PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)

General Information (adopted from Orphanet):

Synonyms, Signs: PBD7A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 8, INCLUDED
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A, INCLUDED
CGA, INCLUDED
CG8, INCLUDED
Number of Symptoms 7
OrphanetNr:
OMIM Id: 614872
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:0011968) Feeding difficulties 240 / 7739
5
(HPO:0008935) Generalized neonatal hypotonia 9 / 7739
6
(HPO:0001522) Death in infancy 275 / 7739
7
(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 ...
Molecular genetics OMIM Matsumoto et al. (2003) studied 4 unrelated patients with Zellweger syndrome. Three were homozygous for mutations and one was a compound heterozygote (see 608666.0002-608666.0004).

Weller et al. (2005) identified patients with Zellweger syndrome and mutations in ...