ODCs

Cytoscape Web

Click node...

Neurofibromatosis type 3

3 OMIM references -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
15 signs/symptoms

Neurofibromatosis type 3

Trisomy Xq28

LZTR1	(UniProt - OMIM)		MECP2	(UniProt - OMIM)
NF2	(UniProt - OMIM)
SMARCB1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SMARCB1	(0.92)	MECP2

Citations in the biomedical literature:

Neurofibromatosis type 3		Trisomy Xq28
	Synonym(s): - NF3 - Neurilemmomatosis - Schwannomatosis		Synonym(s): - Distal duplication Xq - Telomeric duplication Xq

	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: 1 OMIM reference - No MeSH references

Trisomy Xq28
	Very frequent - Blepharophimosis / short palpebral fissures - Delayed bone age - Epicanthic folds - Everted lower lip - Intellectual deficit / mental / psychomotor retardation / learning disability - Ptosis - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Tented upper lip - Total / partial trisomy / duplication - Undescended / ectopic testes / cryptorchidia / unfixed testes Frequent - Abnormal gait - Inguinal / inguinoscrotal / crural hernia - Pectus excavatum Occasional - Restricted joint mobility / joint stiffness / ankylosis
Neurofibromatosis type 3
(no data available)