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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
2 associated genes
32 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Crouzon disease

APP ERF
FGFR2


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Crouzon disease
ERF FGFR2



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Crouzon disease

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- Crouzon craniofacial dysostosis

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

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal dominant inheritance


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Crouzon disease

Very frequent
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline



Very frequent
- Craniostenosis / craniosynostosis / sutural synostosis
- Facial dysmorphism
- Frontal bossing / prominent forehead
- High forehead
- Skull / cranial anomalies

Frequent
- Arnold-Chiari anomaly
- Brachycephaly / flat occiput
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Conductive deafness / hearing loss
- Cranial hypertension
- Hypertelorism
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Ptosis
- Strabismus / squint
- Turricephaly / oxycephaly / acrocephaly

Occasional
- Acanthosis nigricans
- Beaked nose
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Choanal atresia
- Coloboma of iris
- External auditory canal atresia / stenosis / agenesis
- Facial pain / cephalalgia / migraine
- Hearing loss / hypoacusia / deafness
- High vaulted / narrow palate
- Hydrocephaly
- Irregular / patchy skin hypopigmentation
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Pigmented naevi / naevus pigmentosus / lentigo
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Sacro-coccyx / sacrum anomaly
- Visual loss / blindness / amblyopia