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Hyperinsulinism due to HNF4A deficiency

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Multiple osteochondromas

3 OMIM references -
2 associated genes
38 signs/symptoms

Hyperinsulinism due to HNF4A deficiency

Multiple osteochondromas

HNF4A	(UniProt - OMIM)		EXT1	(UniProt - OMIM)
			EXT2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HNF4A	(0.76)	EXT2

Citations in the biomedical literature:

Hyperinsulinism due to HNF4A deficiency		Multiple osteochondromas
	Synonym(s): - Hyperinsulinemic hypoglycemia due to HNF4A deficiency		Synonym(s): - Bessel-Hagen disease - EXT1/EXT2-CDG - Multiple cartilaginous exostoses

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 3 OMIM references - No MeSH references

Multiple osteochondromas
	Very frequent - Anomalies of cartilages, joints and periarticular tissue - Autosomal dominant inheritance - Failure to thrive / difficulties for feeding in infancy / growth delay - Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Anteverted nares / nostrils - Arthritis / synovitis / synovial proliferation - Bone pain - Bone tumefaction / swelling - Cranial nerves palsy - Exostoses - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Genu valgum - Insterstitial / subtelomeric microdeletion / deletion - Madelung's deformity - Metaphyseal anomaly - Muscle weakness / flaccidity - Osteonecrosis / bone infarction - Periarticular tissue anomaly / extraarticular calcifications - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray - Upper limb segmental anomalies Occasional - Arterial aneurism (excluding aorta) - Bone / osseous neoplasm / tumor / carcinoma / cancer - Elbow dislocation - Hemiplegia / diplegia / hemiparesia / limb palsy - Mutiple fractures / bone fragility - Neoplasms / tumors - Osteoarthritis - Osteolysis / osteoclasia / bone destruction / erosions - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion - Pyramidal syndrome - Scoliosis - Synostosis
Hyperinsulinism due to HNF4A deficiency
(no data available)