Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
14 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
3 associated genes
No signs/symptoms info
Growth delay due to insulin-like growth factor I resistance
Hypercalcemic tumoral calcinosis

IGF1R FGF23
GALNT3
KL


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Growth delay due to insulin-like growth factor I resistance
IGF1R
Hypercalcemic tumoral calcinosis
FGF23 GALNT3 KL



Growth delay due to insulin-like growth factor I resistance
Hypercalcemic tumoral calcinosis

Synonym(s):
- Resistance to IGF-1

Synonym(s):
- GALNT3-CDG

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

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:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
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



Hypercalcemic tumoral calcinosis

(no data available)