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4 OMIM references -
2 associated genes
50 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 3
1 OMIM reference -
3 associated genes
60 signs/symptoms
Wiskott-Aldrich syndrome
Distal 22q11.2 microdeletion syndrome

WAS BCR
WIPF1 CRKL
MAPK1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
WAS
WIPF1
(0.85)
(0.55)
CRKL
CRKL



Citations in the biomedical literature:


Wiskott-Aldrich syndrome
WAS WIPF1
Distal 22q11.2 microdeletion syndrome
BCR CRKL MAPK1



Wiskott-Aldrich syndrome
Distal 22q11.2 microdeletion syndrome

Synonym(s):
- Eczema-thrombocytopenia-immunodeficiency syndrome
- WAS

Synonym(s):
- Distal del(22)(q11.2)
- Distal monosomy 22q11.2

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
- Rare immune disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic 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: neonatal/infancy
Average age of death: any age
Type of inheritance: x-linked recessive
Epidemiological data:
(no data available)

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


COMMON
SIGNS
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Repeat respiratory infections


Wiskott-Aldrich syndrome
Distal 22q11.2 microdeletion syndrome

Very frequent
- Bruisability
- Chronic obstructive pulmonary disease / COPD / obstructive respiratory syndrome
- Chronic / relapsing otitis
- Fever / chilling
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Platelets shape anomalies
- Purpura / petichiae
- 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
- 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


Very frequent
- High arched eyebrows
- Insterstitial / subtelomeric microdeletion / deletion
- Philtrum flat / large / featureless / absent cupidon bows
- Prematurity
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Absent / small fingernails / anonychia of hands
- Absent / small toenails / anonychia of feet
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Clinodactyly of fifth finger
- Common arterial trunk / truncal valve
- Deepset eyes / enophthalmos
- External ear anomalies
- Flat foot
- Intrauterine growth retardation
- Microcephaly
- Pointed chin
- Thin / hypoplastic ala nasi
- Thin / retracted lips

Occasional
- Ankyloglossia / lingual synechiae
- Aortic root dilatation / dilation / aneurysm
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Atrial septal defect / interauricular communication
- Blepharophimosis / short palpebral fissures
- Bowed diaphysis / diaphyses / long bones
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Camptodactyly of some fingers
- Choanal atresia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Encopresis / fecal incontinence
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Flat cheek bones / malar hypoplasia
- Gastric / pyloric stenosis
- High nasal bridge
- High vaulted / narrow palate
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperactivity / attention deficit
- Hyperextensible joints / articular hyperlaxity
- Inguinal / inguinoscrotal / crural hernia
- Long face
- Long hand / arachnodactyly
- Lordosis
- Microstomia / little mouth
- Obsessive-compulsive disorder
- Oculomotor apraxia / dyspraxia
- Recurrent urinary infections
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Short hand / brachydactyly
- Syndactyly of toes
- Terminal / third phalangeal bone of fingers hypoplasia
- Tics / stereotypias
- Ulnar deviation of fingers
- Ventricular septal defect / interventricular communication
- Wide space between 1st-2nd toes