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2 OMIM references -
2 associated genes
44 signs/symptoms
PROTEIN INTERACTIONS: 1
3 OMIM references -
5 associated genes
17 signs/symptoms
Geleophysic dysplasia
Essential thrombocythemia

ADAMTSL2 CALR
FBN1 JAK2
MPL
TET2
TP53


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FBN1
(0.52)
CALR



Citations in the biomedical literature:


Geleophysic dysplasia
ADAMTSL2 FBN1
Essential thrombocythemia
CALR JAK2 MPL TET2 TP53



Geleophysic dysplasia
Essential thrombocythemia

Synonym(s):
- Geleophysic dwarfism

Synonym(s):
- ET
- Essential thrombocytosis

Classification (Orphanet):
- Rare bone disease
- 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 / 1 000 000
Average age onset: childhood
Average age of death: -
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:
2 OMIM references -
1 MeSH reference: C537677
External references:
3 OMIM references -
1 MeSH reference: D013920

Geleophysic dysplasia
Essential thrombocythemia

Very frequent
- Abnormal vertebral size / shape
- Anteverted nares / nostrils
- Autosomal recessive inheritance
- Broad cheeks / cherub-like / cherubin face
- Cardiac valvulopathy
- Cone epiphyses / epiphysis
- Delayed bone age
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Hypertelorism
- Long philtrum
- Metacarpal anomalies / Archibald's sign
- Philtrum flat / large / featureless / absent cupidon bows
- Restricted joint mobility / joint stiffness / ankylosis
- Round face
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Short / small nose
- Thin / retracted lips

Frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Atrial septal defect / interauricular communication
- Blepharophimosis / short palpebral fissures
- Broad nose / nasal bridge
- Chronic / relapsing otitis
- Death in infancy
- Epiphyseal anomaly
- Hearing loss / hypoacusia / deafness
- Hepatomegaly / liver enlargement (excluding storage disease)
- Intrauterine growth retardation
- Mitral valve atresia / stenosis / narrowing
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Platyspondyly
- Repeat respiratory infections
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Round ear
- Short limbs / micromelia / brachymelia
- Thick skin / pachydermia / orange skin
- tricuspid valve atresia / stenosis / narrowing

Occasional
- Apnea / sleep apnea
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Larynx / laryngeal stenosis / atresia
- Pulmonary hypertension
- Tracheal atresia / stenosis


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