Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 11

1.

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:
9030
Concept ID:
C0017638
Neoplastic Process
2.

Astrocytoma

Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082) [from MeSH]

MedGen UID:
438
Concept ID:
C0004114
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.

Astrocytoma

Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma. [from HPO]

MedGen UID:
506296
Concept ID:
CN008457
Finding
5.

Congenital myasthenic syndrome

Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e.g., ocular, bulbar, limb muscles) with onset at or shortly after birth or in early childhood; rarely, symptoms may not manifest until later in childhood. Cardiac and smooth muscle are usually not involved. Severity and course of disease are highly variable, ranging from minor symptoms to progressive disabling weakness. In some subtypes of CMS, myasthenic symptoms may be mild, but sudden severe exacerbations of weakness or even sudden episodes of respiratory insufficiency may be precipitated by fever, infections, or excitement. Major findings of the neonatal-onset subtype include: respiratory insufficiency with sudden apnea and cyanosis; feeding difficulties; poor suck and cry; choking spells; eyelid ptosis; and facial, bulbar, and generalized weakness. Arthrogryposis multiplex congenita may also be present. Stridor in infancy may be an important clue to CMS. Later childhood-onset subtypes show abnormal muscle fatigability with difficulty in activities such as running or climbing stairs; motor milestones may be delayed; fluctuating eyelid ptosis and fixed or fluctuating extraocular muscle weakness are common presentations. [from GeneReviews]

MedGen UID:
155650
Concept ID:
C0751882
Disease or Syndrome
6.

Speech-language disorder 1

Speech-language disorder-1 is an autosomal dominant disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech. Affected individuals were originally thought to have specific defects in the use of grammatical suffixation rules (Gopnik, 1990; Gopnik and Crago, 1991). The phenotype, however, is broader in nature, with virtually every aspect of grammar and language affected (Fisher et al., 1998). Vargha-Khadem et al. (1998) concluded that the disorder is characterized by abnormal development of several brain areas critical for both orofacial movements and sequential articulation, resulting in marked disruption of speech and expressive language. Relation to Specific Language Impairment Children who fail to develop expressive and/or receptive language normally, in the absence of explanatory factors such as neurologic disorders, hearing impairment, or lack of adequate opportunity, are clinically described as having specific language impairment (SLI) (Bartlett et al., 2002). SLI has a prevalence of approximately 2% (Fisher et al., 1998) to 7% (Bartlett et al., 2002) in children entering school and is associated with later difficulties in learning to read. SLI aggregates in families, and increased monozygotic versus dizygotic twin concordance rates indicate that heredity, not just shared environment, is the cause of familial clustering (summary by Bartlett et al., 2002). The majority of families segregating such disorders show complex patterns of inheritance (Fisher et al., 1998). Quantitative trait loci (QTLs) involved in specific language impairment, a phenotype that shows some overlap with SPCH1, have been mapped to chromosomes 16q (SLI1; 606711), 19q (SLI2; 606712), 13q21 (SLI3; 607134), and 7q35-q36 (SLI4; 612514). See also familial developmental dysphasia (600117). [from OMIM]

MedGen UID:
152917
Concept ID:
C0750927
Mental or Behavioral Dysfunction
7.

Neuroepithelial neoplasm

Neoplasms composed of neuroepithelial cells, which have the capacity to differentiate into NEURONS, oligodendrocytes, and ASTROCYTES. The majority of craniospinal tumors are of neuroepithelial origin. (From Dev Biol 1998 Aug 1;200(1):1-5) [from MeSH]

MedGen UID:
60215
Concept ID:
C0206715
Neoplastic Process
8.

Neuroectodermal neoplasm

A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells. [from HPO]

MedGen UID:
60072
Concept ID:
C0206093
Neoplastic Process
9.

Unspecified encephalopathy

Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. [from HPO]

MedGen UID:
39314
Concept ID:
C0085584
Disease or Syndrome
10.

Nervous tissue neoplasm

A neoplasm derived from nervous tissue (not necessarity a neoplasm located in the nervous system). [from HPO]

MedGen UID:
14324
Concept ID:
C0027665
Neoplastic Process
11.

Neoplasm of brain

A brain tumor is a growth of abnormal cells in the tissues of the brain. Brain tumors can be benign, with no cancer cells, or malignant, with cancer cells that grow quickly. Some are primary brain tumors, which start in the brain. Others are metastatic, and they start somewhere else in the body and move to the brain. Brain tumors can cause many symptoms. Some of the most common are. -Headaches, often in the morning . -Nausea and vomiting. -Changes in your ability to talk, hear, or see. -Problems with balance or walking. -Problems with thinking or memory . -Feeling weak or sleepy. -Changes in your mood or behavior. -Seizures. Doctors diagnose brain tumors by doing a neurologic exam and tests including an MRI, CT scan, and biopsy. Treatment options include watchful waiting, surgery, radiation therapy, chemotherapy, and targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells. Many people get a combination of treatments. NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
14216
Concept ID:
C0006118
Neoplastic Process
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center