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Proximal 16p11.2 microdeletion syndrome
1 OMIM reference -
1 associated gene
31 signs/symptoms
PROTEIN INTERACTIONS: 1
Essential thrombocythemia
3 OMIM references -
5 associated genes
17 signs/symptoms
Proximal 16p11.2 microdeletion syndrome
Essential thrombocythemia

SH2B1
(UniProt - OMIM)
 CALR
(UniProt - OMIM)
JAK2
(UniProt - OMIM)
MPL
(UniProt - OMIM)
TET2
(UniProt - OMIM)
TP53
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SH2B1
(0.97)
JAK2


Citations in the biomedical literature:


Proximal 16p11.2 microdeletion syndrome
SH2B1
Essential thrombocythemia
CALR JAK2 MPL TET2 TP53



Proximal 16p11.2 microdeletion syndrome
Essential thrombocythemia

Synonym(s):
- Proximal del(16)(p11.2)
- Proximal monosomy 16p11.2
Synonym(s):
- ET
- Essential thrombocytosis
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -
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: 1-5 / 10 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: D013920
Proximal 16p11.2 microdeletion syndrome
Essential thrombocythemia

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
- Acute ischemic syndrome
- Angor pectoris / myocardial infarction
- Arterial embolism / thrombosis
- Bone marrow anomalies
- Cerebral vascular anomalies
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Platelet disorders / thrombopathies
- Platelets shape anomalies
- Thoracic / chest pain
- Transient amaurosis / acute visual trouble
- Transient cerebral ischemia / stroke
- Venous thrombosis / phlebitis / thrombophlebitis

Frequent
- Splenomegaly

Occasional
- Acute leukemia
- Myelodysplastic syndrome
- Myeloproliferative syndrome / chronic leukemia