ODCs

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2 associated genes
20 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
3 signs/symptoms

Pfeiffer syndrome type 1

Hereditary cerebral hemorrhage with amyloidosis, Arctic type

FGFR1	(UniProt - OMIM)		APP	(UniProt - OMIM)
FGFR2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGFR2	(0.56)	APP

Citations in the biomedical literature:

Pfeiffer syndrome type 1		Hereditary cerebral hemorrhage with amyloidosis, Arctic type
	Synonym(s): - Classic Pfeiffer syndrome		Synonym(s): - HCHWA, Arctic type

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - 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 dominant		Epidemiological data: (no data available)

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


COMMON SIGNS	- Autosomal dominant inheritance

Pfeiffer syndrome type 1		Hereditary cerebral hemorrhage with amyloidosis, Arctic type
	Very frequent - Brachycephaly / flat occiput - Broad / bifid big toe - Broad / bifid thumb - Depressed nasal bridge - High forehead - High vaulted / narrow palate - Hypertelorism - Mid-facial hypoplasia / short / small midface - Short big toe - Short / small nose - Thumb hypoplasia / aplasia / absence Frequent - Low set ears / posteriorly rotated ears - Proptosis / exophthalmos - Short foot / brachydactyly of toes - Short hand / brachydactyly - Syndactyly of fingers / interdigital palm - Syndactyly of toes Occasional - Hearing loss / hypoacusia / deafness - Stenosis of aqueduc of Sylvius		Very frequent - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline