Beckwith-Wiedemann syndrome due to 11p15 microdeletion

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 51
OrphanetNr: 231127
OMIM Id:
ICD-10: Q87.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: Antenatal
Neonatal
17158821 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Beckwith-Wiedemann syndrome
 -Rare cardiac disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare oncologic disease
 -Rare otorhinolaryngologic disease
 -Rare renal disease
Partial deletion of the short arm of chromosome 11
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Comment:

In a subset of imprinting center 1(IC1)-gain of methylation (GoM) patients, hypermethylation is caused by IC1 microdeletions leading to maternally transmitted Beckwith-Wiedemann syndrome (BWS) phenotype. Approximately 20% of IC1-GoM cases are caused by inheritable OCT4/SOX2 binding site cis genetic defects (PMID:25898929).

Symptom Information: Sort by abundance 

1
 (HPO:0003270) Abdominal distention 17158821 IBIS 46 / 7739
2
 (HPO:0000490) Deeply set eye 17158821 IBIS 131 / 7739
3
 (HPO:0000316) Hypertelorism 17158821 IBIS 644 / 7739
4
 (HPO:0000520) Proptosis 17158821 IBIS 192 / 7739
5
 (HPO:0002098) Respiratory distress 17158821 IBIS 75 / 7739
6
 (HPO:0001520) Large for gestational age Frequent [IBIS] 17158821 IBIS 34 / 7739
7
 (HPO:0001998) Neonatal hypoglycemia 17158821; 18245780 IBIS 22 / 7739
8
 (HPO:0001640) Cardiomegaly 17158821 IBIS 81 / 7739
9
 (HPO:0001629) Ventricular septal defect 17158821 IBIS 316 / 7739
10
 (HPO:0001643) Patent ductus arteriosus 17158821 IBIS 228 / 7739
11
 (HPO:0000158) Macroglossia Frequent [IBIS] 17158821; 18245780 IBIS 119 / 7739
12
 (HPO:0011342) Mild global developmental delay 17158821; 18245780 IBIS 10 / 7739
13
 (HPO:0001561) Polyhydramnios 17158821; 18245780 IBIS 191 / 7739
14
 (HPO:0001528) Hemihypertrophy 17158821; 18245780 IBIS 13 / 7739
15
 (HPO:0000303) Mandibular prognathia 17158821 IBIS 179 / 7739
16
 (HPO:0000248) Brachycephaly 17158821 IBIS 222 / 7739
17
 (HPO:0000252) Microcephaly 17158821 IBIS 832 / 7739
18
 (HPO:0001555) Asymmetry of the thorax 17158821 IBIS 15 / 7739
19
 (HPO:0000534) Abnormality of the eyebrow 17158821 IBIS 39 / 7739
20
 (HPO:0000664) Synophrys 17158821 IBIS 112 / 7739
21
 (HPO:0000952) Jaundice 17158821 IBIS 105 / 7739
22
 (HPO:0002240) Hepatomegaly 17158821; 18245780 IBIS 467 / 7739
23
 (HPO:0001744) Splenomegaly 17158821; 18245780 IBIS 337 / 7739
24
 (HPO:0003271) Visceromegaly Frequent [IBIS] 17158821; 18245780 IBIS 8 / 7739
25
 (HPO:0010866) Abdominal wall defect Frequent [IBIS] 17158821; 18245780 IBIS 5 / 7739
26
 (HPO:0001540) Diastasis recti 17158821; 18245780 IBIS 23 / 7739
27
 (HPO:0001537) Umbilical hernia 17158821; 18245780 IBIS 206 / 7739
28
 (HPO:0000028) Cryptorchidism 17158821 IBIS 347 / 7739
29
 (HPO:0000271) Abnormality of the face Frequent [IBIS] 17158821; 18245780 IBIS 108 / 7739
30
 (HPO:0000324) Facial asymmetry 17158821; 18245780 IBIS 57 / 7739
31
 (HPO:0000293) Full cheeks 17158821 IBIS 85 / 7739
32
 (HPO:0005323) Hemifacial hypertrophy 17158821 IBIS 3 / 7739
33
 (HPO:0000272) Malar flattening 17158821 IBIS 277 / 7739
34
 (HPO:0000175) Cleft palate 17158821 IBIS 349 / 7739
35
 (HPO:0000164) Abnormality of the teeth 17158821 IBIS 291 / 7739
36
 (HPO:0000448) Prominent nose 17158821 IBIS 56 / 7739
37
 (HPO:0000286) Epicanthus 17158821 IBIS 371 / 7739
38
 (HPO:0000356) Abnormality of the outer ear Frequent [IBIS] 17158821; 18245780 IBIS 85 / 7739
39
 (HPO:0009908) Anterior creases of earlobe 17158821; 18245780 IBIS 10 / 7739
40
 (HPO:0008523) Posterior helix pit 17158821 IBIS 2 / 7739
41
 (HPO:0001052) Nevus flammeus Frequent [IBIS] 18245780 IBIS 88 / 7739
42
 (HPO:0005306) Capillary hemangiomas 17158821 IBIS 8 / 7739
43
 (HPO:0000077) Abnormality of the kidney Frequent [IBIS] 18245780 IBIS 73 / 7739
44
 (HPO:0000105) Enlarged kidneys 17158821 IBIS 30 / 7739
45
 (HPO:0000790) Hematuria 17158821 IBIS 106 / 7739
46
 (HPO:0002667) Nephroblastoma 17158821; 18245780 IBIS 30 / 7739
47
 (HPO:0000069) Abnormality of the ureter 18245780 IBIS 47 / 7739
48
 (HPO:0008676) Congenital megaureter 17158821 IBIS 3 / 7739
49
 (HPO:0001548) Overgrowth Frequent [IBIS] 17158821; 18245780 IBIS 27 / 7739
50
 (HPO:0001622) Premature birth 17158821 IBIS 100 / 7739
51
 (HPO:0030025) Auricular pit 18245780 IBIS 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: