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Items: 1 to 20 of 27

1.

Phenylalanine

An essential aromatic amino acid in humans (provided by food), Phenylalanine plays a key role in the biosynthesis of other amino acids and is important in the structure and function of many proteins and enzymes. Phenylalanine is converted to tyrosine, used in the biosynthesis of dopamine and norepinephrine neurotransmitters. The L-form of Phenylalanine is incorporated into proteins, while the D-form acts as a painkiller. Absorption of ultraviolet radiation by Phenylalanine is used to quantify protein amounts. (NCI04) [from NCI]

MedGen UID:
10708
Concept ID:
C0031453
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
2.

Reduced phenylalanine hydroxylase activity

A reduction in phenylalanine 4-monooxygenase activity. [from HPO]

MedGen UID:
199655
Concept ID:
C0751434
Disease or Syndrome
3.

Phenylketonuria

Phenylalanine hydroxylase (PAH) deficiency results in intolerance to the dietary intake of the essential amino acid phenylalanine and produces a spectrum of disorders. The risk of adverse outcome varies based on the degree of PAH deficiency. Without effective therapy, most individuals with severe PAH deficiency, known as classic PKU, develop profound and irreversible intellectual disability. Affected individuals on an unrestricted diet who have phenylalanine levels above normal but below 1200 µmol/L (20 mg/dL) are at much lower risk for impaired cognitive development in the absence of treatment. [from GeneReviews]

MedGen UID:
19244
Concept ID:
C0031485
Disease or Syndrome
4.

enzyme activity

Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. [ISBN:0198506732] [from GO]

MedGen UID:
66218
Concept ID:
C0243102
Molecular Function
5.

protein folding

Processes involved in the formation of TERTIARY PROTEIN STRUCTURE. [from MeSH]

MedGen UID:
58195
Concept ID:
C0162847
Molecular Function
6.

Chromosomal translocation

Any type of genetic recombination involving exchange of DNA between non-homologous chromosomes, which often occurs as the result of non-homologous end-joining of broken DNA strands. Chromosomal translocation is involved in repairing broken DNA and in maintaining cell viability at the expense of long term genomic stability. This process is is associated with particular types of leukemia, infertility and Down Syndrome. [from NCI]

MedGen UID:
21243
Concept ID:
C0040715
Cell or Molecular Dysfunction
7.

Hyperphenylalaninemia

An increased concentration of L-phenylalanine in the blood. [from HPO]

MedGen UID:
505720
Concept ID:
CN004366
Finding
8.

Pulmonary arterial hypertension

Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. [from HPO]

MedGen UID:
468368
Concept ID:
C3203102
Disease or Syndrome
9.

Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

MedGen UID:
199656
Concept ID:
C0751436
Disease or Syndrome
10.

Hyperphenylalaninemia, non-pku

An increased concentration of L-phenylalanine in the blood. [from HPO]

MedGen UID:
155558
Concept ID:
C0751435
Disease or Syndrome
11.

Severity

The intensity or degree of a manifestation. [from HPO]

MedGen UID:
101096
Concept ID:
C0522510
Qualitative Concept
12.

Primary pulmonary hypertension

Pulmonary arterial hypertension (PAH) is characterized by widespread obstruction and obliteration of the smallest pulmonary arteries. When a sufficient number of vessels are occluded, the resistance to blood flow through the lungs increases, and the right ventricle attempts to compensate by generating higher pressure to maintain pulmonary blood flow. When the right ventricle can no longer compensate for the increased resistance, progressive heart failure ensues. Initial symptoms include dyspnea (60%), fatigue (19%), syncope (8%), chest pain (7%), palpitations (5%), and leg edema (3%). All ages are affected, but the mean age at diagnosis is 36 years. Mean survival after diagnosis is 2.8 years; current therapy does improve clinical function but has modest effect on survival. The term heritable PAH (HPAH) includes familial PAH (PAH that occurs in two or more family members) and simplex PAH (i.e., a single occurrence in a family) when a pathogenic variant has been identified. Most heritable PAH (75%) is caused by a pathogenic variant in BMPR2; pathogenic variants in other genes (i.e., ACVRL1, KCNK3, CAV1, SMAD9, BMPR1B,) are considerably less common (1-3%). HPAH has identical symptoms, signs, and histology as PAH of unknown cause. The time from onset of symptoms to diagnosis may be shorter in individuals with familial PAH, possibly because of familial awareness of the disease. Three retrospective studies suggest that persons with PAH who have a BMPR2 pathogenic variant exhibit more severe disease. [from GeneReviews]

MedGen UID:
57749
Concept ID:
C0152171
Disease or Syndrome
13.

Amino acid

One of several molecules that join together to form proteins. There are 20 common amino acids found in proteins. [from NCI]

MedGen UID:
250
Concept ID:
C0002520
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
14.

Peptide Biosynthesis

The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide. [CHEBI:16670, GOC:dph, GOC:jl] [from GO]

MedGen UID:
272130
Concept ID:
C1327133
Molecular Function
15.

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
16.

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
17.

Genetic translation

ribosome mediated process by which polypeptide chains are synthesized, the aminoacid sequence being completely determined by the sequence of bases in a messenger RNA, which in turn is determined by the sequences of bases in the DNA of the gene from which it was transcribed. [from CRISP]

MedGen UID:
108933
Concept ID:
C0597295
Molecular Function
18.

Metabolic disease

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat. A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. There are different groups of disorders. Some affect the breakdown of amino acids, carbohydrates, or lipids. Another group, mitochondrial diseases, affects the parts of the cells that produce the energy. You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example. .  [from MedlinePlus]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
19.

Unspecified encephalopathy

Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. [from HPO]

MedGen UID:
39314
Concept ID:
C0085584
Disease or Syndrome
20.

Disorder of brain

The brain is the control center of the body. It controls thoughts, memory, speech, and movement. It regulates the function of many organs. When the brain is healthy, it works quickly and automatically. However, when problems occur, the results can be devastating. . Inflammation in the brain can lead to problems such as vision loss, weakness and paralysis. Loss of brain cells, which happens if you suffer a stroke, can affect your ability to think clearly. Brain tumors can also press on nerves and affect brain function. Some brain diseases are genetic. And we do not know what causes some brain diseases, such as Alzheimer's disease. The symptoms of brain diseases vary widely depending on the specific problem. In some cases, damage is permanent. In other cases, treatments such as surgery, medicines, or physical therapy can correct the source of the problem or improve symptoms. .  [from MedlinePlus]

MedGen UID:
14214
Concept ID:
C0006111
Disease or Syndrome
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