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1 OMIM reference -
1 associated gene
14 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
3 associated genes
14 signs/symptoms
Growth delay due to insulin-like growth factor I resistance
Hemihypertrophy

IGF1R H19
IGF2
KCNQ1OT1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IGF1R
(0.52)
IGF2



Citations in the biomedical literature:


Growth delay due to insulin-like growth factor I resistance
IGF1R
Hemihypertrophy
H19 IGF2 KCNQ1OT1



Growth delay due to insulin-like growth factor I resistance
Hemihypertrophy

Synonym(s):
- Resistance to IGF-1

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

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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


COMMON
SIGNS
- Intellectual deficit / mental / psychomotor retardation / learning disability


Growth delay due to insulin-like growth factor I resistance
Hemihypertrophy

Very frequent
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Chromosomal or genetic anomaly
- Intrauterine growth retardation
- Short stature / dwarfism / nanism

Frequent
- Abnormally placed nipples
- Broad nasal root
- Everted lower lip
- Microcephaly
- Pectus excavatum
- Philtrum flat / large / featureless / absent cupidon bows
- Short hand / brachydactyly
- Thin / retracted lips



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

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