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Results: 1 to 20 of 40

1.

Rett's disorder

MECP2-related disorders in females include classic Rett syndrome, variant Rett syndrome, and mild learning disabilities. A MECP2 mutation in a male is presumed to most often be lethal; phenotypes in rare surviving males are primarily severe neonatal encephalopathy and manic-depressive psychosis, pyramidal signs, Parkinsonian, and macro-orchidism (PPM-X syndrome). Classic Rett syndrome, a progressive neurodevelopmental disorder primarily affecting girls, is characterized by apparently normal psychomotor development during the first six to 18 months of life, followed by a short period of developmental stagnation, then rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use. Additional findings include fits of screaming and inconsolable crying, autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, seizures, and acquired microcephaly. Atypical Rett syndrome is observed increasingly as MECP2 mutations are identified in individuals previously diagnosed with: clinically suspected but molecularly unconfirmed Angelman syndrome; intellectual disability with spasticity or tremor; mild learning disability; or (rarely) autism. Severe neonatal encephalopathy resulting in death before age two years is the most common phenotype observed in affected males. [from GeneReviews]

MedGen UID:
48441
Concept ID:
C0035372
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.

Microcephalus

A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.) [from MeSH]

MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality
4.

Seizure

Seizures are symptoms of a brain problem. They happen because of sudden, abnormal electrical activity in the brain. When people think of seizures, they often think of convulsions in which a person's body shakes rapidly and uncontrollably. Not all seizures cause convulsions. There are many types of seizures and some have mild symptoms. Seizures fall into two main groups. Focal seizures, also called partial seizures, happen in just one part of the brain. Generalized seizures are a result of abnormal activity on both sides of the brain. . Most seizures last from 30 seconds to 2 minutes and do not cause lasting harm. However, it is a medical emergency if seizures last longer than 5 minutes or if a person has many seizures and does not wake up between them. Seizures can have many causes, including medicines, high fevers, head injuries and certain diseases. People who have recurring seizures due to a brain disorder have epilepsy. . NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
5.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

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

Female

A person who belongs to the sex that normally produces ova. The term is used to indicate biological sex distinctions, or cultural gender role distinctions, or both. (NCI) [from NCI_CDISC]

MedGen UID:
8807
Concept ID:
C0015780
Finding
7.

Acetylation

A chemical reaction in which a small molecule called an acetyl group is added to other molecules. Acetylation of proteins may affect how they act in the body. [from NCI]

MedGen UID:
7840
Concept ID:
C0001038
Molecular Function
8.

Male gender

A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both. (NCI) [from NCI]

MedGen UID:
7446
Concept ID:
C0024554
Finding
9.

Lysine

an essential amino acid [from CHV]

MedGen UID:
7421
Concept ID:
C0024337
Pharmacologic Substance
10.

Error occurred: cannot get document summary

ID:
807319

11.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
12.

Sporadic disorder

MedGen UID:
548249
Concept ID:
C0277552
Disease or Syndrome
13.

Nonsyndromic microcephaly

MedGen UID:
419828
Concept ID:
C2931527
Disease or Syndrome
14.

Seizures

MedGen UID:
409523
Concept ID:
C1959629
Finding
15.

Microcephaly

MedGen UID:
337454
Concept ID:
C1845868
Finding
16.

Developmental regression

MedGen UID:
324613
Concept ID:
C1836830
Finding
17.

Deacetylation

Deacetylation is the covalent chemical or post-translational biochemical addition of an acetyl group(s) to a peptide or protein. (NCI) [from NCI]

MedGen UID:
268332
Concept ID:
C1511737
Molecular Function
18.

Histone Acetylation

Histone Acetylation involves covalent linkage of acetyl groups to highly basic histone proteins associated with DNA, particularly in active chromatin, and may be involved in regulation of gene expression. [from NCI]

MedGen UID:
257867
Concept ID:
C1156200
Molecular Function
19.

Histone Deacetylation

Histone Deacetylation is the covalent post-translational enzymatic addition of an acetyl group(s) to a histone protein. By exposing cationic sites on the protein that promote ionic interaction with the negatively charged DNA backbone, Histone Deacetylation induces DNA condensation and regulates genetic functions, such as transcription. (NCI) [from NCI]

MedGen UID:
218874
Concept ID:
C1156201
Molecular Function
20.

Pathogenesis

specific processes that generate the ability of an organism to cause disease [from CHV]

MedGen UID:
195936
Concept ID:
C0699748
Pathologic Function

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