BLD
MCID: BSL037
MIFTS: 32

Basal Laminar Drusen (BLD)

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Basal Laminar Drusen

MalaCards integrated aliases for Basal Laminar Drusen:

Name: Basal Laminar Drusen 58 12 76 38 30 13 6 15 41 74
Drusen of Bruch Membrane 58 12 76
Drusen, Early Adult-Onset, Grouped 58
Early Adult-Onset Grouped Drusen 12
Drusen Early Adult-Onset Grouped 76
Drusen, Cuticular 58
Cuticular Drusen 12
Drusen Cuticular 76
Bld 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
also a recessive form, fleck retina disease (see 228980)


HPO:

33
basal laminar drusen:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060746
OMIM 58 126700
KEGG 38 H02108
MeSH 45 D015593
ICD10 34 H35.5
MedGen 43 C0730295
SNOMED-CT via HPO 70 18695008 263681008
UMLS 74 C0730295

Summaries for Basal Laminar Drusen

UniProtKB/Swiss-Prot : 76 Basal laminar drusen: Drusen are extracellular deposits that accumulate below the retinal pigment epithelium on Bruch membrane. Basal laminar drusen refers to an early adult-onset drusen phenotype that shows a pattern of uniform small, slightly raised yellow subretinal nodules randomly scattered in the macula. In later stages, these drusen often become more numerous, with clustered groups of drusen scattered throughout the retina. In time these small basal laminar drusen may expand and ultimately lead to a serous pigment epithelial detachment of the macula that may result in vision loss.

MalaCards based summary : Basal Laminar Drusen, also known as drusen of bruch membrane, is related to macular degeneration, age-related, 1 and scabies. An important gene associated with Basal Laminar Drusen is CFH (Complement Factor H), and among its related pathways/superpathways is Complement and coagulation cascades. Affiliated tissues include retina, eye and endothelial, and related phenotypes are progressive visual loss and drusen

Disease Ontology : 12 A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3.

Description from OMIM: 126700

Related Diseases for Basal Laminar Drusen

Diseases related to Basal Laminar Drusen via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 macular degeneration, age-related, 1 29.5 CFH FBLN5 HMCN1 SHROOM3
2 scabies 10.2
3 macular dystrophy, vitelliform, 3 10.2
4 vitelliform macular dystrophy 10.2
5 choroiditis 10.2
6 aging 10.2
7 macular degeneration, age-related, 4 10.2
8 retinal drusen 10.0 CFH FBLN5
9 kuhnt-junius degeneration 9.9 CFH SHROOM3
10 degeneration of macula and posterior pole 9.7 CFH HMCN1

Graphical network of the top 20 diseases related to Basal Laminar Drusen:



Diseases related to Basal Laminar Drusen

Symptoms & Phenotypes for Basal Laminar Drusen

Human phenotypes related to Basal Laminar Drusen:

33
# Description HPO Frequency HPO Source Accession
1 progressive visual loss 33 HP:0000529
2 drusen 33 HP:0011510

Symptoms via clinical synopsis from OMIM:

58
Eyes:
multiple drusen of bruch membrane
round or oval grape-like lesions of posterior polar retina
pigmentary disturbances with secondary calcifications
progressive loss of vision

Clinical features from OMIM:

126700

Drugs & Therapeutics for Basal Laminar Drusen

Search Clinical Trials , NIH Clinical Center for Basal Laminar Drusen

Genetic Tests for Basal Laminar Drusen

Genetic tests related to Basal Laminar Drusen:

# Genetic test Affiliating Genes
1 Basal Laminar Drusen 30 CFH

Anatomical Context for Basal Laminar Drusen

MalaCards organs/tissues related to Basal Laminar Drusen:

42
Retina, Eye, Endothelial

Publications for Basal Laminar Drusen

Articles related to Basal Laminar Drusen:

(show all 39)
# Title Authors Year
1
Bilateral choroidal neovascularization associated with basal laminar drusen in a 31-year-old. ( 24862792 )
2014
2
CFH and ARMS2 genetic polymorphisms predict response to antioxidants and zinc in patients with age-related macular degeneration. ( 23972322 )
2013
3
Clinical evaluation of 3 families with basal laminar drusen caused by novel mutations in the complement factor H gene. ( 22491393 )
2012
4
Short-term changes of Basal laminar drusen on spectral-domain optical coherence tomography. ( 22626619 )
2012
5
High-resolution Fourier-domain optical coherence tomography findings in vitelliform detachment associated with basal laminar drusen. ( 21836408 )
2011
6
Complement regulation at necrotic cell lesions is impaired by the age-related macular degeneration-associated factor-H His402 risk variant. ( 21930971 )
2011
7
Complement factor H binds malondialdehyde epitopes and protects from oxidative stress. ( 21979047 )
2011
8
Optical coherence tomography study of adult vitelliform macular detachment in a patient with basal laminar drusen. ( 19949834 )
2010
9
Basal laminar drusen and soft drusen have similar glycan composition. ( 20436539 )
2010
10
Impaired binding of the age-related macular degeneration-associated complement factor H 402H allotype to Bruch's membrane in human retina. ( 20660596 )
2010
11
Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. ( 19821824 )
2010
12
Photodynamic therapy for choroidal neovascularisation secondary to basal laminar drusen. ( 19798112 )
2009
13
Vitelliform macular detachment associated with Basal laminar drusen is unresponsive to vascular endothelial growth factor blockade. ( 25390838 )
2009
14
Atypical hemolytic-uremic syndrome. ( 19846853 )
2009
15
Multilocus analysis of age-related macular degeneration. ( 19259132 )
2009
16
Basal laminar drusen caused by compound heterozygous variants in the CFH gene. ( 18252232 )
2008
17
Structure of the N-terminal region of complement factor H and conformational implications of disease-linked sequence variations. ( 18252712 )
2008
18
Autofluorescence of basal laminar drusen. ( 18040253 )
2007
19
The factor H variant associated with age-related macular degeneration (His-384) and the non-disease-associated form bind differentially to C-reactive protein, fibromodulin, DNA, and necrotic cells. ( 17293598 )
2007
20
Structure shows that a glycosaminoglycan and protein recognition site in factor H is perturbed by age-related macular degeneration-linked single nucleotide polymorphism. ( 17360715 )
2007
21
Complement factor H polymorphism p.Tyr402His and cuticular Drusen. ( 17210858 )
2007
22
Population-based study of early age-related macular degeneration: role of the complement factor H Y402H polymorphism in bilateral but not unilateral disease. ( 17198853 )
2007
23
Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular degeneration. ( 17241667 )
2007
24
Association of complement factor H Y402H gene polymorphism with different subtypes of exudative age-related macular degeneration. ( 17398321 )
2007
25
CFH gene variant, Y402H, and smoking, body mass index, environmental associations with advanced age-related macular degeneration. ( 16816528 )
2006
26
His-384 allotypic variant of factor H associated with age-related macular degeneration has different heparin binding properties from the non-disease-associated form. ( 16787919 )
2006
27
Individuals homozygous for the age-related macular degeneration risk-conferring variant of complement factor H have elevated levels of CRP in the choroid. ( 17079491 )
2006
28
No association between complement factor H gene polymorphism and exudative age-related macular degeneration in Japanese. ( 16710702 )
2006
29
Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II). ( 16612335 )
2006
30
A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. ( 15870199 )
2005
31
Complement factor H polymorphism and age-related macular degeneration. ( 15761121 )
2005
32
Complement factor H variant increases the risk of age-related macular degeneration. ( 15761120 )
2005
33
Complement factor H polymorphism in age-related macular degeneration. ( 15761122 )
2005
34
Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. ( 15895326 )
2005
35
Five-year evolution of basal laminar drusen combined with vitelliform macular detachment. ( 15477481 )
2004
36
Location, substructure, and composition of basal laminar drusen compared with drusen associated with aging and age-related macular degeneration. ( 10682974 )
2000
37
[Indocyanine green angiography of basal laminar drusen in the retinal pigment epithelium associated with vitelliform macular degeneration]. ( 9759404 )
1998
38
Visual function and course of basal laminar drusen combined with vitelliform macular detachment. ( 7520275 )
1994
39
Adult vitelliform macular detachment occurring in patients with basal laminar drusen. ( 3985082 )
1985

Variations for Basal Laminar Drusen

ClinVar genetic disease variations for Basal Laminar Drusen:

6 (show top 50) (show all 124)
# Gene Variation Type Significance SNP ID Assembly Location
1 CFH NM_000186.3(CFH): c.481G> T (p.Ala161Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 196646659: 196646659
2 CFH NM_000186.3(CFH): c.481G> T (p.Ala161Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 196677529: 196677529
3 CFH NM_000186.3(CFH): c.2461C> T (p.His821Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 196706001: 196706001
4 CFH NM_000186.3(CFH): c.2461C> T (p.His821Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 196736871: 196736871
5 CFH NM_000186.3(CFH): c.*178T> A single nucleotide variant Benign rs488738 GRCh37 Chromosome 1, 196716621: 196716621
6 CFH NM_000186.3(CFH): c.*178T> A single nucleotide variant Benign rs488738 GRCh38 Chromosome 1, 196747491: 196747491
7 CFH NM_000186.3(CFH): c.3178G> C (p.Val1060Leu) single nucleotide variant Likely benign rs55771831 GRCh37 Chromosome 1, 196712626: 196712626
8 CFH NM_000186.3(CFH): c.3178G> C (p.Val1060Leu) single nucleotide variant Likely benign rs55771831 GRCh38 Chromosome 1, 196743496: 196743496
9 CFH NM_000186.3(CFH): c.3172T> C (p.Tyr1058His) single nucleotide variant Likely benign rs55679475 GRCh37 Chromosome 1, 196712620: 196712620
10 CFH NM_000186.3(CFH): c.3172T> C (p.Tyr1058His) single nucleotide variant Likely benign rs55679475 GRCh38 Chromosome 1, 196743490: 196743490
11 CFH NM_000186.3(CFH): c.3004G> C (p.Gly1002Arg) single nucleotide variant Uncertain significance rs201816520 GRCh37 Chromosome 1, 196711052: 196711052
12 CFH NM_000186.3(CFH): c.3004G> C (p.Gly1002Arg) single nucleotide variant Uncertain significance rs201816520 GRCh38 Chromosome 1, 196741922: 196741922
13 CFH NM_000186.3(CFH): c.2957-7A> G single nucleotide variant Likely benign rs190778135 GRCh37 Chromosome 1, 196710998: 196710998
14 CFH NM_000186.3(CFH): c.2957-7A> G single nucleotide variant Likely benign rs190778135 GRCh38 Chromosome 1, 196741868: 196741868
15 CFH NM_000186.3(CFH): c.2867C> T (p.Thr956Met) single nucleotide variant Likely benign rs145975787 GRCh37 Chromosome 1, 196709833: 196709833
16 CFH NM_000186.3(CFH): c.2867C> T (p.Thr956Met) single nucleotide variant Likely benign rs145975787 GRCh38 Chromosome 1, 196740703: 196740703
17 CFH NM_000186.3(CFH): c.2639C> T (p.Thr880Ile) single nucleotide variant Likely benign rs186711438 GRCh37 Chromosome 1, 196706647: 196706647
18 CFH NM_000186.3(CFH): c.2639C> T (p.Thr880Ile) single nucleotide variant Likely benign rs186711438 GRCh38 Chromosome 1, 196737517: 196737517
19 CFH NM_000186.3(CFH): c.2634C> T (p.His878=) single nucleotide variant Benign/Likely benign rs35292876 GRCh37 Chromosome 1, 196706642: 196706642
20 CFH NM_000186.3(CFH): c.2634C> T (p.His878=) single nucleotide variant Benign/Likely benign rs35292876 GRCh38 Chromosome 1, 196737512: 196737512
21 CFH NM_000186.3(CFH): c.2509G> A (p.Val837Ile) single nucleotide variant Likely benign rs55807605 GRCh37 Chromosome 1, 196706049: 196706049
22 CFH NM_000186.3(CFH): c.2509G> A (p.Val837Ile) single nucleotide variant Likely benign rs55807605 GRCh38 Chromosome 1, 196736919: 196736919
23 CFH NM_000186.3(CFH): c.2196G> A (p.Thr732=) single nucleotide variant Likely benign rs144325643 GRCh37 Chromosome 1, 196696030: 196696030
24 CFH NM_000186.3(CFH): c.2196G> A (p.Thr732=) single nucleotide variant Likely benign rs144325643 GRCh38 Chromosome 1, 196726900: 196726900
25 CFH NM_000186.3(CFH): c.1935G> T (p.Thr645=) single nucleotide variant Likely benign rs56035657 GRCh37 Chromosome 1, 196695661: 196695661
26 CFH NM_000186.3(CFH): c.1935G> T (p.Thr645=) single nucleotide variant Likely benign rs56035657 GRCh38 Chromosome 1, 196726531: 196726531
27 CFH NM_000186.3(CFH): c.1652T> C (p.Ile551Thr) single nucleotide variant Likely benign rs35453854 GRCh37 Chromosome 1, 196684855: 196684855
28 CFH NM_000186.3(CFH): c.1652T> C (p.Ile551Thr) single nucleotide variant Likely benign rs35453854 GRCh38 Chromosome 1, 196715725: 196715725
29 CFH NM_000186.3(CFH): c.921A> C (p.Ala307=) single nucleotide variant Benign rs1061147 GRCh37 Chromosome 1, 196654324: 196654324
30 CFH NM_000186.3(CFH): c.921A> C (p.Ala307=) single nucleotide variant Benign rs1061147 GRCh38 Chromosome 1, 196685194: 196685194
31 CFH NM_000186.3(CFH): c.770G> A (p.Arg257His) single nucleotide variant Likely benign rs140107330 GRCh37 Chromosome 1, 196648903: 196648903
32 CFH NM_000186.3(CFH): c.770G> A (p.Arg257His) single nucleotide variant Likely benign rs140107330 GRCh38 Chromosome 1, 196679773: 196679773
33 CFH NM_000186.3(CFH): c.477T> C (p.Ser159=) single nucleotide variant Likely benign rs34940854 GRCh37 Chromosome 1, 196646655: 196646655
34 CFH NM_000186.3(CFH): c.477T> C (p.Ser159=) single nucleotide variant Likely benign rs34940854 GRCh38 Chromosome 1, 196677525: 196677525
35 CFH NM_000186.3(CFH): c.350+9T> C single nucleotide variant Likely benign rs201686629 GRCh37 Chromosome 1, 196643101: 196643101
36 CFH NM_000186.3(CFH): c.350+9T> C single nucleotide variant Likely benign rs201686629 GRCh38 Chromosome 1, 196673971: 196673971
37 CFH NM_000186.3(CFH): c.245-7G> A single nucleotide variant Likely benign rs35814900 GRCh37 Chromosome 1, 196642980: 196642980
38 CFH NM_000186.3(CFH): c.245-7G> A single nucleotide variant Likely benign rs35814900 GRCh38 Chromosome 1, 196673850: 196673850
39 CFH NM_000186.3(CFH): c.103G> A (p.Gly35Ser) single nucleotide variant Uncertain significance rs886045742 GRCh37 Chromosome 1, 196642152: 196642152
40 CFH NM_000186.3(CFH): c.103G> A (p.Gly35Ser) single nucleotide variant Uncertain significance rs886045742 GRCh38 Chromosome 1, 196673022: 196673022
41 CFH NM_000186.3(CFH): c.-124G> T single nucleotide variant Likely benign rs527444515 GRCh37 Chromosome 1, 196621124: 196621124
42 CFH NM_000186.3(CFH): c.-124G> T single nucleotide variant Likely benign rs527444515 GRCh38 Chromosome 1, 196651994: 196651994
43 CFH NM_000186.3(CFH): c.3138C> T (p.Thr1046=) single nucleotide variant Benign rs61822181 GRCh37 Chromosome 1, 196712586: 196712586
44 CFH NM_000186.3(CFH): c.3138C> T (p.Thr1046=) single nucleotide variant Benign rs61822181 GRCh38 Chromosome 1, 196743456: 196743456
45 CFH NM_000186.3(CFH): c.3134-7T> C single nucleotide variant Uncertain significance rs779166622 GRCh37 Chromosome 1, 196712575: 196712575
46 CFH NM_000186.3(CFH): c.3134-7T> C single nucleotide variant Uncertain significance rs779166622 GRCh38 Chromosome 1, 196743445: 196743445
47 CFH NM_000186.3(CFH): c.2850G> T (p.Gln950His) single nucleotide variant Likely benign rs149474608 GRCh37 Chromosome 1, 196709816: 196709816
48 CFH NM_000186.3(CFH): c.2850G> T (p.Gln950His) single nucleotide variant Likely benign rs149474608 GRCh38 Chromosome 1, 196740686: 196740686
49 CFH NM_000186.3(CFH): c.*14G> A single nucleotide variant Uncertain significance rs463726 GRCh37 Chromosome 1, 196716457: 196716457
50 CFH NM_000186.3(CFH): c.*14G> A single nucleotide variant Uncertain significance rs463726 GRCh38 Chromosome 1, 196747327: 196747327

Expression for Basal Laminar Drusen

Search GEO for disease gene expression data for Basal Laminar Drusen.

Pathways for Basal Laminar Drusen

Pathways related to Basal Laminar Drusen according to KEGG:

38
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

GO Terms for Basal Laminar Drusen

Cellular components related to Basal Laminar Drusen according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.56 CFH COL15A1 FBLN5 HMCN1
2 extracellular exosome GO:0070062 9.46 CFH COL15A1 FBLN5 HMCN1
3 basement membrane GO:0005604 8.96 COL15A1 HMCN1
4 collagen-containing extracellular matrix GO:0062023 8.8 COL15A1 FBLN5 HMCN1

Biological processes related to Basal Laminar Drusen according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 8.62 COL15A1 FBLN5

Molecular functions related to Basal Laminar Drusen according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.62 COL15A1 HMCN1

Sources for Basal Laminar Drusen

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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