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Results: 9

1.

Amyloidosis

Amyloidosis occurs when abnormal proteins called amyloids build up and form deposits. The deposits can collect in organs such as the kidney and heart. This can cause the organs to become stiff and unable to work the way they should. . There are three main types of amyloidosis:. -Primary - with no known cause. -Secondary - caused by another disease, including some types of cancer. -Familial - passed down through genes. Symptoms can vary, depending upon which organs are affected. Treatment depends on the type of amyloidosis you have. The goal is to help with symptoms and limit the production of proteins. If another disease is the cause, it needs to be treated.  [from MedlinePlus]

MedGen UID:
272
Concept ID:
C0002726
Disease or Syndrome
2.

Amyloidosis

The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body. [from HPO]

MedGen UID:
506428
Concept ID:
CN116766
Finding
3.

Lattice corneal dystrophy

The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea. [from HPO]

MedGen UID:
504748
Concept ID:
CN001081
Finding
4.

Corneal dystrophy

An abnormality of the cornea that is characterized by opacity of one or parts of the cornea. [from HPO]

MedGen UID:
504738
Concept ID:
CN001063
Finding
5.

Lattice corneal dystrophy Type III

Gelatinous drop-like corneal dystrophy is an autosomal recessive disorder characterized by severe corneal amyloidosis leading to blindness. Clinical manifestations, which appear in the first decade of life, include blurred vision, photophobia, and foreign-body sensation. By the third decade, raised, yellowish-gray, gelatinous masses severely impair visual acuity, and lamellar keratoplasty is required for most patients (summary by Tsujikawa et al., 1999). [from OMIM]

MedGen UID:
90939
Concept ID:
C0339273
Disease or Syndrome
6.

Reis-Bucklers' corneal dystrophy

MedGen UID:
83284
Concept ID:
C0339278
Disease or Syndrome
7.

Corneal dystrophy

MedGen UID:
3619
Concept ID:
C0010036
Disease or Syndrome
8.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
9.

Hereditary eye diseases

Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder. [from MeSH]

MedGen UID:
41933
Concept ID:
C0015398
Disease or Syndrome

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