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Wilson-Turner syndrome
1 OMIM reference -
1 associated gene
38 signs/symptoms
PROTEIN INTERACTIONS: 1
Essential thrombocythemia
3 OMIM references -
5 associated genes
17 signs/symptoms
Wilson-Turner syndrome
Essential thrombocythemia

HDAC8
(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)
HDAC8
(0.72)
TP53


Citations in the biomedical literature:


Wilson-Turner syndrome
HDAC8
Essential thrombocythemia
CALR JAK2 MPL TET2 TP53



Wilson-Turner syndrome
Essential thrombocythemia

Synonym(s):
- X-linked intellectual deficit - gynecomastia - obesity
Synonym(s):
- ET
- Essential thrombocytosis
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked 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
Wilson-Turner syndrome
Essential thrombocythemia

Very frequent
- Generalized obesity

Frequent
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Occasional
- Abnormal cry / voice / phonation disorder / nasal speech
- Abnormal gait
- Anodontia / oligodontia / hypodontia
- Arthritis / synovitis / synovial proliferation
- Ataxia / incoordination / trouble of the equilibrium
- Brachycephaly / flat occiput
- Coarse face
- Hirsutism / hypertrichosis / Increased body hair
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Irregular length / shape of fingers
- Long / large ear
- Lymphedema
- Maternal hypertension / eclampsia / preeclampsia / gravidic toxemia
- Micropenis / small penis / agenesis
- Microstomia / little mouth
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Pointed chin
- Preauricular / branchial tags / appendages
- Prognathism / prognathia
- Protruding lips
- Round ear
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Small hand / acromicria
- Small / hypoplastic / adherent / absent ear lobe
- Spindle shaped fingers
- Striae
- Synophris / synophrys
- Tapered fingers
- Thick / bushy eyebrows
- Thick / wide ear lobe
- Umbilical hernia
- Undescended / ectopic testes / cryptorchidia / unfixed testes


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