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Hemihypertrophy
1 OMIM reference -
3 associated genes
14 signs/symptoms
COMMON GENES: 3
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
3 associated genes
No signs/symptoms info
Hemihypertrophy
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15

H19
(OMIM)
 H19
(OMIM)
IGF2
(UniProt - OMIM)
 IGF2
(UniProt - OMIM)
KCNQ1OT1
(OMIM)
 KCNQ1OT1
(OMIM)

COMMON
GENES 		H19
IGF2
KCNQ1OT1


Citations in the biomedical literature:


Hemihypertrophy
H19 IGF2 KCNQ1OT1
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15



Hemihypertrophy
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15

Synonym(s):
- Hemi 3 syndrome
- Hemicorporal hypertrophy
- Isolated hemihyperplasia
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare oncologic disease
Classification (Orphanet):
- 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
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
Hemihypertrophy

Very frequent
- Asymmetric rib cage / thorax
- Asymmetry of the body / hemiatrophy / hemihyperthrophy
- Scoliosis

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Intellectual deficit / mental / psychomotor retardation / learning disability

Occasional
- Areflexia / hyporeflexia
- Bladder and ureter anomalies
- Congenital cardiac anomaly / malformation / cardiopathy
- Inguinal / inguinoscrotal / crural hernia
- Insensitivity to pain
- Myelomeningocele
- Nephroblastoma / Wilms tumor
- Undescended / ectopic testes / cryptorchidia / unfixed testes


Beckwith-Wiedemann syndrome due to imprinting defect of 11p15

(no data available)