KEFH
MCID: KRT074
MIFTS: 25

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 72 29 6 70
Keratoendothelitis Fugax Hereditaria 57 72
Kefh 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
keratoendotheliitis fugax hereditaria:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


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) (Updated 05-Apr-2021)

MalaCards based summary : Keratoendotheliitis Fugax Hereditaria, also known as keratitis fugax hereditaria, is related to cryopyrin-associated periodic syndrome and keratitis, hereditary. 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 opacification of the corneal stroma

UniProtKB/Swiss-Prot : 72 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 : 73 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 11.4
2 keratitis, hereditary 10.3
3 rapidly involuting congenital hemangioma 10.3
4 corneal disease 10.3
5 corneal edema 10.3
6 collagen disease 10.3
7 endotheliitis 10.3

Graphical network of the top 20 diseases related to Keratoendotheliitis Fugax Hereditaria:



Diseases related to Keratoendotheliitis Fugax Hereditaria

Symptoms & Phenotypes for Keratoendotheliitis Fugax Hereditaria

Human phenotypes related to Keratoendotheliitis Fugax Hereditaria:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 photophobia 31 HP:0000613
2 opacification of the corneal stroma 31 HP:0007759
3 keratitis 31 HP:0000491
4 edema 31 HP:0000969
5 blurred vision 31 HP:0000622
6 epiphora 31 HP:0009926
7 conjunctival hyperemia 31 HP:0030953

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
photophobia
blurred vision
epiphora
corneal erosions
conjunctival injection
more

Clinical features from OMIM®:

148200 (Updated 05-Apr-2021)

Drugs & Therapeutics for Keratoendotheliitis Fugax Hereditaria

Search Clinical Trials , NIH Clinical Center for Keratoendotheliitis Fugax Hereditaria

Genetic Tests for Keratoendotheliitis Fugax Hereditaria

Genetic tests related to Keratoendotheliitis Fugax Hereditaria:

# Genetic test Affiliating Genes
1 Keratitis Fugax Hereditaria 29 NLRP3

Anatomical Context for Keratoendotheliitis Fugax Hereditaria

MalaCards organs/tissues related to Keratoendotheliitis Fugax Hereditaria:

40
Eye, Endothelial

Publications for Keratoendotheliitis Fugax Hereditaria

Articles related to Keratoendotheliitis Fugax Hereditaria:

# Title Authors PMID 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. 61 57 6
29366613 2018
2
Keratoendotheliitis fugax hereditaria. A clinical and specular microscopic study of a family with dominant inflammatory corneal disease. 57 6 61
3604606 1987
3
[KERATITIS FUGAX HEREDITARIA]. 57 61
14213210 1964
4
In Vivo Corneal Confocal Microscopy and Histopathology of Keratitis Fugax Hereditaria From a Pathogenic Variant in NLRP3. 61
32059980 2020
5
Keratitis fugax hereditaria--a new eye syndrome. 61
4380911 1966

Variations for Keratoendotheliitis Fugax Hereditaria

ClinVar genetic disease variations for Keratoendotheliitis Fugax Hereditaria:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NLRP3 NM_004895.4(NLRP3):c.1064T>C (p.Leu355Pro) SNV Pathogenic 4379 rs28937896 GRCh37: 1:247587809-247587809
GRCh38: 1:247424507-247424507
2 NLRP3 NM_004895.4(NLRP3):c.61G>C (p.Asp21His) SNV Likely pathogenic 495298 rs200154873 GRCh37: 1:247582157-247582157
GRCh38: 1:247418855-247418855
3 NLRP3 NM_004895.4(NLRP3):c.2126C>A (p.Pro709Gln) SNV Uncertain significance 583341 rs200378519 GRCh37: 1:247588871-247588871
GRCh38: 1:247425569-247425569
4 NLRP3 NM_004895.4(NLRP3):c.2790A>C (p.Lys930Asn) SNV Uncertain significance 234307 rs876660975 GRCh37: 1:247607394-247607394
GRCh38: 1:247444092-247444092

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

72
# Symbol AA change Variation ID SNP ID
1 NLRP3 p.Asp21His VAR_080490 rs200154873

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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