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2 OMIM references -
1 associated gene
44 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
2 associated genes
72 signs/symptoms
Waldenström macroglobulinemia
Smith-Magenis syndrome

MYD88 FLII
RAI1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MYD88
(0.77)
FLII



Citations in the biomedical literature:


Waldenström macroglobulinemia
MYD88
Smith-Magenis syndrome
FLII RAI1



Waldenström macroglobulinemia
Smith-Magenis syndrome

Synonym(s):
- Lymphoplasmacytic immunocytoma
- Lymphoplasmacytic lymphoma

Synonym(s):
- 17p11.2 microdeletion

Classification (Orphanet):
- Rare hematologic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic 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: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: sporadic

External references:
2 OMIM references -
1 MeSH reference: D008258
External references:
1 OMIM reference -
1 MeSH reference: D058496


COMMON
SIGNS
- Peripheral neuropathy


Waldenström macroglobulinemia
Smith-Magenis syndrome

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
- 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
- Abnormal cry / voice / phonation disorder / nasal speech
- Anodontia / oligodontia / hypodontia
- Areflexia / hyporeflexia
- Auto-aggressivity / auto-mutilation
- Brachycephaly / flat occiput
- Broad forehead
- Broad nose / nasal bridge
- Deepset eyes / enophthalmos
- Depressed nasal bridge
- Frontal bossing / prominent forehead
- Generalized obesity
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperactivity / attention deficit
- Hypotonia
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Large face
- Mid-facial hypoplasia / short / small midface
- Respiratory-digestive intersection / aero-digestive cross-roads anomaly
- Short hand / brachydactyly
- Sleep and vigilance disorders
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Synophris / synophrys
- Taurodontia
- Tented upper lip
- Tics / stereotypias
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Frequent
- Abnormal gait
- Abnormal vertebral size / shape
- Anteverted nares / nostrils
- Chronic / relapsing otitis
- Clinodactyly of fifth finger
- Conductive deafness / hearing loss
- Congenital cardiac anomaly / malformation / cardiopathy
- Constipation
- Corpus callosum / septum pellucidum total / partial agenesis
- Dilated cerebral ventricles without hydrocephaly
- EEG anomalies
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fetal immobility / abnormal fetal movements
- Flat foot
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hyperacusia
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Hypertelorism
- Insensitivity to pain
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Microcornea
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mouth held open
- Myopia
- Prognathism / prognathia
- Scoliosis
- Short philtrum
- Short stature / dwarfism / nanism
- Short / small nose
- Strabismus / squint
- Syndactyly of toes

Occasional
- Agenesis / hypoplasia / aplasia of kidneys
- Cleft lip
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Ectopic / horseshoe / fused kidneys
- Hypothyroidy
- Late puberty / hypogonadism / hypogenitalism
- Microcephaly
- Precocious puberty
- Restricted joint mobility / joint stiffness / ankylosis
- Retinal detachment
- Seizures / epilepsy / absences / spasms / status epilepticus
- Upper limb polydactyly / hexadactyly
- Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter