BLD
MCID: BSL037
MIFTS: 29

Basal Laminar Drusen (BLD)

Categories: Genetic diseases, Eye diseases

Aliases & Classifications for Basal Laminar Drusen

MalaCards integrated aliases for Basal Laminar Drusen:

Name: Basal Laminar Drusen 57 12 75 29 13 6 15 40 73
Drusen of Bruch Membrane 57 12 75
Drusen, Early Adult-Onset, Grouped 57
Early Adult-Onset Grouped Drusen 12
Drusen Early Adult-Onset Grouped 75
Drusen, Cuticular 57
Cuticular Drusen 12
Drusen Cuticular 75
Bld 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
also a recessive form, fleck retina disease (see 228980)


HPO:

32
basal laminar drusen:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 126700
Disease Ontology 12 DOID:0060746
ICD10 33 H35.5
MedGen 42 C0730295
MeSH 44 D015593
SNOMED-CT via HPO 69 263681008
UMLS 73 C0730295

Summaries for Basal Laminar Drusen

UniProtKB/Swiss-Prot : 75 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 choroiditis. An important gene associated with Basal Laminar Drusen is CFH (Complement Factor H). Affiliated tissues include retina, eye and endothelial, and related phenotype is progressive visual loss.

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 28.8 CFH FBLN5 HMCN1
2 choroiditis 10.2
3 aging 10.0
4 retinitis 10.0
5 endotheliitis 10.0
6 retinal drusen 9.7 CFH FBLN5
7 degeneration of macula and posterior pole 9.3 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Basal Laminar Drusen:

32
# Description HPO Frequency HPO Source Accession
1 progressive visual loss 32 HP:0000529

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 29 CFH

Anatomical Context for Basal Laminar Drusen

MalaCards organs/tissues related to Basal Laminar Drusen:

41
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 118)
# 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.1222C> T (p.Gln408Ter) single nucleotide variant Pathogenic rs121913061 GRCh37 Chromosome 1, 196659255: 196659255
4 CFH NM_000186.3(CFH): c.1222C> T (p.Gln408Ter) single nucleotide variant Pathogenic rs121913061 GRCh38 Chromosome 1, 196690125: 196690125
5 CFH NM_000186.3(CFH): c.3234G> T (p.Arg1078Ser) single nucleotide variant Pathogenic rs121913062 GRCh37 Chromosome 1, 196712682: 196712682
6 CFH NM_000186.3(CFH): c.3234G> T (p.Arg1078Ser) single nucleotide variant Pathogenic rs121913062 GRCh38 Chromosome 1, 196743552: 196743552
7 CFH NM_000186.3(CFH): c.350+6T> G single nucleotide variant Pathogenic rs387906550 GRCh37 Chromosome 1, 196643098: 196643098
8 CFH NM_000186.3(CFH): c.350+6T> G single nucleotide variant Pathogenic rs387906550 GRCh38 Chromosome 1, 196673968: 196673968
9 CFH NM_000186.3(CFH): c.3176T> C (p.Ile1059Thr) single nucleotide variant Benign/Likely benign rs35343172 GRCh37 Chromosome 1, 196712624: 196712624
10 CFH NM_000186.3(CFH): c.3176T> C (p.Ile1059Thr) single nucleotide variant Benign/Likely benign rs35343172 GRCh38 Chromosome 1, 196743494: 196743494
11 CFH NM_000186.3(CFH): c.-195T> C single nucleotide variant Benign rs35836460 GRCh38 Chromosome 1, 196651923: 196651923
12 CFH NM_000186.3(CFH): c.-195T> C single nucleotide variant Benign rs35836460 GRCh37 Chromosome 1, 196621053: 196621053
13 CFH NM_000186.3(CFH): c.-61A> G single nucleotide variant Uncertain significance rs886045741 GRCh38 Chromosome 1, 196652057: 196652057
14 CFH NM_000186.3(CFH): c.-61A> G single nucleotide variant Uncertain significance rs886045741 GRCh37 Chromosome 1, 196621187: 196621187
15 CFH NM_000186.3(CFH): c.428-3C> T single nucleotide variant Uncertain significance rs886045744 GRCh38 Chromosome 1, 196677473: 196677473
16 CFH NM_000186.3(CFH): c.428-3C> T single nucleotide variant Uncertain significance rs886045744 GRCh37 Chromosome 1, 196646603: 196646603
17 CFH NM_000186.3(CFH): c.1949G> T (p.Gly650Val) single nucleotide variant Likely benign rs143237092 GRCh37 Chromosome 1, 196695675: 196695675
18 CFH NM_000186.3(CFH): c.1949G> T (p.Gly650Val) single nucleotide variant Likely benign rs143237092 GRCh38 Chromosome 1, 196726545: 196726545
19 CFH NM_000186.3(CFH): c.2016A> G (p.Gln672=) single nucleotide variant Benign rs3753396 GRCh37 Chromosome 1, 196695742: 196695742
20 CFH NM_000186.3(CFH): c.2016A> G (p.Gln672=) single nucleotide variant Benign rs3753396 GRCh38 Chromosome 1, 196726612: 196726612
21 CFH NM_000186.3(CFH): c.2236+8T> A single nucleotide variant Likely benign rs7537967 GRCh37 Chromosome 1, 196696078: 196696078
22 CFH NM_000186.3(CFH): c.2236+8T> A single nucleotide variant Likely benign rs7537967 GRCh38 Chromosome 1, 196726948: 196726948
23 CFH NM_000186.3(CFH): c.2808G> T (p.Glu936Asp) single nucleotide variant Benign rs1065489 GRCh37 Chromosome 1, 196709774: 196709774
24 CFH NM_000186.3(CFH): c.2808G> T (p.Glu936Asp) single nucleotide variant Benign rs1065489 GRCh38 Chromosome 1, 196740644: 196740644
25 CFH NM_000186.3(CFH): c.-175T> C single nucleotide variant Uncertain significance rs762143457 GRCh38 Chromosome 1, 196651943: 196651943
26 CFH NM_000186.3(CFH): c.-175T> C single nucleotide variant Uncertain significance rs762143457 GRCh37 Chromosome 1, 196621073: 196621073
27 CFH NM_000186.3(CFH): c.3050C> T (p.Thr1017Ile) single nucleotide variant Likely benign rs34362004 GRCh37 Chromosome 1, 196711098: 196711098
28 CFH NM_000186.3(CFH): c.3050C> T (p.Thr1017Ile) single nucleotide variant Likely benign rs34362004 GRCh38 Chromosome 1, 196741968: 196741968
29 CFH NM_000186.3(CFH): c.3133+8G> T single nucleotide variant Likely benign rs142718541 GRCh38 Chromosome 1, 196742059: 196742059
30 CFH NM_000186.3(CFH): c.3133+8G> T single nucleotide variant Likely benign rs142718541 GRCh37 Chromosome 1, 196711189: 196711189
31 CFH NM_000186.3(CFH): c.-79A> G single nucleotide variant Likely benign rs35906110 GRCh38 Chromosome 1, 196652039: 196652039
32 CFH NM_000186.3(CFH): c.-79A> G single nucleotide variant Likely benign rs35906110 GRCh37 Chromosome 1, 196621169: 196621169
33 CFH NM_000186.3(CFH): c.-36G> C single nucleotide variant Likely benign rs140356702 GRCh38 Chromosome 1, 196652082: 196652082
34 CFH NM_000186.3(CFH): c.-36G> C single nucleotide variant Likely benign rs140356702 GRCh37 Chromosome 1, 196621212: 196621212
35 CFH NM_000186.3(CFH): c.275C> T (p.Pro92Leu) single nucleotide variant Uncertain significance rs886045743 GRCh38 Chromosome 1, 196673887: 196673887
36 CFH NM_000186.3(CFH): c.275C> T (p.Pro92Leu) single nucleotide variant Uncertain significance rs886045743 GRCh37 Chromosome 1, 196643017: 196643017
37 CFH NM_000186.3(CFH): c.285T> C (p.Thr95=) single nucleotide variant Uncertain significance rs148182625 GRCh38 Chromosome 1, 196673897: 196673897
38 CFH NM_000186.3(CFH): c.285T> C (p.Thr95=) single nucleotide variant Uncertain significance rs148182625 GRCh37 Chromosome 1, 196643027: 196643027
39 CFH NM_000186.3(CFH): c.1160-15T> C single nucleotide variant Benign rs34815383 GRCh38 Chromosome 1, 196690048: 196690048
40 CFH NM_000186.3(CFH): c.1160-15T> C single nucleotide variant Benign rs34815383 GRCh37 Chromosome 1, 196659178: 196659178
41 CFH NM_000186.3(CFH): c.3207T> C (p.Ser1069=) single nucleotide variant Likely benign rs62641697 GRCh38 Chromosome 1, 196743525: 196743525
42 CFH NM_000186.3(CFH): c.3207T> C (p.Ser1069=) single nucleotide variant Likely benign rs62641697 GRCh37 Chromosome 1, 196712655: 196712655
43 CFH NM_000186.3(CFH): c.1204C> T (p.His402Tyr) single nucleotide variant Benign rs1061170 GRCh38 Chromosome 1, 196690107: 196690107
44 CFH NM_000186.3(CFH): c.1204C> T (p.His402Tyr) single nucleotide variant Benign rs1061170 GRCh37 Chromosome 1, 196659237: 196659237
45 CFH NM_000186.3(CFH): c.1428A> G (p.Gln476=) single nucleotide variant Likely benign rs34399588 GRCh38 Chromosome 1, 196713826: 196713826
46 CFH NM_000186.3(CFH): c.1428A> G (p.Gln476=) single nucleotide variant Likely benign rs34399588 GRCh37 Chromosome 1, 196682956: 196682956
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.3310+12T> C single nucleotide variant Uncertain significance rs757045842 GRCh37 Chromosome 1, 196712770: 196712770
49 CFH NM_000186.3(CFH): c.3427C> G (p.Gln1143Glu) single nucleotide variant Benign rs15809 GRCh38 Chromosome 1, 196745933: 196745933
50 CFH NM_000186.3(CFH): c.3427C> G (p.Gln1143Glu) single nucleotide variant Benign rs15809 GRCh37 Chromosome 1, 196715063: 196715063

Expression for Basal Laminar Drusen

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

Pathways for Basal Laminar Drusen

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 9.35 CFH COL15A1 FBLN5 FGL1 HMCN1
3 basement membrane GO:0005604 9.16 COL15A1 HMCN1
4 extracellular matrix GO:0031012 8.8 COL15A1 FBLN5 HMCN1

Sources for Basal Laminar 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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