PBD10A
MCID: PRX048
MIFTS: 31

Peroxisome Biogenesis Disorder 10a (PBD10A)

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 10a

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 10a:

Name: Peroxisome Biogenesis Disorder 10a 57 12 72 29 13 6 70
Pbd10a 57 72
Peroxisome Biogenesis Disorder, Complementation Group 12 70
Peroxisome Biogenesis Disorder Complementation Group 12 72
Peroxisome Biogenesis Disorder Complementation Group G 72
Peroxisome Biogenesis Disorder, Type 10a 39
Pbd-Cg12 72
Pbd-Cgg 72
Cg12 72

Characteristics:

OMIM®:

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

Miscellaneous:
peroxisome biogenesis disorder complementation group 12, cg12
peroxisome biogenesis disorder complementation group g, cgg
clinical details based on report of 2 patients (last curated february 2017)


HPO:

31
peroxisome biogenesis disorder 10a:
Onset and clinical course death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 10a

UniProtKB/Swiss-Prot : 72 Peroxisome biogenesis disorder 10A: 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 12: 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 10a, is also known as pbd10a. An important gene associated with Peroxisome Biogenesis Disorder 10a is PEX3 (Peroxisomal Biogenesis Factor 3). Affiliated tissues include eye, heart and liver, and related phenotypes are high palate and cataract

Disease Ontology : 12 A peroxisomal biogenesis disorder that has material basis in homozygous mutation in the PEX3 gene on chromosome 6q24.

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 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see 214100. (614882) (Updated 05-Apr-2021)

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 10a

Human phenotypes related to Peroxisome Biogenesis Disorder 10a:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 high palate 31 HP:0000218
2 cataract 31 HP:0000518
3 hepatomegaly 31 HP:0002240
4 hypertelorism 31 HP:0000316
5 epiphyseal stippling 31 HP:0010655
6 micrognathia 31 HP:0000347
7 epicanthus 31 HP:0000286
8 downslanted palpebral fissures 31 HP:0000494
9 areflexia 31 HP:0001284
10 broad forehead 31 HP:0000337
11 high forehead 31 HP:0000348
12 decreased fetal movement 31 HP:0001558
13 severe global developmental delay 31 HP:0011344
14 feeding difficulties 31 HP:0011968
15 prominent nose 31 HP:0000448
16 generalized neonatal hypotonia 31 HP:0008935
17 generalized hypotonia 31 HP:0001290
18 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
prominent epicanthic folds
corneal haze without cataract

Prenatal Manifestations Movement:
decreased fetal movement

Muscle Soft Tissue:
hypotonia

Neurologic Peripheral Nervous System:
absent deep tendon reflexes

Abdomen Liver:
enlarged liver
no peroxisomes

Cardiovascular Heart:
multiple congenital heart defects

Laboratory Abnormalities:
no peroxisomes
elevated very long chain fatty acids
decreased pristanic acid beta-oxidation
decreased alkyl dhap synthase
decreased dhap-at

Head And Neck Face:
micrognathia
prominent midface

Head And Neck Nose:
prominent nose

Head And Neck Mouth:
high-arched palate

Neurologic Central Nervous System:
focal microgyria
seizures, controlled by medication
abnormalities of inferior olivary nucleus

Head And Neck Ears:
abnormal ears

Chest Ribs Sternum Clavicles And Scapulae:
irregular costochondral ossification

Skeletal Skull:
widely patent metopic and sagittal sutures

Clinical features from OMIM®:

614882 (Updated 05-Apr-2021)

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 10a

Search Clinical Trials , NIH Clinical Center for Peroxisome Biogenesis Disorder 10a

Genetic Tests for Peroxisome Biogenesis Disorder 10a

Genetic tests related to Peroxisome Biogenesis Disorder 10a:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorder 10a 29 PEX3

Anatomical Context for Peroxisome Biogenesis Disorder 10a

MalaCards organs/tissues related to Peroxisome Biogenesis Disorder 10a:

40
Eye, Heart, Liver, Colon

Publications for Peroxisome Biogenesis Disorder 10a

Articles related to Peroxisome Biogenesis Disorder 10a:

(show all 29)
# Title Authors PMID Year
1
Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G. 57 6
10958759 2000
2
Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group. 57 6
7562283 1995
3
Peroxisome biogenesis disorders. 57
17055079 2006
4
PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G. 6
10968777 2000
5
Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures. 6
10942428 2000
6
Multivariate principal component analysis to evaluate growth performances in Malabari goats of India. 61
32323053 2020
7
Cell remodeling and subtilase gene expression in the actinorhizal plant Discaria trinervis highlight host orchestration of intercellular Frankia colonization. 61
29790172 2018
8
Salinity induced lipid production in microalgae and cluster analysis (ICCB 16-BR_047). 61
28390788 2017
9
Bioactive/Natural Polymeric Scaffolds Loaded with Ciprofloxacin for Treatment of Osteomyelitis. 61
27520562 2017
10
Symbiotic Performance of Diverse Frankia Strains on Salt-Stressed Casuarina glauca and Casuarina equisetifolia Plants. 61
27630656 2016
11
Aquisalimonas lutea sp. nov., a moderately halophilic bacterium from a saltern. 61
25667394 2015
12
Aquisalimonas halophila sp. nov., a moderately halophilic bacterium isolated from a hypersaline mine. 61
24699066 2014
13
First Report of Wheat mosaic virus Infecting Wheat in Western Australia. 61
30708758 2014
14
Does the introduction of a COPD pro-forma improve the standards of care delivered by junior doctors in the emergency department. 61
20486819 2010
15
Energy restriction as an antitumor target of thiazolidinediones. 61
20093366 2010
16
Thiazolidinediones mimic glucose starvation in facilitating Sp1 degradation through the up-regulation of beta-transducin repeat-containing protein. 61
19372209 2009
17
Deletion hotspots in AMACR promoter CpG island are cis-regulatory elements controlling the gene expression in the colon. 61
19148275 2009
18
Aquisalimonas asiatica gen. nov., sp. nov., a moderately halophilic bacterium isolated from an alkaline, saline lake in Inner Mongolia, China. 61
17473272 2007
19
Infection-related activation of the cg12 promoter is conserved between actinorhizal and legume-rhizobia root nodule symbiosis. 61
15466224 2004
20
Multilocus sequence typing of Candida glabrata reveals geographically enriched clades. 61
14662965 2003
21
cg12 expression is specifically linked to infection of root hairs and cortical cells during Casuarina glauca and Allocasuarina verticillata actinorhizal nodule development. 61
12848425 2003
22
The apolipoprotein L gene cluster has emerged recently in evolution and is expressed in human vascular tissue. 61
11944986 2002
23
Characterization of a Casuarina glauca nodule-specific subtilisin-like protease gene, a homolog of Alnus glutinosa ag12. 61
10656592 2000
24
Conformational variation of the central CG site in d(ATGACGTCAT)2 and d(GAAAACGTTTTC)2. An NMR, molecular modelling and 3D-homology investigation. 61
10215889 1999
25
Development and verification of fingerprinting probes for Candida glabrata. 61
9421899 1997
26
Morphological heterogeneity and phenotype modifications during long term in vitro cultures of six new human glioblastoma cell lines. 61
2330609 1990
27
Phenotyping of 60 cultured human gliomas and 34 other neuroectodermal tumors by means of monoclonal antibodies against glioma, melanoma and HLA-DR antigens. 61
2985398 1985
28
Reactivity of antiglioma monoclonal antibodies for a large panel of cultured gliomas and other neuroectoderm derived tumors. 61
6830147 1983
29
Human glioma-associated antigens detected by monoclonal antibodies. 61
7459861 1981

Variations for Peroxisome Biogenesis Disorder 10a

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 10a:

6 (show all 50)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PEX3 PEX3, 1-BP INS, 543T Insertion Pathogenic 6618 GRCh37:
GRCh38:
2 PEX3 NM_003630.3(PEX3):c.292_302del (p.Ser98fs) Deletion Pathogenic 973435 GRCh37: 6:143789261-143789271
GRCh38: 6:143468124-143468134
3 PEX3 NM_003630.3(PEX3):c.942-8T>G SNV Pathogenic 631556 rs267608193 GRCh37: 6:143806281-143806281
GRCh38: 6:143485144-143485144
4 PEX3 NM_003630.3(PEX3):c.165A>G (p.Gln55=) SNV Uncertain significance 195197 rs41285015 GRCh37: 6:143780313-143780313
GRCh38: 6:143459176-143459176
5 PEX3 NM_003630.3(PEX3):c.473C>G (p.Pro158Arg) SNV Uncertain significance 291279 rs199781957 GRCh37: 6:143792536-143792536
GRCh38: 6:143471399-143471399
6 PEX3 NM_003630.3(PEX3):c.*220G>A SNV Uncertain significance 355579 rs117247312 GRCh37: 6:143810583-143810583
GRCh38: 6:143489446-143489446
7 PEX3 NM_003630.3(PEX3):c.578+8A>G SNV Uncertain significance 289544 rs200807211 GRCh37: 6:143792756-143792756
GRCh38: 6:143471619-143471619
8 PEX3 NM_003630.3(PEX3):c.899G>A (p.Arg300Gln) SNV Uncertain significance 501431 rs200463608 GRCh37: 6:143800293-143800293
GRCh38: 6:143479156-143479156
9 PEX3 NM_003630.3(PEX3):c.1048A>C (p.Thr350Pro) SNV Uncertain significance 1029734 GRCh37: 6:143810289-143810289
GRCh38: 6:143489152-143489152
10 PEX3 NM_003630.3(PEX3):c.249A>G (p.Gln83=) SNV Uncertain significance 355576 rs139760270 GRCh37: 6:143784096-143784096
GRCh38: 6:143462959-143462959
11 PEX3 NM_003630.3(PEX3):c.*1074A>G SNV Uncertain significance 355591 rs553070296 GRCh37: 6:143811437-143811437
GRCh38: 6:143490300-143490300
12 PEX3 NM_003630.3(PEX3):c.96T>C (p.Tyr32=) SNV Uncertain significance 355574 rs201718910 GRCh37: 6:143780244-143780244
GRCh38: 6:143459107-143459107
13 PEX3 NM_003630.3(PEX3):c.*1305C>T SNV Uncertain significance 355592 rs886061137 GRCh37: 6:143811668-143811668
GRCh38: 6:143490531-143490531
14 PEX3 NM_003630.3(PEX3):c.*573A>G SNV Uncertain significance 355586 rs886061135 GRCh37: 6:143810936-143810936
GRCh38: 6:143489799-143489799
15 PEX3 NM_003630.3(PEX3):c.887C>T (p.Ala296Val) SNV Uncertain significance 355577 rs886061132 GRCh37: 6:143800281-143800281
GRCh38: 6:143479144-143479144
16 PEX3 NM_003630.3(PEX3):c.*129C>T SNV Uncertain significance 355578 rs41285017 GRCh37: 6:143810492-143810492
GRCh38: 6:143489355-143489355
17 PEX3 NM_003630.3(PEX3):c.*677C>T SNV Uncertain significance 355587 rs886061136 GRCh37: 6:143811040-143811040
GRCh38: 6:143489903-143489903
18 PEX3 NM_003630.3(PEX3):c.-175G>C SNV Uncertain significance 355571 rs545482337 GRCh37: 6:143772005-143772005
GRCh38: 6:143450868-143450868
19 PEX3 NM_003630.3(PEX3):c.*424T>C SNV Uncertain significance 355584 rs189379544 GRCh37: 6:143810787-143810787
GRCh38: 6:143489650-143489650
20 PEX3 NM_003630.3(PEX3):c.-214G>C SNV Uncertain significance 355568 rs886061129 GRCh37: 6:143771966-143771966
GRCh38: 6:143450829-143450829
21 PEX3 NM_003630.3(PEX3):c.*958T>C SNV Uncertain significance 355590 rs41285019 GRCh37: 6:143811321-143811321
GRCh38: 6:143490184-143490184
22 PEX3 NM_003630.3(PEX3):c.*1332A>G SNV Uncertain significance 355593 rs886061138 GRCh37: 6:143811695-143811695
GRCh38: 6:143490558-143490558
23 PEX3 NM_003630.3(PEX3):c.51C>T (p.Ile17=) SNV Uncertain significance 355573 rs367803197 GRCh37: 6:143772230-143772230
GRCh38: 6:143451093-143451093
24 PEX3 NM_003630.3(PEX3):c.*793T>C SNV Uncertain significance 355588 rs535466526 GRCh37: 6:143811156-143811156
GRCh38: 6:143490019-143490019
25 PEX3 NM_003630.3(PEX3):c.-231G>C SNV Uncertain significance 904392 GRCh37: 6:143771949-143771949
GRCh38: 6:143450812-143450812
26 PEX3 NM_003630.3(PEX3):c.*287A>G SNV Uncertain significance 904445 GRCh37: 6:143810650-143810650
GRCh38: 6:143489513-143489513
27 PEX3 NM_003630.3(PEX3):c.*321A>T SNV Uncertain significance 904446 GRCh37: 6:143810684-143810684
GRCh38: 6:143489547-143489547
28 PEX3 NM_003630.3(PEX3):c.*377C>T SNV Uncertain significance 904447 GRCh37: 6:143810740-143810740
GRCh38: 6:143489603-143489603
29 PEX3 NM_003630.3(PEX3):c.-186C>T SNV Uncertain significance 905184 GRCh37: 6:143771994-143771994
GRCh38: 6:143450857-143450857
30 PEX3 NM_003630.3(PEX3):c.-96G>T SNV Uncertain significance 905185 GRCh37: 6:143772084-143772084
GRCh38: 6:143450947-143450947
31 PEX3 NM_003630.3(PEX3):c.*708A>G SNV Uncertain significance 905239 GRCh37: 6:143811071-143811071
GRCh38: 6:143489934-143489934
32 PEX3 NM_003630.3(PEX3):c.*742A>G SNV Uncertain significance 905240 GRCh37: 6:143811105-143811105
GRCh38: 6:143489968-143489968
33 PEX3 NM_003630.3(PEX3):c.*822A>G SNV Uncertain significance 905241 GRCh37: 6:143811185-143811185
GRCh38: 6:143490048-143490048
34 PEX3 NM_003630.3(PEX3):c.332-9T>A SNV Uncertain significance 906787 GRCh37: 6:143792089-143792089
GRCh38: 6:143470952-143470952
35 PEX3 NM_003630.3(PEX3):c.332G>T (p.Ser111Ile) SNV Uncertain significance 906788 GRCh37: 6:143792098-143792098
GRCh38: 6:143470961-143470961
36 PEX3 NM_003630.3(PEX3):c.472C>G (p.Pro158Ala) SNV Uncertain significance 906789 GRCh37: 6:143792535-143792535
GRCh38: 6:143471398-143471398
37 PEX3 NM_003630.3(PEX3):c.*978C>T SNV Uncertain significance 906831 GRCh37: 6:143811341-143811341
GRCh38: 6:143490204-143490204
38 PEX3 NM_003630.3(PEX3):c.*985T>G SNV Uncertain significance 906832 GRCh37: 6:143811348-143811348
GRCh38: 6:143490211-143490211
39 PEX3 NM_003630.3(PEX3):c.*1226A>T SNV Uncertain significance 906833 GRCh37: 6:143811589-143811589
GRCh38: 6:143490452-143490452
40 PEX3 NM_003630.3(PEX3):c.810G>A (p.Met270Ile) SNV Uncertain significance 907773 GRCh37: 6:143795985-143795985
GRCh38: 6:143474848-143474848
41 PEX3 NM_003630.3(PEX3):c.*895G>A SNV Likely benign 355589 rs3804545 GRCh37: 6:143811258-143811258
GRCh38: 6:143490121-143490121
42 PEX3 NM_003630.3(PEX3):c.*1335A>G SNV Likely benign 355594 rs9403495 GRCh37: 6:143811698-143811698
GRCh38: 6:143490561-143490561
43 PEX3 NM_003630.3(PEX3):c.*391G>A SNV Likely benign 355583 rs140007169 GRCh37: 6:143810754-143810754
GRCh38: 6:143489617-143489617
44 PEX3 NM_003630.3(PEX3):c.-4A>G SNV Likely benign 259104 rs116692495 GRCh37: 6:143772176-143772176
GRCh38: 6:143451039-143451039
45 PEX3 NM_003630.3(PEX3):c.*546A>G SNV Benign 355585 rs10809 GRCh37: 6:143810909-143810909
GRCh38: 6:143489772-143489772
46 PEX3 NM_003630.3(PEX3):c.-197T>C SNV Benign 355569 rs184934783 GRCh37: 6:143771983-143771983
GRCh38: 6:143450846-143450846
47 PEX3 NM_003630.3(PEX3):c.942-13A>G SNV Benign 259108 rs161058 GRCh37: 6:143806276-143806276
GRCh38: 6:143485139-143485139
48 PEX3 NM_003630.3(PEX3):c.*319A>T SNV Benign 355582 rs223234 GRCh37: 6:143810682-143810682
GRCh38: 6:143489545-143489545
49 PEX3 NM_003630.3(PEX3):c.245A>G (p.Gln82Arg) SNV Benign 355575 rs35220041 GRCh37: 6:143784092-143784092
GRCh38: 6:143462955-143462955
50 PEX3 NM_003630.3(PEX3):c.*205C>A SNV Benign 907774 GRCh37: 6:143810568-143810568
GRCh38: 6:143489431-143489431

UniProtKB/Swiss-Prot genetic disease variations for Peroxisome Biogenesis Disorder 10a:

72
# Symbol AA change Variation ID SNP ID
1 PEX3 p.Gly138Glu VAR_009304

Expression for Peroxisome Biogenesis Disorder 10a

Search GEO for disease gene expression data for Peroxisome Biogenesis Disorder 10a.

Pathways for Peroxisome Biogenesis Disorder 10a

GO Terms for Peroxisome Biogenesis Disorder 10a

Sources for Peroxisome Biogenesis Disorder 10a

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
Content
Loading form....