MCID: PRX052
MIFTS: 23

Peroxisome Biogenesis Disorder 13a

Categories: Genetic diseases, Nephrological diseases, Liver diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Fetal diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Peroxisome Biogenesis Disorder 13a

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 13a:

Name: Peroxisome Biogenesis Disorder 13a 57 75 29 13 6 73
Pbd13a 57 75
Peroxisome Biogenesis Disorder, Complementation Group K 6
Peroxisome Biogenesis Disorder Complementation Group K 75
Peroxisome Biogenesis Disorder, Type 13a 40
Pbd-Cgk 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on detailed clinical information provided on 1 patient


HPO:

32
peroxisome biogenesis disorder 13a:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 13a

UniProtKB/Swiss-Prot : 75 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

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)

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 13a

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
hepatomegaly
cholestasis

Head And Neck Head:
flat occiput
dolicocephaly

Skeletal Skull:
large fontanels
open fontanel

Skin Nails Hair Skin:
icterus

Head And Neck Nose:
low, broad nasal bridge

Head And Neck Face:
micrognathia
high forehead
triangular face

Neurologic Central Nervous System:
hypotonia

Head And Neck Eyes:
icterus

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


Clinical features from OMIM:

614887

Human phenotypes related to Peroxisome Biogenesis Disorder 13a:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 hepatomegaly 32 HP:0002240
3 abnormality of the eye 32 HP:0000478
4 micrognathia 32 HP:0000347
5 feeding difficulties 32 HP:0011968
6 dolichocephaly 32 HP:0000268
7 jaundice 32 HP:0000952
8 abnormality of neuronal migration 32 HP:0002269
9 flat occiput 32 HP:0005469
10 high forehead 32 HP:0000348
11 large fontanelles 32 HP:0000239
12 triangular face 32 HP:0000325
13 generalized hypotonia 32 HP:0001290
14 central hypotonia 32 HP:0011398
15 delayed closure of the anterior fontanelle 32 HP:0001476
16 abnormality of the nasal bridge 32 HP:0000422

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:

41
Eye, Liver

Publications for Peroxisome Biogenesis Disorder 13a

Variations for Peroxisome Biogenesis Disorder 13a

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 13a:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX14 NM_004565.2(PEX14): c.553C> T (p.Gln185Ter) single nucleotide variant Pathogenic rs61752116 GRCh37 Chromosome 1, 10684462: 10684462
2 PEX14 NM_004565.2(PEX14): c.553C> T (p.Gln185Ter) single nucleotide variant Pathogenic rs61752116 GRCh38 Chromosome 1, 10624405: 10624405
3 PEX14 PEX14, 41-KB DEL deletion Pathogenic
4 PEX14 NM_004565.2(PEX14): c.475G> A (p.Val159Met) single nucleotide variant Benign/Likely benign rs74052157 GRCh37 Chromosome 1, 10683166: 10683166
5 PEX14 NM_004565.2(PEX14): c.475G> A (p.Val159Met) single nucleotide variant Benign/Likely benign rs74052157 GRCh38 Chromosome 1, 10623109: 10623109
6 PEX14 NM_004565.2(PEX14): c.513C> A (p.Ala171=) single nucleotide variant Benign/Likely benign rs35046754 GRCh37 Chromosome 1, 10684422: 10684422
7 PEX14 NM_004565.2(PEX14): c.513C> A (p.Ala171=) single nucleotide variant Benign/Likely benign rs35046754 GRCh38 Chromosome 1, 10624365: 10624365

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
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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45 MESH via Orphanet
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55 Novoseek
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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