MCID: PRX057
MIFTS: 24

Peroxisome Biogenesis Disorder 4a

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 4a

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 4a:

Name: Peroxisome Biogenesis Disorder 4a 57 75 29 13 6 73
Pbd4a 57 75
Peroxisome Biogenesis Disorder Complementation Group 4 75
Peroxisome Biogenesis Disorder Complementation Group 6 75
Peroxisome Biogenesis Disorder Complementation Group C 75
Peroxisome Biogenesis Disorder, Type 4a 40
Pbd-Cg6 75
Pbd-Cgc 75
Pbd-Cg4 75
Cg4 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
peroxisome biogenesis disorder 4a:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 4a

UniProtKB/Swiss-Prot : 75 Peroxisome biogenesis disorder 4A: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. Peroxisome biogenesis disorder complementation group 4: A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).

MalaCards based summary : Peroxisome Biogenesis Disorder 4a, also known as pbd4a, is related to peroxisome biogenesis disorder 4b. An important gene associated with Peroxisome Biogenesis Disorder 4a is PEX6 (Peroxisomal Biogenesis Factor 6). Affiliated tissues include liver and eye, and related phenotypes are hypertelorism and seizures

OMIM : 57 The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 4 (CG4, equivalent to CG6 and CGC) have mutations in the PEX6 gene. For information on the history of PBD complementation groups, see 214100. (614862)

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 4a

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
epicanthus inversus
upslanting palpebral fissures

Head And Neck Nose:
low nasal bridge

Skeletal Limbs:
abnormal calcific stippling of patellae

Neurologic Central Nervous System:
clonic convulsions

Abdomen Liver:
hepatomegaly

Respiratory:
severe asphyxia
respiratory failure (leading to death at 7 months)

Muscle Soft Tissue:
hypotonia, profound

Laboratory Abnormalities:
elevated serum very long chain fatty acids (vlcfa)
absence of peroxisomes
zellweger complementation group c
zellweger complementation group 4


Clinical features from OMIM:

614862

Human phenotypes related to Peroxisome Biogenesis Disorder 4a:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 seizures 32 HP:0001250
3 hepatomegaly 32 HP:0002240
4 depressed nasal bridge 32 HP:0005280
5 feeding difficulties in infancy 32 HP:0008872
6 epiphyseal stippling 32 HP:0010655
7 respiratory failure 32 HP:0002878
8 upslanted palpebral fissure 32 HP:0000582
9 renal cyst 32 HP:0000107
10 generalized neonatal hypotonia 32 HP:0008935
11 generalized hypotonia 32 HP:0001290
12 epicanthus inversus 32 HP:0000537

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 4a

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

Genetic Tests for Peroxisome Biogenesis Disorder 4a

Genetic tests related to Peroxisome Biogenesis Disorder 4a:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorder 4a (zellweger) 29 PEX6

Anatomical Context for Peroxisome Biogenesis Disorder 4a

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

41
Liver, Eye

Publications for Peroxisome Biogenesis Disorder 4a

Variations for Peroxisome Biogenesis Disorder 4a

UniProtKB/Swiss-Prot genetic disease variations for Peroxisome Biogenesis Disorder 4a:

75
# Symbol AA change Variation ID SNP ID
1 PEX6 p.Arg812Gln VAR_007918 rs61753229
2 PEX6 p.Arg812Trp VAR_007919 rs61753228
3 PEX6 p.Asn849Thr VAR_058384 rs267608244
4 PEX6 p.Arg860Gln VAR_058385 rs61753231
5 PEX6 p.Arg860Trp VAR_058386 rs61753230
6 PEX6 p.Leu534Pro VAR_075872 rs387906809
7 PEX6 p.Gly413Val VAR_077508

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 4a:

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX6 PEX6, 1-BP DEL, 1301C deletion Pathogenic
2 PEX6 PEX6, IVSAS, G-A, -1, 8-BP DEL deletion Pathogenic
3 PEX6 PEX6, 20-BP DEL/1-BP INS indel Pathogenic
4 PEX6 PEX6, 1-BP INS, NT511 insertion Pathogenic
5 PEX6 PEX6, IVS3DS, G-A, +1 single nucleotide variant Pathogenic
6 PEX6 PEX6, IVS7, G-A, +1 single nucleotide variant Pathogenic
7 PEX6 NM_000287.3(PEX6): c.1338_1339delTG (p.Ala447Cysfs) deletion Pathogenic rs398123303 GRCh37 Chromosome 6, 42937434: 42937435
8 PEX6 NM_000287.3(PEX6): c.1338_1339delTG (p.Ala447Cysfs) deletion Pathogenic rs398123303 GRCh38 Chromosome 6, 42969696: 42969697
9 PEX6 NM_000287.3(PEX6): c.689_690dupAG (p.Ser232Hisfs) duplication Pathogenic rs398123305 GRCh37 Chromosome 6, 42946199: 42946200
10 PEX6 NM_000287.3(PEX6): c.689_690dupAG (p.Ser232Hisfs) duplication Pathogenic rs398123305 GRCh38 Chromosome 6, 42978461: 42978462
11 PEX6 NM_000287.3(PEX6): c.2440C> T (p.Arg814Ter) single nucleotide variant Pathogenic rs267608241 GRCh37 Chromosome 6, 42933450: 42933450
12 PEX6 NM_000287.3(PEX6): c.2440C> T (p.Arg814Ter) single nucleotide variant Pathogenic rs267608241 GRCh38 Chromosome 6, 42965712: 42965712
13 PEX6 NM_000287.3(PEX6): c.1314_1321delGGAGGCCT (p.Glu439Glyfs) deletion Pathogenic rs267608216 GRCh38 Chromosome 6, 42969714: 42969721
14 PEX6 NM_000287.3(PEX6): c.1314_1321delGGAGGCCT (p.Glu439Glyfs) deletion Pathogenic rs267608216 GRCh37 Chromosome 6, 42937452: 42937459
15 PEX6 NM_000287.3(PEX6): c.684dupC (p.Arg229Glnfs) duplication Pathogenic rs886043908 GRCh37 Chromosome 6, 42946205: 42946205
16 PEX6 NM_000287.3(PEX6): c.684dupC (p.Arg229Glnfs) duplication Pathogenic rs886043908 GRCh38 Chromosome 6, 42978467: 42978467
17 PEX6 NM_000287.3(PEX6): c.1202T> A (p.Leu401Ter) single nucleotide variant Pathogenic rs886044436 GRCh37 Chromosome 6, 42937654: 42937654
18 PEX6 NM_000287.3(PEX6): c.1202T> A (p.Leu401Ter) single nucleotide variant Pathogenic rs886044436 GRCh38 Chromosome 6, 42969916: 42969916

Expression for Peroxisome Biogenesis Disorder 4a

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

Pathways for Peroxisome Biogenesis Disorder 4a

GO Terms for Peroxisome Biogenesis Disorder 4a

Sources for Peroxisome Biogenesis Disorder 4a

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74 UMLS via Orphanet
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