ODCs

Cytoscape Web

Click node...

X-linked agammaglobulinemia

2 OMIM references -
1 associated gene
33 signs/symptoms

PROTEIN INTERACTIONS: 1

Sturge-Weber syndrome

1 OMIM reference -
1 associated gene
33 signs/symptoms

X-linked agammaglobulinemia

Sturge-Weber syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BTK	(0.79)	GNAQ

Citations in the biomedical literature:

X-linked agammaglobulinemia		Sturge-Weber syndrome
	Synonym(s): - BTK-deficiency - Bruton type agammaglobulinemia		Synonym(s): - Encephalofacial angiomatosis - Encephalotrigeminal angiomatosis - SWS - Sturge-Weber-Dimitri syndrome - Sturge-Weber-Krabbe angiomatosis - Sturge-Weber-Krabbe syndrome

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic disease - Rare skin disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: sporadic		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: sporadic

	External references: 2 OMIM references - 1 MeSH reference: C537409		External references: 1 OMIM reference - 1 MeSH reference: D013341

X-linked agammaglobulinemia		Sturge-Weber syndrome
	Very frequent - Acute diarrhea - Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency - Anomalies of the lymphatic system - Asthenia / fatigue / weakness - Chronic skin infection / ulcerations / ulcers / cancrum - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Chronic / relapsing otitis - Cutaneous rash - Failure to thrive / difficulties for feeding in infancy / growth delay - Fever / chilling - Furuncle / cutaneous abscess / hidrosadenitis suppurativa - Immunodeficiency / increased susceptibility to infections / recurrent infections - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Repeat respiratory infections - Short stature / dwarfism / nanism - Tonsil anomaly / hypertrophy / adenoiditis - X-linked recessive inheritance Frequent - Arthritis / synovitis / synovial proliferation - Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue - Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity - Meningitis / meningeal syndrome - Polynuclear cells / neutrophils anomalies / neutropenia - Sepsis severe / septicemia Occasional - Alopecia - Anaemia - Autoimmunity / autoimmune reaction / autoantibodies - Early death / lethality - Hepatitis / icterus / cholestasis - Irregular / patchy skin hypopigmentation - Malabsorption / chronic diarrhea / steatorrhea - Osteomyelitis / osteitis / periostitis / spondylodisciitis - Thrombocytopenia / thrombopenia - Weight loss / loss of appetite / break in weight curve / general health alteration		Very frequent - Autism / autistic disoders - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Glaucoma - Hemiplegia / diplegia / hemiparesia / limb palsy - Intracranial / cerebral calcifications - Macrocephaly / macrocrania / megalocephaly / megacephaly - Macules - Ptosis - Retinal vascular anomalies / retinal telangiectasia - Strabismus / squint - Vascular anomalies of skin / mucosae Occasional - Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim - Anomalies of eyes and vision - Areflexia / hyporeflexia - Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Bone tumefaction / swelling - Cavernous / tuberous hemangioma - Cerebral vascular anomalies - Choroidal anomalies / atrophy / choroideremia - Coloboma of iris - Facial pain / cephalalgia / migraine - Hematomas - Hypereflexia - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Intellectual deficit / mental / psychomotor retardation / learning disability - Macroglossia / tongue protrusion / proeminent / hypertrophic - Pulmonary thromboembolism - Retinal detachment - Venous thrombosis / phlebitis / thrombophlebitis - Visceral angiomatosis (excluding skin)