Autosomal dominant keratitis

General Information (adopted from Orphanet):

Synonyms, Signs: Hereditary keratitis
Number of Symptoms 5
OrphanetNr: 2334
OMIM Id: 148190
ICD-10: H16.8
UMLs: C1835698
MeSH: C537022
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: 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:0000491) Keratitis 21 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
(OMIM) Hereditary childhood corneal clouding 1 / 7739
5
(OMIM) Recurrent stromal keratitis and vascularization 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kivlin et al. (1986) reported a unique form of hereditary childhood corneal clouding, characterized by recurrent stromal keratitis and vascularization. Male-to-male transmission as well as multiple affected generations without consanguinity indicated autosomal dominant inheritance. Male and female members ...