PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)

General Information (adopted from Orphanet):

Synonyms, Signs: CGJ, INCLUDED
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP J, INCLUDED
CG14, INCLUDED
PBD12A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 14, INCLUDED
Number of Symptoms 17
OrphanetNr:
OMIM Id: 614886
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000124) Renal tubular dysfunction 46 / 7739
2
(HPO:0009553) Abnormality of the hairline 30 / 7739
3
(HPO:0000325) Triangular face 91 / 7739
4
(HPO:0000431) Wide nasal bridge 290 / 7739
5
(HPO:0000267) Cranial asymmetry 6 / 7739
6
(HPO:0001476) Delayed closure of the anterior fontanelle 23 / 7739
7
(HPO:0011398) Central hypotonia 12 / 7739
8
(HPO:0001250) Seizures 1245 / 7739
9
(HPO:0001263) Global developmental delay 853 / 7739
10
(HPO:0003103) Abnormal cortical bone morphology 38 / 7739
11
(HPO:0001081) Cholelithiasis 36 / 7739
12
(HPO:0002910) Elevated hepatic transaminases 158 / 7739
13
(HPO:0001510) Growth delay 295 / 7739
14
(HPO:0002904) Hyperbilirubinemia 32 / 7739
15
(HPO:0003455) Elevated long chain fatty acids 8 / 7739
16
(HPO:0002059) Cerebral atrophy 171 / 7739
17
(HPO:0007305) CNS demyelination 21 / 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 Mohamed et al. (2010) studied a patient with Zellweger syndrome, an infant girl from consanguineous Saudi parents. The patient had neonatal hypotonia, poor growth, and subtle dysmorphic features, including cranial asymmetry, triangular face, low hairline, open fontanels, and ...
Molecular genetics OMIM Kinoshita et al. (1998) identified complementation group J (CGJ) from patients with Zellweger syndrome. Two Chinese hamster ovary cell mutants were also found to belong to this group. In no CGJ mutant cell were peroxisomal ghosts found. ...