PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)

General Information (adopted from Orphanet):

Synonyms, Signs: PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP G, INCLUDED
PBD10A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 12, INCLUDED
CG12, INCLUDED
CGG, INCLUDED
Number of Symptoms 12
OrphanetNr:
OMIM Id: 614882
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:0000348) High forehead 157 / 7739
2
(HPO:0000316) Hypertelorism 644 / 7739
3
(HPO:0007930) Prominent epicanthal folds 4 / 7739
4
(HPO:0000337) Broad forehead 116 / 7739
5
(HPO:0011344) Severe global developmental delay 46 / 7739
6
(HPO:0001250) Seizures 1245 / 7739
7
(HPO:0010655) Epiphyseal stippling 32 / 7739
8
(HPO:0002240) Hepatomegaly 467 / 7739
9
(HPO:0011968) Feeding difficulties 240 / 7739
10
(HPO:0008935) Generalized neonatal hypotonia 9 / 7739
11
(HPO:0001522) Death in infancy 275 / 7739
12
(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 Muntau et al. (2000) reported 2 unrelated patients with Zellweger syndrome of complementation group G. The patients were male infants from unrelated consanguineous Dutch and Italian families. One showed marked muscular hypotonia at birth. Dysmorphic features included hypertelorism, ...
Molecular genetics OMIM In 2 unrelated patients with Zellweger syndrome of complementation group G, Muntau et al. (2000) identified 2 different homozygous mutations in the PEX3 gene (603164.0001, 603164.0002).