Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
45 signs/symptoms
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Apert syndrome

CBL FGFR2


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
CBL
Apert syndrome
FGFR2



Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Apert syndrome

Synonym(s):
- CBL syndrome
- Noonan syndrome-like disorder with JMML

Synonym(s):
- ACS1
- Acrocephalosyndactyly type 1

Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 100 000
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 -
1 MeSH reference: D000168

Apert syndrome

Very frequent
- Autosomal dominant inheritance
- Brachycephaly / flat occiput
- Conductive deafness / hearing loss
- Depressed nasal bridge
- Flat face
- Frontal bossing / prominent forehead
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Proptosis / exophthalmos
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Turricephaly / oxycephaly / acrocephaly

Frequent
- Beaked nose
- Broad / bifid thumb
- Chronic arterial hypertension
- Corpus callosum / septum pellucidum total / partial agenesis
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Depressed premaxillary region / midface
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- High vaulted / narrow palate
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Large fontanelle / delayed fontanelle closure
- Prognathism / prognathia
- Strabismus / squint
- Structural anomalies of inner ear / cochlea / vestible / semicircular canals
- Thumb hypoplasia / aplasia / absence
- Vertebral segmentation anomaly / hemivertebrae

Occasional
- Anus ectopia / anteposition / malposition
- Arnold-Chiari anomaly
- Choanal atresia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Cloverleaf skull
- Congenital cardiac anomaly / malformation / cardiopathy
- Corneal ulceration / perforation
- Dilated cerebral ventricles without hydrocephaly
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hydrocephaly
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Ovary / ovarian teratoma / germinoma
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Rhizomelic micromelia
- Sensorineural deafness / hearing loss
- Visual loss / blindness / amblyopia


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

(no data available)