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2 OMIM references -
1 associated gene
44 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
3 associated genes
18 signs/symptoms
Waldenström macroglobulinemia
Autosomal dominant hypohidrotic ectodermal dysplasia

MYD88 EDAR
EDARADD
TRAF6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MYD88
(0.76)
TRAF6



Citations in the biomedical literature:


Waldenström macroglobulinemia
MYD88
Autosomal dominant hypohidrotic ectodermal dysplasia
EDAR EDARADD TRAF6



Waldenström macroglobulinemia
Autosomal dominant hypohidrotic ectodermal dysplasia

Synonym(s):
- Lymphoplasmacytic immunocytoma
- Lymphoplasmacytic lymphoma

Synonym(s):
- AD-HED
- Autosomal dominant anhidrotic ectodermal dysplasia

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

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant

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

Waldenström macroglobulinemia
Autosomal dominant hypohidrotic ectodermal dysplasia

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


Very frequent
- Anodontia / oligodontia / hypodontia
- Anomalies of teeth and dentition
- Autosomal dominant inheritance
- Decreased body hair / axillar / pubic hairlessness
- Dry / squaly skin / exfoliation
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Premature lost of decidious teeth
- Thin skin
- Tooth shape anomaly

Frequent
- Abnormal fingernails
- Alveolysis / paraodontitis

Occasional
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Eczema
- Flattened nose
- Frontal bossing / prominent forehead
- Malignant hyperthermia
- Thick lips