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Items: 15

1.

Posterior polymorphous corneal dystrophy 1

MedGen UID:
343836
Concept ID:
C1852555
Disease or Syndrome
2.

Polymorphous corneal dystrophy

Posterior polymorphous corneal dystrophy (PPCD) is a rare disorder involving metaplasia and overgrowth of corneal endothelial cells (Krafchak et al., 2005). In patients with PPCD, these cells manifest in an epithelial morphology and gene expression pattern, produce an aberrant basement membrane, and, sometimes, spread over the iris and nearby structures in a way that increases the risk for glaucoma. Symptoms can range from very aggressive to asymptomatic and nonprogressive, even within the same family. The age of diagnosis is, most often, in the second or third decade of life. Clinically, PPCD is characterized by vesicles, bands, and polymorphous opacities at the level of the Descemet membrane and corneal endothelium. Peripheral anterior iris adhesions, iris atrophy, pupillary ectropion, and corectopia may also develop. Occasional severe visual disability results from secondary glaucoma or corneal edema. On ultrastructural examination, corneal endothelial cells show fibroblastic and epithelial-like transformation (summary by Liskova et al., 2012). Genetic Heterogeneity of Posterior Polymorphous Corneal Dystrophy Other forms of PPCD include PPCD2 (609140), caused by mutation in the COL8A2 gene (120252) on chromosome 1p34.3; PPCD3 (609141), caused by mutation in the ZEB1 gene (189909) on chromosome 10p; and PPCD4 (618031), caused by mutation in the GRHL2 gene (608576) on chromosome 8q22. [from OMIM]

MedGen UID:
87382
Concept ID:
C0339284
Disease or Syndrome
3.

Corneal dystrophy

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

MedGen UID:
3619
Concept ID:
C0010036
Disease or Syndrome
4.

Frequency

Class to represent frequency of phenotypic abnormalities within a patient cohort. [from HPO]

MedGen UID:
1381421
Concept ID:
C4321352
Intellectual Product
5.

X-linked congenital generalized hypertrichosis

X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness. [from ORDO]

MedGen UID:
341002
Concept ID:
C1855900
Disease or Syndrome
6.

Posterior polymorphous corneal dystrophy 3

MedGen UID:
322978
Concept ID:
C1836724
Disease or Syndrome
7.

none

No person or thing, nobody, not any. [from NCI]

MedGen UID:
107493
Concept ID:
C0549184
Finding
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
10.

Corneal disease

A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma. [from NCI]

MedGen UID:
3617
Concept ID:
C0010034
Disease or Syndrome
11.

Granular corneal dystrophy

A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gene. [from NCI]

MedGen UID:
42290
Concept ID:
C0018179
Disease or Syndrome
12.

Stromal corneal dystrophy

The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy. [from ORDO]

MedGen UID:
20973
Concept ID:
C0038457
Disease or Syndrome
13.

Honey-droplet corneal dystrophy

A rare superficial corneal dystrophy characterized by progressive opacity of the most anterior corneal layers. Slit-lamp examination reveals typical confluent translucent subepithelial deposits, extending in size and growing into clusters of golden droplets covering the cornea with disease progression. Patients present variably compromised visual acuity, depending on the stage of the disease. In advanced stages, decreased corneal sensation may lead to corneal trophic changes, perforation, and permanent visual loss. [from ORDO]

MedGen UID:
799167
Concept ID:
CN207218
Disease or Syndrome
14.

Groenouw corneal dystrophy type I

Groenouw type I, or granular type I, corneal dystrophy is an autosomal dominant disorder characterized by irregular aggregates of hyaline material in the corneal stroma. These aggregates can cause significant visual disturbance and may require corneal transplantation for restoration of visual acuity or for relief from recurrent corneal erosions (summary by Stone et al., 1994). [from OMIM]

MedGen UID:
351521
Concept ID:
C1641846
Disease or Syndrome
15.

Reis-Bucklers corneal dystrophy

Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment. [from ORDO]

MedGen UID:
83284
Concept ID:
C0339278
Disease or Syndrome
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