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3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
9 signs/symptoms
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Insulin-resistance syndrome type A

H19 INSR
IGF2
KCNQ1OT1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
H19 IGF2 KCNQ1OT1
Insulin-resistance syndrome type A
INSR



Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Insulin-resistance syndrome type A

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
- Rare infertility

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: childhood
Average age of death: -
Type of inheritance: autosomal dominant

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

Insulin-resistance syndrome type A

Very frequent
- Advanced bone age
- Autosomal recessive inheritance
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Hirsutism / hypertrichosis / Increased body hair
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Insulin-independent / type 2 diabetes
- Late puberty / hypogonadism / hypogenitalism
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Tall stature / gigantism / growth acceleration



Beckwith-Wiedemann syndrome due to imprinting defect of 11p15

(no data available)