Cytoscape Web
Click node...

Antley-Bixler syndrome
1 OMIM reference -
1 associated gene
30 signs/symptoms
PROTEIN INTERACTIONS: 1
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
1 OMIM reference -
1 associated gene
13 signs/symptoms
Antley-Bixler syndrome
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

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

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


Citations in the biomedical literature:


Antley-Bixler syndrome
FGFR2
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
APP



Antley-Bixler syndrome
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

Synonym(s):
(no synonyms)

Synonym(s):
- HCHWA, Piedmont 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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: C537780
External references:
1 OMIM reference -
No MeSH references
Antley-Bixler syndrome
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

Very frequent
- Anteverted nares / nostrils
- Autosomal recessive inheritance
- Brachycephaly / flat occiput
- Camptodactyly of fingers
- Congenital cardiac anomaly / malformation / cardiopathy
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Flat cheek bones / malar hypoplasia
- Frontal bossing / prominent forehead
- Humeroradial fusion
- Long hand / arachnodactyly
- Low set ears / posteriorly rotated ears
- Narrow rib cage / thorax
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Restricted joint mobility / joint stiffness / ankylosis
- Rib structure anomalies
- Short / small nose

Frequent
- Choanal atresia
- Craniostenosis / craniosynostosis / sutural synostosis
- Proptosis / exophthalmos
- Structural anomalies of the kidney and the urinary tract

Occasional
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Flat supraorbital ridge
- Hypertelorism
- Long philtrum
- Microstomia / little mouth
- Mutiple fractures / bone fragility
- Strabismus / squint
- Talipes-varus / metatarsal varus
- Turricephaly / oxycephaly / acrocephaly


Very frequent
- Autosomal dominant inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability
- 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