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Results: 1 to 20 of 23

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.

Arginine

One of the twenty common amino acids (building blocks of proteins). Arginine is being studied as a nutritional supplement in the treatment and prevention of cancer and other conditions. [from NCI]

MedGen UID:
13907
Concept ID:
C0003765
Pharmacologic Substance
3.

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
4.

Glycine

A non-essential, non-polar, non-optical, glucogenic amino acid. Glycine, an inhibitory neurotransmitter in the CNS, triggers chloride ion influx via ionotropic receptors, thereby creating an inhibitory post-synaptic potential. In contrast, this agent also acts as a co-agonist, along with glutamate, facilitating an excitatory potential at the glutaminergic N-methyl-D-aspartic acid (NMDA) receptors. Glycine is an important component and precursor for many macromolecules in the cells. [from NCI]

MedGen UID:
6636
Concept ID:
C0017890
Pharmacologic Substance
5.

Intellectual disability

MedGen UID:
334384
Concept ID:
C1843367
Finding
6.

X-linked inheritance

MedGen UID:
66838
Concept ID:
C0241764
7.

Finding

The result of an examination or inquiry. [from NCI]

MedGen UID:
66215
Concept ID:
C0243095
Finding
8.

Clinical finding

clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. [from CRISP]

MedGen UID:
19974
Concept ID:
C0037088
Sign or Symptom
9.

Intellectual functioning disability

A developmental disorder characterized by less than average intelligence and significant limitations in adaptive behavior with onset before the age of 18. [from NCI]

MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
10.

Intellectual functioning disability

Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabiled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) [from MeSH]

MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
11.

X-linked hereditary disease

Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases. [from MeSH]

MedGen UID:
222910
Concept ID:
C1138434
Disease or Syndrome
12.

Mental deficiency

MedGen UID:
214593
Concept ID:
C0917816
Mental or Behavioral Dysfunction
13.

Mental Retardation, X-Linked

A class of genetic disorders resulting in INTELLECTUAL DISABILITY that is associated either with mutations of GENES located on the X CHROMOSOME or aberrations in the structure of the X chromosome (SEX CHROMOSOME ABERRATIONS). [from MeSH]

MedGen UID:
211749
Concept ID:
C1136249
Disease or Syndrome
14.

Inborn genetic diseases

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
15.

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
16.

Neurobehavioral Manifestations

Signs and symptoms of higher cortical dysfunction caused by organic conditions. These include certain behavioral alterations and impairments of skills involved in the acquisition, processing, and utilization of knowledge or information. [from MeSH]

MedGen UID:
105653
Concept ID:
C0525041
Sign or Symptom
17.

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
18.

Intellectual disability, profound

IQ below 20. [from PSY]

MedGen UID:
43816
Concept ID:
C0020796
Finding
19.

Neurologic Manifestations

Clinical signs and symptoms caused by nervous system injury or dysfunction. [from MeSH]

MedGen UID:
18017
Concept ID:
C0027854
Finding
20.

Disorder of nervous system

The brain, spinal cord, and nerves make up the nervous system. Together they control all the workings of the body. When something goes wrong with a part of your nervous system, you can have trouble moving, speaking, swallowing, breathing, or learning. You can also have problems with your memory, senses, or mood. There are more than 600 neurologic diseases. Major types include: - Diseases caused by faulty genes, such as Huntington's disease and muscular dystrophy. - Problems with the way the nervous system develops, such as spina bifida. - Degenerative diseases, where nerve cells are damaged or die, such as Parkinson's disease and Alzheimer's disease. - Diseases of the blood vessels that supply the brain, such as stroke. - Injuries to the spinal cord and brain. - Seizure disorders, such as epilepsy . - Cancer, such as brain tumors. - infections, such as meningitis.  [from MedlinePlus]

MedGen UID:
14336
Concept ID:
C0027765
Disease or Syndrome

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