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Hemihypertrophy
1 OMIM reference -
3 associated genes
14 connected diseases
14 signs/symptoms
Disease Type of connection
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Silver-Russell syndrome due to 11p15 microduplication
Silver-Russell syndrome due to imprinting defect of 11p15
Congenital atransferrinemia
Familial retinal arterial macroaneurysm
Congenital stromal corneal dystrophy
Growth delay due to insulin-like growth factor I resistance
Hyperinsulinism due to INSR deficiency
Hypoplasminogenemia
Insulin-resistance syndrome type A
Leprechaunism
Ligneous conjunctivitis
Rabson-Mendenhall syndrome
Simpson-Golabi-Behmel syndrome
Synonym(s):
- Hemi 3 syndrome
- Hemicorporal hypertrophy
- Isolated hemihyperplasia
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
H19 103280
IGF2 P01344147470
KCNQ1OT1 604115
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