PBD12A
MCID: PRX054
MIFTS: 33

Peroxisome Biogenesis Disorder 12a (PBD12A)

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 12a

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 12a:

Name: Peroxisome Biogenesis Disorder 12a 57 12 72 29 13 6 70
Pbd12a 57 72
Peroxisome Biogenesis Disorder, Complementation Group 14 70
Peroxisome Biogenesis Disorder Complementation Group 14 72
Peroxisome Biogenesis Disorder Complementation Group J 72
Peroxisome Biogenesis Disorder, Type 12a 39
Pbd-Cg14 72
Pbd-Cgj 72
Cg14 72

Characteristics:

OMIM®:

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

Miscellaneous:
recurrent severe sepsis
death by 16 months of age
three patients have been reported (last curated january 2017)


HPO:

31
peroxisome biogenesis disorder 12a:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 12a

UniProtKB/Swiss-Prot : 72 Peroxisome biogenesis disorder 12A: 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 14: 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 12a, is also known as pbd12a. An important gene associated with Peroxisome Biogenesis Disorder 12a is PEX19 (Peroxisomal Biogenesis Factor 19). Affiliated tissues include eye, bone and liver, and related phenotypes are hydrocephalus and global developmental delay

Disease Ontology : 12 A peroxisomal biogenesis disorder that has material basis in homozygous mutation in the PEX19 gene on chromosome 1q23.

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 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see 214100. (614886) (Updated 05-Apr-2021)

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 12a

Human phenotypes related to Peroxisome Biogenesis Disorder 12a:

31 (show all 33)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 31 HP:0000238
2 global developmental delay 31 HP:0001263
3 wide nasal bridge 31 HP:0000431
4 abnormal cortical bone morphology 31 HP:0003103
5 microcephaly 31 HP:0000252
6 short stature 31 HP:0004322
7 renal tubular dysfunction 31 HP:0000124
8 growth delay 31 HP:0001510
9 elevated hepatic transaminase 31 HP:0002910
10 epicanthus 31 HP:0000286
11 atrial septal defect 31 HP:0001631
12 cholelithiasis 31 HP:0001081
13 patent ductus arteriosus 31 HP:0001643
14 decreased fetal movement 31 HP:0001558
15 hepatic failure 31 HP:0001399
16 decreased body weight 31 HP:0004325
17 triangular face 31 HP:0000325
18 wide anterior fontanel 31 HP:0000260
19 hyperbilirubinemia 31 HP:0002904
20 prominent nose 31 HP:0000448
21 cerebral atrophy 31 HP:0002059
22 generalized hypotonia 31 HP:0001290
23 abnormality of the male genitalia 31 HP:0010461
24 delayed closure of the anterior fontanelle 31 HP:0001476
25 periorbital fullness 31 HP:0000629
26 cranial asymmetry 31 HP:0000267
27 cns demyelination 31 HP:0007305
28 scaphocephaly 31 HP:0030799
29 double outlet right ventricle 31 HP:0001719
30 abnormality of the hairline 31 HP:0009553
31 elevated circulating long chain fatty acid concentration 31 HP:0003455
32 seizure 31 HP:0001250
33 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
hydrocephalus
scaphocephaly
small head (3rd centile)

Cardiovascular Heart:
atrial septal defect
patent ductus arteriosus
systolic murmur
double outlet right ventricle (dorv)

Skeletal Skull:
wide anterior fontanel
cranial asymmetry
wide posterior fontanel
open sagittal metopic sutures

Head And Neck Nose:
prominent nose
broad nasal bridge

Head And Neck Eyes:
epicanthal folds
periorbital puffiness

Skeletal:
dense bones

Laboratory Abnormalities:
decreased pristanic acid beta-oxidation
elevated plasma very long chain fatty acids (vlcfa)
complete absence of peroxisomes in fibroblasts
deficiency of dihydroxyacetonephosphate acyltransferase (dhapat)
decreased phytanic acid alpha-oxidation

Growth Weight:
low weight (3rd centile)

Genitourinary External Genitalia Male:
abnormal male genitals

Hematology:
disseminated coagulopathy

Neurologic Central Nervous System:
global developmental delay
brisk tendon reflexes
absent moro reflex
absent palmar grasp
epilepsy (resistant to conventional anticonvulsant drugs)
more
Head And Neck Face:
triangular face
prominent premaxilla
small receding chin

Abdomen Liver:
hyperbilirubinemia
liver failure

Muscle Soft Tissue:
hypotonia

Abdomen Biliary Tract:
gallstones

Prenatal Manifestations Movement:
reduced fetal movement

Growth Height:
short stature (3rd centile)

Head And Neck Ears:
asymmetric abnormal ears

Genitourinary Kidneys:
renal tubular defect

Prenatal Manifestations Amniotic Fluid:
diminished amniotic fluid

Clinical features from OMIM®:

614886 (Updated 05-Apr-2021)

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 12a

Search Clinical Trials , NIH Clinical Center for Peroxisome Biogenesis Disorder 12a

Genetic Tests for Peroxisome Biogenesis Disorder 12a

Genetic tests related to Peroxisome Biogenesis Disorder 12a:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorder 12a 29 PEX19

Anatomical Context for Peroxisome Biogenesis Disorder 12a

MalaCards organs/tissues related to Peroxisome Biogenesis Disorder 12a:

40
Eye, Bone, Liver, Ovary, Ciliary Ganglion

Publications for Peroxisome Biogenesis Disorder 12a

Articles related to Peroxisome Biogenesis Disorder 12a:

(show all 25)
# Title Authors PMID Year
1
A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder. 6 57
20683989 2010
2
Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly. 6 57
10051604 1999
3
Peroxisome biogenesis disorders. 57
17055079 2006
4
Newly identified Chinese hamster ovary cell mutants are defective in biogenesis of peroxisomal membrane vesicles (Peroxisomal ghosts), representing a novel complementation group in mammals. 57
9727033 1998
5
Sequence Variants Linked to Key Traits in Interspecific Crosses between African and Asian Rice. 61
33256095 2020
6
Wild and Cultivated Species of Rice Have Distinctive Proteomic Responses to Drought. 61
32825202 2020
7
Identification and Fine Mapping of Pi69(t), a New Gene Conferring Broad-Spectrum Resistance Against Magnaporthe oryzae From Oryza glaberrima Steud. 61
32849738 2020
8
Genetic variation and QTLs related to root development in upland New Rice for Africa (NERICA) varieties. 61
31086487 2019
9
Macroscopic and microscopic evaluation of flapless alveolar perforations on experimental tooth movement. 61
30672988 2018
10
Transmissible silver resistance readily evolves in high-risk clone isolates of Klebsiella pneumoniae. 61
30043621 2018
11
Comparative whole genome re-sequencing analysis in upland New Rice for Africa: insights into the breeding history and respective genome compositions. 61
29766351 2018
12
Fine mapping of RYMV3: a new resistance gene to Rice yellow mottle virus from Oryza glaberrima. 61
28144699 2017
13
Effect of low-level laser therapy on angiogenesis and matrix metalloproteinase-2 immunoexpression in wound repair. 61
27649960 2017
14
Resilience of rice (Oryza spp.) pollen germination and tube growth to temperature stress. 61
25346255 2016
15
Osteochondral defect repair using bilayered hydrogels encapsulating both chondrogenically and osteogenically pre-differentiated mesenchymal stem cells in a rabbit model. 61
25008204 2014
16
A novel allele of the P-starvation tolerance gene OsPSTOL1 from African rice (Oryza glaberrima Steud) and its distribution in the genus Oryza. 61
24728072 2014
17
Generation of osteochondral tissue constructs with chondrogenically and osteogenically predifferentiated mesenchymal stem cells encapsulated in bilayered hydrogels. 61
24300948 2014
18
A recessive resistance to rice yellow mottle virus is associated with a rice homolog of the CPR5 gene, a regulator of active defense mechanisms. 61
23944999 2013
19
Development of candidate gene markers associated to common bacterial blight resistance in common bean. 61
22798059 2012
20
Pre-attachment Striga hermonthica resistance of New Rice for Africa (NERICA) cultivars based on low strigolactone production. 61
21883233 2011
21
Histological analysis of low-intensity laser therapy effects in peripheral nerve regeneration in Wistar rats. 61
21271198 2011
22
Comparison of probe hybridization array typing to multilocus sequence typing for pathogenic Escherichia coli. 61
19144816 2009
23
The Genetic Basis of High Resistance to Rice Yellow Mottle Virus (RYMV) in Cultivars of Two Cultivated Rice Species. 61
30841075 1999
24
The peroxin Pex14p. cDNA cloning by functional complementation on a Chinese hamster ovary cell mutant, characterization, and functional analysis. 61
10212238 1999
25
Age-dependent responses of ciliary ganglion neurons to conditioned media on cells at different stages of embryonic development. 61
3243677 1988

Variations for Peroxisome Biogenesis Disorder 12a

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 12a:

6 (show top 50) (show all 109)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PEX19 NM_002857.3(PEX19):c.763dup (p.Met255fs) Duplication Pathogenic 9217 rs267608186 GRCh37: 1:160249867-160249868
GRCh38: 1:160280077-160280078
2 PEX19 NM_002857.3(PEX19):c.320del (p.Lys107fs) Deletion Pathogenic 30062 rs1571138735 GRCh37: 1:160252760-160252760
GRCh38: 1:160282970-160282970
3 PEX19 NM_002857.3(PEX19):c.181-5C>T SNV Conflicting interpretations of pathogenicity 281660 rs199818690 GRCh37: 1:160252904-160252904
GRCh38: 1:160283114-160283114
4 PEX19 NM_002857.3(PEX19):c.261C>T (p.Phe87=) SNV Conflicting interpretations of pathogenicity 284050 rs146644725 GRCh37: 1:160252819-160252819
GRCh38: 1:160283029-160283029
5 PEX19 NM_002857.3(PEX19):c.459G>A (p.Leu153=) SNV Conflicting interpretations of pathogenicity 293228 rs78340311 GRCh37: 1:160251964-160251964
GRCh38: 1:160282174-160282174
6 PEX19 NM_002857.3(PEX19):c.254C>T (p.Ala85Val) SNV Conflicting interpretations of pathogenicity 500756 rs11550119 GRCh37: 1:160252826-160252826
GRCh38: 1:160283036-160283036
7 PEX19 NM_002857.3(PEX19):c.498T>G (p.Asp166Glu) SNV Conflicting interpretations of pathogenicity 293227 rs142780305 GRCh37: 1:160251925-160251925
GRCh38: 1:160282135-160282135
8 PEX19 NM_002857.3(PEX19):c.16G>A (p.Glu6Lys) SNV Conflicting interpretations of pathogenicity 287774 rs145845197 GRCh37: 1:160254899-160254899
GRCh38: 1:160285109-160285109
9 PEX19 NM_002857.3(PEX19):c.402T>C (p.Ser134=) SNV Conflicting interpretations of pathogenicity 293230 rs139828188 GRCh37: 1:160252237-160252237
GRCh38: 1:160282447-160282447
10 PEX19 NM_002857.4(PEX19):c.536T>G (p.Met179Arg) SNV Uncertain significance 960161 GRCh37: 1:160251887-160251887
GRCh38: 1:160282097-160282097
11 PEX19 NM_002857.4(PEX19):c.526C>G (p.Gln176Glu) SNV Uncertain significance 1029646 GRCh37: 1:160251897-160251897
GRCh38: 1:160282107-160282107
12 PEX19 NM_002857.4(PEX19):c.25A>G (p.Ser9Gly) SNV Uncertain significance 1032854 GRCh37: 1:160254890-160254890
GRCh38: 1:160285100-160285100
13 PEX19 NM_002857.4(PEX19):c.143C>T (p.Ser48Leu) SNV Uncertain significance 1039435 GRCh37: 1:160253357-160253357
GRCh38: 1:160283567-160283567
14 PEX19 NM_002857.4(PEX19):c.772C>G (p.Leu258Val) SNV Uncertain significance 1042968 GRCh37: 1:160249635-160249635
GRCh38: 1:160279845-160279845
15 PEX19 NM_001193644.1(PEX19):c.817-13T>G SNV Uncertain significance 597440 rs1272607089 GRCh37: 1:160249385-160249385
GRCh38: 1:160279595-160279595
16 PEX19 NM_002857.4(PEX19):c.886T>C (p.Cys296Arg) SNV Uncertain significance 1046358 GRCh37: 1:160249355-160249355
GRCh38: 1:160279565-160279565
17 PEX19 NM_001193644.1(PEX19):c.-17A>C SNV Uncertain significance 876087 GRCh37: 1:160254931-160254931
GRCh38: 1:160285141-160285141
18 PEX19 NM_002857.3(PEX19):c.-4C>T SNV Uncertain significance 293235 rs201541204 GRCh37: 1:160254918-160254918
GRCh38: 1:160285128-160285128
19 PEX19 NM_002857.3(PEX19):c.347-7C>T SNV Uncertain significance 293231 rs753523567 GRCh37: 1:160252299-160252299
GRCh38: 1:160282509-160282509
20 PEX19 NM_002857.3(PEX19):c.857C>G (p.Ser286Trp) SNV Uncertain significance 595959 rs149976198 GRCh37: 1:160249384-160249384
GRCh38: 1:160279594-160279594
21 PEX19 NM_002857.4(PEX19):c.594G>C (p.Lys198Asn) SNV Uncertain significance 956016 GRCh37: 1:160251829-160251829
GRCh38: 1:160282039-160282039
22 PEX19 NM_002857.4(PEX19):c.619C>T (p.Arg207Trp) SNV Uncertain significance 999099 GRCh37: 1:160250012-160250012
GRCh38: 1:160280222-160280222
23 PEX19 NM_002857.4(PEX19):c.242C>T (p.Ser81Phe) SNV Uncertain significance 1000374 GRCh37: 1:160252838-160252838
GRCh38: 1:160283048-160283048
24 PEX19 NM_002857.4(PEX19):c.23G>T (p.Cys8Phe) SNV Uncertain significance 1006825 GRCh37: 1:160254892-160254892
GRCh38: 1:160285102-160285102
25 PEX19 NM_002857.3(PEX19):c.670G>A (p.Val224Ile) SNV Uncertain significance 501619 rs372197333 GRCh37: 1:160249961-160249961
GRCh38: 1:160280171-160280171
26 PEX19 NM_002857.3(PEX19):c.149C>T (p.Pro50Leu) SNV Uncertain significance 293234 rs11550117 GRCh37: 1:160253351-160253351
GRCh38: 1:160283561-160283561
27 PEX19 NM_002857.3(PEX19):c.115C>T (p.Pro39Ser) SNV Uncertain significance 499937 rs144256391 GRCh37: 1:160253385-160253385
GRCh38: 1:160283595-160283595
28 PEX19 NM_002857.4(PEX19):c.272T>C (p.Met91Thr) SNV Uncertain significance 852437 GRCh37: 1:160252808-160252808
GRCh38: 1:160283018-160283018
29 PEX19 NM_002857.4(PEX19):c.424G>C (p.Asp142His) SNV Uncertain significance 857653 GRCh37: 1:160252215-160252215
GRCh38: 1:160282425-160282425
30 PEX19 NM_002857.4(PEX19):c.40G>C (p.Ala14Pro) SNV Uncertain significance 859368 GRCh37: 1:160254875-160254875
GRCh38: 1:160285085-160285085
31 PEX19 NM_002857.3(PEX19):c.215A>G (p.Gln72Arg) SNV Uncertain significance 595898 rs543271441 GRCh37: 1:160252865-160252865
GRCh38: 1:160283075-160283075
32 PEX19 NM_002857.4(PEX19):c.366A>G (p.Gln122=) SNV Uncertain significance 953155 GRCh37: 1:160252273-160252273
GRCh38: 1:160282483-160282483
33 PEX19 NM_001193644.1(PEX19):c.817-24C>T SNV Uncertain significance 501136 rs373092548 GRCh37: 1:160249396-160249396
GRCh38: 1:160279606-160279606
34 PEX19 NM_002857.4(PEX19):c.619C>G (p.Arg207Gly) SNV Uncertain significance 1014701 GRCh37: 1:160250012-160250012
GRCh38: 1:160280222-160280222
35 PEX19 NM_002857.4(PEX19):c.187C>G (p.Leu63Val) SNV Uncertain significance 1015305 GRCh37: 1:160252893-160252893
GRCh38: 1:160283103-160283103
36 PEX19 NM_002857.4(PEX19):c.17A>G (p.Glu6Gly) SNV Uncertain significance 1015414 GRCh37: 1:160254898-160254898
GRCh38: 1:160285108-160285108
37 PEX19 NM_002857.4(PEX19):c.69A>G (p.Glu23=) SNV Uncertain significance 1017355 GRCh37: 1:160254846-160254846
GRCh38: 1:160285056-160285056
38 PEX19 NM_002857.4(PEX19):c.129G>A (p.Thr43=) SNV Uncertain significance 1017768 GRCh37: 1:160253371-160253371
GRCh38: 1:160283581-160283581
39 PEX19 NM_002857.4(PEX19):c.547C>T (p.Leu183Phe) SNV Uncertain significance 1022858 GRCh37: 1:160251876-160251876
GRCh38: 1:160282086-160282086
40 PEX19 NM_002857.4(PEX19):c.395C>T (p.Thr132Ile) SNV Uncertain significance 1022920 GRCh37: 1:160252244-160252244
GRCh38: 1:160282454-160282454
41 PEX19 NM_002857.4(PEX19):c.37G>C (p.Glu13Gln) SNV Uncertain significance 1024823 GRCh37: 1:160254878-160254878
GRCh38: 1:160285088-160285088
42 PEX19 NM_002857.4(PEX19):c.517C>T (p.Pro173Ser) SNV Uncertain significance 1026869 GRCh37: 1:160251906-160251906
GRCh38: 1:160282116-160282116
43 PEX19 NM_002857.4(PEX19):c.667A>G (p.Ser223Gly) SNV Uncertain significance 860421 GRCh37: 1:160249964-160249964
GRCh38: 1:160280174-160280174
44 PEX19 NM_002857.3(PEX19):c.878G>C (p.Gly293Ala) SNV Uncertain significance 597301 rs139875266 GRCh37: 1:160249363-160249363
GRCh38: 1:160279573-160279573
45 PEX19 NM_002857.3(PEX19):c.*1592G>A SNV Uncertain significance 293205 rs779471097 GRCh37: 1:160247749-160247749
GRCh38: 1:160277959-160277959
46 PEX19 NM_002857.4(PEX19):c.*1462C>G SNV Uncertain significance 874149 GRCh37: 1:160247879-160247879
GRCh38: 1:160278089-160278089
47 PEX19 NM_002857.4(PEX19):c.*138C>T SNV Uncertain significance 874201 GRCh37: 1:160249203-160249203
GRCh38: 1:160279413-160279413
48 PEX19 NM_002857.4(PEX19):c.*1145C>T SNV Uncertain significance 875077 GRCh37: 1:160248196-160248196
GRCh38: 1:160278406-160278406
49 PEX19 NM_002857.4(PEX19):c.*1069G>A SNV Uncertain significance 875078 GRCh37: 1:160248272-160248272
GRCh38: 1:160278482-160278482
50 PEX19 NM_002857.4(PEX19):c.*1013G>A SNV Uncertain significance 875079 GRCh37: 1:160248328-160248328
GRCh38: 1:160278538-160278538

Expression for Peroxisome Biogenesis Disorder 12a

Search GEO for disease gene expression data for Peroxisome Biogenesis Disorder 12a.

Pathways for Peroxisome Biogenesis Disorder 12a

GO Terms for Peroxisome Biogenesis Disorder 12a

Sources for Peroxisome Biogenesis Disorder 12a

3 CDC
7 CNVD
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11 DGIdb
17 EFO
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32 ICD10
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44 MeSH
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57 OMIM® (Updated 05-Apr-2021)
61 PubMed
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