ODCs

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1 OMIM reference -
1 associated gene
12 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
7 signs/symptoms

Brachyolmia type 1, Toledo type

Hereditary cerebral hemorrhage with amyloidosis, Italian type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PAPSS2	(0.56)	APP

Citations in the biomedical literature:

Brachyolmia type 1, Toledo type		Hereditary cerebral hemorrhage with amyloidosis, Italian type
	Synonym(s): (no synonyms)		Synonym(s): - HCHWA, Italian type

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

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

Brachyolmia type 1, Toledo type		Hereditary cerebral hemorrhage with amyloidosis, Italian type
	Very frequent - Autosomal recessive inheritance - Corneal clouding / opacity / vascularisation - Mucopolysacchariduria - Platyspondyly - Rib structure anomalies - Short rib cage / thorax - Short stature / dwarfism / nanism Frequent - Metaphyseal anomaly - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Scoliosis - Short limbs / micromelia / brachymelia Occasional - Rachidian / spine canal stenosis		Very frequent - Autosomal dominant inheritance - Facial pain / cephalalgia / migraine - Intracranial / cerebral / meningeal hemorrhage - Transient cerebral ischemia / stroke Frequent - Obnubilation / coma / lethargia / desorientation - Psychic / psychomotor regression / dementia / intellectual decline - Seizures / epilepsy / absences / spasms / status epilepticus