Zellweger syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: ZS
Cerebrohepatorenal syndrome
Number of Symptoms 103
OrphanetNr: 912
OMIM Id: 214100
214110
614859
614862
614866
614870
614872
614876
614882
614883
614886
614887
ICD-10: Q87.8
UMLs: C0043459
MeSH: D015211
MedDRA:
Snomed: 88469006

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Craniofacial anomaly with cataract
 -Rare eye disease
 -Rare genetic disease
Developmental anomaly of metabolic origin
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Metabolic disease with cataract
 -Rare eye disease
 -Rare genetic disease
Metabolic disease with pigmentary retinitis
 -Rare eye disease
 -Rare genetic disease
Nephropathy secondary to a storage or other metabolic disease
 -Rare genetic disease
 -Rare renal disease
Peroxisomal disease with epilepsy
 -Rare neurologic disease
Peroxisome biogenesis disorder-Zellweger syndrome spectrum
 -Rare genetic disease
 -Rare hepatic disease
 -Rare neurologic disease
Unclassified primitive or secondary maculopathy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000057) Clitoromegaly 30 / 7739
2
 (HPO:0010458) Female pseudohermaphroditism Frequent [Orphanet] 17 / 7739
3
 (HPO:0000072) Hydroureter Frequent [Orphanet] 146 / 7739
4
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
5
 (HPO:0000107) Renal cyst Frequent [Orphanet] 126 / 7739
6
 (HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
7
 (HPO:0001992) Organic aciduria Very frequent [Orphanet] 28 / 7739
8
 (HPO:0000028) Cryptorchidism 347 / 7739
9
 (HPO:0012592) Albuminuria 6 / 7739
10
 (HPO:0003355) Aminoaciduria 65 / 7739
11
 (HPO:0000126) Hydronephrosis 119 / 7739
12
 (HPO:0004734) Renal cortical microcysts 10 / 7739
13
 (HPO:0000582) Upslanted palpebral fissure Very frequent [Orphanet] 185 / 7739
14
 (HPO:0010808) Protruding tongue 28 / 7739
15
 (HPO:0005469) Flat occiput 30 / 7739
16
 (HPO:0000347) Micrognathia 426 / 7739
17
 (HPO:0005989) Redundant neck skin Occasional [Orphanet] 40 / 7739
18
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
19
 (HPO:0000463) Anteverted nares 305 / 7739
20
 (HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
21
 (HPO:0009891) Underdeveloped supraorbital ridges Frequent [Orphanet] 36 / 7739
22
 (HPO:0000316) Hypertelorism 644 / 7739
23
 (HPO:0000311) Round face 104 / 7739
24
 (HPO:0000272) Malar flattening 277 / 7739
25
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
26
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
27
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
28
 (HPO:0000244) Brachyturricephaly 9 / 7739
29
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
30
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
31
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
32
 (HPO:0004492) Widely patent fontanelles and sutures 11 / 7739
33
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
34
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
35
 (HPO:0000158) Macroglossia Occasional [Orphanet] 119 / 7739
36
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
37
 (HPO:0000218) High palate 356 / 7739
38
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
39
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
40
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
41
 (HPO:0000543) Optic disc pallor 67 / 7739
42
 (HPO:0000479) Abnormality of the retina Frequent [Orphanet] 74 / 7739
43
 (HPO:0001088) Brushfield spots Occasional [Orphanet] 8 / 7739
44
 (HPO:0000580) Pigmentary retinopathy 49 / 7739
45
 (HPO:0000512) Abnormal electroretinogram 61 / 7739
46
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
47
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
48
 (HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 124 / 7739
49
 (HPO:0000627) Posterior embryotoxon Frequent [Orphanet] 15 / 7739
50
 (HPO:0000356) Abnormality of the outer ear Very frequent [Orphanet] 85 / 7739
51
 (HPO:0011039) Abnormality of the helix 33 / 7739
52
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
53
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
54
 (HPO:0001284) Areflexia 198 / 7739
55
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
56
 (HPO:0001265) Hyporeflexia 208 / 7739
57
 (HPO:0002015) Dysphagia Very frequent [Orphanet] 301 / 7739
58
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
59
 (HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
60
 (HPO:0010864) Intellectual disability, severe 120 / 7739
61
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
62
 (HPO:0008207) Primary adrenal insufficiency Occasional [Orphanet] 26 / 7739
63
 (HPO:0000835) Adrenal hypoplasia 23 / 7739
64
 (HPO:0001762) Talipes equinovarus 309 / 7739
65
 (HPO:0001838) Rocker bottom foot 85 / 7739
66
 (HPO:0001840) Metatarsus adductus 49 / 7739
67
 (HPO:0010655) Epiphyseal stippling Very frequent [Orphanet] 32 / 7739
68
 (HPO:0002967) Cubitus valgus 49 / 7739
69
 (HPO:0001591) Bell-shaped thorax 35 / 7739
70
 (HPO:0001193) Ulnar deviation of the hand or of fingers of the hand 17 / 7739
71
 (HPO:0000954) Single transverse palmar crease 162 / 7739
72
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
73
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
74
 (HPO:0001622) Premature birth Frequent [Orphanet] 100 / 7739
75
 (HPO:0001623) Breech presentation 16 / 7739
76
 (HPO:0006579) Prolonged neonatal jaundice 25 / 7739
77
 (HPO:0001396) Cholestasis Very frequent [Orphanet] 136 / 7739
78
 (HPO:0002021) Pyloric stenosis Frequent [Orphanet] 51 / 7739
79
 (HPO:0001399) Hepatic failure Very frequent [Orphanet] 80 / 7739
80
 (HPO:0001401) Intrahepatic biliary dysgenesis 5 / 7739
81
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
82
 (HPO:0002024) Malabsorption Frequent [Orphanet] 142 / 7739
83
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
84
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
85
 (HPO:0001508) Failure to thrive 454 / 7739
86
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
87
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
88
 (HPO:0001928) Abnormality of coagulation Occasional [Orphanet] 44 / 7739
89
 (HPO:0003455) Elevated long chain fatty acids 8 / 7739
90
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
91
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
92
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
93
 (HPO:0001522) Death in infancy Very frequent [Orphanet] 275 / 7739
94
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
95
 (HPO:0002126) Polymicrogyria 64 / 7739
96
 (HPO:0001425) Heterogeneous 132 / 7739
97
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
98
 (HPO:0002536) Abnormal cortical gyration Frequent [Orphanet] 72 / 7739
99
 (HPO:0002282) Heterotopia 21 / 7739
100
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739
101
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum 180 / 7739
102
 (HPO:0002416) Subependymal cysts 6 / 7739
103
 (HPO:0006894) Hypoplastic olfactory lobes 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: