ODCs

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X-linked agammaglobulinemia

2 OMIM references -
1 associated gene
33 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

1 OMIM reference -
2 associated genes
17 signs/symptoms

X-linked agammaglobulinemia

Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

BTK	(UniProt - OMIM)		KRT14	(UniProt - OMIM)
			KRT5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BTK	(0.68)	KRT5

Citations in the biomedical literature:

X-linked agammaglobulinemia		Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
	Synonym(s): - BTK-deficiency - Bruton type agammaglobulinemia		Synonym(s): - Epidermolysis bullosa simplex, Koebner type - Epidermolysis bullosa simplex, KÃ¶bner type - Generalized EBS, non-Dowling-Meara type

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - 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: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 2 OMIM references - 1 MeSH reference: C537409		External references: 1 OMIM reference - 1 MeSH reference: C535961


COMMON SIGNS	- Failure to thrive / difficulties for feeding in infancy / growth delay

X-linked agammaglobulinemia		Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
	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 - 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 - Autosomal recessive inheritance - Enanthema / aphtosa / aphta / leukoplakia - Mucosal / cutaneous hemorrhage - Muscle weakness / flaccidity - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Enamel anomaly - Follicular / erythematous / edematous papules / milium - Hyperhidrosis / increased sweating - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Nails anomalies - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Palmoplantar hyperkeratosis / keratoderma - Ptosis - Respiratory rhythm disorder Occasional - Myasthenia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction