PBD13A
MCID: PRX052
MIFTS: 27

Peroxisome Biogenesis Disorder 13a (PBD13A)

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 13a

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 13a:

Name: Peroxisome Biogenesis Disorder 13a 57 12 72 29 13 6 70
Pbd13a 57 72
Peroxisome Biogenesis Disorder, Complementation Group K 6
Peroxisome Biogenesis Disorder Complementation Group K 72
Peroxisome Biogenesis Disorder, Type 13a 39
Pbd-Cgk 72

Characteristics:

OMIM®:

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

Miscellaneous:
based on detailed clinical information provided on 1 patient


HPO:

31
peroxisome biogenesis disorder 13a:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 13a

UniProtKB/Swiss-Prot : 72 Peroxisome biogenesis disorder 13A: 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 K: 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 13a, is also known as pbd13a, and has symptoms including icterus An important gene associated with Peroxisome Biogenesis Disorder 13a is PEX14 (Peroxisomal Biogenesis Factor 14). Affiliated tissues include eye, and related phenotypes are hepatomegaly and micrognathia

Disease Ontology : 12 A peroxisomal biogenesis disorder that has material basis in homozygous mutation in the PEX14 gene on chromosome 1p36.

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 K (CGK) have mutations in the PEX14 gene. For information on the history of PBD complementation groups, see 214100. (614887) (Updated 05-Apr-2021)

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 13a

Human phenotypes related to Peroxisome Biogenesis Disorder 13a:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 31 HP:0002240
2 micrognathia 31 HP:0000347
3 jaundice 31 HP:0000952
4 dolichocephaly 31 HP:0000268
5 abnormality of the eye 31 HP:0000478
6 flat occiput 31 HP:0005469
7 high forehead 31 HP:0000348
8 large fontanelles 31 HP:0000239
9 triangular face 31 HP:0000325
10 abnormality of neuronal migration 31 HP:0002269
11 feeding difficulties 31 HP:0011968
12 generalized hypotonia 31 HP:0001290
13 delayed closure of the anterior fontanelle 31 HP:0001476
14 seizure 31 HP:0001250
15 hypotonia 31 HP:0001252
16 abnormal nasal bridge morphology 31 HP:0000422

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Liver:
hepatomegaly
cholestasis

Head And Neck Head:
flat occiput
dolicocephaly

Skin Nails Hair Skin:
icterus

Skeletal Skull:
large fontanels
open fontanel

Head And Neck Nose:
low, broad nasal bridge

Head And Neck Face:
micrognathia
high forehead
triangular face

Head And Neck Eyes:
icterus

Neurologic Central Nervous System:
hypotonia

Laboratory Abnormalities:
elevated very long chain fatty acids (vlcfa)
normal phytanic acid level
elevated di- and trihydroxycholestanoic acid

Clinical features from OMIM®:

614887 (Updated 05-Apr-2021)

UMLS symptoms related to Peroxisome Biogenesis Disorder 13a:


icterus

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 13a

Search Clinical Trials , NIH Clinical Center for Peroxisome Biogenesis Disorder 13a

Genetic Tests for Peroxisome Biogenesis Disorder 13a

Genetic tests related to Peroxisome Biogenesis Disorder 13a:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorder 13a 29 PEX14

Anatomical Context for Peroxisome Biogenesis Disorder 13a

MalaCards organs/tissues related to Peroxisome Biogenesis Disorder 13a:

40
Eye

Publications for Peroxisome Biogenesis Disorder 13a

Articles related to Peroxisome Biogenesis Disorder 13a:

# Title Authors PMID Year
1
Identification of a novel PEX14 mutation in Zellweger syndrome. 57 6
18285423 2008
2
Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene. 57 6
15146459 2004
3
First Japanese case of Zellweger syndrome with a mutation in PEX14. 6
26627464 2015
4
Peroxisome biogenesis disorders. 57
17055079 2006

Variations for Peroxisome Biogenesis Disorder 13a

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 13a:

6 (show top 50) (show all 125)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PEX14 NM_004565.3(PEX14):c.553C>T (p.Gln185Ter) SNV Pathogenic 7701 rs61752116 GRCh37: 1:10684462-10684462
GRCh38: 1:10624405-10624405
2 PEX14 PEX14, 41-KB DEL Deletion Pathogenic 7702 GRCh37:
GRCh38:
3 PEX14 NM_004565.3(PEX14):c.36+1G>T SNV Likely pathogenic 862190 GRCh37: 1:10535060-10535060
GRCh38: 1:10475003-10475003
4 PEX14 NM_004565.3(PEX14):c.425G>A (p.Arg142Lys) SNV Uncertain significance 861009 GRCh37: 1:10683116-10683116
GRCh38: 1:10623059-10623059
5 PEX14 NM_004565.3(PEX14):c.883C>T (p.Pro295Ser) SNV Uncertain significance 291680 rs886045017 GRCh37: 1:10689793-10689793
GRCh38: 1:10629736-10629736
6 PEX14 NM_004565.3(PEX14):c.993T>G (p.Asp331Glu) SNV Uncertain significance 291682 rs79954820 GRCh37: 1:10689903-10689903
GRCh38: 1:10629846-10629846
7 PEX14 NM_004565.3(PEX14):c.*564C>T SNV Uncertain significance 291686 rs561807671 GRCh37: 1:10690608-10690608
GRCh38: 1:10630551-10630551
8 PEX14 NM_004565.3(PEX14):c.925G>T (p.Val309Leu) SNV Uncertain significance 291681 rs764272265 GRCh37: 1:10689835-10689835
GRCh38: 1:10629778-10629778
9 PEX14 NM_004565.3(PEX14):c.*576A>G SNV Uncertain significance 291687 rs530124005 GRCh37: 1:10690620-10690620
GRCh38: 1:10630563-10630563
10 PEX14 NM_004565.3(PEX14):c.*400G>T SNV Uncertain significance 291684 rs886045019 GRCh37: 1:10690444-10690444
GRCh38: 1:10630387-10630387
11 PEX14 NM_004565.3(PEX14):c.855C>G (p.Gly285=) SNV Uncertain significance 291679 rs201107513 GRCh37: 1:10689765-10689765
GRCh38: 1:10629708-10629708
12 PEX14 NM_004565.3(PEX14):c.*515C>T SNV Uncertain significance 291685 rs886045020 GRCh37: 1:10690559-10690559
GRCh38: 1:10630502-10630502
13 PEX14 NM_004565.3(PEX14):c.888G>T (p.Gln296His) SNV Uncertain significance 873557 GRCh37: 1:10689798-10689798
GRCh38: 1:10629741-10629741
14 PEX14 NM_004565.3(PEX14):c.26A>T (p.Gln9Leu) SNV Uncertain significance 874497 GRCh37: 1:10535049-10535049
GRCh38: 1:10474992-10474992
15 PEX14 NM_004565.3(PEX14):c.118C>T (p.Arg40Trp) SNV Uncertain significance 874498 GRCh37: 1:10596303-10596303
GRCh38: 1:10536246-10536246
16 PEX14 NM_004565.3(PEX14):c.170-13C>T SNV Uncertain significance 874499 GRCh37: 1:10659282-10659282
GRCh38: 1:10599225-10599225
17 PEX14 NM_004565.3(PEX14):c.911A>T (p.Asp304Val) SNV Uncertain significance 874556 GRCh37: 1:10689821-10689821
GRCh38: 1:10629764-10629764
18 PEX14 NM_004565.3(PEX14):c.912C>T (p.Asp304=) SNV Uncertain significance 874557 GRCh37: 1:10689822-10689822
GRCh38: 1:10629765-10629765
19 PEX14 NM_004565.3(PEX14):c.1128G>C (p.Arg376=) SNV Uncertain significance 874558 GRCh37: 1:10690038-10690038
GRCh38: 1:10629981-10629981
20 PEX14 NM_004565.3(PEX14):c.233C>T (p.Ser78Leu) SNV Uncertain significance 875427 GRCh37: 1:10659358-10659358
GRCh38: 1:10599301-10599301
21 PEX14 NM_004565.3(PEX14):c.*256A>G SNV Uncertain significance 875480 GRCh37: 1:10690300-10690300
GRCh38: 1:10630243-10630243
22 PEX14 NM_004565.3(PEX14):c.*369A>G SNV Uncertain significance 875481 GRCh37: 1:10690413-10690413
GRCh38: 1:10630356-10630356
23 PEX14 NM_004565.3(PEX14):c.*459T>C SNV Uncertain significance 875482 GRCh37: 1:10690503-10690503
GRCh38: 1:10630446-10630446
24 PEX14 NM_004565.3(PEX14):c.*570C>T SNV Uncertain significance 875483 GRCh37: 1:10690614-10690614
GRCh38: 1:10630557-10630557
25 PEX14 NM_004565.3(PEX14):c.488-14C>T SNV Uncertain significance 876453 GRCh37: 1:10684383-10684383
GRCh38: 1:10624326-10624326
26 PEX14 NM_004565.3(PEX14):c.626T>C (p.Ile209Thr) SNV Uncertain significance 876454 GRCh37: 1:10687369-10687369
GRCh38: 1:10627312-10627312
27 PEX14 NM_004565.3(PEX14):c.*616C>T SNV Uncertain significance 876501 GRCh37: 1:10690660-10690660
GRCh38: 1:10630603-10630603
28 PEX14 NM_004565.3(PEX14):c.*685A>T SNV Uncertain significance 876502 GRCh37: 1:10690729-10690729
GRCh38: 1:10630672-10630672
29 PEX14 NM_004565.3(PEX14):c.274C>G (p.Pro92Ala) SNV Uncertain significance 291673 rs199525137 GRCh37: 1:10659399-10659399
GRCh38: 1:10599342-10599342
30 PEX14 NM_004565.3(PEX14):c.990G>T (p.Glu330Asp) SNV Uncertain significance 646727 rs145761201 GRCh37: 1:10689900-10689900
GRCh38: 1:10629843-10629843
31 PEX14 NM_004565.3(PEX14):c.199T>C (p.Phe67Leu) SNV Uncertain significance 842212 GRCh37: 1:10659324-10659324
GRCh38: 1:10599267-10599267
32 PEX14 NM_004565.3(PEX14):c.274C>G (p.Pro92Ala) SNV Uncertain significance 291673 rs199525137 GRCh37: 1:10659399-10659399
GRCh38: 1:10599342-10599342
33 PEX14 NM_004565.3(PEX14):c.577G>A (p.Ala193Thr) SNV Uncertain significance 935142 GRCh37: 1:10684486-10684486
GRCh38: 1:10624429-10624429
34 PEX14 NM_004565.3(PEX14):c.269A>G (p.Gln90Arg) SNV Uncertain significance 964029 GRCh37: 1:10659394-10659394
GRCh38: 1:10599337-10599337
35 PEX14 NM_004565.3(PEX14):c.602A>C (p.Asn201Thr) SNV Uncertain significance 998966 GRCh37: 1:10687345-10687345
GRCh38: 1:10627288-10627288
36 PEX14 NM_004565.3(PEX14):c.1057G>A (p.Gly353Arg) SNV Uncertain significance 1001843 GRCh37: 1:10689967-10689967
GRCh38: 1:10629910-10629910
37 PEX14 NM_004565.3(PEX14):c.854_859dup (p.Thr287_Val288insSerSer) Duplication Uncertain significance 1008283 GRCh37: 1:10689763-10689764
GRCh38: 1:10629706-10629707
38 PEX14 NM_004565.3(PEX14):c.931A>T (p.Met311Leu) SNV Uncertain significance 1011659 GRCh37: 1:10689841-10689841
GRCh38: 1:10629784-10629784
39 PEX14 NM_004565.3(PEX14):c.1015G>A (p.Glu339Lys) SNV Uncertain significance 656027 rs1570377732 GRCh37: 1:10689925-10689925
GRCh38: 1:10629868-10629868
40 PEX14 NM_004565.3(PEX14):c.860C>T (p.Thr287Met) SNV Uncertain significance 839147 GRCh37: 1:10689770-10689770
GRCh38: 1:10629713-10629713
41 PEX14 NM_004565.3(PEX14):c.816_818GTC[1] (p.Ser275del) Microsatellite Uncertain significance 856265 GRCh37: 1:10689725-10689727
GRCh38: 1:10629668-10629670
42 PEX14 NM_004565.3(PEX14):c.860C>T (p.Thr287Met) SNV Uncertain significance 839147 GRCh37: 1:10689770-10689770
GRCh38: 1:10629713-10629713
43 PEX14 NM_004565.3(PEX14):c.517G>T (p.Val173Phe) SNV Uncertain significance 559024 rs200019568 GRCh37: 1:10684426-10684426
GRCh38: 1:10624369-10624369
44 PEX14 NM_004565.3(PEX14):c.945C>T (p.Gly315=) SNV Uncertain significance 936605 GRCh37: 1:10689855-10689855
GRCh38: 1:10629798-10629798
45 PEX14 NM_004565.3(PEX14):c.752C>T (p.Ser251Phe) SNV Uncertain significance 956875 GRCh37: 1:10689662-10689662
GRCh38: 1:10629605-10629605
46 PEX14 NM_004565.3(PEX14):c.897C>T (p.Gly299=) SNV Uncertain significance 497626 rs747580093 GRCh37: 1:10689807-10689807
GRCh38: 1:10629750-10629750
47 PEX14 NM_004565.3(PEX14):c.92C>T (p.Thr31Met) SNV Uncertain significance 1018525 GRCh37: 1:10596277-10596277
GRCh38: 1:10536220-10536220
48 PEX14 NM_004565.3(PEX14):c.18G>C (p.Gln6His) SNV Uncertain significance 500767 rs200395336 GRCh37: 1:10535041-10535041
GRCh38: 1:10474984-10474984
49 PEX14 NM_004565.3(PEX14):c.311C>T (p.Ser104Phe) SNV Uncertain significance 1024216 GRCh37: 1:10678401-10678401
GRCh38: 1:10618344-10618344
50 PEX14 NM_004565.3(PEX14):c.967A>G (p.Lys323Glu) SNV Uncertain significance 852013 GRCh37: 1:10689877-10689877
GRCh38: 1:10629820-10629820

Expression for Peroxisome Biogenesis Disorder 13a

Search GEO for disease gene expression data for Peroxisome Biogenesis Disorder 13a.

Pathways for Peroxisome Biogenesis Disorder 13a

GO Terms for Peroxisome Biogenesis Disorder 13a

Sources for Peroxisome Biogenesis Disorder 13a

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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