Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 9

1.

Atrophy

Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes. [from MeSH]

MedGen UID:
83084
Concept ID:
C0333641
Pathologic Function
2.

Skeletal muscle atrophy

The presence of skeletal muscular atrophy (which is also known as amyotrophy). [from HPO]

MedGen UID:
505481
Concept ID:
CN002890
Finding
3.

Neurodegeneration

Progressive loss of neural cells and tissue. [from HPO]

MedGen UID:
505144
Concept ID:
CN001976
Finding
4.

Growth delay

A deficiency or slowing down of growth pre- and postnatally. [from HPO]

MedGen UID:
500905
Concept ID:
CN001379
Finding
5.

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
6.

Infertility

Infertility means not being able to become pregnant after a year of trying. If a woman can get pregnant but keeps having miscarriages or stillbirths, that's also called infertility. Infertility is fairly common. After one year of having unprotected sex, about 15 percent of couples are unable to get pregnant. About a third of the time, infertility can be traced to the woman. In another third of cases, it is because of the man. The rest of the time, it is because of both partners or no cause can be found. There are treatments that are specifically for men or for women. Some involve both partners. Drugs, assisted reproductive technology, and surgery are common treatments. Happily, many couples treated for infertility go on to have babies. NIH: National Institute of Child Health and Human Development.  [from MedlinePlus]

MedGen UID:
43876
Concept ID:
C0021359
Finding; Pathologic Function
7.

Congenital ocular coloboma

Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of one or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014). Genetic Heterogeneity of Ocular Coloboma A recessive form of ocular coloboma (216820) is caused by mutation in the SALL2 gene (602219) on chromosome 14q11. [from OMIM]

MedGen UID:
1046
Concept ID:
C0009363
Congenital Abnormality
8.

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
9.

Male infertility

Infertility is a term doctors use if a man hasn't been able to get a woman pregnant after at least one year of trying. Causes of male infertility include. -Physical problems with the testicles. -Blockages in the ducts that carry sperm. -Hormone problems. -A history of high fevers or mumps. -Genetic disorders. -Lifestyle or environmental factors. About a third of the time, infertility is because of a problem with the man. One third of the time, it is a problem with the woman. Sometimes no cause can be found. If you suspect you are infertile, see your doctor. There are tests that may tell if you have fertility problems. When it is possible to find the cause, treatments may include medicines, surgery, or assisted reproductive technology. Happily, many couples treated for infertility are able to have babies. NIH: National Institute of Child Health and Human Development.  [from MedlinePlus]

MedGen UID:
5796
Concept ID:
C0021364
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...