025.1(PEX5):c.371C>G (p.Ala124Gly) SNV Uncertain significance 289833 rs143307183 12:7344219-7344219 12:7191623-7191623
48 PEX5 NM_001131025.1(PEX5):c.452C>G (p.Pro151Arg) SNV Uncertain significance 597182 rs200720523 12:7351610-7351610 12:7199014-7199014
49 PEX5 NM_001131025.2(PEX5):c.230G>A SNV Uncertain significance 498328 rs780957318 12:7343868-7343868 12:7191272-7191272
50 PEX5 NM_001131025.2(PEX5):c.533G>A SNV Uncertain significance 310418 rs749729761 12:7351691-7351691 12:7199095-7199095

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

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