PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)

General Information (adopted from Orphanet):

Synonyms, Signs: PBD3A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 3, INCLUDED
CG3, INCLUDED
Number of Symptoms 6
OrphanetNr:
OMIM Id: 614859
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:0010655) Epiphyseal stippling 32 / 7739
3
(HPO:0002240) Hepatomegaly 467 / 7739
4
(HPO:0008872) Feeding difficulties in infancy 153 / 7739
5
(HPO:0008935) Generalized neonatal hypotonia 9 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The peroxisomal biogenesis disorder (PBD) 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 ...
Molecular genetics OMIM Chang et al. (1997) found that PEX12 expression restored peroxisomal protein import in fibroblasts from PBD patients of complementation group 3 (CG3) and identified frameshift mutations in PEX12 in 2 unrelated CG3 patients (e.g., 601758.0001).

Okumoto ...