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MNGMA
MCID: MNN043
MIFTS: 70
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Meningioma, Familial (MNGMA)
Categories:
Cancer diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Meningioma, Familial:
Characteristics:Orphanet epidemiological data:59
familial multiple meningioma
Inheritance: Autosomal dominant; Age of onset: All ages; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
adult onset incomplete penetrance more common in women frequency increases with advancing age high recurrence rate HPO:32
meningioma, familial:
Onset and clinical course adult onset incomplete penetrance Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Anatomical: Neuronal diseases Eye diseases
ICD10:
33
34
External Ids:
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NIH Rare Diseases
:
53
Meningiomas are tumors that originate in the meninges, the membranes that surround the brain and spinal cord. Most meningiomas are not cancerous (benign), though a minority of meningiomas can be classified as atypical or cancerous (malignant). Though rare, malignant meningiomas can be highly aggressive. However, even benign meningiomas can cause problems if their growth affects neighboring areas of the brain. Though most meningiomas grow slowly, there is no way to predict the rate of growth for a particular meningioma or to know how long a specific meningioma was growing before it was diagnosed. Signs and symptoms can vary but may include seizures, headaches, weakness in the arms and legs, and vision loss. Sometimes memory loss, carelessness, and unsteadiness are the only symptoms. Management depends on the location of the meningioma and symptoms present and may include observation, surgery, and/or radiation therapy.
MalaCards based summary : Meningioma, Familial, also known as meningioma, is related to spinal meningioma and lung meningioma, and has symptoms including seizures and headache. An important gene associated with Meningioma, Familial is SMARCE1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily E, Member 1), and among its related pathways/superpathways are Endometrial cancer and Glioma. Affiliated tissues include brain, spinal cord and bone, and related phenotypes are meningioma and Increased cell death HMECs cells OMIM : 57 Meningiomas are, in general, slowly growing benign tumors derived from the arachnoidal cap cells of the leptomeninges, the soft coverings of the brain and spinal cord. Meningiomas are believed to be the most common primary tumors of the central nervous system in man. The vast majority of meningiomas are sporadic; familial occurrence of meningioma is rare (Zang, 2001). Familial or multiple meningiomas may also be seen in tumor predisposition syndromes. Some patients with schwannomatosis (162091), caused by mutation in the SMARCB1 gene, may develop meningiomas. One patient with malignant gliomas (GLM2; 613028) associated with a mutation in the PTEN gene (601728) developed a meningioma (Staal et al., 2002). (607174) UniProtKB/Swiss-Prot : 75 Meningioma: A common neoplasm of the central nervous system derived from arachnoidal cells. The majority of meningiomas are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Most cases are sporadic. Familial occurrence of meningioma is rare. Wikipedia : 76 Meningioma, also known as meningeal tumor, is typically a slow-growing tumor that forms from the... more... |
Human phenotypes related to Meningioma, Familial:32
UMLS symptoms related to Meningioma, Familial:seizures, headache GenomeRNAi Phenotypes related to Meningioma, Familial according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Meningioma, Familial:46 (show all 19)
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Inferred drug relations via UMLS 73 / NDF-RT 51 :Cochrane evidence based reviews: meningeal neoplasms |
MalaCards organs/tissues related to Meningioma, Familial:41
Brain,
Spinal Cord,
Bone,
Pituitary,
Lung,
Liver,
Myeloid
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Articles related to Meningioma, Familial:(show top 50) (show all 756)
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- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Meningioma, Familial:6 (show top 50) (show all 231)
Cosmic variations for Meningioma, Familial:9 (show top 50) (show all 6981)
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Search
GEO
for disease gene expression data for Meningioma, Familial.
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Pathways related to Meningioma, Familial according to GeneCards Suite gene sharing:(show all 19)
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Cellular components related to Meningioma, Familial according to GeneCards Suite gene sharing:
Biological processes related to Meningioma, Familial according to GeneCards Suite gene sharing:(show all 12)
Molecular functions related to Meningioma, Familial according to GeneCards Suite gene sharing:
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