ODCs

Click node...

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Wiskott-Aldrich syndrome

4 OMIM references -
2 associated genes
50 signs/symptoms

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

Wiskott-Aldrich syndrome

CBL	(UniProt - OMIM)		WAS	(UniProt - OMIM)
			WIPF1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CBL	(0.63)	WAS

Citations in the biomedical literature:

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia		Wiskott-Aldrich syndrome
	Synonym(s): - CBL syndrome - Noonan syndrome-like disorder with JMML		Synonym(s): - Eczema-thrombocytopenia-immunodeficiency syndrome - WAS

	Classification (Orphanet): - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease		Classification (Orphanet): - Rare genetic disease - Rare hematologic disease - Rare immune disease - Rare oncologic disease - Rare skin disease

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

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: x-linked recessive

	External references: 1 OMIM reference - No MeSH references		External references: 4 OMIM references - 1 MeSH reference: D014923

Wiskott-Aldrich syndrome
	Very frequent - Bruisability - Chronic obstructive pulmonary disease / COPD / obstructive respiratory syndrome - Chronic / relapsing otitis - Fever / chilling - Immunodeficiency / increased susceptibility to infections / recurrent infections - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Platelets shape anomalies - Purpura / petichiae - Repeat respiratory infections - Thrombocytopenia / thrombopenia - X-linked recessive inheritance Frequent - Anaemia - Asthenia / fatigue / weakness - Autoimmunity / autoimmune reaction / autoantibodies - Epistaxis / nose bleeding - Gingivorrhagia / gingival bleeding - Hematomas - Hemolytic anemia - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Inflammatory intestinal disease - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcytic anemia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction Occasional - Arthritis / synovitis / synovial proliferation - Cardiac rhythm disorder / arrhythmia - Chronic skin infection / ulcerations / ulcers / cancrum - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Early death / lethality - Encephalitis - Hyperostosis - Internal hemorrhage - Intracranial / cerebral / meningeal hemorrhage - Lung / pulmonary / alveolar hemorrhage / hematoma - Lymphoma - Meningitis / meningeal syndrome - Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea - Mucosal / cutaneous hemorrhage - Myeloproliferative syndrome / chronic leukemia - Neoplasms / tumors - Peripheral neuropathy - Platelets function anomaly - Polynuclear cells / neutrophils anomalies / neutropenia - Renal disease / nephropathy - Renal glomerular defect / glomerulopathy - Sepsis severe / septicemia - Thoracic / chest pain - Thymic aplasia / hypoplasia - Urticaria - Vascularitis / vasculitides / arteritis
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
(no data available)