ODCs

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Familial thrombocytosis

4 OMIM references -
3 associated genes
26 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Rabson-Mendenhall syndrome

1 OMIM reference -
1 associated gene
27 signs/symptoms

Familial thrombocytosis

Rabson-Mendenhall syndrome

JAK2	(UniProt - OMIM)	INSR	(UniProt - OMIM)
MPL	(UniProt - OMIM)
THPO	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	JAK2	(0.83)	INSR

Citations in the biomedical literature:

Familial thrombocytosis		Rabson-Mendenhall syndrome
	Synonym(s): - Familial thrombocythemia - Hereditary thrombocythemia		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare hematologic disease		Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare skin disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 4 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D056731


COMMON SIGNS	- Autosomal dominant inheritance

Familial thrombocytosis		Rabson-Mendenhall syndrome
	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		Very frequent - Acanthosis nigricans - Acromegaly - Anomalies of teeth and dentition - Anomalies of the abdominal wall - Coarse face - Diabetes mellitus - Dysplastic / thick / grooved fingernails - Female pseudohermaphrodism / virilisation / clitoridomegaly - Hirsutism / hypertrichosis / Increased body hair - Intrauterine growth retardation - Lanugo - Macropenis / megapenis / large penis - Premature eruption of teeth / natal teeth - Prognathism / prognathia Frequent - Coarse / thick hair - Dry / squaly skin / exfoliation - Peripheral neuropathy - Precocious puberty - Premature ageing - Proteinuria - Short hand / brachydactyly - Short stature / dwarfism / nanism - Thick skin / pachydermia / orange skin - Thyroid anomalies Occasional - Abnormal / polycystic ovaries - Megaureter / hydronephrosis / pyeloureteral junction syndrome