PBD3A
MCID: PRX065
MIFTS: 32

Peroxisome Biogenesis Disorder 3a (PBD3A)

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 3a

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 3a:

Name: Peroxisome Biogenesis Disorder 3a 57 12 72 29 13 6 70
Pbd3a 57 72
Peroxisome Biogenesis Disorder Complementation Group 3 72
Peroxisome Biogenesis Disorder, Type 3a 39
Pbd-Cg3 72
Cg3 72

Characteristics:

OMIM®:

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


HPO:

31
peroxisome biogenesis disorder 3a:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080478
OMIM® 57 614859
OMIM Phenotypic Series 57 PS214100
UMLS 70 C3553929

Summaries for Peroxisome Biogenesis Disorder 3a

UniProtKB/Swiss-Prot : 72 Peroxisome biogenesis disorder 3A: 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 3: 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 3a, also known as pbd3a, is related to peroxisome biogenesis disorder 3b and chudley-mccullough syndrome, and has symptoms including seizures An important gene associated with Peroxisome Biogenesis Disorder 3a is PEX12 (Peroxisomal Biogenesis Factor 12). Affiliated tissues include eye, kidney and liver, and related phenotypes are hepatomegaly and wide nasal bridge

Disease Ontology : 12 A peroxisomal biogenesis disorder that has material basis in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17.

OMIM® : 57 The peroxisomal biogenesis disorder (PBD) 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 3 (CG3) have mutations in the PEX12 gene. For information on the history of PBD complementation groups, see 214100. (614859) (Updated 05-Apr-2021)

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 3a

Human phenotypes related to Peroxisome Biogenesis Disorder 3a:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 31 HP:0002240
2 wide nasal bridge 31 HP:0000431
3 feeding difficulties in infancy 31 HP:0008872
4 epiphyseal stippling 31 HP:0010655
5 flat face 31 HP:0012368
6 low-set ears 31 HP:0000369
7 areflexia 31 HP:0001284
8 polycystic kidney dysplasia 31 HP:0000113
9 high forehead 31 HP:0000348
10 generalized neonatal hypotonia 31 HP:0008935
11 generalized hypotonia 31 HP:0001290
12 seizure 31 HP:0001250
13 vascular dilatation 31 HP:0002617

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
areflexia, progressive
ventricular dilatation, occipital, seen on ultrasound

Head And Neck Ears:
low-set ears

Genitourinary Kidneys:
polycystic kidneys

Muscle Soft Tissue:
hypotonia, progressive

Skeletal Skull:
wide open anterior fontanel

Head And Neck Face:
flat face
high forehead

Head And Neck Nose:
broad nasal bridge

Laboratory Abnormalities:
increased very long chain fatty acids (vlcfas)
zellweger complementation group 3
normal serum phytanic acid
normal serum pristanic acid
pipecolic acid elevated in urine and serum
more
Abdomen Liver:
single cyst in liver

Skeletal Limbs:
varus deformity, unilateral

Clinical features from OMIM®:

614859 (Updated 05-Apr-2021)

UMLS symptoms related to Peroxisome Biogenesis Disorder 3a:


seizures

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 3a

Search Clinical Trials , NIH Clinical Center for Peroxisome Biogenesis Disorder 3a

Genetic Tests for Peroxisome Biogenesis Disorder 3a

Genetic tests related to Peroxisome Biogenesis Disorder 3a:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorder 3a 29 PEX12

Anatomical Context for Peroxisome Biogenesis Disorder 3a

MalaCards organs/tissues related to Peroxisome Biogenesis Disorder 3a:

40
Eye, Kidney, Liver

Publications for Peroxisome Biogenesis Disorder 3a

Articles related to Peroxisome Biogenesis Disorder 3a:

(show all 20)
# Title Authors PMID Year
1
PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p. 57 6
9632816 1998
2
PEX12 encodes an integral membrane protein of peroxisomes. 6 57
9354782 1997
3
Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders. 6 57
9090384 1997
4
Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing. 6
27763634 2017
5
Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden. 6
27124789 2016
6
A novel mutation in the PEX12 gene causing a peroxisomal biogenesis disorder. 6
26094004 2015
7
Zellweger syndrome and secondary mitochondrial myopathy. 6
25287621 2015
8
The RING-type ubiquitin ligases Pex2p, Pex10p and Pex12p form a heteromeric complex that displays enhanced activity in an ubiquitin conjugating enzyme-selective manner. 6
22471590 2012
9
Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs. 6
20681997 2011
10
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 6
21031596 2011
11
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 6
19105186 2009
12
Peroxisome biogenesis disorders. 57
17055079 2006
13
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 6
15542397 2004
14
Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism. 6
15241794 2004
15
Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder. 6
15184617 2004
16
Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder. 6
14571262 2004
17
Pex12p of Saccharomyces cerevisiae is a component of a multi-protein complex essential for peroxisomal matrix protein import. 6
11370741 2001
18
Molecular anatomy of the peroxin Pex12p: ring finger domain is essential for Pex12p function and interacts with the peroxisome-targeting signal type 1-receptor Pex5p and a ring peroxin, Pex10p. 6
10837480 2000
19
PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import. 6
10562279 1999
20
Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders. 6
9792857 1998

Variations for Peroxisome Biogenesis Disorder 3a

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 3a:

6 (show top 50) (show all 154)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PEX12 NM_000286.3(PEX12):c.31del (p.Ala11fs) Deletion Pathogenic 847311 GRCh37: 17:33905010-33905010
GRCh38: 17:35577991-35577991
2 PEX12 PEX12, 4-BP INS, 733GCCT Insertion Pathogenic 7770 GRCh37:
GRCh38:
3 PEX12 PEX12, 1-BP INS, 744T Insertion Pathogenic 7771 GRCh37:
GRCh38:
4 PEX12 PEX12, 4-BP DEL, 684TAGT Deletion Pathogenic 7772 GRCh37:
GRCh38:
5 PEX12 NM_000286.3(PEX12):c.691A>T (p.Lys231Ter) SNV Pathogenic 7773 rs104894616 GRCh37: 17:33903190-33903190
GRCh38: 17:35576171-35576171
6 PEX12 NM_000286.3(PEX12):c.62_63del (p.Ile20_Phe21insTer) Deletion Pathogenic 937792 GRCh37: 17:33904978-33904979
GRCh38: 17:35577959-35577960
7 PEX12 NM_000286.3(PEX12):c.765_766dup (p.Phe256fs) Duplication Pathogenic 375474 rs1057519507 GRCh37: 17:33903114-33903115
GRCh38: 17:35576095-35576096
8 PEX12 NM_000286.3(PEX12):c.604C>T (p.Arg202Ter) SNV Pathogenic 551647 rs61752105 GRCh37: 17:33904133-33904133
GRCh38: 17:35577114-35577114
9 PEX12 NM_000286.3(PEX12):c.334C>T (p.Gln112Ter) SNV Pathogenic 191074 rs776731688 GRCh37: 17:33904403-33904403
GRCh38: 17:35577384-35577384
10 PEX12 NM_000286.3(PEX12):c.789G>A (p.Trp263Ter) SNV Pathogenic 551557 rs747099919 GRCh37: 17:33903092-33903092
GRCh38: 17:35576073-35576073
11 PEX12 NM_000286.3(PEX12):c.983_984GT[2] (p.Phe330fs) Microsatellite Pathogenic 557980 rs764657253 GRCh37: 17:33902893-33902894
GRCh38: 17:35575874-35575875
12 PEX12 NM_000286.3(PEX12):c.538C>T (p.Arg180Ter) SNV Pathogenic 7774 rs61752103 GRCh37: 17:33904199-33904199
GRCh38: 17:35577180-35577180
13 PEX12 NM_000286.3(PEX12):c.730_733dup (p.Leu245fs) Duplication Pathogenic 371737 rs61752107 GRCh37: 17:33903147-33903148
GRCh38: 17:35576128-35576129
14 PEX12 NM_000286.3(PEX12):c.886_887CT[1] (p.Leu297fs) Microsatellite Pathogenic 92776 rs398123301 GRCh37: 17:33902992-33902993
GRCh38: 17:35575973-35575974
15 PEX12 NM_000286.3(PEX12):c.126+1G>T SNV Pathogenic 371718 rs144259891 GRCh37: 17:33904914-33904914
GRCh38: 17:35577895-35577895
16 PEX12 NM_000286.3(PEX12):c.538C>T (p.Arg180Ter) SNV Pathogenic 7774 rs61752103 GRCh37: 17:33904199-33904199
GRCh38: 17:35577180-35577180
17 PEX12 NM_000286.3(PEX12):c.268_271del (p.Lys90fs) Deletion Pathogenic 501646 rs61752100 GRCh37: 17:33904466-33904469
GRCh38: 17:35577447-35577450
18 PEX12 NM_000286.3(PEX12):c.625C>T (p.Gln209Ter) SNV Pathogenic 555548 rs61752106 GRCh37: 17:33904112-33904112
GRCh38: 17:35577093-35577093
19 PEX12 NM_000286.3(PEX12):c.959C>T (p.Ser320Phe) SNV Pathogenic 7775 rs28936697 GRCh37: 17:33902922-33902922
GRCh38: 17:35575903-35575903
20 PEX12 NM_000286.3(PEX12):c.744dup (p.Thr249fs) Duplication Pathogenic 553741 rs61752108 GRCh37: 17:33903136-33903137
GRCh38: 17:35576117-35576118
21 PEX12 NM_000286.3(PEX12):c.744dup (p.Thr249fs) Duplication Pathogenic 553741 rs61752108 GRCh37: 17:33903136-33903137
GRCh38: 17:35576117-35576118
22 PEX12 NM_000286.3(PEX12):c.894del (p.Lys299_Met300insTer) Deletion Likely pathogenic 92777 rs398123302 GRCh37: 17:33902987-33902987
GRCh38: 17:35575968-35575968
23 PEX12 NM_000286.3(PEX12):c.625C>T (p.Gln209Ter) SNV Likely pathogenic 555548 rs61752106 GRCh37: 17:33904112-33904112
GRCh38: 17:35577093-35577093
24 PEX12 NM_000286.3(PEX12):c.268_271del (p.Lys90fs) Deletion Likely pathogenic 501646 rs61752100 GRCh37: 17:33904466-33904469
GRCh38: 17:35577447-35577450
25 PEX12 NM_000286.3(PEX12):c.1_2del (p.Met1fs) Deletion Likely pathogenic 556743 rs1555549923 GRCh37: 17:33905039-33905040
GRCh38: 17:35578020-35578021
26 PEX12 NM_000286.3(PEX12):c.644del (p.Pro215fs) Deletion Likely pathogenic 556886 rs1199283977 GRCh37: 17:33904093-33904093
GRCh38: 17:35577074-35577074
27 PEX12 NM_000286.3(PEX12):c.88_89del (p.Met30fs) Deletion Likely pathogenic 556965 rs1555549909 GRCh37: 17:33904952-33904953
GRCh38: 17:35577933-35577934
28 PEX12 NM_000286.3(PEX12):c.680+1G>A SNV Likely pathogenic 558363 rs904972651 GRCh37: 17:33904056-33904056
GRCh38: 17:35577037-35577037
29 PEX12 NM_000286.3(PEX12):c.961_964del (p.Gly321fs) Deletion Likely pathogenic 558619 rs749650201 GRCh37: 17:33902917-33902920
GRCh38: 17:35575898-35575901
30 PEX12 NM_000286.3(PEX12):c.334C>T (p.Gln112Ter) SNV Likely pathogenic 191074 rs776731688 GRCh37: 17:33904403-33904403
GRCh38: 17:35577384-35577384
31 PEX12 NM_000286.3(PEX12):c.687_690del (p.Ser229fs) Deletion Likely pathogenic 552278 rs1555549769 GRCh37: 17:33903191-33903194
GRCh38: 17:35576172-35576175
32 PEX12 NM_000286.3(PEX12):c.978C>A (p.Tyr326Ter) SNV Likely pathogenic 552325 rs941358133 GRCh37: 17:33902903-33902903
GRCh38: 17:35575884-35575884
33 PEX12 NM_000286.3(PEX12):c.664C>T (p.Gln222Ter) SNV Likely pathogenic 552699 rs1555549841 GRCh37: 17:33904073-33904073
GRCh38: 17:35577054-35577054
34 PEX12 NM_000286.3(PEX12):c.429_431inv (p.Tyr143_Ser144delinsTer) Inversion Likely pathogenic 552799 GRCh37: 17:33904306-33904308
GRCh38: 17:35577287-35577289
35 PEX12 NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer) Duplication Likely pathogenic 553017 rs1238451790 GRCh37: 17:33904964-33904965
GRCh38: 17:35577945-35577946
36 PEX12 NM_000286.3(PEX12):c.781del (p.Asp262fs) Deletion Likely pathogenic 553270 rs754193088 GRCh37: 17:33903100-33903100
GRCh38: 17:35576081-35576081
37 PEX12 NM_000286.3(PEX12):c.190_194del (p.Thr64fs) Deletion Likely pathogenic 553579 rs1214971073 GRCh37: 17:33904543-33904547
GRCh38: 17:35577524-35577528
38 PEX12 NM_000286.3(PEX12):c.771del (p.Leu258fs) Deletion Likely pathogenic 553650 rs1555549754 GRCh37: 17:33903110-33903110
GRCh38: 17:35576091-35576091
39 PEX12 NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter) SNV Likely pathogenic 554388 rs765404768 GRCh37: 17:33904515-33904515
GRCh38: 17:35577496-35577496
40 PEX12 NM_000286.3(PEX12):c.530_532AAC[1] (p.Gln178del) Microsatellite Likely pathogenic 437449 rs61752102 GRCh37: 17:33904202-33904204
GRCh38: 17:35577183-35577185
41 PEX12 NM_000286.3(PEX12):c.126+2T>A SNV Likely pathogenic 555306 rs1555549902 GRCh37: 17:33904913-33904913
GRCh38: 17:35577894-35577894
42 PEX12 NM_000286.3(PEX12):c.1044_1046ACA[1] (p.Gln349del) Microsatellite Likely pathogenic 556045 rs267608184 GRCh37: 17:33902832-33902834
GRCh38: 17:35575813-35575815
43 PEX12 NM_000286.3(PEX12):c.684_687del (p.Ser229fs) Deletion Likely pathogenic 371738 rs62642859 GRCh37: 17:33903194-33903197
GRCh38: 17:35576175-35576178
44 PEX12 NM_000286.3(PEX12):c.530_532AAC[1] (p.Gln178del) Microsatellite Likely pathogenic 437449 rs61752102 GRCh37: 17:33904202-33904204
GRCh38: 17:35577183-35577185
45 PEX12 NM_000286.3(PEX12):c.223_224del (p.Leu75fs) Deletion Likely pathogenic 550148 rs1555549876 GRCh37: 17:33904513-33904514
GRCh38: 17:35577494-35577495
46 PEX12 NM_000286.3(PEX12):c.49C>T (p.Gln17Ter) SNV Likely pathogenic 550907 rs888633730 GRCh37: 17:33904992-33904992
GRCh38: 17:35577973-35577973
47 PEX12 NM_000286.3(PEX12):c.211C>T (p.Gln71Ter) SNV Likely pathogenic 551127 rs767447750 GRCh37: 17:33904526-33904526
GRCh38: 17:35577507-35577507
48 PEX12 NM_000286.3(PEX12):c.789G>A (p.Trp263Ter) SNV Likely pathogenic 551557 rs747099919 GRCh37: 17:33903092-33903092
GRCh38: 17:35576073-35576073
49 PEX12 NM_000286.3(PEX12):c.460C>T (p.Arg154Ter) SNV Likely pathogenic 551612 rs1555549855 GRCh37: 17:33904277-33904277
GRCh38: 17:35577258-35577258
50 PEX12 NM_000286.3(PEX12):c.1002G>A (p.Arg334=) SNV Conflicting interpretations of pathogenicity 322652 rs200283718 GRCh37: 17:33902879-33902879
GRCh38: 17:35575860-35575860

Expression for Peroxisome Biogenesis Disorder 3a

Search GEO for disease gene expression data for Peroxisome Biogenesis Disorder 3a.

Pathways for Peroxisome Biogenesis Disorder 3a

GO Terms for Peroxisome Biogenesis Disorder 3a

Sources for Peroxisome Biogenesis Disorder 3a

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
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