Cytoscape Web
Click node...


1 OMIM reference -
3 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Hemihypertrophy
Hyperinsulinism due to INSR deficiency

H19 INSR
IGF2
KCNQ1OT1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IGF2
(0.52)
INSR



Citations in the biomedical literature:


Hemihypertrophy
H19 IGF2 KCNQ1OT1
Hyperinsulinism due to INSR deficiency
INSR



Hemihypertrophy
Hyperinsulinism due to INSR deficiency

Synonym(s):
- Hemi 3 syndrome
- Hemicorporal hypertrophy
- Isolated hemihyperplasia

Synonym(s):
- Hyperinsulinemic hypoglycemia due to INSR deficiency
- Hyperinsulinemic hypoglycemia due to insulin receptor deficiency

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare oncologic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
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


Hyperinsulinism due to INSR deficiency

(no data available)