MCID: PRX055
MIFTS: 32

Peroxisome Biogenesis Disorder 11a

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 11a

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 11a:

Name: Peroxisome Biogenesis Disorder 11a 57 75 29 13 6 73
Pbd11a 57 75
Peroxisome Biogenesis Disorder, Complementation Group 13 73
Peroxisome Biogenesis Disorder Complementation Group 13 75
Peroxisome Biogenesis Disorder Complementation Group H 75
Peroxisome Biogenesis Disorder, Type 11a 40
Pbd-Cg13 75
Pbd-Cgh 75
Cg13 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
peroxisome biogenesis disorder 11a:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 11a

UniProtKB/Swiss-Prot : 75 Peroxisome biogenesis disorder 11A: 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 13: 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 11a, also known as pbd11a, is related to peroxisome biogenesis disorder 11b and deafness enamel hypoplasia nail defects, and has symptoms including seizures An important gene associated with Peroxisome Biogenesis Disorder 11a is PEX13 (Peroxisomal Biogenesis Factor 13), and among its related pathways/superpathways is Peroxisome. Affiliated tissues include liver and eye, and related phenotypes are seizures and failure to thrive

OMIM : 57 Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. 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 13 (CG13, equivalent to CGH) have mutations in the PEX13 gene. For information on the history of PBD complementation groups, see 214100. (614883)

Related Diseases for Peroxisome Biogenesis Disorder 11a

Graphical network of the top 20 diseases related to Peroxisome Biogenesis Disorder 11a:



Diseases related to Peroxisome Biogenesis Disorder 11a

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 11a

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
global developmental delay
polymicrogyria
lissencephaly
poor myelination
more
Genitourinary Kidneys:
multiple renal cysts

Head And Neck Head:
large anterior fontanel

Muscle Soft Tissue:
hypotonia, severe

Abdomen Liver:
hepatic dysfunction, progressive

Head And Neck Nose:
depressed nasal bridge
anteverted nostrils

Head And Neck Face:
high forehead
large, triangular face

Laboratory Abnormalities:
elevated liver enzymes
elevated hexacosanoic acid
elevated ratios of tetracosanoic and hexacosanoic acid to docosanoic acid in plasma
'ghost' peroxisomes in fibroblasts seen on immunofluorescence microscopy

Growth Other:
failure to thrive, severe


Clinical features from OMIM:

614883

Human phenotypes related to Peroxisome Biogenesis Disorder 11a:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 failure to thrive 32 HP:0001508
3 large face 32 HP:0100729
4 global developmental delay 32 HP:0001263
5 depressed nasal bridge 32 HP:0005280
6 anteverted nares 32 HP:0000463
7 decreased liver function 32 HP:0001410
8 elevated hepatic transaminases 32 HP:0002910
9 apnea 32 HP:0002104
10 multiple renal cysts 32 HP:0005562
11 high forehead 32 HP:0000348
12 wide anterior fontanel 32 HP:0000260
13 large fontanelles 32 HP:0000239
14 triangular face 32 HP:0000325
15 polymicrogyria 32 HP:0002126
16 lissencephaly 32 HP:0001339
17 renal cyst 32 HP:0000107
18 cns hypomyelination 32 HP:0003429
19 severe muscular hypotonia 32 HP:0006829
20 infantile muscular hypotonia 32 HP:0008947

UMLS symptoms related to Peroxisome Biogenesis Disorder 11a:


seizures

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 11a

Search Clinical Trials , NIH Clinical Center for Peroxisome Biogenesis Disorder 11a

Genetic Tests for Peroxisome Biogenesis Disorder 11a

Genetic tests related to Peroxisome Biogenesis Disorder 11a:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorder 11a 29 PEX13

Anatomical Context for Peroxisome Biogenesis Disorder 11a

MalaCards organs/tissues related to Peroxisome Biogenesis Disorder 11a:

41
Liver, Eye

Publications for Peroxisome Biogenesis Disorder 11a

Variations for Peroxisome Biogenesis Disorder 11a

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 11a:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX13 NM_002618.3(PEX13): c.702G> A (p.Trp234Ter) single nucleotide variant Pathogenic rs104893661 GRCh37 Chromosome 2, 61259163: 61259163
2 PEX13 NM_002618.3(PEX13): c.702G> A (p.Trp234Ter) single nucleotide variant Pathogenic rs104893661 GRCh38 Chromosome 2, 61032028: 61032028
3 PEX13 PEX13, 147-KB DEL deletion Pathogenic
4 PEX13 PEX13, 14-BP DEL, EXON 2 deletion Pathogenic
5 PEX1 NM_000466.2(PEX1): c.2916delA (p.Gly973Alafs) deletion Pathogenic/Likely pathogenic rs61750426 GRCh37 Chromosome 7, 92123811: 92123811
6 PEX1 NM_000466.2(PEX1): c.2916delA (p.Gly973Alafs) deletion Pathogenic/Likely pathogenic rs61750426 GRCh38 Chromosome 7, 92494497: 92494497
7 PEX13 NM_002618.3(PEX13): c.1078C> G (p.Leu360Val) single nucleotide variant Conflicting interpretations of pathogenicity rs74350038 GRCh38 Chromosome 2, 61048636: 61048636
8 PEX13 NM_002618.3(PEX13): c.1078C> G (p.Leu360Val) single nucleotide variant Conflicting interpretations of pathogenicity rs74350038 GRCh37 Chromosome 2, 61275771: 61275771
9 PEX13 NM_002618.3(PEX13): c.383G> T (p.Gly128Val) single nucleotide variant Uncertain significance rs554152771 GRCh37 Chromosome 2, 61258844: 61258844
10 PEX13 NM_002618.3(PEX13): c.383G> T (p.Gly128Val) single nucleotide variant Uncertain significance rs554152771 GRCh38 Chromosome 2, 61031709: 61031709

Expression for Peroxisome Biogenesis Disorder 11a

Search GEO for disease gene expression data for Peroxisome Biogenesis Disorder 11a.

Pathways for Peroxisome Biogenesis Disorder 11a

Pathways related to Peroxisome Biogenesis Disorder 11a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.54 PEX1 PEX13

GO Terms for Peroxisome Biogenesis Disorder 11a

Cellular components related to Peroxisome Biogenesis Disorder 11a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peroxisome GO:0005777 8.96 PEX1 PEX13
2 peroxisomal membrane GO:0005778 8.62 PEX1 PEX13

Biological processes related to Peroxisome Biogenesis Disorder 11a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule-based peroxisome localization GO:0060152 8.62 PEX1 PEX13

Sources for Peroxisome Biogenesis Disorder 11a

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
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
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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