MCID: PRX091
MIFTS: 24

Peroxisome Biogenesis Disorder 8a

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 8a

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 8a:

Name: Peroxisome Biogenesis Disorder 8a 57 75 29 6 73
Pbd8a 57 75
Peroxisome Biogenesis Disorder Complementation Group 9 75
Peroxisome Biogenesis Disorder Complementation Group D 75
Peroxisome Biogenesis Disorder, Type 8a 40
Peroxisome Biogenesis Disorder 8a, 13
Pbd-Cgd 75
Pbd-Cg9 75
Cg9 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
clinical features based on information from nigms human genetic mutant cell repository, cell line gm06231


HPO:

32
peroxisome biogenesis disorder 8a:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 8a

UniProtKB/Swiss-Prot : 75 Peroxisome biogenesis disorder 8A: 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 9: 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 8a, also known as pbd8a, is related to peroxisome biogenesis disorder 8b, and has symptoms including icterus An important gene associated with Peroxisome Biogenesis Disorder 8a is PEX16 (Peroxisomal Biogenesis Factor 16). Affiliated tissues include liver and eye, and related phenotypes are glossoptosis and cataract

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 9 (CG9, equivalent to CGD) have mutations in the PEX16 gene. For information on the history of PBD complementation groups, see 214100. (614876)

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 8a

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
hepatomegaly
jaundice

Skin Nails Hair Skin:
jaundice

Muscle Soft Tissue:
hypotonia

Laboratory Abnormalities:
elevated serum glutamic oxaloacetic transaminase (sgot)
elevated serum glutamic pyruvic transaminase (sgpt)
elevated cerebrospinal fluid (csf) protein

Head And Neck Mouth:
glossoptosis

Cardiovascular Heart:
ventricular septal defect

Head And Neck Eyes:
cataracts

Head And Neck Head:
craniofacial dysmorphia


Clinical features from OMIM:

614876

Human phenotypes related to Peroxisome Biogenesis Disorder 8a:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 glossoptosis 32 HP:0000162
2 cataract 32 HP:0000518
3 jaundice 32 HP:0000952
4 seizures 32 HP:0001250
5 generalized hypotonia 32 HP:0001290
6 ventricular septal defect 32 HP:0001629
7 hepatomegaly 32 HP:0002240
8 feeding difficulties in infancy 32 HP:0008872
9 generalized neonatal hypotonia 32 HP:0008935
10 epiphyseal stippling 32 HP:0010655
11 severe global developmental delay 32 HP:0011344

UMLS symptoms related to Peroxisome Biogenesis Disorder 8a:


icterus

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 8a

Search Clinical Trials , NIH Clinical Center for Peroxisome Biogenesis Disorder 8a

Genetic Tests for Peroxisome Biogenesis Disorder 8a

Genetic tests related to Peroxisome Biogenesis Disorder 8a:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorder 8a 29 PEX16

Anatomical Context for Peroxisome Biogenesis Disorder 8a

MalaCards organs/tissues related to Peroxisome Biogenesis Disorder 8a:

41
Liver, Eye

Publications for Peroxisome Biogenesis Disorder 8a

Variations for Peroxisome Biogenesis Disorder 8a

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 8a:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX16 NM_004813.2(PEX16): c.526C> T (p.Arg176Ter) single nucleotide variant Pathogenic rs61752117 GRCh37 Chromosome 11, 45936170: 45936170
2 PEX16 NM_004813.2(PEX16): c.526C> T (p.Arg176Ter) single nucleotide variant Pathogenic rs61752117 GRCh38 Chromosome 11, 45914619: 45914619
3 PEX16 PEX16, IVSDS10, T-C, +2 single nucleotide variant Pathogenic

Expression for Peroxisome Biogenesis Disorder 8a

Search GEO for disease gene expression data for Peroxisome Biogenesis Disorder 8a.

Pathways for Peroxisome Biogenesis Disorder 8a

GO Terms for Peroxisome Biogenesis Disorder 8a

Sources for Peroxisome Biogenesis Disorder 8a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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