ODCs

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1 OMIM reference -
1 associated gene
33 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

Adams-Oliver syndrome

4 OMIM references -
4 associated genes
47 signs/symptoms

CADASIL

Adams-Oliver syndrome

NOTCH3	(UniProt - OMIM)		ARHGAP31	(UniProt - OMIM)
			DOCK6	(UniProt - OMIM)
			EOGT	(UniProt - OMIM)
			RBPJ	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	NOTCH3	(0.52)	RBPJ

Citations in the biomedical literature:

CADASIL		Adams-Oliver syndrome
	Synonym(s): - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy - Hereditary multi-infarct dementia		Synonym(s): - AOS - Congenital scalp defects with distal limb anomalies - Congenital scalp defects with distal limb reduction anomalies - Limb, scalp and skull defects

	Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adulthood Average age of death: adult Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D046589		External references: 4 OMIM references - 1 MeSH reference: C538225


COMMON SIGNS	- Autosomal dominant inheritance - EEG anomalies - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypertonia / spasticity / rigidity / stiffness - Seizures / epilepsy / absences / spasms / status epilepticus

CADASIL		Adams-Oliver syndrome
	Very frequent - Facial pain / cephalalgia / migraine - Fever / chilling - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Motor deficit / trouble - Obnubilation / coma / lethargia / desorientation - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline - Retinal vascular anomalies / retinal telangiectasia - Sensitive trouble / deficit - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Transient amaurosis / acute visual trouble Frequent - Abnormal gait - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Cranial nerves palsy - Mild visual loss / impaired visual acuity - Transient cerebral ischemia / stroke - Troubles of memory / amnesia / hypermnesia Occasional - Arterial atheroma / precocious atherosclerosis / arteriosclerosis - Chronic arterial hypertension - Early death / lethality - Extrapyramidal syndrome - Hearing loss / hypoacusia / deafness - Hypoglycemia - Intracranial / cerebral / meningeal hemorrhage - Mucosal / cutaneous hemorrhage - Peripheral neuropathy - Repeat respiratory infections - Varices / varicous veins / venous insufficiency		Very frequent - Cutis marmorata / marbled skin / livedo - Failure to thrive / difficulties for feeding in infancy / growth delay - Foot absent / apodia / adactyly / acheiropodia - Global upper and lower limbs anomalies - Hand agenesis / absence - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Lower limb segmental anomalies - Scalp / skull defect - Skin hypoplasia / aplasia / atrophy - Upper limb segmental anomalies Frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Cataract / lens opacification - Hydrocephaly - Irregular length / shape of fingers - Metacarpal anomalies / Archibald's sign - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Pulmonary valve atresia / stenosis / narrowing - Short hand / brachydactyly - Strabismus / squint - Syndactyly of fingers / interdigital palm - Talipes-varus / metatarsal varus - Terminal / third phalangeal bone of fingers hypoplasia - Tetralogy of Fallot / trilogy of Fallot - Trident hand / split hand / abnormal median ray Occasional - Absent / small fingernails / anonychia of hands - Absent / small toenails / anonychia of feet - Alopecia - Ascitis - Autosomal recessive inheritance - Cirrhosis - Congenital hepatic fibrosis - Encephalocele / exencephaly - Esophageal varices - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Intellectual deficit / mental / psychomotor retardation / learning disability - Leukopenia / hypoleukocytosis - Porencephaly - Portal hypertension - Prematurity - Pulmonary hypertension - Thrombocytopenia / thrombopenia - Venous stenosis