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Baraitser-Winter syndrome

2 OMIM references -
2 associated genes
44 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Tuberous sclerosis

2 OMIM references -
2 associated genes
44 signs/symptoms

Baraitser-Winter syndrome

Tuberous sclerosis

ACTB	(UniProt - OMIM)		TSC1	(UniProt - OMIM)
ACTG1	(UniProt - OMIM)		TSC2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ACTB	(0.63)	TSC1

Citations in the biomedical literature:

Baraitser-Winter syndrome		Tuberous sclerosis
	Synonym(s): - Cerebrofrontofacial syndrome type 3 - Iris coloboma-ptosis-intellectual deficit syndrome		Synonym(s): - Bourneville syndrome - Tuberous sclerosis complex

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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 / 100 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: D014402


COMMON SIGNS	- Coloboma of iris - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus

Baraitser-Winter syndrome		Tuberous sclerosis
	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 - 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 - 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 - Adenoma sebaceum - Autosomal dominant inheritance - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Cutaneous neurofibromas / facial angiofibromas / Koenen tumors - EEG anomalies - Follicular / erythematous / edematous papules / milium - Pedunculated skin lesions - Prominent occiput / occipital bossing Frequent - Cafe-au-lait spot - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Irregular / patchy skin hypopigmentation - Macules - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Psychic / behavioural troubles - Retinal hamartoma - Subcutaneous nodules / lipomas / tumefaction / swelling - Ungual / paraungual fibromas (fingernails) - Ungual / parungual fibromas (toenails) Occasional - Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax - Arterial aneurism (excluding aorta) - Cardiac rhythm disorder / arrhythmia - Corpus callosum / septum pellucidum total / partial agenesis - Cranial hypertension - Emphysema - Enamel anomaly - Gingivitis - Heart / cardiac failure - Heart / cardiac tumor - Hypothyroidy - Intracranial / cerebral calcifications - Kidney / renal neoplasm / tumor / carcinoma / cancer - Lymphangioma / lymphatic malformations - Macrodactyly / fingers hypertrophy / megalodactyly (hand) - Polycystic kidneys - Precocious puberty - Renal failure - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Structural anomalies of the liver and the biliary tract - Structural anomalies of the pancreas - Structural anomalies of the respiratory system and diaphragm - Visceral angiomatosis (excluding skin)