MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
Parent Node:
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Hypotrichosis (D007039)
Parent Node:
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Macular Degeneration (D008268)
..Starting node
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Juvenile macular degeneration and hypotrichosis (C537698)

       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:6576
Name:Juvenile macular degeneration and hypotrichosis
Definition:
Alternative IDs:OMIM:601553
ParentIDs:MESH:D007039|MESH:D008268
TreeNumbers:C11.768.585.439/C537698 |C17.800.329.937/C537698
Synonyms:HJMD |Hypotrichosis, congenital, with juvenile macular dystrophy |Hypotrichosis With Cone-Rod Dystrophy |Juvenile macular dystrophy and congenital hypotrichosis
Slim Mappings:Eye disease|Skin disease
Reference: MedGen: C537698
MeSH: C537698
OMIM: 601553;
MSeqDR LSDB:  
Genes: CDH3;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000164Abnormality of the dentition
3 HP:0001597Abnormality of the nail
4 HP:0000618Blindness
5 HP:0000548Cone/cone-rod dystrophy
6 HP:0001006Hypotrichosis
7 HP:0007754Macular dystrophy
8 HP:0003777Pili torti
9 HP:0007663Reduced visual acuity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001793.6(CDH3):c.160+117G>A1001CDH3Benign-1RCV001554732|RCV001554733|RCV001709742; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553, Orphanet:1573|MedGen:CN517202166867977068679770GA68679770-
NM_001793.6(CDH3):c.247-38A>G1001CDH3Benignrs1952048RCV000836748|RCV001554734|RCV001554735; NMedGen:CN517202|MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553, Orphanet:1573166871199968711999AG16:g.68711999A>G-
NM_001793.6(CDH3):c.390+37T>C1001CDH3Benignrs2296410RCV001554736|RCV001554737|RCV000836652; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553, Orphanet:1573|MedGen:CN517202166871221768712217TC16:g.68712217T>C-
NM_001793.6(CDH3):c.720G>A (p.Thr240=)1001CDH3Benignrs2296409RCV000299306|RCV000836363|RCV001554738; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MedGen:CN517202|MONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553, Orphanet:1573166871373068713730GANC_000016.9:g.68713730G>AClinGen:CA8129132C1857041 225280 EEM syndrome;
NM_001793.6(CDH3):c.813C>A (p.Thr271=)1001CDH3Benignrs2296408RCV000259290|RCV000836653|RCV001554863; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MedGen:CN517202|MONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553, Orphanet:1573166871382368713823CANC_000016.9:g.68713823C>AClinGen:CA8129150C1857041 225280 EEM syndrome;
NM_001793.6(CDH3):c.981del (p.Met327fs)1001CDH3Pathogenicrs724159984RCV000019205|RCV001002926; NMONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553, Orphanet:1573|166871498468714984TGTNC_000016.9:g.68714984delClinGen:CA127315,OMIM:114021.0001
NM_001793.6(CDH3):c.1063G>T (p.Asp355Tyr)1001CDH3Pathogenicrs1597809479RCV000824812; NMONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553, Orphanet:1573166871627168716271GT16:g.68716271G>T-
NM_001793.6(CDH3):c.1508G>A (p.Arg503His)1001CDH3Pathogenicrs121434542RCV000019206|RCV001386870; NMONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553, Orphanet:1573|MedGen:CN517202166871919168719191GA16:g.68719191G>AClinGen:CA127316,UniProtKB:P22223#VAR_015422,OMIM:114021.0002C1832162 601553 Juvenile macular degeneration and hypotrichosis;
NM_001793.6(CDH3):c.1626T>C (p.Asn542=)1001CDH3Benignrs2296405RCV000336277|RCV000836654|RCV001554864; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MedGen:CN517202|MONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553, Orphanet:1573166872147068721470TCNC_000016.9:g.68721470T>CClinGen:CA8129427C1857041 225280 EEM syndrome;
NM_001793.6(CDH3):c.1795+1G>C1001CDH3Pathogenicrs752131891RCV000824709; NMONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553, Orphanet:1573166872164068721640GC16:g.68721640G>C-
NM_001793.6(CDH3):c.1918T>G (p.Cys640Gly)1001CDH3Likely pathogenicrs1597817636RCV000985062; NMONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553, Orphanet:1573166872574568725745TG16:g.68725745T>G-
NM_001793.6(CDH3):c.1956G>A (p.Lys652=)1001CDH3Benignrs2274239RCV000268784|RCV000836655|RCV001554865; NMONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MedGen:CN517202|MONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553, Orphanet:1573166872578368725783GANC_000016.9:g.68725783G>AClinGen:CA8129518C1857041 225280 EEM syndrome;
NM_001793.6(CDH3):c.2239C>A (p.Arg747=)1001CDH3Benignrs17715450RCV000079721|RCV000277967|RCV000841447|RCV001554866; NMedGen:CN169374|MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MedGen:CN517202|MONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553, Orphanet:1573166872978568729785CANC_000016.9:g.68729785C>AClinGen:CA147289C1857041 225280 EEM syndrome;
NM_001793.6(CDH3):c.2281-45A>C1001CDH3Benign-1RCV001554868|RCV001554867|RCV001685530; NMONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553, Orphanet:1573|MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897|MedGen:CN517202166873204968732049AC68732049-
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