KEFH
MCID: KRT074
MIFTS: 22

Keratoendotheliitis Fugax Hereditaria (KEFH)

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Keratoendotheliitis Fugax Hereditaria

MalaCards integrated aliases for Keratoendotheliitis Fugax Hereditaria:

Name: Keratoendotheliitis Fugax Hereditaria 57
Keratitis Fugax Hereditaria 57 75 6 73
Keratoendothelitis Fugax Hereditaria 57 75
Kefh 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in the first to third decades of life (median, age 11 years)
episodes are almost always unilateral, and usually occur in alternating eyes
intervals between episodes vary greatly
episodes often follow physical or mental stress
episodes become less frequent and milder with age


HPO:

32
keratoendotheliitis fugax hereditaria:
Onset and clinical course juvenile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Keratoendotheliitis Fugax Hereditaria

OMIM : 57 Keratoendotheliitis fugax hereditaria is an autosomal dominant corneal disease that periodically and fleetingly affects the corneal endothelium, stroma, and vision, eventually resulting in central corneal stromal opacities in some patients. The disease is characterized by episodes of unilateral ocular pain, pericorneal injection, and photophobia. The acute symptoms vanish in 1 to 2 days, but vision remains blurry for several weeks. Onset occurs between ages 3 and 12 years, and may involve either eye. Episodes generally decrease in frequency and become more mild with age (summary by Turunen et al., 2018). (148200)

MalaCards based summary : Keratoendotheliitis Fugax Hereditaria, also known as keratitis fugax hereditaria, is related to cryopyrin-associated periodic syndrome and corneal disease. An important gene associated with Keratoendotheliitis Fugax Hereditaria is NLRP3 (NLR Family Pyrin Domain Containing 3). Affiliated tissues include eye and endothelial, and related phenotypes are photophobia and edema

UniProtKB/Swiss-Prot : 75 Keratoendothelitis fugax hereditaria: An autosomal dominant corneal disease that periodically, and fleetingly, affects the corneal endothelium, stroma, and vision, eventually leading to central corneal stromal opacities in some patients. The disease is characterized by unilateral attacks of ocular pain, pericorneal injection, and photophobia. The acute symptoms vanish in 1-2 days but vision remains blurry for several weeks. The attacks start at the age of 3-12 years and can affect either eye. They generally decrease in frequency and get milder with age.

Wikipedia : 76 Keratoendotheliitis fugax hereditaria is an autosomal dominantly inherited disease of the cornea, caused... more...

Related Diseases for Keratoendotheliitis Fugax Hereditaria

Diseases related to Keratoendotheliitis Fugax Hereditaria via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cryopyrin-associated periodic syndrome 11.9
2 corneal disease 10.4

Symptoms & Phenotypes for Keratoendotheliitis Fugax Hereditaria

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
photophobia
blurred vision
epiphora
corneal erosions
conjunctival injection
more

Clinical features from OMIM:

148200

Human phenotypes related to Keratoendotheliitis Fugax Hereditaria:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 photophobia 32 HP:0000613
2 edema 32 HP:0000969
3 opacification of the corneal stroma 32 HP:0007759
4 keratitis 32 HP:0000491
5 blurred vision 32 HP:0000622
6 conjunctival hyperemia 32 HP:0030953
7 epiphora 32 HP:0009926

Drugs & Therapeutics for Keratoendotheliitis Fugax Hereditaria

Search Clinical Trials , NIH Clinical Center for Keratoendotheliitis Fugax Hereditaria

Genetic Tests for Keratoendotheliitis Fugax Hereditaria

Anatomical Context for Keratoendotheliitis Fugax Hereditaria

MalaCards organs/tissues related to Keratoendotheliitis Fugax Hereditaria:

41
Eye, Endothelial

Publications for Keratoendotheliitis Fugax Hereditaria

Articles related to Keratoendotheliitis Fugax Hereditaria:

# Title Authors Year
1
Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene. ( 29366613 )
2018
2
Keratoendotheliitis fugax hereditaria. A clinical and specular microscopic study of a family with dominant inflammatory corneal disease. ( 3604606 )
1987
3
Keratitis fugax hereditaria--a new eye syndrome. ( 4380911 )
1966

Variations for Keratoendotheliitis Fugax Hereditaria

UniProtKB/Swiss-Prot genetic disease variations for Keratoendotheliitis Fugax Hereditaria:

75
# Symbol AA change Variation ID SNP ID
1 NLRP3 p.Asp21His VAR_080490 rs200154873

ClinVar genetic disease variations for Keratoendotheliitis Fugax Hereditaria:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NLRP3 NM_004895.4(NLRP3): c.61G> C (p.Asp21His) single nucleotide variant Pathogenic rs200154873 GRCh37 Chromosome 1, 247582157: 247582157
2 NLRP3 NM_004895.4(NLRP3): c.61G> C (p.Asp21His) single nucleotide variant Pathogenic rs200154873 GRCh38 Chromosome 1, 247418855: 247418855

Expression for Keratoendotheliitis Fugax Hereditaria

Search GEO for disease gene expression data for Keratoendotheliitis Fugax Hereditaria.

Pathways for Keratoendotheliitis Fugax Hereditaria

GO Terms for Keratoendotheliitis Fugax Hereditaria

Sources for Keratoendotheliitis Fugax Hereditaria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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