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Items: 17

1.

Meckel syndrome type 1

Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel Syndrome See also MKS2 (603194), caused by mutation in the TMEM216 gene (613277) on chromosome 11q13; MKS3 (607361), caused by mutation in the TMEM67 gene (609884) on chromosome 8q; MKS4 (611134), caused by mutation in the CEP290 gene (610142) on chromosome 12q; MKS5 (611561), caused by mutation in the RPGRIP1L gene (610937) on chromosome 16q12.2; MKS6 (612284), caused by mutation in the CC2D2A gene (612013) on chromosome 4p15; MKS7 (267010), caused by mutation in the NPHP3 (608002) gene on chromosome 3q22; MKS8 (613885), caused by mutation in the TCTN2 gene (613846) on chromosome 12q24.31; MKS9 (614209), caused by mutation in the B9D1 gene (614144) on chromosome 17p11.2; MKS10 (614175), caused by mutation in the B9D2 gene (611951) on chromosome 19q13; MKS11 (615397), caused by mutation in the TMEM231 gene (614949) on chromosome 16q23; and MKS12 (616258), caused by mutation in the KIF14 gene (611279) on chromosome 1q31. [from OMIM]

MedGen UID:
811346
Concept ID:
C3714506
Disease or Syndrome
2.

Meckel-Gruber syndrome

A rare, lethal, autosomal recessive inherited syndrome characterized by pulmonary hypoplasia, central nervous system malformations, and hepatic malformations. [from NCI]

MedGen UID:
120513
Concept ID:
C0265215
Congenital Abnormality; Disease or Syndrome
3.

Mitogens

A soluble substance, usually a protein, that induces mitosis in resting cells, thereby causing cell proliferation. [from NCI]

MedGen UID:
7665
Concept ID:
C0026249
Pharmacologic Substance
4.

Salicylate

o-hydroxybenzoate. [from CRISP]

MedGen UID:
508105
Concept ID:
C0036075
Organic Chemical; Pharmacologic Substance
5.

Mutant

An altered form of an individual, organism, population, or genetic character that differs from the corresponding wild type due to one or more alterations (mutations). [from NCI]

MedGen UID:
109303
Concept ID:
C0596988
Cell or Molecular Dysfunction
6.

Stress

Everyone feels stressed from time to time. Not all stress is bad. All animals have a stress response, and it can be life-saving. But chronic stress can cause both physical and mental harm. There are at least three different types of stress:. -Routine stress related to the pressures of work, family, and other daily responsibilities. -Stress brought about by a sudden negative change, such as losing a job, divorce, or illness. -Traumatic stress, which happens when you are in danger of being seriously hurt or killed. Examples include a major accident, war, assault, or a natural disaster. This type of stress can cause post-traumatic stress disorder (PTSD). Different people may feel stress in different ways. Some people experience digestive symptoms. Others may have headaches, sleeplessness, depressed mood, anger, and irritability. People under chronic stress get more frequent and severe viral infections, such as the flu or common cold. Vaccines, such as the flu shot, are less effective for them. Some people cope with stress more effectively than others. It's important to know your limits when it comes to stress, so you can avoid more serious health effects. NIH: National Institute of Mental Health.  [from MedlinePlus]

MedGen UID:
20971
Concept ID:
C0038435
Finding
7.

Metabolic Networks and Pathways

Complex sets of enzymatic reactions connected to each other via their product and substrate metabolites. [from MeSH]

MedGen UID:
328456
Concept ID:
C1721099
Molecular Function
8.

Growth substance

Signal molecules that are involved in the control of cell growth and differentiation. [from MeSH]

MedGen UID:
315661
Concept ID:
C1812630
Biologically Active Substance; Pharmacologic Substance
9.

MAP Kinase Signaling System

An intracellular signaling system involving the MAP kinase cascades (three-membered protein kinase cascades). Various upstream activators, which act in response to extracellular stimuli, trigger the cascades by activating the first member of a cascade, MAP KINASE KINASE KINASES; (MAPKKKs). Activated MAPKKKs phosphorylate MITOGEN-ACTIVATED PROTEIN KINASE KINASES which in turn phosphorylate the MITOGEN-ACTIVATED PROTEIN KINASES; (MAPKs). The MAPKs then act on various downstream targets to affect gene expression. In mammals, there are several distinct MAP kinase pathways including the ERK (extracellular signal-regulated kinase) pathway, the SAPK/JNK (stress-activated protein kinase/c-jun kinase) pathway, and the p38 kinase pathway. There is some sharing of components among the pathways depending on which stimulus originates activation of the cascade. [from MeSH]

MedGen UID:
155748
Concept ID:
C0752321
Molecular Function
10.

Mutagenesis Process

OBSOLETE. The process by which genetic material undergoes a detectable and heritable structural change. There are three categories of mutation: genome mutations, involving addition or subtraction of one or more whole chromosomes; chromosome mutations, which alter the structure of chromosomes; and gene mutations, where the structure of a gene is altered at the molecular level. [ISBN:0198506732] [from GO]

MedGen UID:
86969
Concept ID:
C0079866
Molecular Function
11.

phenol

An antiseptic and disinfectant aromatic alcohol. [from MeSH]

MedGen UID:
74524
Concept ID:
C0070570
Organic Chemical; Pharmacologic Substance
12.

Benzoate

MedGen UID:
67406
Concept ID:
C0220795
Organic Chemical; Pharmacologic Substance
13.

Phenol and derivatives

any organic compound containing one or more hydroxyl groups attached to a benzene ring. [from CRISP]

MedGen UID:
45854
Concept ID:
C0031428
Organic Chemical; Pharmacologic Substance
14.

Salicylic Acid

A compound obtained from the bark of the white willow and wintergreen leaves. It has bacteriostatic, fungicidal, and keratolytic actions. [from MeSH]

MedGen UID:
20638
Concept ID:
C0036079
Organic Chemical; Pharmacologic Substance
15.

Salicylate product

The salts, esters of salicylic acids, or salicylate esters of an organic acid. Some of these have analgesic, antipyretic, and anti-inflammatory activities by inhibiting prostaglandin synthesis. [from MeSH]

MedGen UID:
19862
Concept ID:
C0036077
Organic Chemical; Pharmacologic Substance
16.

Plant Diseases

Diseases of plants. [from MeSH]

MedGen UID:
18499
Concept ID:
C0032080
Disease or Syndrome
17.

Ethylene

MedGen UID:
4578
Concept ID:
C0015075
Organic Chemical; Pharmacologic Substance
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