Format
Items per page

Send to:

Choose Destination

MedGen for PubMed (Select 20818730)

Items: 6

1.

Mitochondrial diseases

Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. They can be caused by mutation of genes encoded by either nuclear DNA or mitochondrial DNA (mtDNA). While some mitochondrial disorders only affect a single organ (e.g., the eye in Leber hereditary optic neuropathy [LHON]), many involve multiple organ systems and often present with prominent neurologic and myopathic features. Mitochondrial disorders may present at any age. Many individuals with a mutation of mtDNA display a cluster of clinical features that fall into a discrete clinical syndrome, such as the Kearns-Sayre syndrome (KSS), chronic progressive external ophthalmoplegia (CPEO), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged-red fibers (MERRF), neurogenic weakness with ataxia and retinitis pigmentosa (NARP), or Leigh syndrome (LS). However, considerable clinical variability exists and many individuals do not fit neatly into one particular category, which is well-illustrated by the overlapping spectrum of disease phenotypes (including mitochondrial recessive ataxia syndrome (MIRAS) resulting from mutation of the nuclear gene POLG, which has emerged as a major cause of mitochondrial disease. Common clinical features of mitochondrial disease – whether involving a mitochondrial or nuclear gene – include ptosis, external ophthalmoplegia, proximal myopathy and exercise intolerance, cardiomyopathy, sensorineural deafness, optic atrophy, pigmentary retinopathy, and diabetes mellitus. Common central nervous system findings are fluctuating encephalopathy, seizures, dementia, migraine, stroke-like episodes, ataxia, and spasticity. A high incidence of mid- and late pregnancy loss is a common occurrence that often goes unrecognized. [from GeneReviews]

MedGen UID:
155901
Concept ID:
C0751651
Disease or Syndrome
2.

Multiple fibrofolliculomas

The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, trichodiscomas/angiofibromas, perifollicular fibromas, and acrochordons), pulmonary cysts/history of pneumothorax, and various types of renal tumors. Disease severity can vary significantly even within the same family. Skin lesions typically appear during the third and fourth decades of life and typically increase in size and number with age. Lung cysts are mostly bilateral and multifocal; most individuals are asymptomatic but at high risk for spontaneous pneumothorax. Individuals with BHDS are at a sevenfold increased risk for renal tumors that are typically bilateral and multifocal and usually slow growing; median age of tumor diagnosis is 48 years. The most common renal tumors are a hybrid of oncocytoma and chromophobe histologic cell types (so-called oncocytic hybrid tumor) and chromophobe histologic cell types. Some families have renal tumor and/or autosomal dominant spontaneous pneumothorax without cutaneous manifestations. [from GeneReviews]

MedGen UID:
91070
Concept ID:
C0346010
Disease or Syndrome
3.

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. . 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
4.

Developmental disorder

Developmental disabilities are severe, long-term problems. They may be physical, such as blindness. They may affect mental ability, such as learning disorders. Or the problem can be both physical and mental, such as Down syndrome. The problems are usually life-long, and can affect everyday living. . There are many causes of developmental disabilities, including. -Genetic or chromosome abnormalities. These cause conditions such as Down syndrome and Rett syndrome. -Prenatal exposure to substances. Drinking alcohol when pregnant can cause fetal alcohol spectrum disorders. -Certain viral infections during pregnancy. -Preterm birth. Often there is no cure, but treatment can help the symptoms. Treatments include physical, speech, and occupational therapy. Special education classes and psychological counseling can also help. NIH: National Institute of Child Health and Human Development.  [from MedlinePlus]

MedGen UID:
3367
Concept ID:
C0008073
Mental or Behavioral Dysfunction
5.

Mitochondrial DNA depletion syndrome 2

TK2-related mitochondrial DNA (mtDNA) depletion syndrome is a phenotypic continuum that ranges from severe to mild. To date, approximately 45 individuals with a molecularly confirmed diagnosis have been reported. The most typical presentation, which occurs in infants and children, is progressive muscle disease characterized by generalized hypotonia, proximal muscle weakness, loss of previously acquired motor skills, poor feeding, and respiratory difficulties leading to respiratory failure and death within a few years after diagnosis. Other severe presentations include: Rapidly progressive proximal muscle weakness in newborns with encephalopathy, epilepsy, and early death; A spinal muscular atrophy-like presentation; Progressive myopathy with dystrophic changes (including sensorineural hearing loss); Hepatomegaly with elevated liver enzymes associated with the severe early-onset myopathy. Milder presentations include: Late-onset proximal muscle weakness and prolonged survival; Adult-onset forms with progressive mitochondrial myopathy; Chronic progressive external ophthalmoplegia with proximal muscle weakness associated with multiple mtDNA deletions and no mtDNA depletion. [from GeneReviews]

MedGen UID:
461100
Concept ID:
C3149750
Disease or Syndrome
6.

Mitochondrial complex II deficiency

Complex II, also known as succinate dehydrogenase (EC 1.3.5.1), is part of the mitochondrial respiratory chain. Deficiency of complex II is characterized by highly variable phenotypic expression. [from OMIM]

MedGen UID:
344401
Concept ID:
C1855008
Disease or Syndrome
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...