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Proximal 16p11.2 microdeletion syndrome
1 OMIM reference -
1 associated gene
41 connected diseases
31 signs/symptoms
Disease Type of connection
Distal 16p11.2 microdeletion syndrome
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Giant cell glioblastoma
Gliosarcoma
Budd-Chiari syndrome
Essential thrombocythemia
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Leprechaunism
Rabson-Mendenhall syndrome
Familial medullary thyroid carcinoma
Hereditary sensory and autonomic neuropathy type 4
Hereditary sensory and autonomic neuropathy type 5
Papillary or follicular thyroid carcinoma
Achondroplasia
Camptodactyly - tall stature - scoliosis - hearing loss
Crouzon syndrome - acanthosis nigricans
Cutis gyrata - acanthosis nigricans - craniosynostosis
Hypochondroplasia
Isolated brachycephaly
Isolated cloverleaf skull syndrome
Isolated plagiocephaly
Lacrimo-auriculo-dento-digital syndrome
Muenke syndrome
Saethre-Chotzen syndrome
Severe achondroplasia - developmental delay - acanthosis nigricans
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Pilocytic astrocytoma
Familial papillary renal cell carcinoma
Hepatocellular carcinoma, childhood-onset
Familial pancreatic carcinoma
Familial prostate cancer
Growth delay due to insulin-like growth factor I resistance
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Synonym(s):
- Proximal del(16)(p11.2)
- Proximal monosomy 16p11.2
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SH2B1 Q9NRF2608937
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