Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 13

1.

Nance-Horan syndrome

Nance-Horan syndrome is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation (summary by Burdon et al., 2003). [from OMIM]

MedGen UID:
208665
Concept ID:
C0796085
Congenital Abnormality; Disease or Syndrome
2.

Cataract

A cataract is a clouding of the lens in your eye. It affects your vision. Cataracts are very common in older people. By age 80, more than half of all Americans either have a cataract or have had cataract surgery. A cataract can occur in either or both eyes. It cannot spread from one eye to the other. Common symptoms are. -Blurry vision. -Colors that seem faded. -Glare - headlights, lamps or sunlight may seem too bright. You may also see a halo around lights. -Not being able to see well at night. -Double vision . -Frequent prescription changes in your eye wear . Cataracts usually develop slowly. New glasses, brighter lighting, anti-glare sunglasses or magnifying lenses can help at first. Surgery is also an option. It involves removing the cloudy lens and replacing it with an artificial lens. Wearing sunglasses and a hat with a brim to block ultraviolet sunlight may help to delay cataracts. NIH: National Eye Institute.  [from MedlinePlus]

MedGen UID:
39462
Concept ID:
C0086543
Acquired Abnormality; Finding; Finding
3.

Cataract 40

Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
[from GHR]

MedGen UID:
442883
Concept ID:
C2752078
Congenital Abnormality; Disease or Syndrome
4.

Cataract

MedGen UID:
368085
Concept ID:
C1962983
Finding; Pathologic Function
5.

Congenital cataract

MedGen UID:
330823
Concept ID:
C1842324
Finding
6.

Neonatal hemochromatosis

Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988). Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.' In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001). [from OMIM]

MedGen UID:
82768
Concept ID:
C0268059
Disease or Syndrome
7.

Cataract, congenital

A congenital cataract. [from HPO]

MedGen UID:
3202
Concept ID:
C0009691
Congenital Abnormality
8.

Cataract 20, multiple types

Mutation in the CRYGS gene has been identified in multiple types of cataract, which have been described as progressive polymorphic anterior, posterior, or peripheral cortical. [from OMIM]

MedGen UID:
101117
Concept ID:
C0524524
Disease or Syndrome
9.

Multiple congenital anomalies

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

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
10.

Disease

Any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. The term is often used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function. [from NCI]

MedGen UID:
4347
Concept ID:
C0012634
Disease or Syndrome
11.

Cataract 43

MedGen UID:
833062
Concept ID:
CN228776
Disease or Syndrome
12.

Hemorrhagic destruction of the brain, subependymal calcification, and cataracts

HDBSCC is an autosomal recessive disorder with a distinctive phenotype comprising hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Affected individuals have a catastrophic neurologic clinical course resulting in death in infancy (summary by Akawi et al., 2013). [from OMIM]

MedGen UID:
462350
Concept ID:
C3151000
Disease or Syndrome
13.

Cataract 41

Cataract is an opacification of the lens or lens capsule in the eye and is the most common cause of childhood blindness in the world, with an incidence of 1 to 3 per 10,000 live births. If untreated in infancy or childhood, it frequently causes visual impairment and can result in irreversible amblyopia. Nuclear cataract refers to opacification within the embryonal and/or fetal nuclei of the lens (summary by Berry et al., 2013). [from OMIM]

MedGen UID:
349372
Concept ID:
C1861826
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...
Support Center