ODCs

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Proximal 16p11.2 microdeletion syndrome

1 OMIM reference -
1 associated gene
31 signs/symptoms

PROTEIN INTERACTIONS: 1

Insulin-resistance syndrome type A

1 OMIM reference -
1 associated gene
9 signs/symptoms

Proximal 16p11.2 microdeletion syndrome

Insulin-resistance syndrome type A

SH2B1

(UniProt - OMIM)

INSR

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SH2B1	(0.9)	INSR

Citations in the biomedical literature:

Proximal 16p11.2 microdeletion syndrome		Insulin-resistance syndrome type A
	Synonym(s): - Proximal del(16)(p11.2) - Proximal monosomy 16p11.2		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic 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: 1-5 / 10 000 Average age onset: childhood Average age of death: adult Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

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

Proximal 16p11.2 microdeletion syndrome		Insulin-resistance syndrome type A
	Very frequent - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Autism / autistic disoders - Broad forehead - EEG anomalies - Macrocephaly / macrocrania / megalocephaly / megacephaly - Mid-facial hypoplasia / short / small midface - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Atrial septal defect / interauricular communication - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Coloboma of the optic nerve - Diaphragmatic hernia / defect / agenesis - Dilated cerebral ventricles without hydrocephaly - Failure to thrive / difficulties for feeding in infancy / growth delay - Gastric / pyloric stenosis - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Generalized obesity - Hyperactivity / attention deficit - Hypertelorism - Hypotonia - Micrognathia / retrognathia / micrognathism / retrognathism - Myopia - Psychosis / schizophrenia / maniac disorder - Scoliosis - Strabismus / squint - Syringomelia - Upper limb polydactyly / hexadactyly - Vertebral segmentation anomaly / hemivertebrae		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