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7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
31 signs/symptoms
Pilocytic astrocytoma
Proximal 16p11.2 microdeletion syndrome

BRAF SH2B1
FGFR1
KIAA1549
KRAS
NTRK2
RAF1
SRGAP3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NTRK2
(0.75)
SH2B1



Citations in the biomedical literature:


Pilocytic astrocytoma
BRAF FGFR1 KIAA1549 KRAS NTRK2 RAF1
SRGAP3
Proximal 16p11.2 microdeletion syndrome
SH2B1



Pilocytic astrocytoma
Proximal 16p11.2 microdeletion syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Proximal del(16)(p11.2)
- Proximal monosomy 16p11.2

Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease

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

Epidemiological data:
Class of prevalence: -
Average age onset: variable
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal dominant

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

Proximal 16p11.2 microdeletion syndrome

Very frequent
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Autism / autistic disoders
- Broad forehead
- EEG anomalies
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Mid-facial hypoplasia / short / small midface
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Atrial septal defect / interauricular communication
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Coloboma of the optic nerve
- Diaphragmatic hernia / defect / agenesis
- Dilated cerebral ventricles without hydrocephaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Gastric / pyloric stenosis
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Generalized obesity
- Hyperactivity / attention deficit
- Hypertelorism
- Hypotonia
- Micrognathia / retrognathia / micrognathism / retrognathism
- Myopia
- Psychosis / schizophrenia / maniac disorder
- Scoliosis
- Strabismus / squint
- Syringomelia
- Upper limb polydactyly / hexadactyly
- Vertebral segmentation anomaly / hemivertebrae


Pilocytic astrocytoma

(no data available)