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Items: 13

1.

Clostridium tetani toxin

Protein synthesized by CLOSTRIDIUM TETANI as a single chain of ~150 kDa with 35% sequence identity to BOTULINUM TOXIN that is cleaved to a light and a heavy chain that are linked by a single disulfide bond. Tetanolysin is the hemolytic and tetanospasmin is the neurotoxic principle. The toxin causes disruption of the inhibitory mechanisms of the CNS, thus permitting uncontrolled nervous activity, leading to fatal CONVULSIONS. [from MeSH]

MedGen UID:
52679
Concept ID:
C0039617
Amino Acid, Peptide, or Protein; Hazardous or Poisonous Substance; Pharmacologic Substance
2.

Tetanus

A disease caused by tetanospasmin, a powerful protein toxin produced by CLOSTRIDIUM TETANI. Tetanus usually occurs after an acute injury, such as a puncture wound or laceration. Generalized tetanus, the most common form, is characterized by tetanic muscular contractions and hyperreflexia. Localized tetanus presents itself as a mild condition with manifestations restricted to muscles near the wound. It may progress to the generalized form. [from MeSH]

MedGen UID:
21489
Concept ID:
C0039614
Disease or Syndrome
3.

Neuroblastoma

ALK-related neuroblastic tumor susceptibility results from heterozygosity for a germline ALK activating pathogenic variant in the tyrosine kinase domain that predisposes to neuroblastic tumors. The spectrum of neuroblastic tumors includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. Neuroblastoma is a more malignant tumor and ganglioneuroma a more benign tumor. Depending on the histologic findings ganglioneuroblastoma can behave in a more aggressive fashion, like neuroblastoma, or in a benign fashion, like ganglioneuroma. At present there are no data regarding the lifetime risk to an individual with a germline ALK pathogenic variant of developing a neuroblastic tumor. Preliminary data from the ten reported families with ALK-related neuroblastic tumor susceptibility suggest that the overall penetrance is around 57% with the risk for neuroblastic tumor development highest in infancy and decreasing by late childhood. [from GTR]

MedGen UID:
18012
Concept ID:
C0027819
Neoplastic Process
4.

Neuroblastoma

Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children. [from ORDO]

MedGen UID:
798120
Concept ID:
CN205405
Disease or Syndrome
5.

Neuroblastoma

Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum. [from HPO]

MedGen UID:
505432
Concept ID:
CN002717
Finding
6.

Viral Vector

A viral gene transduction agent used to transfer genes or genetic materials, such as retroviruses and adenoviruses. [from NCI]

MedGen UID:
274399
Concept ID:
C1520007
Pharmacologic Substance
7.

Retinitis pigmentosa

Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting 1 in 3,000 to 5,000 people (Veltel et al., 2008). Symptoms include night blindness, the development of tunnel vision, and slowly progressive decreased central vision starting at approximately 20 years of age. Upon examination, patients have decreased visual acuity, constricted visual fields, dyschromatopsia (tritanopic; see 190900), and the classic fundus appearance with dark pigmentary clumps in the midperiphery and perivenous areas ('bone spicules'), attenuated retinal vessels, cystoid macular edema, fine pigmented vitreous cells, and waxy optic disc pallor. RP is associated with posterior subcapsular cataracts in 39 to 72% of patients, high myopia, astigmatism, keratoconus, and mild hearing loss in 30% of patients (excluding patients with Usher syndrome; see 276900). Fifty percent of female carriers of X-linked RP have a golden reflex in the posterior pole (summary by Kaiser et al., 2004). Juvenile Retinitis Pigmentosa Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis (see 204000), whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). Autosomal recessive forms of juvenile retinitis pigmentosa can be caused by mutation in the SPATA7 (609868), LRAT (604863), and TULP1 (602280) genes (see LCA3, 604232, LCA14, 613341, and LCA15, 613843, respectively). An autosomal dominant form of juvenile retinitis pigmentosa (see 604393) is caused by mutation in the AIPL1 gene (604392). [from GTR]

MedGen UID:
20551
Concept ID:
C0035334
Disease or Syndrome
8.

Ganglioside

A subclass of ACIDIC GLYCOSPHINGOLIPIDS. They contain one or more sialic acid (N-ACETYLNEURAMINIC ACID) residues. Using the Svennerholm system of abbrevations, gangliosides are designated G for ganglioside, plus subscript M, D, or T for mono-, di-, or trisialo, respectively, the subscript letter being followed by a subscript arabic numeral to indicated sequence of migration in thin-layer chromatograms. (From Oxford Dictionary of Biochemistry and Molecular Biology, 1997) [from MeSH]

MedGen UID:
4832
Concept ID:
C0017082
Organic Chemical; Pharmacologic Substance
9.

Biosynthesis, Peptide

The production of PEPTIDES or PROTEINS by the constituents of a living organism. The biosynthesis of proteins on RIBOSOMES following an RNA template is termed translation (TRANSLATION, GENETIC). There are other, non-ribosomal peptide biosynthesis (PEPTIDE BIOSYNTHESIS, NUCLEIC ACID-INDEPENDENT) mechanisms carried out by PEPTIDE SYNTHASES and PEPTIDYLTRANSFERASES. Further modifications of peptide chains yield functional peptide and protein molecules. [from MeSH]

MedGen UID:
272130
Concept ID:
C1327133
Molecular Function
10.

Genetic translation

Protein synthesis is the group of processes that are involved in generation of mature protein molecules. Although protein synthesis may involve translation alone in many cases, in others, it involves also protein folding, integration of prosthetic groups, glycosylation, methylation, phosphorylation, lipidation and any other process that may be involved in maturation of the polypeptide to the biologically active form. [from NCI]

MedGen UID:
108933
Concept ID:
C0597295
Molecular Function
11.

Spinal Cord Glioma

A neoplasm that arises from glial cells in the spinal cord. Representative examples include astrocytoma, oligodendroglioma, and ependymoma. [from NCI]

MedGen UID:
423646
Concept ID:
C2937245
Neoplastic Process
12.

Recombinant Neurotrophic Factor

Recombinant form of endogenous neurotrophic factors, a family of polypeptide growth factors produced by peripheral target tissues as well as the nervous system. Neurotrophic factors are critical to neuronal growth, regeneration, survival, and differentiation. (NCI) [from NCI]

MedGen UID:
282718
Concept ID:
C1522444
Amino Acid, Peptide, or Protein; Pharmacologic Substance
13.

Spinal Cord Neuroblastoma

A neuroblastoma that affects the spinal cord. [from NCI]

MedGen UID:
234803
Concept ID:
C1336046
Neoplastic Process
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