PBD11A
MCID: PRX055
MIFTS: 36

Peroxisome Biogenesis Disorder 11a (PBD11A)

Categories: Ear 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 11a

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 11a:

Name: Peroxisome Biogenesis Disorder 11a 57 12 72 29 13 6 15 70
Pbd11a 57 72
Peroxisome Biogenesis Disorder, Complementation Group 13 70
Peroxisome Biogenesis Disorder Complementation Group 13 72
Peroxisome Biogenesis Disorder Complementation Group H 72
Peroxisome Biogenesis Disorder, Type 11a 39
Pbd-Cg13 72
Pbd-Cgh 72
Cg13 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
peroxisome biogenesis disorder 11a:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 11a

UniProtKB/Swiss-Prot : 72 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 peroxisome biogenesis disorder 1a, 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 HIF Repressor Pathways. Affiliated tissues include eye and liver, and related phenotypes are failure to thrive and large face

Disease Ontology : 12 A peroxisomal biogenesis disorder that has material basis in homozygous mutation in the PEX13 gene on chromosome 2p15.

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) (Updated 05-Apr-2021)

Related Diseases for Peroxisome Biogenesis Disorder 11a

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 11a

Human phenotypes related to Peroxisome Biogenesis Disorder 11a:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 large face 31 HP:0100729
3 global developmental delay 31 HP:0001263
4 depressed nasal bridge 31 HP:0005280
5 anteverted nares 31 HP:0000463
6 elevated hepatic transaminase 31 HP:0002910
7 multiple renal cysts 31 HP:0005562
8 apnea 31 HP:0002104
9 high forehead 31 HP:0000348
10 large fontanelles 31 HP:0000239
11 triangular face 31 HP:0000325
12 wide anterior fontanel 31 HP:0000260
13 polymicrogyria 31 HP:0002126
14 severe muscular hypotonia 31 HP:0006829
15 lissencephaly 31 HP:0001339
16 renal cyst 31 HP:0000107
17 decreased liver function 31 HP:0001410
18 infantile muscular hypotonia 31 HP:0008947
19 cns hypomyelination 31 HP:0003429
20 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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:

40
Eye, Liver

Publications for Peroxisome Biogenesis Disorder 11a

Articles related to Peroxisome Biogenesis Disorder 11a:

# Title Authors PMID Year
1
Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations. 57 6
19449432 2009
2
Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders. 6 57
10332040 1999
3
Peroxisome biogenesis disorders. 57
17055079 2006
4
Attitudes to Palliative Care in Patients With Neck-of-Femur Fracture-A Multicenter Survey. 61
32328339 2020
5
Comparison of probe hybridization array typing to multilocus sequence typing for pathogenic Escherichia coli. 61
19144816 2009
6
Aquisalimonas asiatica gen. nov., sp. nov., a moderately halophilic bacterium isolated from an alkaline, saline lake in Inner Mongolia, China. 61
17473272 2007
7
Isolation of a full-length mitotic cyclin cDNA clone CycIIIMs from Medicago sativa: chromosomal mapping and expression. 61
7766889 1995
8
Direct assignment of the dihydrouridine-helix imino proton resonances in transfer ribonucleic acid nuclear magnetic resonance spectra by means of the nuclear Overhauser effect. 61
6282322 1982

Variations for Peroxisome Biogenesis Disorder 11a

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 11a:

6 (show top 50) (show all 155)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PEX13 NM_002618.4(PEX13):c.702G>A (p.Trp234Ter) SNV Pathogenic 7703 rs104893661 GRCh37: 2:61259163-61259163
GRCh38: 2:61032028-61032028
2 PEX13 PEX13, 147-KB DEL Deletion Pathogenic 30226 GRCh37:
GRCh38:
3 PEX13 PEX13, 14-BP DEL, EXON 2 Deletion Pathogenic 30227 GRCh37:
GRCh38:
4 PEX13 NM_002618.4(PEX13):c.586C>T (p.Gln196Ter) SNV Pathogenic 573201 rs1559035738 GRCh37: 2:61259047-61259047
GRCh38: 2:61031912-61031912
5 PEX13 NM_002618.4(PEX13):c.465T>G (p.Tyr155Ter) SNV Pathogenic 582828 rs369851185 GRCh37: 2:61258926-61258926
GRCh38: 2:61031791-61031791
6 PEX13 NM_002618.4(PEX13):c.508C>T (p.Arg170Ter) SNV Pathogenic 575270 rs553968959 GRCh37: 2:61258969-61258969
GRCh38: 2:61031834-61031834
7 PEX13 NM_002618.4(PEX13):c.893T>C (p.Met298Thr) SNV Conflicting interpretations of pathogenicity 196352 rs138545154 GRCh37: 2:61272966-61272966
GRCh38: 2:61045831-61045831
8 PEX13 NM_002618.4(PEX13):c.856G>A (p.Val286Ile) SNV Conflicting interpretations of pathogenicity 336669 rs201699810 GRCh37: 2:61272929-61272929
GRCh38: 2:61045794-61045794
9 PEX13 NM_002618.4(PEX13):c.355G>A (p.Val119Ile) SNV Conflicting interpretations of pathogenicity 336667 rs147707348 GRCh37: 2:61258816-61258816
GRCh38: 2:61031681-61031681
10 PEX13 , PUS10 NM_002618.4(PEX13):c.32C>A (p.Pro11His) SNV Uncertain significance 593168 rs564528921 GRCh37: 2:61244926-61244926
GRCh38: 2:61017791-61017791
11 PEX13 NM_002618.4(PEX13):c.589C>T (p.Arg197Trp) SNV Uncertain significance 999729 GRCh37: 2:61259050-61259050
GRCh38: 2:61031915-61031915
12 PEX13 NM_002618.4(PEX13):c.905C>G (p.Ala302Gly) SNV Uncertain significance 1001667 GRCh37: 2:61272978-61272978
GRCh38: 2:61045843-61045843
13 PEX13 NM_002618.4(PEX13):c.566G>A (p.Arg189Gln) SNV Uncertain significance 1001791 GRCh37: 2:61259027-61259027
GRCh38: 2:61031892-61031892
14 PEX13 NM_002618.4(PEX13):c.205A>T (p.Asn69Tyr) SNV Uncertain significance 1003682 GRCh37: 2:61258666-61258666
GRCh38: 2:61031531-61031531
15 PEX13 NM_002618.4(PEX13):c.1071C>G (p.Asn357Lys) SNV Uncertain significance 1007290 GRCh37: 2:61275764-61275764
GRCh38: 2:61048629-61048629
16 PEX13 NM_002618.4(PEX13):c.1183G>A (p.Gly395Arg) SNV Uncertain significance 1008985 GRCh37: 2:61275876-61275876
GRCh38: 2:61048741-61048741
17 PEX13 NM_002618.4(PEX13):c.871A>G (p.Ile291Val) SNV Uncertain significance 502800 rs1444535263 GRCh37: 2:61272944-61272944
GRCh38: 2:61045809-61045809
18 PEX13 NM_002618.4(PEX13):c.961C>G (p.Gln321Glu) SNV Uncertain significance 1010285 GRCh37: 2:61275654-61275654
GRCh38: 2:61048519-61048519
19 PEX13 NM_002618.4(PEX13):c.880C>T (p.Arg294Trp) SNV Uncertain significance 287094 rs373118250 GRCh37: 2:61272953-61272953
GRCh38: 2:61045818-61045818
20 PEX13 NM_002618.4(PEX13):c.260A>G (p.Asn87Ser) SNV Uncertain significance 336664 rs367843599 GRCh37: 2:61258721-61258721
GRCh38: 2:61031586-61031586
21 PEX13 NM_002618.4(PEX13):c.1093A>G (p.Thr365Ala) SNV Uncertain significance 834375 GRCh37: 2:61275786-61275786
GRCh38: 2:61048651-61048651
22 PEX13 NM_002618.4(PEX13):c.847T>G (p.Phe283Val) SNV Uncertain significance 848171 GRCh37: 2:61272920-61272920
GRCh38: 2:61045785-61045785
23 PEX13 NM_002618.4(PEX13):c.791G>C (p.Ser264Thr) SNV Uncertain significance 196351 rs145568490 GRCh37: 2:61272864-61272864
GRCh38: 2:61045729-61045729
24 PEX13 , PUS10 NM_002618.4(PEX13):c.32C>T (p.Pro11Leu) SNV Uncertain significance 336662 rs564528921 GRCh37: 2:61244926-61244926
GRCh38: 2:61017791-61017791
25 PEX13 NM_002618.4(PEX13):c.1042G>C (p.Val348Leu) SNV Uncertain significance 951647 GRCh37: 2:61275735-61275735
GRCh38: 2:61048600-61048600
26 PEX13 NM_002618.4(PEX13):c.580C>T (p.Arg194Trp) SNV Uncertain significance 957323 GRCh37: 2:61259041-61259041
GRCh38: 2:61031906-61031906
27 PEX13 NM_002618.4(PEX13):c.1058A>G (p.Gln353Arg) SNV Uncertain significance 970801 GRCh37: 2:61275751-61275751
GRCh38: 2:61048616-61048616
28 PEX13 NM_002618.4(PEX13):c.620A>C (p.Asn207Thr) SNV Uncertain significance 1022319 GRCh37: 2:61259081-61259081
GRCh38: 2:61031946-61031946
29 PEX13 NM_002618.4(PEX13):c.802G>A (p.Ala268Thr) SNV Uncertain significance 1023698 GRCh37: 2:61272875-61272875
GRCh38: 2:61045740-61045740
30 PEX13 NM_002618.4(PEX13):c.142C>T (p.Leu48Phe) SNV Uncertain significance 289192 rs60203778 GRCh37: 2:61258603-61258603
GRCh38: 2:61031468-61031468
31 PEX13 NM_002618.4(PEX13):c.845A>G (p.Asp282Gly) SNV Uncertain significance 856898 GRCh37: 2:61272918-61272918
GRCh38: 2:61045783-61045783
32 PEX13 , PUS10 NM_002618.4(PEX13):c.14C>T (p.Pro5Leu) SNV Uncertain significance 862694 GRCh37: 2:61244908-61244908
GRCh38: 2:61017773-61017773
33 PEX13 NM_002618.4(PEX13):c.939G>A (p.Trp313Ter) SNV Uncertain significance 963417 GRCh37: 2:61275632-61275632
GRCh38: 2:61048497-61048497
34 PEX13 NM_002618.4(PEX13):c.508C>A (p.Arg170=) SNV Uncertain significance 964050 GRCh37: 2:61258969-61258969
GRCh38: 2:61031834-61031834
35 PEX13 NM_002618.4(PEX13):c.932G>A (p.Arg311His) SNV Uncertain significance 895452 GRCh37: 2:61275625-61275625
GRCh38: 2:61048490-61048490
36 PEX13 NM_002618.4(PEX13):c.1027G>A (p.Val343Met) SNV Uncertain significance 1035786 GRCh37: 2:61275720-61275720
GRCh38: 2:61048585-61048585
37 PEX13 NM_002618.4(PEX13):c.1127C>A (p.Ala376Asp) SNV Uncertain significance 1037423 GRCh37: 2:61275820-61275820
GRCh38: 2:61048685-61048685
38 PEX13 NM_002618.4(PEX13):c.611G>A (p.Gly204Asp) SNV Uncertain significance 594431 rs752948360 GRCh37: 2:61259072-61259072
GRCh38: 2:61031937-61031937
39 PEX13 , PUS10 NM_002618.4(PEX13):c.86C>G (p.Thr29Ser) SNV Uncertain significance 1040499 GRCh37: 2:61244980-61244980
GRCh38: 2:61017845-61017845
40 PEX13 NM_002618.4(PEX13):c.712T>G (p.Leu238Val) SNV Uncertain significance 1040656 GRCh37: 2:61259173-61259173
GRCh38: 2:61032038-61032038
41 PEX13 NM_002618.4(PEX13):c.431G>T (p.Ser144Ile) SNV Uncertain significance 1042553 GRCh37: 2:61258892-61258892
GRCh38: 2:61031757-61031757
42 PEX13 NM_002618.4(PEX13):c.103T>A (p.Leu35Met) SNV Uncertain significance 1047652 GRCh37: 2:61258564-61258564
GRCh38: 2:61031429-61031429
43 PEX13 NM_002618.4(PEX13):c.1163C>T (p.Pro388Leu) SNV Uncertain significance 501846 rs1203618499 GRCh37: 2:61275856-61275856
GRCh38: 2:61048721-61048721
44 PEX13 NM_002618.4(PEX13):c.275G>A (p.Gly92Asp) SNV Uncertain significance 501358 rs745620818 GRCh37: 2:61258736-61258736
GRCh38: 2:61031601-61031601
45 PEX13 NM_002618.4(PEX13):c.*1961T>C SNV Uncertain significance 336697 rs771587917 GRCh37: 2:61277866-61277866
GRCh38: 2:61050731-61050731
46 PEX13 NM_002618.4(PEX13):c.*1564C>G SNV Uncertain significance 336691 rs886056203 GRCh37: 2:61277469-61277469
GRCh38: 2:61050334-61050334
47 PEX13 NM_002618.4(PEX13):c.1180A>T (p.Ile394Phe) SNV Uncertain significance 575720 rs376560254 GRCh37: 2:61275873-61275873
GRCh38: 2:61048738-61048738
48 PEX13 NM_002618.4(PEX13):c.478G>C (p.Ala160Pro) SNV Uncertain significance 581276 rs1559035602 GRCh37: 2:61258939-61258939
GRCh38: 2:61031804-61031804
49 PEX13 NM_002618.4(PEX13):c.464A>G (p.Tyr155Cys) SNV Uncertain significance 581277 rs1298522041 GRCh37: 2:61258925-61258925
GRCh38: 2:61031790-61031790
50 PEX13 , PUS10 NM_002618.4(PEX13):c.89T>C (p.Phe30Ser) SNV Uncertain significance 500639 rs771610641 GRCh37: 2:61244983-61244983
GRCh38: 2:61017848-61017848

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
Show member pathways
10.18 XPO1 COMMD1

GO Terms for Peroxisome Biogenesis Disorder 11a

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

# Name GO ID Score Top Affiliating Genes
1 regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032434 8.62 XPO1 COMMD1

Sources for Peroxisome Biogenesis Disorder 11a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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