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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
4 OMIM references -
3 associated genes
26 signs/symptoms
Hypohidrotic ectodermal dysplasia with immunodeficiency
Familial thrombocytosis

IKBKG JAK2
NFKBIA MPL
THPO


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IKBKG
NFKBIA
(0.56)
(0.52)
JAK2
JAK2



Citations in the biomedical literature:


Hypohidrotic ectodermal dysplasia with immunodeficiency
IKBKG NFKBIA
Familial thrombocytosis
JAK2 MPL THPO



Hypohidrotic ectodermal dysplasia with immunodeficiency
Familial thrombocytosis

Synonym(s):
- Anhidrotic ectodermal dysplasia with immunodeficiency
- EDA-ID
- HED-ID

Synonym(s):
- Familial thrombocythemia
- Hereditary thrombocythemia

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: child / adolescent
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:
2 OMIM references -
No MeSH references
External references:
4 OMIM references -
No MeSH references

Familial thrombocytosis

Very frequent
- Arterial embolism / thrombosis
- Autosomal dominant inheritance
- 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


Hypohidrotic ectodermal dysplasia with immunodeficiency

(no data available)