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PBD4B
MCID: PRX058
MIFTS: 25

Peroxisome Biogenesis Disorder 4b (PBD4B)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Publications Symptoms & Phenotypes
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Aliases & Classifications for Peroxisome Biogenesis Disorder 4b

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MalaCards integrated aliases for Peroxisome Biogenesis Disorder 4b:

Name: Peroxisome Biogenesis Disorder 4b 58 76 30 13 6 74
Pbd4b 58 76
Peroxisome Biogenesis Disorder, Type 4b 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
appropriate development until 6 months of age
progressive disease leading to death at age 4
autosomal dominant inheritance occurs with a heterozygous mutation in pex6 in conjunction with a 3-prime utr polymorphism in cis causing allelic expression imbalance (aei)


HPO:

33
peroxisome biogenesis disorder 4b:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases
Anatomical: Eye diseases Neuronal diseases Liver diseases Endocrine diseases Mental diseases Nephrological diseases
See all MalaCards categories (disease lists)


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Summaries for Peroxisome Biogenesis Disorder 4b

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OMIM : 58 Peroxisome biogenesis disorder-4B (PBD4B) includes the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). 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 PEX6 gene have cells of complementation group 4 (CG4, equivalent to CG6 and CGC). For information on the history of PBD complementation groups, see 214100. (614863)

MalaCards based summary : Peroxisome Biogenesis Disorder 4b, is also known as pbd4b, and has symptoms including seizures, ataxia and recurrent fevers. An important gene associated with Peroxisome Biogenesis Disorder 4b is PEX6 (Peroxisomal Biogenesis Factor 6). Affiliated tissues include eye, and related phenotypes are macrocephaly and hypertelorism

UniProtKB/Swiss-Prot : 76 Peroxisome biogenesis disorder 4B: 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.

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Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 4b

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Human phenotypes related to Peroxisome Biogenesis Disorder 4b:

33 (show all 20)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 HP:0000256
2 hypertelorism 33 HP:0000316
3 nystagmus 33 HP:0000639
4 intellectual disability 33 HP:0001249
5 seizures 33 HP:0001250
6 ataxia 33 HP:0001251
7 gait disturbance 33 HP:0001288
8 global developmental delay 33 HP:0001263
9 hepatomegaly 33 HP:0002240
10 short nose 33 HP:0003196
11 sensorineural hearing impairment 33 HP:0000407
12 visual impairment 33 HP:0000505
13 optic atrophy 33 HP:0000648
14 neonatal hypotonia 33 HP:0001319
15 decreased liver function 33 HP:0001410
16 decreased nerve conduction velocity 33 HP:0000762
17 rod-cone dystrophy 33 HP:0000510
18 generalized hypotonia 33 HP:0001290
19 single transverse palmar crease 33 HP:0000954
20 ureterocele 33 HP:0000070

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
nystagmus
retinitis pigmentosa
optic atrophy, bilateral

Head And Neck Ears:
hearing loss

Metabolic Features:
recurrent fever

Abdomen Liver:
liver dysfunction
hepatomegaly, mild

Laboratory Abnormalities:
low serum albumin
elevated spinal fluid protein
elevated very long chain fatty acids (vlcfas) in serum and fibroblasts
random serum acth of 100 units
catalase import deficiency

Genitourinary Ureters:
ureterocele, bilateral

Endocrine Features:
adrenal insufficiency (in 1 patient)

Neurologic Central Nervous System:
intellectual disability
seizures
ataxia
developmental delay
hypotonia
more
Head And Neck Nose:
small nose

Head And Neck Head:
large head
widely open fontanels

Growth Other:
growth retardation, postnatal

Genitourinary Kidneys:
oxalate stone, unilateral

Skin Nails Hair Skin:
single transverse palmar crease, bilateral

Clinical features from OMIM:

614863

UMLS symptoms related to Peroxisome Biogenesis Disorder 4b:


seizures, ataxia, recurrent fevers
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Drugs & Therapeutics for Peroxisome Biogenesis Disorder 4b

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Search Clinical Trials , NIH Clinical Center for Peroxisome Biogenesis Disorder 4b

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Genetic Tests for Peroxisome Biogenesis Disorder 4b

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Genetic tests related to Peroxisome Biogenesis Disorder 4b:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorder 4b 30 PEX6
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Anatomical Context for Peroxisome Biogenesis Disorder 4b

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MalaCards organs/tissues related to Peroxisome Biogenesis Disorder 4b:

42
Eye
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Publications for Peroxisome Biogenesis Disorder 4b

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Articles related to Peroxisome Biogenesis Disorder 4b:

# Title Authors Year
1
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. ( 29220678 )
2017
2
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. ( 21937992 )
2011
3
The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6. ( 11355018 )
2001
4
Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. ( 3515938 )
1986
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Variations for Peroxisome Biogenesis Disorder 4b

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ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 4b:

6 (show top 50) (show all 111)
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX6 NM_000287.3(PEX6): c.619_882del264 (p.Val207_Gln294del) deletion Pathogenic rs1554128347 GRCh38 Chromosome 6, 42978269: 42978532
2 PEX6 NM_000287.3(PEX6): c.619_882del264 (p.Val207_Gln294del) deletion Pathogenic rs1554128347 GRCh37 Chromosome 6, 42946007: 42946270
3 PEX6 PEX6, 269-BP DEL/21-BP INS indel Pathogenic
4 PEX6 NM_000287.3(PEX6): c.1601T> C (p.Leu534Pro) single nucleotide variant Pathogenic rs387906809 GRCh37 Chromosome 6, 42936115: 42936115
5 PEX6 NM_000287.3(PEX6): c.1601T> C (p.Leu534Pro) single nucleotide variant Pathogenic rs387906809 GRCh38 Chromosome 6, 42968377: 42968377
6 PEX6 NM_000287.3(PEX6): c.2440C> T (p.Arg814Ter) single nucleotide variant Pathogenic/Likely pathogenic rs267608241 GRCh37 Chromosome 6, 42933450: 42933450
7 PEX6 NM_000287.3(PEX6): c.2440C> T (p.Arg814Ter) single nucleotide variant Pathogenic/Likely pathogenic rs267608241 GRCh38 Chromosome 6, 42965712: 42965712
8 PEX6 NM_000287.3(PEX6): c.1802G> A (p.Arg601Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs34324426 GRCh37 Chromosome 6, 42935188: 42935188
9 PEX6 NM_000287.3(PEX6): c.1802G> A (p.Arg601Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs34324426 GRCh38 Chromosome 6, 42967450: 42967450
10 PEX6 NM_000287.3(PEX6): c.821C> T (p.Pro274Leu) single nucleotide variant Pathogenic/Likely pathogenic rs61753219 GRCh37 Chromosome 6, 42946068: 42946068
11 PEX6 NM_000287.3(PEX6): c.821C> T (p.Pro274Leu) single nucleotide variant Pathogenic/Likely pathogenic rs61753219 GRCh38 Chromosome 6, 42978330: 42978330
12 PEX6 NM_000287.3(PEX6): c.1841delT (p.Leu614Argfs) deletion Likely pathogenic rs863225083 GRCh37 Chromosome 6, 42935149: 42935149
13 PEX6 NM_000287.3(PEX6): c.1841delT (p.Leu614Argfs) deletion Likely pathogenic rs863225083 GRCh38 Chromosome 6, 42967411: 42967411
14 PEX6 NM_000287.3(PEX6): c.1314_1321delGGAGGCCT (p.Glu439Glyfs) deletion Pathogenic rs267608216 GRCh38 Chromosome 6, 42969714: 42969721
15 PEX6 NM_000287.3(PEX6): c.1314_1321delGGAGGCCT (p.Glu439Glyfs) deletion Pathogenic rs267608216 GRCh37 Chromosome 6, 42937452: 42937459
16 PEX6 NM_000287.3(PEX6): c.654C> G (p.Phe218Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs886037779 GRCh38 Chromosome 6, 42978497: 42978497
17 PEX6 NM_000287.3(PEX6): c.654C> G (p.Phe218Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs886037779 GRCh37 Chromosome 6, 42946235: 42946235
18 PEX6 NM_000287.3(PEX6): c.2730G> A (p.Thr910=) single nucleotide variant Likely benign rs774721609 GRCh38 Chromosome 6, 42964866: 42964866
19 PEX6 NM_000287.3(PEX6): c.2730G> A (p.Thr910=) single nucleotide variant Likely benign rs774721609 GRCh37 Chromosome 6, 42932604: 42932604
20 PEX6 NM_000287.3(PEX6): c.719C> G (p.Ala240Gly) single nucleotide variant Uncertain significance rs372269200 GRCh37 Chromosome 6, 42946170: 42946170
21 PEX6 NM_000287.3(PEX6): c.719C> G (p.Ala240Gly) single nucleotide variant Uncertain significance rs372269200 GRCh38 Chromosome 6, 42978432: 42978432
22 PEX6 NM_000287.3(PEX6): c.718G> A (p.Ala240Thr) single nucleotide variant Uncertain significance rs886061412 GRCh37 Chromosome 6, 42946171: 42946171
23 PEX6 NM_000287.3(PEX6): c.718G> A (p.Ala240Thr) single nucleotide variant Uncertain significance rs886061412 GRCh38 Chromosome 6, 42978433: 42978433
24 PEX6 NM_000287.3(PEX6): c.295C> T (p.Arg99Trp) single nucleotide variant Uncertain significance rs772383329 GRCh37 Chromosome 6, 42946594: 42946594
25 PEX6 NM_000287.3(PEX6): c.295C> T (p.Arg99Trp) single nucleotide variant Uncertain significance rs772383329 GRCh38 Chromosome 6, 42978856: 42978856
26 PEX6 NM_000287.3(PEX6): c.2578C> T (p.Arg860Trp) single nucleotide variant Pathogenic rs61753230 GRCh38 Chromosome 6, 42965262: 42965262
27 PEX6 NM_000287.3(PEX6): c.2578C> T (p.Arg860Trp) single nucleotide variant Pathogenic rs61753230 GRCh37 Chromosome 6, 42933000: 42933000
28 PEX6 NM_000287.3(PEX6): c.1947delG (p.Ile650Serfs) deletion Pathogenic rs267608227 GRCh38 Chromosome 6, 42966796: 42966796
29 PEX6 NM_000287.3(PEX6): c.1947delG (p.Ile650Serfs) deletion Pathogenic rs267608227 GRCh37 Chromosome 6, 42934534: 42934534
30 PEX6 NM_000287.3(PEX6): c.273G> A (p.Trp91Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1010184002 GRCh37 Chromosome 6, 42946616: 42946616
31 PEX6 NM_000287.3(PEX6): c.273G> A (p.Trp91Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1010184002 GRCh38 Chromosome 6, 42978878: 42978878
32 PEX6 NM_000287.3(PEX6): c.311delG (p.Gly104Valfs) deletion Pathogenic/Likely pathogenic rs61753209 GRCh37 Chromosome 6, 42946578: 42946578
33 PEX6 NM_000287.3(PEX6): c.311delG (p.Gly104Valfs) deletion Pathogenic/Likely pathogenic rs61753209 GRCh38 Chromosome 6, 42978840: 42978840
34 PEX6 NM_000287.3(PEX6): c.659G> T (p.Gly220Val) single nucleotide variant Uncertain significance rs267608203 GRCh38 Chromosome 6, 42978492: 42978492
35 PEX6 NM_000287.3(PEX6): c.659G> T (p.Gly220Val) single nucleotide variant Uncertain significance rs267608203 GRCh37 Chromosome 6, 42946230: 42946230
36 PEX6 NM_000287.3(PEX6): c.2806+1G> A single nucleotide variant Likely pathogenic rs751900826 GRCh37 Chromosome 6, 42932527: 42932527
37 PEX6 NM_000287.3(PEX6): c.2806+1G> A single nucleotide variant Likely pathogenic rs751900826 GRCh38 Chromosome 6, 42964789: 42964789
38 PEX6 NM_000287.3(PEX6): c.2692delC (p.Leu898Trpfs) deletion Likely pathogenic rs1554126798 GRCh37 Chromosome 6, 42932641: 42932642
39 PEX6 NM_000287.3(PEX6): c.2692delC (p.Leu898Trpfs) deletion Likely pathogenic rs1554126798 GRCh38 Chromosome 6, 42964904: 42964904
40 PEX6 NM_000287.3(PEX6): c.2626C> T (p.Arg876Trp) single nucleotide variant Uncertain significance rs267608246 GRCh37 Chromosome 6, 42932853: 42932853
41 PEX6 NM_000287.3(PEX6): c.2626C> T (p.Arg876Trp) single nucleotide variant Uncertain significance rs267608246 GRCh38 Chromosome 6, 42965115: 42965115
42 PEX6 NM_000287.3(PEX6): c.2362G> A (p.Val788Met) single nucleotide variant Likely pathogenic rs267608240 GRCh37 Chromosome 6, 42933782: 42933782
43 PEX6 NM_000287.3(PEX6): c.2362G> A (p.Val788Met) single nucleotide variant Likely pathogenic rs267608240 GRCh38 Chromosome 6, 42966044: 42966044
44 PEX6 NM_000287.3(PEX6): c.2356C> T (p.Arg786Trp) single nucleotide variant Uncertain significance rs267608239 GRCh37 Chromosome 6, 42933788: 42933788
45 PEX6 NM_000287.3(PEX6): c.2356C> T (p.Arg786Trp) single nucleotide variant Uncertain significance rs267608239 GRCh38 Chromosome 6, 42966050: 42966050
46 PEX6 NM_000287.3(PEX6): c.1446_1448delTGC (p.Ala483del) deletion Uncertain significance rs1554127389 GRCh37 Chromosome 6, 42936642: 42936645
47 PEX6 NM_000287.3(PEX6): c.1446_1448delTGC (p.Ala483del) deletion Uncertain significance rs1554127389 GRCh38 Chromosome 6, 42968905: 42968907
48 PEX6 NM_000287.3(PEX6): c.1234-1G> T single nucleotide variant Likely pathogenic rs1554127533 GRCh37 Chromosome 6, 42937540: 42937540
49 PEX6 NM_000287.3(PEX6): c.1234-1G> T single nucleotide variant Likely pathogenic rs1554127533 GRCh38 Chromosome 6, 42969802: 42969802
50 PEX6 NM_000287.3(PEX6): c.1130+2T> C single nucleotide variant Likely pathogenic rs1416001981 GRCh37 Chromosome 6, 42941739: 42941739
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Expression for Peroxisome Biogenesis Disorder 4b

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Search GEO for disease gene expression data for Peroxisome Biogenesis Disorder 4b.
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Pathways for Peroxisome Biogenesis Disorder 4b

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GO Terms for Peroxisome Biogenesis Disorder 4b

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Sources for Peroxisome Biogenesis Disorder 4b

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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