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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
1 associated gene
44 signs/symptoms
Hypohidrotic ectodermal dysplasia with immunodeficiency
Waldenström macroglobulinemia

IKBKG MYD88
NFKBIA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IKBKG
(0.63)
MYD88



Citations in the biomedical literature:


Hypohidrotic ectodermal dysplasia with immunodeficiency
IKBKG NFKBIA
Waldenström macroglobulinemia
MYD88



Hypohidrotic ectodermal dysplasia with immunodeficiency
Waldenström macroglobulinemia

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

Synonym(s):
- Lymphoplasmacytic immunocytoma
- Lymphoplasmacytic lymphoma

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

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Neoplasms -

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: adulthood
Average age of death: elderly
Type of inheritance: multigenic/multifactorial

External references:
2 OMIM references -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D008258

Waldenström macroglobulinemia

Very frequent
- Bone marrow / medullar infiltration
- Hematologic / blood / lymphatic cancer
- Monoclonal immunoglobulins / gammapathy / dysglobulinemia
- Myeloproliferative syndrome / chronic leukemia

Frequent
- Blood hyperviscosity / hypercoagulability
- Dizziness
- Gingivorrhagia / gingival bleeding
- Normocytic anemia
- Pallor
- Polynuclear cells / neutrophils anomalies / neutropenia
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Occasional
- Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax
- Anorexia
- Asthenia / fatigue / weakness
- Ataxia / incoordination / trouble of the equilibrium
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Cranial nerves palsy
- Cryoglobulinemia
- Cutis marmorata / marbled skin / livedo
- Edema of the legs / lower limbs
- Epistaxis / nose bleeding
- Facial pain / cephalalgia / migraine
- Fever / chilling
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Hearing loss / hypoacusia / deafness
- Heart / cardiac failure
- Hepatomegaly / liver enlargement (excluding storage disease)
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Lung / pulmonary infiltrates
- Lymphadenopathy / polyadenopathies
- Malabsorption / chronic diarrhea / steatorrhea
- Motor deficit / trouble
- Obnubilation / coma / lethargia / desorientation
- Palpebral edema / periorbital edema
- Peripheral neuropathy
- Proptosis / exophthalmos
- Purpura / petichiae
- Renal failure
- Retinal vascular anomalies / retinal telangiectasia
- Splenomegaly
- Transient cerebral ischemia / stroke
- Troubles of memory / amnesia / hypermnesia
- Urticaria
- Vascularitis / vasculitides / arteritis


Hypohidrotic ectodermal dysplasia with immunodeficiency

(no data available)