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Kleefstra syndrome due to 9q34 microdeletion
1 associated gene
35 signs/symptoms
PROTEIN INTERACTIONS: 1
Essential thrombocythemia
3 OMIM references -
5 associated genes
17 signs/symptoms
Kleefstra syndrome due to 9q34 microdeletion
Essential thrombocythemia

EHMT1
(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)
EHMT1
(0.62)
TP53


Citations in the biomedical literature:


Kleefstra syndrome due to 9q34 microdeletion
EHMT1
Essential thrombocythemia
CALR JAK2 MPL TET2 TP53



Kleefstra syndrome due to 9q34 microdeletion
Essential thrombocythemia

Synonym(s):
- 9q subtelomeric deletion syndrome
- 9qSTDS
- Kleefstra syndrome due to 9q subtelomeric deletion
- Kleefstra syndrome due to del(9)(q34)
- Kleefstra syndrome due to monosomy 9q34
Synonym(s):
- ET
- Essential thrombocytosis
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: sporadic
External references:
No OMIM references
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: D013920
Kleefstra syndrome due to 9q34 microdeletion
Essential thrombocythemia

Very frequent
- Anteverted nares / nostrils
- Brachycephaly / flat occiput
- Everted lower lip
- High arched eyebrows
- Hypertelorism
- Hypotonia
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short / small nose
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Cardiac septal defect
- Downturned mouth
- Generalized obesity
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Microcephaly
- Mid-facial hypoplasia / short / small midface
- Seizures / epilepsy / absences / spasms / status epilepticus
- Synophris / synophrys
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Autism / autistic disoders
- Corpus callosum / septum pellucidum total / partial agenesis
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Dilated cerebral ventricles without hydrocephaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hearing loss / hypoacusia / deafness
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Inguinal / inguinoscrotal / crural hernia
- Micropenis / small penis / agenesis
- Renal failure
- Sleep and vigilance disorders
- Tetralogy of Fallot / trilogy of Fallot
- Umbilical hernia
- Vesicorenal / vesicoureteral reflux


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