Neurofibromatosis Type 2

Description

Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.

Clinical Features

Top most frequent phenotypes and symptoms related to Neurofibromatosis Type 2

  • Ataxia
  • Sensorineural hearing impairment
  • Cataract
  • Visual impairment
  • Gait disturbance
  • Facial palsy
  • Corneal opacity
  • Papule
  • Vertigo
  • Sensory neuropathy

And another 15 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available NEUROFIBROMATOSIS TYPE 2 have a estimated prevalence of 1.7 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Neurofibromatosis Type 2 Is also known as nf2, bilateral acoustic neurofibromatosis, central neurofibromatosis.

Researches and researchers

Doctors, researchs, and experts related to Neurofibromatosis Type 2 extracted from public data.

Neurofibromatosis Type 2 Experts map



Current Researchs and researchers

  • — Pr Sarah HUGHES

    Investigator of research project

    • Institution/s:
      — University of Alberta
    • Research area/topic::

      Indentification and characterization of Merlin interacting proteins


  • CRÉTEIL — RÉSEAU NF-FRANCE

    Coordinator of research network

    • Institution/s:
      — CHU Henri Mondor
    • Research area/topic::

      NF-France Network


  • CRÉTEIL — Pr Pierre WOLKENSTEIN

    Coordinator of expert centre - Clinical expert - Principal investigator of clinical trial - Contact person of registry - Coordinator of research network

    • Institution/s:
      — CHU Henri Mondor
    • Research area/topic::

      GM: study group on neurofibromatosis - part of the Genodermatosis in Mediterranean network


  • LYON — Dr Patrick COMBEMALE

    Coordinator of expert centre - Clinical expert - Coordinator of research network

    • Institution/s:
      — Unité de dermatologie, CLCC Léon Bérard
    • Research area/topic::

      NF-France Network


  • PARIS — Pr Smaïl HADJ-RABIA

    Coordinator of expert centre - Clinical expert - Investigator of research project - Coordinator of research network

    • Institution/s:
      — Service de dermatologie, CHU Paris - Hôpital Necker-Enfants Malades
      — CHU Paris - Hôpital Necker-Enfants Malades
    • Research area/topic::

      Réseau sur les neurofibromatoses


  • ERFURT — Pr Steffen ROSAHL

    Coordinator of expert centre - Clinical expert - Investigator of research project

    • Institution/s:
      — Helios Klinikum Erfurt
    • Research area/topic::

      Growth patterns of NF2-associated tumors


Neurofibromatosis Type 2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Brain, CNS, PNS Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

TP53, VHL, SUFU, PALB2, ALK, APC, MEN1, MLH1, MRE11, MSH2, MSH6, NBN, NF2, ATM, PMS2, PHOX2B, PTCH1
Specificity
6 %
Genes
100 %
Hereditary Brain, CNS, PNS Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

TP53, VHL, SUFU, PALB2, ALK, APC, MEN1, MLH1, MRE11, MSH2, MSH6, NBN, NF2, ATM, PMS2, PHOX2B, PTCH1
Specificity
6 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Neurofibromatosis Type 2 (NF2) Duplication/Deletion Test.

By Athena Diagnostics Inc (United States).

NF2
Specificity
100 %
Genes
100 %
Neurofibromatosis Type 2 (NF2) Evaluation.

By Athena Diagnostics Inc (United States).

NF2
Specificity
100 %
Genes
100 %
Neurofibromatosis Type 2 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

NF2
Specificity
100 %
Genes
100 %
NGS RASopathy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RRAS, BRAF, SOS1, SOS2, CBL, SHOC2, KAT6B, SPRED1, A2ML1, CABIN1, NSUN2, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Neurofibromatosis Syndrome 2.

By Center for Human Genetics, Inc (United States).

NF2
Specificity
100 %
Genes
100 %

You can get up to 114 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SYNPOLYDACTYLY 2; SPD2 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T; CMT2T BLOOD GROUP, DUFFY SYSTEM; FY BILE ACID MALABSORPTION, PRIMARY; PBAM DENTAL ANOMALIES AND SHORT STATURE; DASS FRONTOTEMPORAL DEMENTIA; FTD JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1