ODCs

Click node...

Baraitser-Winter syndrome

2 OMIM references -
2 associated genes
44 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Wiskott-Aldrich syndrome

4 OMIM references -
2 associated genes
50 signs/symptoms

Baraitser-Winter syndrome

Wiskott-Aldrich syndrome

ACTB	(UniProt - OMIM)		WAS	(UniProt - OMIM)
ACTG1	(UniProt - OMIM)		WIPF1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ACTG1	(0.56)	WIPF1

Citations in the biomedical literature:

Baraitser-Winter syndrome		Wiskott-Aldrich syndrome
	Synonym(s): - Cerebrofrontofacial syndrome type 3 - Iris coloboma-ptosis-intellectual deficit syndrome		Synonym(s): - Eczema-thrombocytopenia-immunodeficiency syndrome - WAS

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic 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: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant		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: 2 OMIM references - No MeSH references		External references: 4 OMIM references - 1 MeSH reference: D014923


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability

Baraitser-Winter syndrome		Wiskott-Aldrich syndrome
	Very frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Autosomal recessive inheritance - Broad cheeks / cherub-like / cherubin face - Broad nose / nasal bridge - Coarse face - Coloboma of iris - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epicanthic folds - Euryblepharon / wide palpebral fissures - Failure to thrive / difficulties for feeding in infancy / growth delay - High arched eyebrows - Hypertelorism - Long philtrum - Macrostomia / big mouth - Micrognathia / retrognathia / micrognathism / retrognathism - Pointed chin - Prominent metopic suture - Ptosis - Seizures / epilepsy / absences / spasms / status epilepticus - Short columella / depressed nasal tip - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Telecanthus / canthal dystopy - Thin / retracted lips Frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Heterochromia / mixed colouring of iris - Large fontanelle / delayed fontanelle closure - Long / large / bulbous nose - Low hair line (back) - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Microcephaly - Restricted joint mobility / joint stiffness / ankylosis - Retinoschisis / retinal / chorioretinal coloboma - Short neck - Trigonocephaly Occasional - Coloboma of the optic nerve - Microcornea - Puffy eyelids - Scoliosis - Thumb duplication / distal bifid thumb phalangeal bone - Transient cerebral ischemia / stroke - Webbed neck / pterygium colli		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 - 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