PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)

General Information (adopted from Orphanet):

Synonyms, Signs: PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP F, INCLUDED
PBD5A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 5, INCLUDED
CGF, INCLUDED
CG5, INCLUDED
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 10, INCLUDED
CG10, INCLUDED
Number of Symptoms 45
OrphanetNr:
OMIM Id: 614866
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:0000057) Clitoromegaly 30 / 7739
2
 (HPO:0004734) Renal cortical microcysts 10 / 7739
3
 (HPO:0000107) Renal cyst 126 / 7739
4
 (HPO:0000028) Cryptorchidism 347 / 7739
5
 (HPO:0000316) Hypertelorism 644 / 7739
6
 (HPO:0000311) Round face 104 / 7739
7
 (HPO:0100540) Palpebral edema 31 / 7739
8
 (HPO:0000347) Micrognathia 426 / 7739
9
 (HPO:0000175) Cleft palate 349 / 7739
10
 (HPO:0012368) Flat face 106 / 7739
11
 (HPO:0000239) Large fontanelles 135 / 7739
12
 (HPO:0000348) High forehead 157 / 7739
13
 (HPO:0000286) Epicanthus 371 / 7739
14
 (HPO:0000580) Pigmentary retinopathy 49 / 7739
15
 (HPO:0000518) Cataract 454 / 7739
16
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
17
 (HPO:0001088) Brushfield spots 8 / 7739
18
 (HPO:0001093) Optic nerve dysplasia 6 / 7739
19
 (HPO:0011039) Abnormality of the helix 33 / 7739
20
 (HPO:0000369) Low-set ears 372 / 7739
21
 (HPO:0001249) Intellectual disability 1089 / 7739
22
 (HPO:0001263) Global developmental delay 853 / 7739
23
 (HPO:0001250) Seizures 1245 / 7739
24
 (HPO:0001284) Areflexia 198 / 7739
25
 (HPO:0000954) Single transverse palmar crease 162 / 7739
26
 (HPO:0012385) Camptodactyly 113 / 7739
27
 (HPO:0010655) Epiphyseal stippling 32 / 7739
28
 (HPO:0001762) Talipes equinovarus 309 / 7739
29
 (HPO:0002967) Cubitus valgus 49 / 7739
30
 (HPO:0002764) Stippled chondral calcification 3 / 7739
31
 (HPO:0001840) Metatarsus adductus 49 / 7739
32
 (HPO:0002240) Hepatomegaly 467 / 7739
33
 (HPO:0001744) Splenomegaly 337 / 7739
34
 (HPO:0001433) Hepatosplenomegaly 78 / 7739
35
 (HPO:0000952) Jaundice 105 / 7739
36
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
37
 (HPO:0001401) Intrahepatic biliary dysgenesis 5 / 7739
38
 (HPO:0002033) Poor suck 37 / 7739
39
 (HPO:0001508) Failure to thrive 454 / 7739
40
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
41
 (HPO:0008935) Generalized neonatal hypotonia 9 / 7739
42
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
43
 (HPO:0002126) Polymicrogyria 64 / 7739
44
 (HPO:0007227) Macrogyria 9 / 7739
45
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 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 Shimozawa et al. (1992) studied a Japanese girl (M.M.), aged 8 months, with typical clinical findings of Zellweger syndrome as well as accumulation of very-long-chain fatty acids in serum, absence of liver homogenates in all 3 peroxisomal beta-oxidation ...
Molecular genetics OMIM In a Japanese patient (M.M.) with Zellweger syndrome, Shimozawa et al. (1992) identified a homozygous nonsense mutation in the PEX2 gene (170993.0001). Shimozawa et al. (1993) identified this mutation in a Dutch patient with Zellweger syndrome.