ODCs

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Proximal 16p11.2 microdeletion syndrome

1 OMIM reference -
1 associated gene
31 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Familial thrombocytosis

4 OMIM references -
3 associated genes
26 signs/symptoms

Proximal 16p11.2 microdeletion syndrome

Familial thrombocytosis

SH2B1	(UniProt - OMIM)	JAK2	(UniProt - OMIM)
		MPL	(UniProt - OMIM)
		THPO	(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		Familial thrombocytosis
	Synonym(s): - Proximal del(16)(p11.2) - Proximal monosomy 16p11.2		Synonym(s): - Familial thrombocythemia - Hereditary thrombocythemia

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare hematologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	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: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 4 OMIM references - No MeSH references


COMMON SIGNS	- Seizures / epilepsy / absences / spasms / status epilepticus

Proximal 16p11.2 microdeletion syndrome		Familial thrombocytosis
	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 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 - Arterial embolism / thrombosis - Autosomal dominant inheritance - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Platelet disorders / thrombopathies - Platelets shape anomalies - Venous thrombosis / phlebitis / thrombophlebitis Frequent - Acute ischemia of the lower limbs - Acute ischemic syndrome - Facial pain / cephalalgia / migraine - Hyperhidrosis / increased sweating - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Pruritus / itching - Splenomegaly - Thoracic / chest pain - Transient cerebral ischemia / stroke Occasional - Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim - Acute leukemia - Dizziness - Early death / lethality - Elocution disorders / dysarthria / dysphonia - Myelodysplastic syndrome - Myeloproliferative syndrome / chronic leukemia - Pulmonary hypertension - Spontaneous abortions - Weight loss / loss of appetite / break in weight curve / general health alteration