MCID: PRX058
MIFTS: 22

Peroxisome Biogenesis Disorder 4b

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 4b

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 4b:

Name: Peroxisome Biogenesis Disorder 4b 57 75 29 13 6 73
Pbd4b 57 75
Peroxisome Biogenesis Disorder, Type 4b 40

Characteristics:

OMIM:

57
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:

32
peroxisome biogenesis disorder 4b:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 4b

OMIM : 57 Peroxisome biogenesis disorder-4B (PDB4B) 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 ataxia, seizures 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Peroxisome Biogenesis Disorder 4b:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 hypertelorism 32 HP:0000316
3 nystagmus 32 HP:0000639
4 intellectual disability 32 HP:0001249
5 seizures 32 HP:0001250
6 ataxia 32 HP:0001251
7 global developmental delay 32 HP:0001263
8 hepatomegaly 32 HP:0002240
9 short nose 32 HP:0003196
10 sensorineural hearing impairment 32 HP:0000407
11 visual impairment 32 HP:0000505
12 optic atrophy 32 HP:0000648
13 neonatal hypotonia 32 HP:0001319
14 decreased nerve conduction velocity 32 HP:0000762
15 single transverse palmar crease 32 HP:0000954
16 rod-cone dystrophy 32 HP:0000510
17 generalized hypotonia 32 HP:0001290
18 ureterocele 32 HP:0000070

UMLS symptoms related to Peroxisome Biogenesis Disorder 4b:


ataxia, seizures, 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 29 PEX6

Anatomical Context for Peroxisome Biogenesis Disorder 4b

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

41
Liver

Publications for Peroxisome Biogenesis Disorder 4b

Variations for Peroxisome Biogenesis Disorder 4b

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 4b:

6
(show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX6 NM_000287.3(PEX6): c.619_882del264 (p.Val207_Gln294del) deletion Pathogenic GRCh38 Chromosome 6, 42978269: 42978532
2 PEX6 NM_000287.3(PEX6): c.619_882del264 (p.Val207_Gln294del) deletion Pathogenic 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.1314_1321delGGAGGCCT (p.Glu439Glyfs) deletion Pathogenic rs267608216 GRCh38 Chromosome 6, 42969714: 42969721
7 PEX6 NM_000287.3(PEX6): c.1314_1321delGGAGGCCT (p.Glu439Glyfs) deletion Pathogenic rs267608216 GRCh37 Chromosome 6, 42937452: 42937459
8 PEX6 NM_000287.3(PEX6): c.2578C> T (p.Arg860Trp) single nucleotide variant Pathogenic rs61753230 GRCh38 Chromosome 6, 42965262: 42965262
9 PEX6 NM_000287.3(PEX6): c.2578C> T (p.Arg860Trp) single nucleotide variant Pathogenic rs61753230 GRCh37 Chromosome 6, 42933000: 42933000
10 PEX6 NM_000287.3(PEX6): c.1368G> A (p.Gly456=) single nucleotide variant Uncertain significance rs763725671 GRCh37 Chromosome 6, 42936723: 42936723
11 PEX6 NM_000287.3(PEX6): c.1368G> A (p.Gly456=) single nucleotide variant Uncertain significance rs763725671 GRCh38 Chromosome 6, 42968985: 42968985

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

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
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44 MeSH
45 MESH via Orphanet
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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
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