PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)

General Information (adopted from Orphanet):

Synonyms, Signs: CG1, INCLUDED
CGE, INCLUDED
CEREBROHEPATORENAL SYNDROME
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP E, INCLUDED
CHR PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 1, INCLUDED
ZWS
PBD1A
ZS
Number of Symptoms 73
OrphanetNr:
OMIM Id: 214100
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
Heterogeneous
[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:0000126) Hydronephrosis 119 / 7739
3
(HPO:0000028) Cryptorchidism 347 / 7739
4
(HPO:0000047) Hypospadias 250 / 7739
5
(HPO:0004734) Renal cortical microcysts 10 / 7739
6
(HPO:0003355) Aminoaciduria 65 / 7739
7
(HPO:0012592) Albuminuria 6 / 7739
8
(HPO:0005989) Redundant neck skin 40 / 7739
9
(HPO:0000239) Large fontanelles 135 / 7739
10
(HPO:0000348) High forehead 157 / 7739
11
(HPO:0000347) Micrognathia 426 / 7739
12
(HPO:0010537) Wide cranial sutures 21 / 7739
13
(HPO:0005469) Flat occiput 30 / 7739
14
(HPO:0000286) Epicanthus 371 / 7739
15
(HPO:0000582) Upslanted palpebral fissure 185 / 7739
16
(HPO:0000316) Hypertelorism 644 / 7739
17
(HPO:0000244) Brachyturricephaly 9 / 7739
18
(HPO:0000463) Anteverted nares 305 / 7739
19
(HPO:0000256) Macrocephaly 298 / 7739
20
(HPO:0000311) Round face 104 / 7739
21
(HPO:0000218) High palate 356 / 7739
22
(HPO:0012368) Flat face 106 / 7739
23
(HPO:0010808) Protruding tongue 28 / 7739
24
(HPO:0000639) Nystagmus 555 / 7739
25
(HPO:0001088) Brushfield spots 8 / 7739
26
(HPO:0000501) Glaucoma 180 / 7739
27
(HPO:0000543) Optic disc pallor 67 / 7739
28
(HPO:0007957) Corneal opacity 84 / 7739
29
(HPO:0000580) Pigmentary retinopathy 49 / 7739
30
(HPO:0000518) Cataract 454 / 7739
31
(HPO:0000512) Abnormal electroretinogram 61 / 7739
32
(HPO:0011039) Abnormality of the helix 33 / 7739
33
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
34
(HPO:0000358) Posteriorly rotated ears 163 / 7739
35
(HPO:0010864) Intellectual disability, severe 120 / 7739
36
(HPO:0001250) Seizures 1245 / 7739
37
(HPO:0000835) Adrenal hypoplasia 23 / 7739
38
(HPO:0002750) Delayed skeletal maturation 250 / 7739
39
(HPO:0001838) Rocker bottom foot 85 / 7739
40
(HPO:0001193) Ulnar deviation of the hand or of fingers of the hand 17 / 7739
41
(HPO:0001591) Bell-shaped thorax 35 / 7739
42
(HPO:0001840) Metatarsus adductus 49 / 7739
43
(HPO:0000954) Single transverse palmar crease 162 / 7739
44
(HPO:0002967) Cubitus valgus 49 / 7739
45
(HPO:0010655) Epiphyseal stippling 32 / 7739
46
(HPO:0001762) Talipes equinovarus 309 / 7739
47
(HPO:0001623) Breech presentation 16 / 7739
48
(HPO:0001401) Intrahepatic biliary dysgenesis 5 / 7739
49
(HPO:0002240) Hepatomegaly 467 / 7739
50
(HPO:0006579) Prolonged neonatal jaundice 25 / 7739
51
(HPO:0001508) Failure to thrive 454 / 7739
52
(HPO:0001629) Ventricular septal defect 316 / 7739
53
(HPO:0001643) Patent ductus arteriosus 228 / 7739
54
(HPO:0003455) Elevated long chain fatty acids 8 / 7739
55
(HPO:0002089) Pulmonary hypoplasia 80 / 7739
56
(HPO:0001252) Muscular hypotonia 990 / 7739
57
(HPO:0001324) Muscle weakness 859 / 7739
58
(HPO:0010547) Muscle flaccidity 466 / 7739
59
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
60
(HPO:0002269) Abnormality of neuronal migration 10 / 7739
61
(OMIM) Decreased dihydroxyacetone phosphate acyltransferase (DHAP-AT) activity 1 / 7739
62
(OMIM) Decreased plasmalogen 2 / 7739
63
(OMIM) Absent renal peroxisomes 1 / 7739
64
(OMIM) Hyporeflexia or areflexia 2 / 7739
65
(HPO:0002416) Subependymal cysts 6 / 7739
66
(HPO:0006894) Hypoplastic olfactory lobes 2 / 7739
67
(OMIM) Absent liver peroxisomes 1 / 7739
68
(OMIM) Pyloric hypertrophy 2 / 7739
69
(HPO:0002126) Polymicrogyria 64 / 7739
70
(OMIM) Elevated serum iron and iron binding capacity 1 / 7739
71
(OMIM) Pipecolic acidemia 1 / 7739
72
(MedDRA:10064796) Phytanic acid increased 1 / 7739
73
(HPO:0007370) Aplasia/Hypoplasia of the corpus callosum 180 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Zellweger syndrome is an autosomal recessive systemic disorder characterized clinically by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisomes. Most severely affected individuals with classic Zellweger syndrome phenotype die within the ...
Clinical Description OMIM Bowen et al. (1964) described 2 families, each with 2 sibs displaying an unusual malformation syndrome. Cardinal features were failure to thrive, absent or weak sucking and swallowing, finger flexion, congenital glaucoma, malformed ears, small mandible, heart malformations, ...
Molecular genetics OMIM Reuber et al. (1997) found that expression of human PEX1 restored peroxisomal protein import in fibroblasts from 30 patients with peroxisomal biogenesis disorders of complementation group 1 (CG1). Additionally, they detected PEX1 mutations in multiple CG1 probands. ...
Diagnosis GeneReviews Biochemical testing. Biochemical assays can determine definitively whether an individual has a peroxisomal biogenesis disorder, Zellweger syndrome spectrum (PBD, ZSS). ...
Clinical Description GeneReviews Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD, ZSS) are defined by a continuum of three phenotypes described before the biochemical and molecular bases of these disorders had been fully determined: Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) [Gould et al 2001]. ...
Genotype-Phenotype Correlations GeneReviews Mutations in the two most commonly involved genes, PEX1 and PEX6, are associated with the full continuum of clinical phenotypes. This clinical variability, in general, is also found in individuals with mutations in PEX10, PEX12, and PEX26....
Differential Diagnosis GeneReviews Differential diagnoses vary with the age of presentation and most prominent feature of presentation. ...
Management GeneReviews To establish the extent of disease in an individual diagnosed with peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD, ZSS), evaluations of the following are recommended:...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....