PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)

General Information (adopted from Orphanet):

Synonyms, Signs: PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP C, INCLUDED
CG4, INCLUDED
CGC, INCLUDED
PBD4A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 4, INCLUDED
CG6, INCLUDED
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 6, INCLUDED
Number of Symptoms 12
OrphanetNr:
OMIM Id: 614862
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:0000107) Renal cyst 126 / 7739
2
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
3
 (HPO:0005280) Depressed nasal bridge 381 / 7739
4
 (HPO:0000316) Hypertelorism 644 / 7739
5
 (HPO:0000537) Epicanthus inversus 7 / 7739
6
 (HPO:0001250) Seizures 1245 / 7739
7
 (HPO:0010655) Epiphyseal stippling 32 / 7739
8
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
9
 (HPO:0002240) Hepatomegaly 467 / 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) The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. 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 Fukuda et al. (1996) described a patient with Zellweger syndrome of complementation group C, a Japanese girl of nonconsanguineous parents. In the neonatal period she showed severe asphyxia, profound hypotonia, and clonic convulsions. Cranial dysmorphism including low nasal ...
Molecular genetics OMIM Yahraus et al. (1996) observed that expression of PXAAA1 (PEX6; 601498) restored peroxisomal protein import in fibroblasts from 16 unrelated members of complementation group 4 of the peroxisomal biogenesis disorders (PBDs). They identified compound heterozygosity for mutation in ...