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Items: 12

1.

Netherton syndrome

Netherton syndrome is a rare and severe autosomal recessive skin disorder characterized by congenital erythroderma, a specific hair-shaft abnormality, and atopic manifestations with high IgE levels. Generalized scaly erythroderma is apparent at or soon after birth and usually persists. Scalp hair is sparse and brittle with a characteristic 'bamboo' shape under light microscopic examination due to invagination of the distal part of the hair shaft to its proximal part. Atopic manifestations include eczema-like rashes, atopic dermatitis, pruritus, hay fever, angioedema, urticaria, high levels of IgE in the serum, and hypereosinophilia. Life-threatening complications are frequent during the neonatal period, including hypernatremic dehydration, hypothermia, extreme weight loss, bronchopneumonia, and sepsis. During childhood, failure to thrive is common as a result of malnutrition, metabolic disorders, chronic erythroderma, persistent cutaneous infections, or enteropathy (summary by Bitoun et al., 2002). [from GTR]

MedGen UID:
78578
Concept ID:
C0265962
Congenital Abnormality; Disease or Syndrome
2.

Serine

A non-essential amino acid in humans (synthesized by the body), Serine is present and functionally important in many proteins. With an alcohol group, serine is needed for the metabolism of fats, fatty acids, and cell membranes; muscle growth; and a healthy immune system. It also plays a major role in pyrimidine, purine, creatine, and porphyrin biosynthetic pathways. Serine is also found at the active site of the serine protease enzyme class that includes trypsin and chymotrypsin. (NCI04) [from NCI]

MedGen UID:
11382
Concept ID:
C0036720
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
3.

Serine proteinase inhibitor

A protein that plays a role in the inhibition of serine proteinases. [from NCI]

MedGen UID:
20708
Concept ID:
C0036733
Biologically Active Substance; Pharmacologic Substance
4.

Peptide hydrolase inhibitor

Any substance that inhibits a protease, an enzyme that breaks peptide bonds. Proteases are required for many cell processes and inhibition of proteases can inhibit viral replication, inflammatory responses, proliferation, and tumor growth. [from NCI]

MedGen UID:
18701
Concept ID:
C0033607
Pharmacologic Substance
5.

Syndrome

A characteristic symptom complex. [from MeSH]

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

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
7.

Idiopathic generalized epilepsy

Idiopathic generalized epilepsy is a broad term that encompasses several common seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA; see 600131), juvenile absence epilepsy (JAE, EJA; see 607631), juvenile myoclonic epilepsy (JME, EJM; see 254770), and epilepsy with grand mal seizures on awakening (Commission on Classification and Terminology of the International League Against Epilepsy, 1989). These recurrent seizures occur in the absence of detectable brain lesions and/or metabolic abnormalities. Seizures are initially generalized with a bilateral, synchronous, generalized, symmetrical EEG discharge (Zara et al., 1995; Lu and Wang, 2009). See also childhood absence epilepsy (ECA1; 600131), which has also been mapped to 8q24. Of note, benign neonatal epilepsy 2 (EBN2; 121201) is caused by mutation in the KCNQ3 gene (602232) on 8q24. Genetic Heterogeneity of Idiopathic Generalized Epilepsy EIG1 has been mapped to chromosome 8q24. Other loci or genes associated with EIG include EIG2 (606972) on 14q23; EIG3 (608762) on 9q32; EIG4 (609750) on 10q25; EIG5 (611934) on 10p11; EIG6 (611942), caused by mutation in the CACNA1H gene (607904) on 16p; EIG7 (604827) on 15q14; EIG8 (612899), caused by mutation in the CASR gene (601199) on 3q13.3-q21; EIG9 (607682), caused by mutation in the CACNB4 gene (601949) on 2q22-q23; EIG10 (613060), caused by mutation in the GABRD gene (137163) on 1p36.3; EIG11 (607628), caused by variation in the CLCN2 gene (600570) on 3q36; EIG12 (614847), caused by mutation in the SLC2A1 gene (138140) on 1p34; EIG13 (611136), caused by mutation in the GABRA1 gene (137160) on 5q34; and EIG14 (616685), caused by mutation in the SLC12A5 gene (606726) on 20q12. [from GTR]

MedGen UID:
75725
Concept ID:
C0270850
Disease or Syndrome
8.

Frameshift Mutation

A mutation occurring within the protein-coding region of a gene which results in a shift in the reading frame of the encoded protein. Frameshift mutations often result in the premature truncation of a gene product. [from NCI]

MedGen UID:
86908
Concept ID:
C0079380
Cell or Molecular Dysfunction
9.

Enzyme inhibitor

Compounds or agents that combine with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction. [from MeSH]

MedGen UID:
8652
Concept ID:
C0014432
Pharmacologic Substance
10.

Multiple congenital anomalies

Congenital abnormalities that affect more than one organ or body structure. [from MeSH]

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
11.

Disease

A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown. [from MeSH]

MedGen UID:
4347
Concept ID:
C0012634
Disease or Syndrome
12.

Developmental abnormality

Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. [from NCI]

MedGen UID:
1254
Concept ID:
C0000768
Congenital Abnormality
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