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1 OMIM reference -
5 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
4 OMIM references -
3 associated genes
26 signs/symptoms
Multiple endocrine neoplasia type 1
Familial thrombocytosis

CDKN1A JAK2
CDKN1B MPL
CDKN2B THPO
CDKN2C
MEN1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CDKN1B
(0.73)
JAK2



Citations in the biomedical literature:


Multiple endocrine neoplasia type 1
CDKN1A CDKN1B CDKN2B CDKN2C MEN1
Familial thrombocytosis
JAK2 MPL THPO



Multiple endocrine neoplasia type 1
Familial thrombocytosis

Synonym(s):
- MEN 1
- Wermer syndrome

Synonym(s):
- Familial thrombocythemia
- Hereditary thrombocythemia

Classification (Orphanet):
- Rare endocrine disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
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 -
1 MeSH reference: D018761
External references:
4 OMIM references -
No MeSH references


COMMON
SIGNS
- Autosomal dominant inheritance


Multiple endocrine neoplasia type 1
Familial thrombocytosis

Very frequent
- Anomalies of the endocrine glands
- Anomaly of pancreatic hormones
- Hypercalcemia
- Hyperparathyroidy
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Neoplasms / tumors
- Parathyroids anomalies
- Structural anomalies of the pancreas

Frequent
- Cortico-adrenal hyperplasia / hypersecretion
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis
- Thyroid anomalies
- Xanthomas / lipomas



Very frequent
- Arterial embolism / thrombosis
- 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
- Seizures / epilepsy / absences / spasms / status epilepticus
- Spontaneous abortions
- Weight loss / loss of appetite / break in weight curve / general health alteration