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Disease Browser
Parent Node:
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Macular Degeneration (D008268)
..Starting node
..expand
Macular Degeneration, Age-Related, 3 (C563838)

       Child Nodes:



 Sister Nodes: 
..expandEctodermal dysplasia, ectrodactyly, and macular dystrophy (C536190)
..expandFundus Dystrophy, Pseudoinflammatory, Of Sorsby (C564992)
..expandGeographic Atrophy (D057092)
..expandJuvenile macular degeneration and hypotrichosis (C537698)
..expandMacular Degeneration, Age-Related, 1 (C566411)
..expandMacular Degeneration, Age-Related, 10 (C566935)
..expandMacular Degeneration, Age-Related, 11 (C567450)
..expandMACULAR DEGENERATION, AGE-RELATED, 12 (OMIM:613784)
..expandMACULAR DEGENERATION, AGE-RELATED, 13 (OMIM:615439)
..expandMACULAR DEGENERATION, AGE-RELATED, 14 (OMIM:615489)
..expandMACULAR DEGENERATION, AGE-RELATED, 15 (OMIM:615591)
..expandMacular Degeneration, Age-Related, 2 (C562479)
..expandMacular Degeneration, Age-Related, 3 (C563838)
..expandMacular Degeneration, Age-Related, 4 (C565196)
..expandMACULAR DEGENERATION, AGE-RELATED, 5 (OMIM:613761)
..expandMacular Degeneration, Age-Related, 6 (C563674)
..expandMacular Degeneration, Age-Related, 7 (C565718)
..expandMACULAR DEGENERATION, AGE-RELATED, 8 (OMIM:613778)
..expandMacular Degeneration, Age-Related, 9 (C566958)
..expandMACULAR DEGENERATION, EARLY-ONSET (OMIM:616118)
..expandMACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
..expandMacular dystrophy, concentric annular (C537833)
..expandMACULAR DYSTROPHY, RETINAL, 3 (OMIM:608850)
..expandMacular Dystrophy, X-Linked (C564110)
..expandMacular Edema (D008269)
..expandMyoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders (C565786)
..expandOCCULT MACULAR DYSTROPHY (OMIM:613587)
..expandStargardt disease 1 (C535804)
..expandStargardt disease 3 (C535805)
..expandStargardt disease 4 (C535521)
..expandStargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features (C548086)
..expandVitelliform Macular Dystrophy (D057826) Child2
..expandWet Macular Degeneration (D057135)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7321
Name:Macular Degeneration, Age-Related, 3
Definition:
Alternative IDs:OMIM:608895
ParentIDs:MESH:D008268
TreeNumbers:C11.768.585.439/C563838
Synonyms:ARMD3, INCLUDED |HNARMD |MACULAR DEGENERATION, AGE-RELATED, 3, INCLUDED |NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
Slim Mappings:Eye disease
Reference: MedGen: C563838
MeSH: C563838
OMIM: 608895;
MSeqDR LSDB:  
Genes: FBLN5; SUCLG1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0007868Age-related macular degenerationHP:0040284
3 HP:0011506Choroidal neovascularization
4 HP:0000762Decreased nerve conduction velocityHP:0040283
5 HP:0011808Decreased patellar reflexHP:0040284
6 HP:0003693Distal amyotrophyHP:0040284
7 HP:0002460Distal muscle weakness
NAMDC:  Muscle weakness: distal
HP:0040284
8 HP:0002936Distal sensory impairmentHP:0040281
9 HP:0011510Drusen
10 HP:0000974Hyperextensible skinHP:0040284
11 HP:0001382Joint hypermobilityHP:0040284
12 HP:0003477Peripheral axonal neuropathy
NAMDC:  Neuropathy axonal
HP:0040284
13 HP:0001761Pes cavus
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_006329.3(FBLN5):c.1235G>A (p.Gly412Glu)10516FBLN5Pathogenic121434303RCV000005817; NMedGen:C4225406,OMIM:608895149233668092336680OMIM Allelic Variant:604580.0009,UniProtKB (protein):Q9UBX5#VAR_019820C1837187 608895 Age-related macular degeneration 3;
NM_006329.3(FBLN5):c.1183C>T (p.Arg395Trp)10516FBLN5Uncertain significance372650987RCV000477790; RCV000477790; RCV000477790; NMedGen:C4225406,OMIM:608895; MedGen:CN033664,OMIM:219100; MedGen:C3280794,OMIM:614434149234383392343833-C1837187 608895 Age-related macular degeneration 3;
NM_006329.3(FBLN5):c.1117C>T (p.Arg373Cys)10516FBLN5Likely pathogenic864309526RCV000202609; RCV000756132; NMedGen:C4225406,OMIM:608895; MedGen:CN517202149234389992343899OMIM Allelic Variant:604580.0012,UniProtKB (protein):Q9UBX5#VAR_076291C1837187 608895 Age-related macular degeneration 3;
NM_006329.3(FBLN5):c.1087G>A (p.Ala363Thr)10516FBLN5Pathogenic121434302RCV000005816; NMedGen:C4225406,OMIM:608895149234392992343929OMIM Allelic Variant:604580.0008,UniProtKB (protein):Q9UBX5#VAR_019819C1837187 608895 Age-related macular degeneration 3;
NM_006329.3(FBLN5):c.1051C>T (p.Arg351Trp)10516FBLN5Pathogenic28939073RCV000005815; NMedGen:C4225406,OMIM:608895149234396592343965OMIM Allelic Variant:604580.0007,UniProtKB (protein):Q9UBX5#VAR_019818C1837187 608895 Age-related macular degeneration 3;
NM_006329.3(FBLN5):c.506T>C (p.Ile169Thr)10516FBLN5Pathogenic28939072RCV000005814; NMedGen:C4225406,OMIM:608895149235767892357678OMIM Allelic Variant:604580.0006,UniProtKB (protein):Q9UBX5#VAR_019817C1837187 608895 Age-related macular degeneration 3;
NM_006329.3(FBLN5):c.376G>A (p.Val126Met)10516FBLN5Conflicting interpretations of pathogenicity61734479RCV000202603; RCV000405354; RCV000351722; RCV000584853; RCV000506503; NMedGen:C4225406,OMIM:608895; MedGen:CN239277; Human Phenotype Ontology:HP:0000608,MedGen:C0024437,SNOMED CT:422338006; MedGen:CN517202; MedGen:CN169374149240329492403294OMIM Allelic Variant:604580.0014,UniProtKB (protein):Q9UBX5#VAR_072390C1837187 608895 Age-related macular degeneration 3;
NM_006329.3(FBLN5):c.268G>A (p.Gly90Ser)10516FBLN5Conflicting interpretations of pathogenicity144288844RCV000202614; RCV000288309; RCV000521928; NMedGen:C4225406,OMIM:608895; Human Phenotype Ontology:HP:0000608,MedGen:C0024437,SNOMED CT:422338006; MedGen:CN517202149240340292403402OMIM Allelic Variant:604580.0013,UniProtKB (protein):Q9UBX5#VAR_076290C1837187 608895 Age-related macular degeneration 3;
NM_006329.3(FBLN5):c.259C>T (p.Pro87Ser)10516FBLN5Pathogenic121434301RCV000005813; NMedGen:C4225406,OMIM:608895149240341192403411OMIM Allelic Variant:604580.0005,UniProtKB (protein):Q9UBX5#VAR_019816C1837187 608895 Age-related macular degeneration 3;
NM_006329.3(FBLN5):c.212G>A (p.Arg71Gln)10516FBLN5Pathogenic121434300RCV000005812; NMedGen:C4225406,OMIM:608895149240345892403458OMIM Allelic Variant:604580.0004,UniProtKB (protein):Q9UBX5#VAR_019815C1837187 608895 Age-related macular degeneration 3;
NM_006329.3(FBLN5):c.178G>C (p.Val60Leu)10516FBLN5Pathogenic121434299RCV000005811; NMedGen:C4225406,OMIM:608895149240349292403492OMIM Allelic Variant:604580.0003,UniProtKB (protein):Q9UBX5#VAR_019814C1837187 608895 Age-related macular degeneration 3;
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