PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)

General Information (adopted from Orphanet):

Synonyms, Signs: CG7, INCLUDED
CGB, INCLUDED
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP B, INCLUDED
PBD6A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 7, INCLUDED
Number of Symptoms 8
OrphanetNr:
OMIM Id: 614870
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:0008935) Generalized neonatal hypotonia 9 / 7739
7
(HPO:0001302) Pachygyria 60 / 7739
8
(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 Nakai et al. (1995) described findings on MRI of the brain from a patient whose cells were shown to belong to complementation group B (complementation group 7 in the American nomenclature). The MRI showed marked colpocephaly, pachygyria in ...
Molecular genetics OMIM In a patient with Zellweger syndrome of complementation group 7, Warren et al. (1998) found homozygosity for a splice donor-site mutation in the PEX10 gene (602859.0001).

In cells from a patient with Zellweger syndrome of complementation ...