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2 OMIM references -
1 associated gene
44 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5
1 OMIM reference -
1 associated gene
64 signs/symptoms
Waldenström macroglobulinemia
Incontinentia pigmenti

MYD88 IKBKG


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Waldenström macroglobulinemia
MYD88
Incontinentia pigmenti
IKBKG



Waldenström macroglobulinemia
Incontinentia pigmenti

Synonym(s):
- Lymphoplasmacytic immunocytoma
- Lymphoplasmacytic lymphoma

Synonym(s):
- Bloch-Siemens syndrome
- Bloch-Sulzberger syndrome

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 neurologic 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: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: x-linked dominant

External references:
2 OMIM references -
1 MeSH reference: D008258
External references:
1 OMIM reference -
1 MeSH reference: D007184


COMMON
SIGNS
- Heart / cardiac failure
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Motor deficit / trouble
- Retinal vascular anomalies / retinal telangiectasia
- Transient cerebral ischemia / stroke


Waldenström macroglobulinemia
Incontinentia pigmenti

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
- Hepatomegaly / liver enlargement (excluding storage disease)
- Lung / pulmonary infiltrates
- Lymphadenopathy / polyadenopathies
- Malabsorption / chronic diarrhea / steatorrhea
- Obnubilation / coma / lethargia / desorientation
- Palpebral edema / periorbital edema
- Peripheral neuropathy
- Proptosis / exophthalmos
- Purpura / petichiae
- Renal failure
- Splenomegaly
- Troubles of memory / amnesia / hypermnesia
- Urticaria
- Vascularitis / vasculitides / arteritis


Very frequent
- Abnormal fingernails
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Absent / small fingernails / anonychia of hands
- Anodontia / oligodontia / hypodontia
- Cutaneous rash
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hair and scalp anomalies
- Irregular / in bands / reticular skin hyperpigmentation
- Irregular / patchy skin hypopigmentation
- Nails anomalies
- Telangiectasiae of the skin
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment
- Warts / papillomas
- X-linked dominant inheritance

Frequent
- Abnormal gait
- Alopecia
- Anomalies of ear and hearing
- Anomalies of hands
- Anomalies of the ribs
- Asymmetry of the body / hemiatrophy / hemihyperthrophy
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cleft lip and palate
- Clinodactyly of fingers 1,2,3,4 / overlapping fingers
- Complete claw hand / camptodactyly of all fingers
- Corneal clouding / opacity / vascularisation
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Eosinophils anomalies / hypereosinophilia
- Hyperactivity / attention deficit
- Hyperhidrosis / increased sweating
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Osteolysis / osteoclasia / bone destruction / erosions
- Scoliosis
- Short stature / dwarfism / nanism
- Strabismus / squint
- Supernumerary nipples / polythelia
- Tooth shape anomaly
- Visual loss / blindness / amblyopia

Occasional
- Abnormal toenails
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Blue sclerae
- Cataract / lens opacification
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Enamel anomaly
- Encephalitis
- Hand agenesis / absence
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Pulmonary hypertension
- Retinal detachment
- Retinal / chorioretinal dysplasia / dystrophy
- Seizures / epilepsy / absences / spasms / status epilepticus
- Spina bifida occulta
- Syndactyly of fingers / interdigital palm
- Umbilical hernia