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1.

Neurofibromatosis, type 1

Neurofibromatosis 1 (NF1) is characterized by multiple café au lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, iris Lisch nodules, and choroidal freckling. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically. Learning disabilities are present in at least 50% of individuals with NF1. Less common but potentially more serious manifestations include optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vasculopathy. [from GTR]

MedGen UID:
18013
Concept ID:
C0027831
Neoplastic Process
2.

Glioma

A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas. [from NCI]

MedGen UID:
9030
Concept ID:
C0017638
Neoplastic Process
3.

Glioma

The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes). [from HPO]

MedGen UID:
506305
Concept ID:
CN008593
Finding
4.

Neurofibromas

A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72) [from MeSH]

MedGen UID:
58149
Concept ID:
C0162678
Neoplastic Process
5.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
6.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
7.

Tumor susceptibility linked to germline BAP1 mutations

BAP1 tumor predisposition syndrome (BAP1-TPDS) is associated with an increased risk for the specific skin lesion – atypical Spitz tumors – and the following cancers, in descending order of frequency: uveal (eye) melanoma (UM), malignant mesothelioma (MMe), cutaneous melanoma (CM), clear cell renal cell carcinoma (ccRCC), and basal cell carcinoma (BCC). Affected individuals can have more than one type of primary cancer. In general the median age of onset of these tumors is younger than in the general population. UM tends to be a more aggressive class 2 tumor with higher risk for metastasis and reduced survival compared to UM that occurs in the general population. However, because of the limited number of families reported to date, the penetrance, natural history, and frequencies of the BAP1-associated tumors are yet to be determined. Other suspected but unconfirmed tumors in BAP1-TPDS include (in alphabetic order): breast cancer, cholangiocarcinoma, non-small cell lung adenocarcinoma (NSCLC), meningioma, and neuroendocrine carcinoma. [from GTR]

MedGen UID:
482122
Concept ID:
C3280492
Disease or Syndrome
8.

Abnormal

Deviating in any way from the state, position, structure, condition, behavior, or rule which is considered a norm. [from NCI]

MedGen UID:
59964
Concept ID:
C0205161
Finding
9.

Hereditary cancer-predisposing syndrome

The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance. [from MeSH]

MedGen UID:
14326
Concept ID:
C0027672
Neoplastic Process
10.

Epithelial Neoplasm

A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas. [from NCI]

MedGen UID:
277963
Concept ID:
C1368683
Neoplastic Process
11.

Perineurioma

A rare, almost always benign tumor composed entirely of neoplastic perineurial cells. It may occur in the soft tissues, intraneurally or in mucosal sites. [from NCI]

MedGen UID:
199712
Concept ID:
C0751691
Neoplastic Process
12.

Cancer, Embryonal

MedGen UID:
199639
Concept ID:
C0751364
Neoplastic Process
13.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
14.

Heredodegenerative Disorders, Nervous System

Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems. [from MeSH]

MedGen UID:
155945
Concept ID:
C0751870
Disease or Syndrome
15.

Ependymoastrocytoma

MedGen UID:
155907
Concept ID:
C0751677
Neoplastic Process
16.

Polar Spongioblastoma

A lesion characterized by the presence of neoplastic neuroepithelial cells with palisading nuclei. This lesion implies a morphologic growth pattern and it is not considered a clinicopathological entity. [from NCI]

MedGen UID:
154309
Concept ID:
C0555199
Neoplastic Process
17.

Sequence Deletion

Deletion of sequences of nucleic acids from the genetic material of an individual. [from MeSH]

MedGen UID:
102460
Concept ID:
C0162773
Cell or Molecular Dysfunction
18.

Neurodegenerative disease

Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures. [from MeSH]

MedGen UID:
101195
Concept ID:
C0524851
Disease or Syndrome
19.

Astroblastoma

A rare glial neoplasm more commonly found in young adults. It is characterized by tumor cells with characteristics suggestive of an astrocytic origin (positive for GFAP), arranged perivascularly. The cells have broad, non-tapering processes radiating towards a central blood vessel. The biologic behavior of astroblastomas is variable, so no WHO grade has been established, yet. (Adapted from WHO.) [from NCI]

MedGen UID:
90811
Concept ID:
C0334587
Neoplastic Process
20.

Mutagenesis

Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS. [from MeSH]

MedGen UID:
86969
Concept ID:
C0079866
Molecular Function
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