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Proximal 16p11.2 microdeletion syndrome
1 OMIM reference -
1 associated gene
31 signs/symptoms
PROTEIN INTERACTIONS: 1
Polycythemia vera
1 OMIM reference -
3 associated genes
25 signs/symptoms
Proximal 16p11.2 microdeletion syndrome
Polycythemia vera

SH2B1
(UniProt - OMIM)
 JAK2
(UniProt - OMIM)
MPL
(UniProt - OMIM)
TET2
(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
Polycythemia vera
JAK2 MPL TET2



Proximal 16p11.2 microdeletion syndrome
Polycythemia vera

Synonym(s):
- Proximal del(16)(p11.2)
- Proximal monosomy 16p11.2
Synonym(s):
- Acquired primary erythocytosis
- Erythremia
- Osler-Vaquez disease
- PV
- Polycythemia rubra vera
- Vaquez disease
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: variable
Average age of death: normal
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D011087
Proximal 16p11.2 microdeletion syndrome
Polycythemia vera

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 abdominal pain / colic
- Acute leukemia
- Angor pectoris / myocardial infarction
- Chronic arterial hypertension
- Dizziness
- Ecchymoses
- Epistaxis / nose bleeding
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Facial pain / cephalalgia / migraine
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Gingivorrhagia / gingival bleeding
- Hepatomegaly / liver enlargement (excluding storage disease)
- Myelodysplastic syndrome
- Splenomegaly
- Tinnitus
- Weight loss / loss of appetite / break in weight curve / general health alteration

Frequent
- Articular / joint pain / arthralgia
- Asthenia / fatigue / weakness
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Occasional
- Arterial embolism / thrombosis
- Claudication / pain on mastication / while chewing
- Portal hypertension
- Pruritus / itching
- Transient cerebral ischemia / stroke
- Venous thrombosis / phlebitis / thrombophlebitis