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3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
14 signs/symptoms
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Growth delay due to insulin-like growth factor I resistance

H19 IGF1R
IGF2
KCNQ1OT1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
H19 IGF2 KCNQ1OT1
Growth delay due to insulin-like growth factor I resistance
IGF1R



Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Growth delay due to insulin-like growth factor I resistance

Synonym(s):
(no synonyms)

Synonym(s):
- Resistance to IGF-1

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 (Orphanet):
- Rare endocrine disease
- Rare genetic disease

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

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

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

Growth delay due to insulin-like growth factor I resistance

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
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Pectus excavatum
- Philtrum flat / large / featureless / absent cupidon bows
- Short hand / brachydactyly
- Thin / retracted lips



Beckwith-Wiedemann syndrome due to imprinting defect of 11p15

(no data available)