Congenital hereditary endothelial dystrophy type II

General Information (adopted from Orphanet):

Synonyms, Signs: CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY OF CORNEA
CORNEAL DYSTROPHY, CONGENITAL HEREDITARY ENDOTHELIAL
CHEDII
CHED2
Autosomal recessive CHED
Infantile hereditary endothelial dystrophy
Autosomal recessive congenital hereditary endothelial dystrophy
maumenee corneal dystrophy
Congenital hereditary endothelial dystrophy type 2
Number of Symptoms 4
OrphanetNr: 293603
OMIM Id: 217700
ICD-10: H18.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Posterior corneal dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0007759) Opacification of the corneal stroma 77 / 7739
2
(HPO:0007957) Corneal opacity 84 / 7739
3
(HPO:0008005) Congenital corneal dystrophy 3 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Corneal endothelial dystrophy is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane. There are both autosomal dominant (CHED1; 121700) and autosomal recessive ...
Clinical Description OMIM Maumenee (1960) reported several cases in which family histories of corneal endothelial dystrophy suggested recessive inheritance. In each of 2 families a brother and sister were affected. In view of the degree of corneal clouding, vision is often ...
Molecular genetics OMIM Vithana et al. (2006) considered the SLC4A11 gene (610206), which resides within the CHED2 locus refined by them, a candidate for causative mutations. The SLC4A11 gene encodes a sodium-borate cotransporter essential for cell growth and proliferation in mammalian ...