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Items: 1 to 20 of 31

1.

Renal carnitine transport defect

Systemic primary carnitine deficiency (CDSP) is a disorder of the carnitine cycle that results in defective fatty acid oxidation. It encompasses a broad clinical spectrum including: Metabolic decompensation in infancy typically presenting between age three months and two years with episodes of hypoketotic hypoglycemia, poor feeding, irritability, lethargy, hepatomegaly, elevated liver transaminases, and hyperammonemia triggered by fasting or common illnesses such as upper respiratory tract infection or gastroenteritis; Childhood myopathy involving heart and skeletal muscle with onset between age two and four years; Pregnancy-related decreased stamina or exacerbation of cardiac arrhythmia; Fatigability in adulthood; Absence of symptoms. The latter two categories often include mothers diagnosed with CDSP after newborn screening has identified low carnitine levels in their infants. [from GTR]

MedGen UID:
90999
Concept ID:
C0342788
Disease or Syndrome
2.

Carnitine

A constituent of STRIATED MUSCLE and LIVER. It is an amino acid derivative and an essential cofactor for fatty acid metabolism. [from MeSH]

MedGen UID:
40117
Concept ID:
C0007258
Amino Acid, Peptide, or Protein; Pharmacologic Substance
3.

Decreased plasma carnitine

A decreased concentration of carnitine in the blood. [from HPO]

MedGen UID:
222973
Concept ID:
C1142132
Finding; Finding
4.

Infant death

The death of a live-born INFANT within its first year of life. [from MeSH]

MedGen UID:
639821
Concept ID:
C0549159
Finding
5.

SUDDEN INFANT DEATH SYNDROME

Sudden infant death syndrome (SIDS) is a diagnosis of exclusion which should be made only after a thorough autopsy without identification of a specific cause of death (Mage and Donner, 2004). Weese-Mayer et al. (2007) provided a detailed review of genetic factors that have been implicated in SIDS. The authors concluded that SIDS represents more than 1 entity and has a heterogeneous etiology most likely involving several different genetically controlled metabolic pathways. [from GTR]

MedGen UID:
52548
Concept ID:
C0038644
Disease or Syndrome
6.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
7.

Autosomal Recessive Disorder

An inherited disorder manifested only when two copies of a mutated gene are present. [from NCI]

MedGen UID:
859582
Concept ID:
C3899988
Disease or Syndrome
8.

progressive

MedGen UID:
851455
Concept ID:
CN232553
Finding
9.

Skeletal myopathy

MedGen UID:
735900
Concept ID:
C1533847
Disease or Syndrome
10.

Sudden infant death

MedGen UID:
603675
Concept ID:
C0425045
Finding
11.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
12.

Myopathy

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. [from HPO]

MedGen UID:
505479
Concept ID:
CN002886
Finding
13.

Cardiomyopathy

A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. [from HPO]

MedGen UID:
504883
Concept ID:
CN001491
Finding
14.

Hepatic steatosis

Inflammation of the liver related to lipid accumulation in fatty liver. [from MeSH]

MedGen UID:
398225
Concept ID:
C2711227
Disease or Syndrome
15.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
16.

Cardiomyopathy

A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. [from NCI]

MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
17.

Autosomal recessive inheritance

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [from HPO]

MedGen UID:
141025
Concept ID:
C0441748
Genetic Function; Intellectual Product
18.

Schnyder crystalline corneal dystrophy

Schnyder corneal dystrophy (SCCD), also known as Schnyder crystalline corneal dystrophy, is an autosomal dominant eye disease characterized by abnormal deposition of cholesterol and phospholipids in the cornea. The consequent corneal opacification is progressive and bilateral, resulting in glare and loss of vision that is postulated to be caused by light scattering. Patients demonstrate a characteristic pattern of corneal opacification dependent on age, and only half have crystalline corneal cholesterol deposits. Patients with noncrystalline disease have a more subtle presentation with only corneal haze, which may be difficult to diagnose (summary by Nickerson et al., 2013). [from GTR]

MedGen UID:
124391
Concept ID:
C0271287
Disease or Syndrome
19.

Hyperammonaemia

A laboratory test result demonstrating an increased concentration of ammonia in the blood. [from NCI]

MedGen UID:
113136
Concept ID:
C0220994
Disease or Syndrome
20.

Visceral steatosis

MedGen UID:
90962
Concept ID:
C0341447
Pathologic Function
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