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Distal 16p11.2 microdeletion syndrome
1 OMIM reference -
1 associated gene
41 connected diseases
No signs/symptoms info
Disease Type of connection
Proximal 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):
- Distal del(16)(p11.2)
- Distal monosomy 16p11.2
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SH2B1 Q9NRF2608937
No signs/symptoms info available.