ODCs

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1 OMIM reference -
1 associated gene
25 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
3 signs/symptoms

Abruzzo-Erickson syndrome

Hereditary cerebral hemorrhage with amyloidosis, Arctic type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TBX22	(0.56)	APP

Citations in the biomedical literature:

Abruzzo-Erickson syndrome		Hereditary cerebral hemorrhage with amyloidosis, Arctic type
	Synonym(s): - Cleft palate - coloboma - deafness		Synonym(s): - HCHWA, Arctic type

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare urogenital 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: childhood Average age of death: - Type of inheritance: x-linked recessive		Epidemiological data: (no data available)

	External references: 1 OMIM reference - 1 MeSH reference: C535559		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance

Abruzzo-Erickson syndrome		Hereditary cerebral hemorrhage with amyloidosis, Arctic type
	Very frequent - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flat cheek bones / malar hypoplasia - Flat face - Hypospadias / epispadias / bent penis - Long / large ear Frequent - Coloboma of iris - High vaulted / narrow palate - Radioulnar synostosis - Retinoschisis / retinal / chorioretinal coloboma - Sensorineural deafness / hearing loss - Short stature / dwarfism / nanism - Ulnar deviation of fingers - X-linked recessive inheritance Occasional - Atrial septal defect / interauricular communication - Conductive deafness / hearing loss - Ectopic / horseshoe / fused kidneys - Epicanthic folds - Grooved / dimple chin - Microcornea - Short foot / brachydactyly of toes - Short hand / brachydactyly - Syndactyly of toes - Tooth shape anomaly - Undescended / ectopic testes / cryptorchidia / unfixed testes		Very frequent - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline