MCID: FML292
MIFTS: 28

Familial Drusen

Categories: Eye diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Familial Drusen

MalaCards integrated aliases for Familial Drusen:

Name: Familial Drusen 59
Malattia Leventinese 59 29 6 73
Doyne Honeycomb Retinal Dystrophy 59 73
Dominant Radial Drusen 59
Dominant Drusen 59
Dhrd 59

Characteristics:

Orphanet epidemiological data:

59
familial drusen
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

Orphanet 59 ORPHA75376
ICD10 via Orphanet 34 H35.5
UMLS via Orphanet 74 C1832174 C1852020 C1852021

Summaries for Familial Drusen

MalaCards based summary : Familial Drusen, also known as malattia leventinese, is related to macular degeneration, age-related, 1 and doyne honeycomb retinal dystrophy. An important gene associated with Familial Drusen is EFEMP1 (EGF Containing Fibulin Extracellular Matrix Protein 1), and among its related pathways/superpathways are Creation of C4 and C2 activators and Complement and coagulation cascades. Affiliated tissues include eye, and related phenotypes are pigmentation and renal/urinary system

Related Diseases for Familial Drusen

Graphical network of the top 20 diseases related to Familial Drusen:



Diseases related to Familial Drusen

Symptoms & Phenotypes for Familial Drusen

MGI Mouse Phenotypes related to Familial Drusen:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.96 CFH EFEMP1
2 renal/urinary system MP:0005367 8.8 CFI EFEMP1 CFH

Drugs & Therapeutics for Familial Drusen

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541 Not Applicable

Search NIH Clinical Center for Familial Drusen

Genetic Tests for Familial Drusen

Genetic tests related to Familial Drusen:

# Genetic test Affiliating Genes
1 Malattia Leventinese 29

Anatomical Context for Familial Drusen

MalaCards organs/tissues related to Familial Drusen:

41
Eye

Publications for Familial Drusen

Articles related to Familial Drusen:

(show all 11)
# Title Authors Year
1
Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy: Similarities to Age-Related Macular Degeneration and Potential Therapies. ( 26427406 )
2016
2
MALATTIA LEVENTINESE/DOYNE HONEYCOMB RETINAL DYSTROPHY IN A CHINESE FAMILY WITH MUTATION OF THE EFEMP1 GENE. ( 25111685 )
2014
3
Ocular photography contest. Grand prize: posterior segment: Malattia Leventinese/Doyne honeycomb retinal dystrophy. ( 23281528 )
2012
4
Expression and cell compartmentalization of EFEMP1, a protein associated with Malattia Leventinese. ( 18188955 )
2008
5
Symptomatic abnormalities of dark adaptation in patients with EFEMP1 retinal dystrophy (Malattia Leventinese/Doyne honeycomb retinal dystrophy). ( 11913893 )
2002
6
Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration. ( 12242346 )
2002
7
Genetic heterogeneity in Malattia Leventinese. ( 12431256 )
2002
8
A single EFEMP1 mutation associated with both malattia Leventinese and Doyne honeycomb retinal dystrophy. ( 10369267 )
1999
9
Macular dystrophy of malattia leventinese. A 25 year follow up. ( 10636647 )
1999
10
Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21. ( 8573024 )
1996
11
The electro-oculogram in diffuse (familial) drusen. ( 1252174 )
1976

Variations for Familial Drusen

ClinVar genetic disease variations for Familial Drusen:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EFEMP1 NM_001039348.2(EFEMP1): c.1033C> T (p.Arg345Trp) single nucleotide variant Pathogenic rs121434491 GRCh37 Chromosome 2, 56098226: 56098226
2 EFEMP1 NM_001039348.2(EFEMP1): c.1033C> T (p.Arg345Trp) single nucleotide variant Pathogenic rs121434491 GRCh38 Chromosome 2, 55871091: 55871091

Expression for Familial Drusen

Search GEO for disease gene expression data for Familial Drusen.

Pathways for Familial Drusen

GO Terms for Familial Drusen

Cellular components related to Familial Drusen according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.33 CFH CFI EFEMP1
2 extracellular region GO:0005576 9.13 CFH CFI EFEMP1
3 extracellular space GO:0005615 8.8 CFH CFI EFEMP1

Biological processes related to Familial Drusen according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 8.96 CFH CFI
2 regulation of complement activation GO:0030449 8.62 CFH CFI

Sources for Familial Drusen

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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