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X-linked agammaglobulinemia
2 OMIM references -
1 associated gene
33 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4
Diffuse cutaneous systemic sclerosis
5 associated genes
31 signs/symptoms
X-linked agammaglobulinemia
Diffuse cutaneous systemic sclerosis

BTK
(UniProt - OMIM)
 CAV1
(UniProt - OMIM)
CCR6
(UniProt - OMIM)
CTGF
(UniProt - OMIM)
HLA-DRB1
(UniProt - OMIM)
IRF5
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
BTK
(0.73)
CAV1


Citations in the biomedical literature:


X-linked agammaglobulinemia
BTK
Diffuse cutaneous systemic sclerosis
CAV1 CCR6 CTGF HLA-DRB1 IRF5



X-linked agammaglobulinemia
Diffuse cutaneous systemic sclerosis

Synonym(s):
- BTK-deficiency
- Bruton type agammaglobulinemia
Synonym(s):
- Diffuse cutaneous systemic scleroderma
- Progressive cutaneous systemic scleroderma
- Progressive cutaneous systemic sclerosis
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare cardiac disease
- Rare renal disease
- Rare respiratory disease
- Rare skin disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
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: adulthood
Average age of death: adult
Type of inheritance: sporadic
External references:
2 OMIM references -
1 MeSH reference: C537409
External references:
No OMIM references
No MeSH references
COMMON
SIGNS 		- Arthritis / synovitis / synovial proliferation
- Autoimmunity / autoimmune reaction / autoantibodies
- Chronic skin infection / ulcerations / ulcers / cancrum
- Malabsorption / chronic diarrhea / steatorrhea

X-linked agammaglobulinemia
Diffuse cutaneous systemic sclerosis

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
- 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
- Early death / lethality
- Hepatitis / icterus / cholestasis
- Irregular / patchy skin hypopigmentation
- Osteomyelitis / osteitis / periostitis / spondylodisciitis
- Thrombocytopenia / thrombopenia
- Weight loss / loss of appetite / break in weight curve / general health alteration


Very frequent
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Anomalies of skin, subcutaneous tissue and mucosae
- Dermal / subcutaneous infiltration / induration
- Dry / squaly skin / exfoliation
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Lung / pulmonary infiltrates
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Radiologic lung abnormalities / changes
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Frequent
- Articular / joint pain / arthralgia
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Dyspareunia / coital pain / vaginal dryness
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Lung fibrosis
- Mouth dryness / xerostomia
- Multiple caries
- Muscle weakness / flaccidity
- Osteolysis / osteoclasia / bone destruction / erosions
- Telangiectasiae of the skin
- Tendon rupture / tendinitis / bursitis / tenosynovitis

Occasional
- Acute arterial hypertension / hypertensive crisis
- Heart / cardiac failure
- Intestinal transit disorder
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Periarticular tissue anomaly / extraarticular calcifications
- Pulmonary hypertension
- Renal failure