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Results: 19

1.

Neurofibromas

The presence of multiple cutaneous neurofibromas. [from HPO]

MedGen UID:
504707
Concept ID:
CN001002
Finding
2.

Neurofibromatosis-Noonan syndrome

MedGen UID:
419089
Concept ID:
C2931482
Disease or Syndrome
3.

Neurofibromatosis

Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves. You can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes. Once you have it, you can pass it along to your children. . There are three types of neurofibromatosis: : - Type 1 (NF1) causes skin changes and deformed bones and usually starts at birth. - Type 2 (NF2) causes hearing loss, ringing in the ears and poor balance. It often starts in the teen years. - Schwannomatosis causes intense pain. It is the rarest type. There is no cure. Treatment is aimed at controlling symptoms. Depending on the type of disease and how bad it is, treatment may include surgery to remove tumors, radiation therapy and medicines. . NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
58149
Concept ID:
C0162678
Neoplastic Process
4.

Neurofibromatosis, type 1

Neurofibromatosis 1 (NF1) is characterized by multiple café-au-lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch nodules. Learning disabilities are present in at least 50% of individuals with NF1. Less common but potentially more serious manifestations include plexiform neurofibromas, optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vasculopathy. [from GeneReviews]

MedGen UID:
18013
Concept ID:
C0027831
Neoplastic Process
5.

Complication Aspects

Used with diseases to indicate conditions that co-exist or follow, i.e., co-existing diseases, complications, or sequelae. [from MeSH]

MedGen UID:
223946
Concept ID:
C1171258
Pathologic Function
6.

Down-regulation

A negative regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins. [from MeSH]

MedGen UID:
4386
Concept ID:
C0013081
Molecular Function
7.

Perineurioma

A rare, benign tumor composed entirely of neoplastic perineurial cells. It may occur intraneurally or in the soft tissues. (Adapted from WHO) [from NCI]

MedGen UID:
199712
Concept ID:
C0751691
Neoplastic Process
8.

Genetic Diseases, Inborn

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
9.

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
10.

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
11.

Neurodegenerative Disorders

Neurodegenerative disorders, such as Hunter syndrome, or sensory motor neuropathies, such as Friedreich ataxia and Charcot-Marie-Tooth syndrome. [from LNC]

MedGen UID:
101195
Concept ID:
C0524851
Disease or Syndrome
12.

Neurocutaneous syndrome

A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs. [from MeSH]

MedGen UID:
82706
Concept ID:
C0265316
Congenital Abnormality
13.

Nerve Sheath Neoplasm

Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category. [from MeSH]

MedGen UID:
64639
Concept ID:
C0206727
Neoplastic Process
14.

Neurofibroma

A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands. (From Adams et al., Principles of Neurology, 6th ed, p1016) [from MeSH]

MedGen UID:
45058
Concept ID:
C0027830
Neoplastic Process
15.

Peripheral Neuropathy

Your peripheral nerves are the ones outside your brain and spinal cord. Like static on a telephone line, peripheral nerve disorders distort or interrupt the messages between the brain and the rest of the body. . There are more than 100 kinds of peripheral nerve disorders. They can affect one nerve or many nerves. Some are the result of other diseases, like diabetic nerve problems. Others, like Guillain-Barre syndrome, happen after a virus infection. Still others are from nerve compression, like carpal tunnel syndrome or thoracic outlet syndrome. In some cases, like complex regional pain syndrome and brachial plexus injuries, the problem begins after an injury. Some people are born with peripheral nerve disorders. Symptoms often start gradually, and then get worse. They include : - Numbness. - Pain. - Burning or tingling. - Muscle weakness. - Sensitivity to touch. Treatment aims to treat any underlying problem, reduce pain and control symptoms. NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
16.

Neoplastic Syndromes, Hereditary

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
17.

Nervous tissue neoplasm

Neoplasms composed of nerve tissue. This concept does not refer to neoplasms located in the nervous system or its component nerves. [from MeSH]

MedGen UID:
14324
Concept ID:
C0027665
Neoplastic Process
18.

Neuromuscular Diseases

Neuromuscular disorders affect the nerves that control your voluntary muscles. Voluntary muscles are the ones you can control, like in your arms and legs. Your nerve cells, also called neurons, send the messages that control these muscles. When the neurons become unhealthy or die, communication between your nervous system and muscles breaks down. As a result, your muscles weaken and waste away. The weakness can lead to twitching, cramps, aches and pains, and joint and movement problems. Sometimes it also affects heart function and your ability to breathe. Examples of neuromuscular disorders include: -Amyotrophic lateral sclerosis. -Multiple sclerosis. -Myasthenia gravis. -Spinal muscular atrophy. Many neuromuscular diseases are genetic, which means they run in families or there is a mutation in your genes. Sometimes, an immune system disorder can cause them. Most of them have no cure. The goal of treatment is to improve symptoms, increase mobility and lengthen life.  [from MedlinePlus]

MedGen UID:
10323
Concept ID:
C0027868
Disease or Syndrome
19.

HRAS Gene Mutation

MedGen UID:
353756
Concept ID:
C1708289
Cell or Molecular Dysfunction

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