PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER)

General Information (adopted from Orphanet):

Synonyms, Signs: PBD8A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 9, INCLUDED
CGD, INCLUDED
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP D, INCLUDED
CG9, INCLUDED
Number of Symptoms 9
OrphanetNr:
OMIM Id: 614876
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001250) Seizures 1245 / 7739
2
(HPO:0011344) Severe global developmental delay 46 / 7739
3
(HPO:0010655) Epiphyseal stippling 32 / 7739
4
(HPO:0008872) Feeding difficulties in infancy 153 / 7739
5
(HPO:0002240) Hepatomegaly 467 / 7739
6
(HPO:0001629) Ventricular septal defect 9837814 IBIS 316 / 7739
7
(HPO:0008935) Generalized neonatal hypotonia 9 / 7739
8
(HPO:0001522) Death in infancy 275 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Honsho et al. (1998) analyzed a cell line from a patient with Zellweger syndrome of complementation group D obtained from the NIGMS Human Genetic Mutant Cell Repository. The catalog of the NIGMS Repository stated that the patient was ...
Molecular genetics OMIM In a cell line from a patient with Zellweger syndrome, Honsho et al. (1998) identified a homozygous nonsense mutation in the PEX16 gene (603360.0001).

Shimozawa et al. (2002) identified a homozygous splice site mutation in 2 ...