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2 OMIM references -
1 associated gene
33 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
25 signs/symptoms
X-linked agammaglobulinemia
Familial multiple nevi flammei

BTK GNAQ


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


X-linked agammaglobulinemia
BTK
Familial multiple nevi flammei
GNAQ



X-linked agammaglobulinemia
Familial multiple nevi flammei

Synonym(s):
- BTK-deficiency
- Bruton type agammaglobulinemia

Synonym(s):
- Familial multiple port-wine stains

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic 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:
(no data available)

External references:
2 OMIM references -
1 MeSH reference: C537409
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Chronic skin infection / ulcerations / ulcers / cancrum


X-linked agammaglobulinemia
Familial multiple nevi flammei

Very frequent
- Acute diarrhea
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Anomalies of the lymphatic system
- Asthenia / fatigue / weakness
- 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
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Irregular / in bands / reticular skin hyperpigmentation
- Macules

Frequent
- Autosomal dominant inheritance
- Follicular / erythematous / edematous papules / milium

Occasional
- Anomalies of bones / skeletal anomalies
- Anomalies of spine, vertebrae and pelvis
- Cardiac rhythm disorder / arrhythmia
- Cranial nerve anomalies
- Cutaneous edema
- Glaucoma
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral calcifications
- Intracranial / cerebral / meningeal hemorrhage
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Lower limb segmental anomalies
- Pulmonary thromboembolism
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Upper limb segmental anomalies
- Varices / varicous veins / venous insufficiency
- Venous thrombosis / phlebitis / thrombophlebitis