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5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 3
3 OMIM references -
5 associated genes
17 signs/symptoms
46,XY partial gonadal dysgenesis
Essential thrombocythemia

GATA4 CALR
MAP3K1 JAK2
NR0B1 MPL
NR5A1 TET2
SRY TP53
WT1
WWOX


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
WWOX
WT1
MAP3K1
(0.89)
(0.86)
(0.63)
TP53
TP53
TP53



Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Essential thrombocythemia
CALR JAK2 MPL TET2 TP53



46,XY partial gonadal dysgenesis
Essential thrombocythemia

Synonym(s):
- 46,XY PGD
- 46,XY partial testicular dysgenesis

Synonym(s):
- ET
- Essential thrombocytosis

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare urogenital 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: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: sporadic

External references:
5 OMIM references -
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: D013920

46,XY partial gonadal dysgenesis
Essential thrombocythemia

Very frequent
- Ambiguous genitalia
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- Hypospadias / epispadias / bent penis
- Micropenis / small penis / agenesis
- Mixed gonadal dysgenesis
- Testis anomalies

Occasional
- Cortico-adrenal hypoplasia / insufficiency
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)


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