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Results: 11

1.

Sandhoff disease

Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (272800). [from OMIM]

MedGen UID:
11313
Concept ID:
C0036161
Disease or Syndrome
2.

Frameshift Mutation function

A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously. [from MeSH]

MedGen UID:
86908
Concept ID:
C0079380
Cell or Molecular Dysfunction
3.

Nonsense-Mediated Decay

MedGen UID:
276589
Concept ID:
C1518412
Molecular Function
4.

Unrelated

Not connected or associated e.g. by kinship. [from NCI]

MedGen UID:
99027
Concept ID:
C0445356
Finding
5.

Endoglycosidases

MedGen UID:
760845
Concept ID:
C3537242
Pharmacologic Substance
6.

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
7.

Brain Diseases, Metabolic, Inborn

Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero. [from MeSH]

MedGen UID:
156005
Concept ID:
C0752109
Disease or Syndrome
8.

Lysosomal Storage Diseases, Nervous System

A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. The conditions are marked by an abnormal accumulation of catabolic material within lysosomes. [from MeSH]

MedGen UID:
148380
Concept ID:
C0751738
Disease or Syndrome
9.

Gangliosidoses, GM2

A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS. [from MeSH]

MedGen UID:
78656
Concept ID:
C0268274
Disease or Syndrome
10.

Disorder of lysosomal enzyme

Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates. [from MeSH]

MedGen UID:
43098
Concept ID:
C0085078
Disease or Syndrome
11.

Metabolic encephalopathy

Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function. [from MeSH]

MedGen UID:
647
Concept ID:
C0006112
Disease or Syndrome

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