PBD4B
MCID: PRX058
MIFTS: 23

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

Aliases & Classifications for Peroxisome Biogenesis Disorder 4b

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 recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 4b

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 liver, 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.

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 4b

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

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 4b

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

Genetic Tests for Peroxisome Biogenesis Disorder 4b

Genetic tests related to Peroxisome Biogenesis Disorder 4b:

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

Anatomical Context for Peroxisome Biogenesis Disorder 4b

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

42
Liver

Publications for Peroxisome Biogenesis Disorder 4b

Variations for Peroxisome Biogenesis Disorder 4b

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 4b:

6 (show top 50) (show all 109)
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX6 NM_000287.3(PEX6): c.2440C> T (p.Arg814Ter) single nucleotide variant Pathogenic/Likely pathogenic rs267608241 GRCh37 Chromosome 6, 42933450: 42933450
2 PEX6 NM_000287.3(PEX6): c.2440C> T (p.Arg814Ter) single nucleotide variant Pathogenic/Likely pathogenic rs267608241 GRCh38 Chromosome 6, 42965712: 42965712
3 PEX6 NM_000287.3(PEX6): c.1802G> A (p.Arg601Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs34324426 GRCh37 Chromosome 6, 42935188: 42935188
4 PEX6 NM_000287.3(PEX6): c.1802G> A (p.Arg601Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs34324426 GRCh38 Chromosome 6, 42967450: 42967450
5 PEX6 NM_000287.3(PEX6): c.821C> T (p.Pro274Leu) single nucleotide variant Pathogenic/Likely pathogenic rs61753219 GRCh37 Chromosome 6, 42946068: 42946068
6 PEX6 NM_000287.3(PEX6): c.821C> T (p.Pro274Leu) single nucleotide variant Pathogenic/Likely pathogenic rs61753219 GRCh38 Chromosome 6, 42978330: 42978330
7 PEX6 NM_000287.3(PEX6): c.1841delT (p.Leu614Argfs) deletion Likely pathogenic rs863225083 GRCh37 Chromosome 6, 42935149: 42935149
8 PEX6 NM_000287.3(PEX6): c.1841delT (p.Leu614Argfs) deletion Likely pathogenic rs863225083 GRCh38 Chromosome 6, 42967411: 42967411
9 PEX6 NM_000287.3(PEX6): c.619_882del264 (p.Val207_Gln294del) deletion Pathogenic rs1554128347 GRCh38 Chromosome 6, 42978269: 42978532
10 PEX6 NM_000287.3(PEX6): c.619_882del264 (p.Val207_Gln294del) deletion Pathogenic rs1554128347 GRCh37 Chromosome 6, 42946007: 42946270
11 PEX6 PEX6, 269-BP DEL/21-BP INS indel Pathogenic
12 PEX6 NM_000287.3(PEX6): c.1601T> C (p.Leu534Pro) single nucleotide variant Pathogenic rs387906809 GRCh37 Chromosome 6, 42936115: 42936115
13 PEX6 NM_000287.3(PEX6): c.1601T> C (p.Leu534Pro) single nucleotide variant Pathogenic rs387906809 GRCh38 Chromosome 6, 42968377: 42968377
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.718G> A (p.Ala240Thr) single nucleotide variant Uncertain significance rs886061412 GRCh37 Chromosome 6, 42946171: 42946171
21 PEX6 NM_000287.3(PEX6): c.718G> A (p.Ala240Thr) single nucleotide variant Uncertain significance rs886061412 GRCh38 Chromosome 6, 42978433: 42978433
22 PEX6 NM_000287.3(PEX6): c.295C> T (p.Arg99Trp) single nucleotide variant Uncertain significance rs772383329 GRCh37 Chromosome 6, 42946594: 42946594
23 PEX6 NM_000287.3(PEX6): c.295C> T (p.Arg99Trp) single nucleotide variant Uncertain significance rs772383329 GRCh38 Chromosome 6, 42978856: 42978856
24 PEX6 NM_000287.3(PEX6): c.2578C> T (p.Arg860Trp) single nucleotide variant Pathogenic rs61753230 GRCh38 Chromosome 6, 42965262: 42965262
25 PEX6 NM_000287.3(PEX6): c.2578C> T (p.Arg860Trp) single nucleotide variant Pathogenic rs61753230 GRCh37 Chromosome 6, 42933000: 42933000
26 PEX6 NM_000287.3(PEX6): c.1947delG (p.Ile650Serfs) deletion Pathogenic rs267608227 GRCh38 Chromosome 6, 42966796: 42966796
27 PEX6 NM_000287.3(PEX6): c.1947delG (p.Ile650Serfs) deletion Pathogenic rs267608227 GRCh37 Chromosome 6, 42934534: 42934534
28 PEX6 NM_000287.3(PEX6): c.273G> A (p.Trp91Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1010184002 GRCh37 Chromosome 6, 42946616: 42946616
29 PEX6 NM_000287.3(PEX6): c.273G> A (p.Trp91Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1010184002 GRCh38 Chromosome 6, 42978878: 42978878
30 PEX6 NM_000287.3(PEX6): c.311delG (p.Gly104Valfs) deletion Pathogenic/Likely pathogenic rs61753209 GRCh37 Chromosome 6, 42946578: 42946578
31 PEX6 NM_000287.3(PEX6): c.311delG (p.Gly104Valfs) deletion Pathogenic/Likely pathogenic rs61753209 GRCh38 Chromosome 6, 42978840: 42978840
32 PEX6 NM_000287.3(PEX6): c.659G> T (p.Gly220Val) single nucleotide variant Uncertain significance rs267608203 GRCh38 Chromosome 6, 42978492: 42978492
33 PEX6 NM_000287.3(PEX6): c.659G> T (p.Gly220Val) single nucleotide variant Uncertain significance rs267608203 GRCh37 Chromosome 6, 42946230: 42946230
34 PEX6 NM_000287.3(PEX6): c.2806+1G> A single nucleotide variant Likely pathogenic rs751900826 GRCh37 Chromosome 6, 42932527: 42932527
35 PEX6 NM_000287.3(PEX6): c.2806+1G> A single nucleotide variant Likely pathogenic rs751900826 GRCh38 Chromosome 6, 42964789: 42964789
36 PEX6 NM_000287.3(PEX6): c.2692delC (p.Leu898Trpfs) deletion Likely pathogenic rs1554126798 GRCh37 Chromosome 6, 42932641: 42932642
37 PEX6 NM_000287.3(PEX6): c.2692delC (p.Leu898Trpfs) deletion Likely pathogenic rs1554126798 GRCh38 Chromosome 6, 42964904: 42964904
38 PEX6 NM_000287.3(PEX6): c.2626C> T (p.Arg876Trp) single nucleotide variant Uncertain significance rs267608246 GRCh37 Chromosome 6, 42932853: 42932853
39 PEX6 NM_000287.3(PEX6): c.2626C> T (p.Arg876Trp) single nucleotide variant Uncertain significance rs267608246 GRCh38 Chromosome 6, 42965115: 42965115
40 PEX6 NM_000287.3(PEX6): c.2362G> A (p.Val788Met) single nucleotide variant Likely pathogenic rs267608240 GRCh37 Chromosome 6, 42933782: 42933782
41 PEX6 NM_000287.3(PEX6): c.2362G> A (p.Val788Met) single nucleotide variant Likely pathogenic rs267608240 GRCh38 Chromosome 6, 42966044: 42966044
42 PEX6 NM_000287.3(PEX6): c.2356C> T (p.Arg786Trp) single nucleotide variant Uncertain significance rs267608239 GRCh37 Chromosome 6, 42933788: 42933788
43 PEX6 NM_000287.3(PEX6): c.2356C> T (p.Arg786Trp) single nucleotide variant Uncertain significance rs267608239 GRCh38 Chromosome 6, 42966050: 42966050
44 PEX6 NM_000287.3(PEX6): c.1446_1448delTGC (p.Ala483del) deletion Uncertain significance rs1554127389 GRCh37 Chromosome 6, 42936642: 42936645
45 PEX6 NM_000287.3(PEX6): c.1446_1448delTGC (p.Ala483del) deletion Uncertain significance rs1554127389 GRCh38 Chromosome 6, 42968905: 42968907
46 PEX6 NM_000287.3(PEX6): c.1234-1G> T single nucleotide variant Likely pathogenic rs1554127533 GRCh37 Chromosome 6, 42937540: 42937540
47 PEX6 NM_000287.3(PEX6): c.1234-1G> T single nucleotide variant Likely pathogenic rs1554127533 GRCh38 Chromosome 6, 42969802: 42969802
48 PEX6 NM_000287.3(PEX6): c.1130+2T> C single nucleotide variant Likely pathogenic rs1416001981 GRCh37 Chromosome 6, 42941739: 42941739
49 PEX6 NM_000287.3(PEX6): c.1130+2T> C single nucleotide variant Likely pathogenic rs1416001981 GRCh38 Chromosome 6, 42974001: 42974001
50 PEX6 NM_000287.3(PEX6): c.551_553delCCT (p.Ser184del) deletion Uncertain significance rs1554128446 GRCh37 Chromosome 6, 42946335: 42946338

Expression for Peroxisome Biogenesis Disorder 4b

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

Pathways for Peroxisome Biogenesis Disorder 4b

GO Terms for Peroxisome Biogenesis Disorder 4b

Sources for Peroxisome Biogenesis Disorder 4b

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