BLD
MCID: BSL037
MIFTS: 34

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 macular dystrophy, vitelliform, 3. An important gene associated with Basal Laminar Drusen is CFH (Complement Factor H), and among its related pathways/superpathways are Complement and coagulation cascades and Degradation of the extracellular matrix. 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 HMCN1 FBLN5 EFEMP1 CFH
2 macular dystrophy, vitelliform, 3 10.2
3 vitelliform macular dystrophy 10.2
4 scabies 10.2
5 aging 10.1
6 familial drusen 9.7 EFEMP1 CFH
7 retinal drusen 9.7 FBLN5 EFEMP1 CFH
8 degeneration of macula and posterior pole 9.5 HMCN1 EFEMP1 CFH

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 15)
# Title Authors Year
1
Bilateral choroidal neovascularization associated with basal laminar drusen in a 31-year-old. ( 24862792 )
2014
2
Clinical evaluation of 3 families with basal laminar drusen caused by novel mutations in the complement factor H gene. ( 22491393 )
2012
3
Short-term changes of Basal laminar drusen on spectral-domain optical coherence tomography. ( 22626619 )
2012
4
High-resolution Fourier-domain optical coherence tomography findings in vitelliform detachment associated with basal laminar drusen. ( 21836408 )
2011
5
Basal laminar drusen and soft drusen have similar glycan composition. ( 20436539 )
2010
6
Optical coherence tomography study of adult vitelliform macular detachment in a patient with basal laminar drusen. ( 19949834 )
2010
7
Photodynamic therapy for choroidal neovascularisation secondary to basal laminar drusen. ( 19798112 )
2009
8
Vitelliform macular detachment associated with Basal laminar drusen is unresponsive to vascular endothelial growth factor blockade. ( 25390838 )
2009
9
Basal laminar drusen caused by compound heterozygous variants in the CFH gene. ( 18252232 )
2008
10
Autofluorescence of basal laminar drusen. ( 18040253 )
2007
11
Five-year evolution of basal laminar drusen combined with vitelliform macular detachment. ( 15477481 )
2004
12
Location, substructure, and composition of basal laminar drusen compared with drusen associated with aging and age-related macular degeneration. ( 10682974 )
2000
13
[Indocyanine green angiography of basal laminar drusen in the retinal pigment epithelium associated with vitelliform macular degeneration]. ( 9759404 )
1998
14
Visual function and course of basal laminar drusen combined with vitelliform macular detachment. ( 7520275 )
1994
15
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 120)
# Gene Variation Type Significance SNP ID Assembly Location
1 CFH NM_000186.3(CFH): c.1204C= (p.His402=) single nucleotide variant Pathogenic,risk factor rs1061170 GRCh37 Chromosome 1, 196659237: 196659237
2 CFH NM_000186.3(CFH): c.1204C= (p.His402=) single nucleotide variant Pathogenic,risk factor rs1061170 GRCh38 Chromosome 1, 196690107: 196690107
3 CFH NM_000186.3(CFH): c.184G> A (p.Val62Ile) single nucleotide variant Benign rs800292 GRCh37 Chromosome 1, 196642233: 196642233
4 CFH NM_000186.3(CFH): c.184G> A (p.Val62Ile) single nucleotide variant Benign rs800292 GRCh38 Chromosome 1, 196673103: 196673103
5 CFH NM_000186.3(CFH): c.1222C> T (p.Gln408Ter) single nucleotide variant Pathogenic rs121913061 GRCh37 Chromosome 1, 196659255: 196659255
6 CFH NM_000186.3(CFH): c.1222C> T (p.Gln408Ter) single nucleotide variant Pathogenic rs121913061 GRCh38 Chromosome 1, 196690125: 196690125
7 CFH NM_000186.3(CFH): c.3234G> T (p.Arg1078Ser) single nucleotide variant Pathogenic rs121913062 GRCh37 Chromosome 1, 196712682: 196712682
8 CFH NM_000186.3(CFH): c.3234G> T (p.Arg1078Ser) single nucleotide variant Pathogenic rs121913062 GRCh38 Chromosome 1, 196743552: 196743552
9 CFH NM_000186.3(CFH): c.350+6T> G single nucleotide variant Pathogenic rs387906550 GRCh37 Chromosome 1, 196643098: 196643098
10 CFH NM_000186.3(CFH): c.350+6T> G single nucleotide variant Pathogenic rs387906550 GRCh38 Chromosome 1, 196673968: 196673968
11 CFH NM_000186.3(CFH): c.2196G> A (p.Thr732=) single nucleotide variant Likely benign rs144325643 GRCh38 Chromosome 1, 196726900: 196726900
12 CFH NM_000186.3(CFH): c.1935G> T (p.Thr645=) single nucleotide variant Likely benign rs56035657 GRCh37 Chromosome 1, 196695661: 196695661
13 CFH NM_000186.3(CFH): c.1935G> T (p.Thr645=) single nucleotide variant Likely benign rs56035657 GRCh38 Chromosome 1, 196726531: 196726531
14 CFH NM_000186.3(CFH): c.1652T> C (p.Ile551Thr) single nucleotide variant Likely benign rs35453854 GRCh37 Chromosome 1, 196684855: 196684855
15 CFH NM_000186.3(CFH): c.1652T> C (p.Ile551Thr) single nucleotide variant Likely benign rs35453854 GRCh38 Chromosome 1, 196715725: 196715725
16 CFH NM_000186.3(CFH): c.921A> C (p.Ala307=) single nucleotide variant Benign rs1061147 GRCh37 Chromosome 1, 196654324: 196654324
17 CFH NM_000186.3(CFH): c.921A> C (p.Ala307=) single nucleotide variant Benign rs1061147 GRCh38 Chromosome 1, 196685194: 196685194
18 CFH NM_000186.3(CFH): c.770G> A (p.Arg257His) single nucleotide variant Likely benign rs140107330 GRCh37 Chromosome 1, 196648903: 196648903
19 CFH NM_000186.3(CFH): c.770G> A (p.Arg257His) single nucleotide variant Likely benign rs140107330 GRCh38 Chromosome 1, 196679773: 196679773
20 CFH NM_000186.3(CFH): c.477T> C (p.Ser159=) single nucleotide variant Likely benign rs34940854 GRCh37 Chromosome 1, 196646655: 196646655
21 CFH NM_000186.3(CFH): c.477T> C (p.Ser159=) single nucleotide variant Likely benign rs34940854 GRCh38 Chromosome 1, 196677525: 196677525
22 CFH NM_000186.3(CFH): c.350+9T> C single nucleotide variant Likely benign rs201686629 GRCh37 Chromosome 1, 196643101: 196643101
23 CFH NM_000186.3(CFH): c.350+9T> C single nucleotide variant Likely benign rs201686629 GRCh38 Chromosome 1, 196673971: 196673971
24 CFH NM_000186.3(CFH): c.245-7G> A single nucleotide variant Likely benign rs35814900 GRCh37 Chromosome 1, 196642980: 196642980
25 CFH NM_000186.3(CFH): c.245-7G> A single nucleotide variant Likely benign rs35814900 GRCh38 Chromosome 1, 196673850: 196673850
26 CFH NM_000186.3(CFH): c.103G> A (p.Gly35Ser) single nucleotide variant Uncertain significance rs886045742 GRCh37 Chromosome 1, 196642152: 196642152
27 CFH NM_000186.3(CFH): c.103G> A (p.Gly35Ser) single nucleotide variant Uncertain significance rs886045742 GRCh38 Chromosome 1, 196673022: 196673022
28 CFH NM_000186.3(CFH): c.-124G> T single nucleotide variant Likely benign rs527444515 GRCh37 Chromosome 1, 196621124: 196621124
29 CFH NM_000186.3(CFH): c.-124G> T single nucleotide variant Likely benign rs527444515 GRCh38 Chromosome 1, 196651994: 196651994
30 CFH NM_000186.3(CFH): c.3138C> T (p.Thr1046=) single nucleotide variant Benign rs61822181 GRCh37 Chromosome 1, 196712586: 196712586
31 CFH NM_000186.3(CFH): c.3138C> T (p.Thr1046=) single nucleotide variant Benign rs61822181 GRCh38 Chromosome 1, 196743456: 196743456
32 CFH NM_000186.3(CFH): c.3134-7T> C single nucleotide variant Uncertain significance rs779166622 GRCh37 Chromosome 1, 196712575: 196712575
33 CFH NM_000186.3(CFH): c.3134-7T> C single nucleotide variant Uncertain significance rs779166622 GRCh38 Chromosome 1, 196743445: 196743445
34 CFH NM_000186.3(CFH): c.2850G> T (p.Gln950His) single nucleotide variant Likely benign rs149474608 GRCh37 Chromosome 1, 196709816: 196709816
35 CFH NM_000186.3(CFH): c.2850G> T (p.Gln950His) single nucleotide variant Likely benign rs149474608 GRCh38 Chromosome 1, 196740686: 196740686
36 CFH NM_000186.3(CFH): c.*14G> A single nucleotide variant Uncertain significance rs463726 GRCh37 Chromosome 1, 196716457: 196716457
37 CFH NM_000186.3(CFH): c.*14G> A single nucleotide variant Uncertain significance rs463726 GRCh38 Chromosome 1, 196747327: 196747327
38 CFH NM_000186.3(CFH): c.2784C> A (p.Gly928=) single nucleotide variant Uncertain significance rs755926856 GRCh37 Chromosome 1, 196709750: 196709750
39 CFH NM_000186.3(CFH): c.2784C> A (p.Gly928=) single nucleotide variant Uncertain significance rs755926856 GRCh38 Chromosome 1, 196740620: 196740620
40 CFH NM_000186.3(CFH): c.2542G> A (p.Gly848Arg) single nucleotide variant Uncertain significance rs886045746 GRCh37 Chromosome 1, 196706082: 196706082
41 CFH NM_000186.3(CFH): c.2542G> A (p.Gly848Arg) single nucleotide variant Uncertain significance rs886045746 GRCh38 Chromosome 1, 196736952: 196736952
42 CFH NM_000186.3(CFH): c.1548T> A (p.Asn516Lys) single nucleotide variant Likely benign rs147403664 GRCh37 Chromosome 1, 196684751: 196684751
43 CFH NM_000186.3(CFH): c.1548T> A (p.Asn516Lys) single nucleotide variant Likely benign rs147403664 GRCh38 Chromosome 1, 196715621: 196715621
44 CFH NM_000186.3(CFH): c.3427C> G (p.Gln1143Glu) single nucleotide variant Benign rs15809 GRCh37 Chromosome 1, 196715063: 196715063
45 CFH NM_000186.3(CFH): c.3427C> G (p.Gln1143Glu) single nucleotide variant Benign rs15809 GRCh38 Chromosome 1, 196745933: 196745933
46 CFH NM_000186.3(CFH): c.3310+12T> C single nucleotide variant Uncertain significance rs757045842 GRCh37 Chromosome 1, 196712770: 196712770
47 CFH NM_000186.3(CFH): c.3310+12T> C single nucleotide variant Uncertain significance rs757045842 GRCh38 Chromosome 1, 196743640: 196743640
48 CFH NM_000186.3(CFH): c.1428A> G (p.Gln476=) single nucleotide variant Likely benign rs34399588 GRCh37 Chromosome 1, 196682956: 196682956
49 CFH NM_000186.3(CFH): c.1428A> G (p.Gln476=) single nucleotide variant Likely benign rs34399588 GRCh38 Chromosome 1, 196713826: 196713826
50 CFH NM_000186.3(CFH): c.1204C> T (p.His402Tyr) single nucleotide variant Benign rs1061170 GRCh37 Chromosome 1, 196659237: 196659237

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

Pathways related to Basal Laminar Drusen according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.45 COL15A1 EFEMP1 FBLN5
2
Show member pathways
10.82 EFEMP1 FBLN5

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 space GO:0005615 9.67 CFH COL15A1 EFEMP1 FBLN5
2 extracellular region GO:0005576 9.65 CFH COL15A1 EFEMP1 FBLN5 HMCN1
3 extracellular exosome GO:0070062 9.35 CFH COL15A1 EFEMP1 FBLN5 HMCN1
4 extracellular matrix GO:0031012 9.33 COL15A1 EFEMP1 FBLN5
5 basement membrane GO:0005604 9.32 COL15A1 HMCN1
6 collagen-containing extracellular matrix GO:0062023 8.92 COL15A1 EFEMP1 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 8.96 COL15A1 FBLN5
2 visual perception GO:0007601 8.62 EFEMP1 HMCN1

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.13 EFEMP1 FBLN5 HMCN1
2 extracellular matrix structural constituent GO:0005201 8.8 COL15A1 EFEMP1 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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