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Growth delay due to insulin-like growth factor I resistance
1 OMIM reference -
1 associated gene
69 connected diseases
14 signs/symptoms
Disease Type of connection
Juvenile myelomonocytic leukemia
Giant cell glioblastoma
Essential thrombocythemia
LEOPARD syndrome
Noonan syndrome
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Autosomal agammaglobulinemia
SHORT syndrome
Estrogen resistance syndrome
Capillary malformation - arteriovenous malformation
Parkes Weber syndrome
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Miller-Dieker syndrome
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
CEDNIK syndrome
Growth delay due to insulin-like growth factor type 1 deficiency
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Adrenocortical carcinoma
Autosomal dominant nonsyndromic intellectual deficit
B-cell chronic lymphocytic leukemia
Blackfan-Diamond anemia
Carpenter syndrome
Desmoid tumor
Distal 16p11.2 microdeletion syndrome
Distal 22q11.2 microdeletion syndrome
Dyssegmental dysplasia, Silverman-Handmaker type
EEM syndrome
Familial pancreatic carcinoma
Hepatocellular carcinoma, childhood-onset
Hypotrichosis with juvenile macular degeneration
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Proximal 16p11.2 microdeletion syndrome
Schwartz-Jampel syndrome
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Budd-Chiari syndrome
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Autosomal dominant hyper-IgE syndrome
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Common variable immunodeficiency
Hypercalcemic tumoral calcinosis
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
MODY syndrome
Permanent neonatal diabetes mellitus
Rabson-Mendenhall syndrome
Silver-Russell syndrome due to 11p15 microduplication
Silver-Russell syndrome due to imprinting defect of 11p15
- Resistance to IGF-1

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
IGF1R P08069147370
Very frequent
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Chromosomal or genetic anomaly
- Intrauterine growth retardation
- Short stature / dwarfism / nanism

- 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