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Antley-Bixler syndrome
1 OMIM reference -
1 associated gene
30 signs/symptoms
PROTEIN INTERACTIONS: 1
Juvenile myelomonocytic leukemia
1 OMIM reference -
5 associated genes
No signs/symptoms info
Antley-Bixler syndrome
Juvenile myelomonocytic leukemia

FGFR2
(UniProt - OMIM)
 CBL
(UniProt - OMIM)
KRAS
(UniProt - OMIM)
NF1
(UniProt - OMIM)
NRAS
(UniProt - OMIM)
PTPN11
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
FGFR2
(0.63)
CBL


Citations in the biomedical literature:


Antley-Bixler syndrome
FGFR2
Juvenile myelomonocytic leukemia
CBL KRAS NF1 NRAS PTPN11



Antley-Bixler syndrome
Juvenile myelomonocytic leukemia

Synonym(s):
(no synonyms)

Synonym(s):
- Juvenile chronic myelomonocytic leukemia
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -
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 -
1 MeSH reference: D054429
Antley-Bixler syndrome

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


Juvenile myelomonocytic leukemia

(no data available)