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LZTR1-related schwannomatosis(SWN2)

MedGen UID:
816613
Concept ID:
C3810283
Disease or Syndrome
Synonyms: Schwannomatosis 2; Schwannomatosis-2, susceptibility to
 
Gene (location): LZTR1 (22q11.21)
 
Monarch Initiative: MONDO:0014299
OMIM®: 615670

Authors:

Additional descriptions

From OMIM
Schwannomatosis is an adult-onset tumor predisposition syndrome characterized by the development of multiple schwannomas in various areas of the body (summary by Piotrowski et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of schwannomatosis, see SWN1 (162091).  http://www.omim.org/entry/615670
From MedlinePlus Genetics
The signs and symptoms of schwannomatosis usually appear in early adulthood. The most common symptom is long-lasting (chronic) pain, which can affect any part of the body. In some cases, the pain is felt in areas where there are no known tumors. The pain associated with this condition ranges from mild to severe and can be difficult to manage. Other signs and symptoms that can occur with schwannomatosis depend on the location of the tumors and which nerves are affected. These problems include numbness, weakness, tingling, and headaches. The life expectancy of people with schwannomatosis is normal.

Schwannomatosis is usually considered to be a form of neurofibromatosis, which is a group of disorders characterized by the growth of tumors in the nervous system. The other two recognized forms of neurofibromatosis are neurofibromatosis type 1 and neurofibromatosis type 2. The features of schwannomatosis can be very similar to those of neurofibromatosis type 2. However, schwannomatosis almost never includes inner ear tumors called vestibular schwannomas, which are a hallmark of neurofibromatosis type 2. Additional features of the other forms of neurofibromatosis, including the development of other types of tumors, are much less common in schwannomatosis.

Schwannomatosis is a disorder characterized by multiple noncancerous (benign) tumors called schwannomas, which are a type of tumor that grows on nerves. Schwannomas develop when Schwann cells, which are specialized cells that normally form an insulating layer around the nerve, grow uncontrollably to form a tumor.  https://medlineplus.gov/genetics/condition/schwannomatosis

Clinical features

From HPO
Schwannoma
MedGen UID:
45053
Concept ID:
C0027809
Neoplastic Process
A benign nerve sheath tumor composed of Schwann cells.
Spinal cord tumor
MedGen UID:
11551
Concept ID:
C0037930
Neoplastic Process
A neoplasm affecting the spinal cord.

Professional guidelines

PubMed

Smith MJ, Bowers NL, Bulman M, Gokhale C, Wallace AJ, King AT, Lloyd SK, Rutherford SA, Hammerbeck-Ward CL, Freeman SR, Evans DG
Neurology 2017 Jan 3;88(1):87-92. Epub 2016 Nov 16 doi: 10.1212/WNL.0000000000003418. PMID: 27856782Free PMC Article

Recent clinical studies

Etiology

Sadler KV, Bowes J, Rowlands CF, Perez-Becerril C, van der Meer CM, King AT, Rutherford SA, Pathmanaban ON, Hammerbeck-Ward C, Lloyd SKW, Freeman SR, Williams R, Hannan CJ, Lewis D, Eyre S, Evans DG, Smith MJ
Brain 2023 Jul 3;146(7):2861-2868. doi: 10.1093/brain/awac478. PMID: 36546557Free PMC Article
Smith MJ, Bowers NL, Bulman M, Gokhale C, Wallace AJ, King AT, Lloyd SK, Rutherford SA, Hammerbeck-Ward CL, Freeman SR, Evans DG
Neurology 2017 Jan 3;88(1):87-92. Epub 2016 Nov 16 doi: 10.1212/WNL.0000000000003418. PMID: 27856782Free PMC Article

Diagnosis

Forde C, Smith MJ, Burghel GJ, Bowers N, Roberts N, Lavin T, Halliday J, King AT, Rutherford S, Pathmanaban ON, Lloyd S, Freeman S, Halliday D, Parry A, Axon P, Buttimore J, Afridi S, Obholzer R, Laitt R, Thomas O, Stivaros SM, Vassallo G, Evans DG
J Med Genet 2024 Aug 29;61(9):856-860. doi: 10.1136/jmg-2024-110065. PMID: 38925914
Muthusamy K, Mrugala MM, Bendok BR, Dhamija R
Mol Genet Genomic Med 2021 Jan;9(1):e1560. Epub 2020 Dec 2 doi: 10.1002/mgg3.1560. PMID: 33269527Free PMC Article
Deiller C, Van-Gils J, Zordan C, Tinat J, Loiseau H, Fabre T, Delleci C, Cohen J, Vidaud M, Parfait B, Goizet C
Eur J Med Genet 2019 Aug;62(8):103680. Epub 2019 May 22 doi: 10.1016/j.ejmg.2019.103680. PMID: 31128261
Gripp KW, Baker L, Kandula V, Piatt J, Walter A, Chen Z, Messiaen L
Clin Genet 2017 Nov;92(5):540-543. Epub 2017 Apr 19 doi: 10.1111/cge.13013. PMID: 28295212
Smith MJ, Bowers NL, Bulman M, Gokhale C, Wallace AJ, King AT, Lloyd SK, Rutherford SA, Hammerbeck-Ward CL, Freeman SR, Evans DG
Neurology 2017 Jan 3;88(1):87-92. Epub 2016 Nov 16 doi: 10.1212/WNL.0000000000003418. PMID: 27856782Free PMC Article

Prognosis

Gripp KW, Baker L, Kandula V, Piatt J, Walter A, Chen Z, Messiaen L
Clin Genet 2017 Nov;92(5):540-543. Epub 2017 Apr 19 doi: 10.1111/cge.13013. PMID: 28295212

Clinical prediction guides

Sadler KV, Bowes J, Rowlands CF, Perez-Becerril C, van der Meer CM, King AT, Rutherford SA, Pathmanaban ON, Hammerbeck-Ward C, Lloyd SKW, Freeman SR, Williams R, Hannan CJ, Lewis D, Eyre S, Evans DG, Smith MJ
Brain 2023 Jul 3;146(7):2861-2868. doi: 10.1093/brain/awac478. PMID: 36546557Free PMC Article
Deiller C, Van-Gils J, Zordan C, Tinat J, Loiseau H, Fabre T, Delleci C, Cohen J, Vidaud M, Parfait B, Goizet C
Eur J Med Genet 2019 Aug;62(8):103680. Epub 2019 May 22 doi: 10.1016/j.ejmg.2019.103680. PMID: 31128261
Gripp KW, Baker L, Kandula V, Piatt J, Walter A, Chen Z, Messiaen L
Clin Genet 2017 Nov;92(5):540-543. Epub 2017 Apr 19 doi: 10.1111/cge.13013. PMID: 28295212

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