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Results: 1 to 20 of 54

1.

pyridoxine

The 4-methanol form of VITAMIN B 6 which is converted to PYRIDOXAL PHOSPHATE which is a coenzyme for synthesis of amino acids, neurotransmitters (serotonin, norepinephrine), sphingolipids, aminolevulinic acid. Although pyridoxine and Vitamin B 6 are still frequently used as synonyms, especially by medical researchers, this practice is erroneous and sometimes misleading (EE Snell; Ann NY Acad Sci, vol 585 pg 1, 1990). [from MeSH]

MedGen UID:
19607
Concept ID:
C0034272
Pharmacologic Substance
2.

Error occurred: cannot get document summary

ID:
807319

3.

Seizure

MedGen UID:
506957
Concept ID:
CN178372
Disease or Syndrome
4.

Seizures

MedGen UID:
409523
Concept ID:
C1959629
Finding
5.

Ehlers-Danlos syndrome progeroid type

The features of the progeroid form of Ehlers-Danlos syndrome include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999). Genetic Heterogeneity of the Progeroid Type of Ehlers-Danlos Syndrome See EDSP2 (615349), caused by mutation in the B3GALT6 gene (615349). [from OMIM]

MedGen UID:
358390
Concept ID:
C1869122
Disease or Syndrome
6.

Pigment dispersion syndrome

MedGen UID:
220866
Concept ID:
C1271398
Disease or Syndrome
7.

Pendred's syndrome

Pendred syndrome (PDS) and DFNB4 comprise a phenotypic spectrum of hearing loss with or without other findings. Pendred syndrome is characterized by: severe-to-profound bilateral sensorineural hearing impairment that is usually congenital (or prelingual) and non-progressive; vestibular dysfunction; temporal bone abnormalities; and development of euthyroid goiter in late childhood to early adulthood. Variability of findings is considerable, even within the same family. DFNB4 is characterized by nonsyndromic sensorineural hearing impairment, vestibular dysfunction, and enlarged vestibular aqueduct (EVA). Thyroid defects are not seen in DFNB4. [from GeneReviews]

MedGen UID:
82890
Concept ID:
C0271829
Disease or Syndrome
8.

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
9.

Anticonvulsants

agent used to prevent seizures or reduce their severity. [from CRISP]

MedGen UID:
1972
Concept ID:
C0003286
Pharmacologic Substance
10.

Infantile spasms

MedGen UID:
807615
Concept ID:
CN220161
Finding
11.

Detected

MedGen UID:
617726
Concept ID:
C0442726
Finding
12.

Has "spasms"

MedGen UID:
605397
Concept ID:
C0427091
Finding
13.

Neonatal onset

MedGen UID:
344421
Concept ID:
C1855106
Finding
14.

Rare Diseases

A rare disease is one that affects fewer than 200,000 people in the United States. There are nearly 7,000 rare diseases. More than 25 million Americans have one. Rare diseases: -May involve chronic illness, disability, and often premature death. -Often have no treatment or not very effective treatment. -Are frequently not diagnosed correctly. -Are often very complex. -Are often caused by changes in genes. It can be hard to find a specialist who knows how to treat your rare disease. Disease advocacy groups, rare disease organizations, and genetics clinics may help you to find one. NIH: National Institutes of Health.  [from MedlinePlus]

MedGen UID:
146261
Concept ID:
C0678236
Disease or Syndrome
15.

Functional disorder

Deranged function in an individual or an organ that is due to a disease. (MedicineNet.com) [from NCI]

MedGen UID:
124450
Concept ID:
C0277785
Pathologic Function
16.

Onset

The start, beginning, or early stages. [from NCI]

MedGen UID:
87142
Concept ID:
C0332162
17.

Vitamin B6

VITAMIN B 6 refers to several PICOLINES (especially PYRIDOXINE; PYRIDOXAL; & PYRIDOXAMINE) that are efficiently converted by the body to PYRIDOXAL PHOSPHATE which is a coenzyme for synthesis of amino acids, neurotransmitters (serotonin, norepinephrine), sphingolipids, and aminolevulinic acid. During transamination of amino acids, pyridoxal phosphate is transiently converted into PYRIDOXAMINE phosphate. Although pyridoxine and Vitamin B 6 are still frequently used as synonyms, especially by medical researchers, this practice is erroneous and sometimes misleading (EE Snell; Ann NY Acad Sci, vol 585 pg 1, 1990). Most of vitamin B6 is eventually degraded to PYRIDOXIC ACID and excreted in the urine. [from MeSH]

MedGen UID:
39559
Concept ID:
C0087162
Pharmacologic Substance
18.

Vitamins

Vitamins are substances that your body needs to grow and develop normally. There are 13 vitamins your body needs. They are vitamins A, C, D, E, K and the B vitamins (thiamine, riboflavin, niacin, pantothenic acid, biotin, vitamin B-6, vitamin B-12 and folate). You can usually get all your vitamins from the foods you eat. Your body can also make vitamins D and K. People who eat a vegetarian diet may need to take a vitamin B12 supplement. . Each vitamin has specific jobs. If you have low levels of certain vitamins, you may develop a deficiency disease. For example, if you don't get enough vitamin D, you could develop rickets. Some vitamins may help prevent medical problems. Vitamin A prevents night blindness. The best way to get enough vitamins is to eat a balanced diet with a variety of foods. In some cases, you may need to take a daily multivitamin for optimal health. However, high doses of some vitamins can make you sick.  [from MedlinePlus]

MedGen UID:
12117
Concept ID:
C0042890
Pharmacologic Substance
19.

West syndrome

X-linked infantile spasm syndrome is a seizure disorder characterized by a type of seizure known as infantile spasms. The spasms usually appear before the age of 1. Several types of spasms have been described, but the most commonly reported involves bending at the waist and neck with extension of the arms and legs (sometimes called a jackknife spasm). Each spasm lasts only seconds, but they occur in clusters several minutes long. Although individuals are not usually affected while they are sleeping, the spasms commonly occur just after awakening. Infantile spasms usually disappear by age 5, but many children then develop other types of seizures that recur throughout their lives. Most babies with X-linked infantile spasm syndrome have characteristic results on an electroencephalogram (EEG), a test used to measure the electrical activity of the brain. The EEG of these individuals typically shows an irregular pattern known as hypsarrhythmia, and this finding can help differentiate infantile spasms from other types of seizures. Because of the recurrent seizures, babies with X-linked infantile spasm syndrome stop developing normally and begin to lose skills they have acquired (developmental regression), such as sitting, rolling over, and babbling. Subsequently, development in affected children is delayed. Most affected individuals also have intellectual disability throughout their lives.
[from GHR]

MedGen UID:
11519
Concept ID:
C0037769
Finding
20.

Neurobion

MedGen UID:
811426
Concept ID:
C3714646
Pharmacologic Substance

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