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Neurofibromatosis type 3
3 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Kleefstra syndrome due to 9q34 microdeletion
1 associated gene
35 signs/symptoms
Neurofibromatosis type 3
Kleefstra syndrome due to 9q34 microdeletion

LZTR1
(UniProt - OMIM)
 EHMT1
(UniProt - OMIM)
NF2
(UniProt - OMIM)
SMARCB1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
LZTR1
(0.63)
EHMT1


Citations in the biomedical literature:


Neurofibromatosis type 3
LZTR1 NF2 SMARCB1
Kleefstra syndrome due to 9q34 microdeletion
EHMT1



Neurofibromatosis type 3
Kleefstra syndrome due to 9q34 microdeletion

Synonym(s):
- NF3
- Neurilemmomatosis
- Schwannomatosis
Synonym(s):
- 9q subtelomeric deletion syndrome
- 9qSTDS
- Kleefstra syndrome due to 9q subtelomeric deletion
- Kleefstra syndrome due to del(9)(q34)
- Kleefstra syndrome due to monosomy 9q34
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
3 OMIM references -
1 MeSH reference: C536641
External references:
No OMIM references
No MeSH references
Kleefstra syndrome due to 9q34 microdeletion

Very frequent
- Anteverted nares / nostrils
- Brachycephaly / flat occiput
- Everted lower lip
- High arched eyebrows
- Hypertelorism
- Hypotonia
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short / small nose
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Cardiac septal defect
- Downturned mouth
- Generalized obesity
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Microcephaly
- Mid-facial hypoplasia / short / small midface
- Seizures / epilepsy / absences / spasms / status epilepticus
- Synophris / synophrys
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Autism / autistic disoders
- Corpus callosum / septum pellucidum total / partial agenesis
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Dilated cerebral ventricles without hydrocephaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hearing loss / hypoacusia / deafness
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Inguinal / inguinoscrotal / crural hernia
- Micropenis / small penis / agenesis
- Renal failure
- Sleep and vigilance disorders
- Tetralogy of Fallot / trilogy of Fallot
- Umbilical hernia
- Vesicorenal / vesicoureteral reflux


Neurofibromatosis type 3

(no data available)