PBD13A
MCID: PRX052
MIFTS: 24

Peroxisome Biogenesis Disorder 13a (PBD13A)

Categories: Endocrine 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 58 12 76 30 13 6 74
Pbd13a 58 76
Peroxisome Biogenesis Disorder, Complementation Group K 6
Peroxisome Biogenesis Disorder Complementation Group K 76
Peroxisome Biogenesis Disorder, Type 13a 41
Pbd-Cgk 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on detailed clinical information provided on 1 patient


HPO:

33
peroxisome biogenesis disorder 13a:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 13a

UniProtKB/Swiss-Prot : 76 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 liver, and related phenotypes are seizures and hepatomegaly

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

OMIM : 58 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)

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 13a

Human phenotypes related to Peroxisome Biogenesis Disorder 13a:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 hepatomegaly 33 HP:0002240
3 abnormality of the eye 33 HP:0000478
4 micrognathia 33 HP:0000347
5 feeding difficulties 33 HP:0011968
6 dolichocephaly 33 HP:0000268
7 jaundice 33 HP:0000952
8 abnormality of neuronal migration 33 HP:0002269
9 flat occiput 33 HP:0005469
10 high forehead 33 HP:0000348
11 large fontanelles 33 HP:0000239
12 triangular face 33 HP:0000325
13 generalized hypotonia 33 HP:0001290
14 central hypotonia 33 HP:0011398
15 delayed closure of the anterior fontanelle 33 HP:0001476
16 abnormality of the nasal bridge 33 HP:0000422

Symptoms via clinical synopsis from OMIM:

58
Abdomen Liver:
hepatomegaly
cholestasis

Head And Neck Head:
flat occiput
dolicocephaly

Head And Neck Eyes:
icterus

Skeletal Skull:
large fontanels
open fontanel

Head And Neck Nose:
low, broad nasal bridge

Head And Neck Face:
micrognathia
high forehead
triangular face

Neurologic Central Nervous System:
hypotonia

Skin Nails Hair Skin:
icterus

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

Clinical features from OMIM:

614887

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 30 PEX14

Anatomical Context for Peroxisome Biogenesis Disorder 13a

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

42
Eye, Liver

Publications for Peroxisome Biogenesis Disorder 13a

Variations for Peroxisome Biogenesis Disorder 13a

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 13a:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX14 NM_004565.2(PEX14): c.575C> G (p.Ala192Gly) single nucleotide variant Uncertain significance rs147706488 GRCh37 Chromosome 1, 10684484: 10684484
2 PEX14 NM_004565.2(PEX14): c.575C> G (p.Ala192Gly) single nucleotide variant Uncertain significance rs147706488 GRCh38 Chromosome 1, 10624427: 10624427
3 PEX14 NM_004565.2(PEX14): c.553C> T (p.Gln185Ter) single nucleotide variant Pathogenic rs61752116 GRCh37 Chromosome 1, 10684462: 10684462
4 PEX14 NM_004565.2(PEX14): c.553C> T (p.Gln185Ter) single nucleotide variant Pathogenic rs61752116 GRCh38 Chromosome 1, 10624405: 10624405
5 PEX14 PEX14, 41-KB DEL deletion Pathogenic
6 PEX14 NM_004565.2(PEX14): c.475G> A (p.Val159Met) single nucleotide variant Benign/Likely benign rs74052157 GRCh38 Chromosome 1, 10623109: 10623109
7 PEX14 NM_004565.2(PEX14): c.475G> A (p.Val159Met) single nucleotide variant Benign/Likely benign rs74052157 GRCh37 Chromosome 1, 10683166: 10683166
8 PEX14 NM_004565.2(PEX14): c.513C> A (p.Ala171=) single nucleotide variant Benign/Likely benign rs35046754 GRCh38 Chromosome 1, 10624365: 10624365
9 PEX14 NM_004565.2(PEX14): c.513C> A (p.Ala171=) single nucleotide variant Benign/Likely benign rs35046754 GRCh37 Chromosome 1, 10684422: 10684422
10 PEX14 NM_004565.2(PEX14): c.247G> A (p.Ala83Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 10599315: 10599315
11 PEX14 NM_004565.2(PEX14): c.247G> A (p.Ala83Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 10659372: 10659372

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

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10 dbSNP
11 DGIdb
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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