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Neurofibromatosis, type III, mixed central and peripheral(NF3A)

MedGen UID:
419422
Concept ID:
C2931480
Disease or Syndrome
Synonyms: Neurofibromatosis type 3A; Neurofibromatosis, Type 3, mixed central and peripheral; Neurofibromatosis, Type 3, Riccardi type; NEUROFIBROMATOSIS, TYPE III, OF RICCARDI; NEUROFIBROMATOSIS, TYPE III, RICCARDI TYPE; NF 3A; NF III; NF3A
 
Monarch Initiative: MONDO:0008080
OMIM®: 162260

Clinical features

From HPO
Palmar neurofibroma
MedGen UID:
870396
Concept ID:
C4024841
Neoplastic Process
A neurofibroma (benign peripheral nerve sheath tumor) localized in the palm of the hand.
Meningioma
MedGen UID:
7532
Concept ID:
C0025286
Neoplastic Process
The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.
Bilateral vestibular schwannoma
MedGen UID:
209678
Concept ID:
C1136042
Neoplastic Process
A bilateral vestibular schwannoma (acoustic neurinoma).
Paraspinal neurofibroma
MedGen UID:
870537
Concept ID:
C4024985
Neoplastic Process
A neurofibroma (benign peripheral nerve sheath tumor) localized adjacent to the spine.
Few cafe-au-lait spots
MedGen UID:
870435
Concept ID:
C4024881
Finding
The presence of two to five cafe-au-lait macules.
Lisch nodules
MedGen UID:
395461
Concept ID:
C1860334
Finding
The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris..

Recent clinical studies

Etiology

Stivaros S, Garg S, Tziraki M, Cai Y, Thomas O, Mellor J, Morris AA, Jim C, Szumanska-Ryt K, Parkes LM, Haroon HA, Montaldi D, Webb N, Keane J, Castellanos FX, Silva AJ, Huson S, Williams S, Gareth Evans D, Emsley R, Green J; SANTA Consortium
Mol Autism 2018;9:12. Epub 2018 Feb 22 doi: 10.1186/s13229-018-0190-z. PMID: 29484149Free PMC Article

Therapy

Stivaros S, Garg S, Tziraki M, Cai Y, Thomas O, Mellor J, Morris AA, Jim C, Szumanska-Ryt K, Parkes LM, Haroon HA, Montaldi D, Webb N, Keane J, Castellanos FX, Silva AJ, Huson S, Williams S, Gareth Evans D, Emsley R, Green J; SANTA Consortium
Mol Autism 2018;9:12. Epub 2018 Feb 22 doi: 10.1186/s13229-018-0190-z. PMID: 29484149Free PMC Article

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