Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandEctodermal Dysplasia (D004476)
Parent Node:
expandHand Deformities, Congenital (D006228)
Parent Node:
expandMacular Degeneration (D008268)
..Starting node
..expandEctodermal dysplasia, ectrodactyly, and macular dystrophy (C536190)

       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, 2 (C562479)
..expandMacular Degeneration, Age-Related, 3 (C563838)
..expandMacular Degeneration, Age-Related, 4 (C565196)
..expandMacular Degeneration, Age-Related, 6 (C563674)
..expandMacular Degeneration, Age-Related, 7 (C565718)
..expandMacular Degeneration, Age-Related, 9 (C566958)
..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 (C580470)
..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, CTD
Term ID:3610
Name:Ectodermal dysplasia, ectrodactyly, and macular dystrophy
Definition:
Alternative IDs:OMIM:225280
ParentIDs:MESH:D004476|MESH:D006228|MESH:D008268
TreeNumbers:C05.390.408/C536190 |C05.660.585.988.425/C536190 |C11.768.585.439/C536190 |C16.131.077.350/C536190 |C16.131.621.585.425/C536190 |C16.131.831.350/C536190 |C16.320.850.250/C536190 |C17.800.804.350/C536190 |C17.800.827.250/C536190
Synonyms:ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME |Ectodermal Dysplasia-Ectrodactyly-Macular Dystrophy |EEMS |EEM Syndrome
Slim Mappings:Congenital abnormality|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Skin disease
Reference: MedGen: C536190
MeSH: C536190
OMIM: 225280;

Genes: CDH3;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0012385Camptodactyly
3 HP:0000968Ectodermal dysplasia
4 HP:0009473Joint contracture of the hand
5 HP:0007754Macular dystrophy
6 HP:0000691Microdontia
7 HP:0001592Selective tooth agenesis
8 HP:0000535Sparse and thin eyebrow
9 HP:0000653Sparse eyelashes
10 HP:0002209Sparse scalp hair
11 HP:0001171Split hand
12 HP:0001159Syndactyly
13 HP:0000687Widely spaced teeth
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_001793.5(CDH3):c.830delG (p.Gly277Alafs)1001CDH3Pathogenic724159985RCV000019208; NMedGen:C1857041,OMIM:225280,ORPHA:1897166871384068713840NM_001793.5:c.830delGNP_001784.2:p.Gly277AlafsNC_000016.9:g.68713840delGOMIM Allelic Variant:114021.0004C1857041 225280 EEM syndrome
NM_001793.5(CDH3):c.965A>T (p.Asn322Ile)1001CDH3Pathogenic121434543RCV000019207; NMedGen:C1857041,OMIM:225280,ORPHA:1897166871496868714968NM_001793.5:c.965A>TNP_001784.2:p.Asn322IleNC_000016.9:g.68714968A>TOMIM Allelic Variant:114021.0003C1857041 225280 EEM syndrome