ODCs

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1 OMIM reference -
1 associated gene
20 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
13 signs/symptoms

Bowen-Conradi syndrome

Hereditary cerebral hemorrhage with amyloidosis, Piedmont type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EMG1	(0.56)	APP

Citations in the biomedical literature:

Bowen-Conradi syndrome		Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
	Synonym(s): - Bowen syndrome, Hutterite type		Synonym(s): - HCHWA, Piedmont type

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

	External references: 1 OMIM reference - 1 MeSH reference: C537081		External references: 1 OMIM reference - No MeSH references


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

Bowen-Conradi syndrome		Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
	Very frequent - Autosomal recessive inheritance - Death in infancy - Failure to thrive / difficulties for feeding in infancy / growth delay - Long / large / bulbous nose - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Restricted joint mobility / joint stiffness / ankylosis - Short stature / dwarfism / nanism - Sloping forehead Frequent - Camptodactyly of fingers - Clinodactyly of fingers 1,2,3,4 / overlapping fingers - Intrauterine growth retardation - Talipes-varus / metatarsal varus - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration - Cleft lip and palate - Congenital cardiac anomaly / malformation / cardiopathy - Dilated cerebral ventricles without hydrocephaly - Seizures / epilepsy / absences / spasms / status epilepticus		Very frequent - Autosomal dominant inheritance - Intracranial / cerebral / meningeal hemorrhage - Motor deficit / trouble - Obnubilation / coma / lethargia / desorientation - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Psychic / psychomotor regression / dementia / intellectual decline - Sensitive trouble / deficit - Transient cerebral ischemia / stroke Frequent - Cerebral vascular anomalies - Facial pain / cephalalgia / migraine - Psychic / behavioural troubles Occasional - Early death / lethality