MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Hypotrichosis (D007039)
Parent Node: Macular Degeneration (D008268)
..Starting node ..Juvenile macular degeneration and hypotrichosis (C537698)
Child Nodes:
Sister Nodes:
..Ectodermal dysplasia, ectrodactyly, and macular dystrophy (C536190)
..Fundus Dystrophy, Pseudoinflammatory, Of Sorsby (C564992)
..Geographic Atrophy (D057092)
..Juvenile macular degeneration and hypotrichosis (C537698)
..Macular Degeneration, Age-Related, 1 (C566411)
..Macular Degeneration, Age-Related, 10 (C566935)
..Macular Degeneration, Age-Related, 11 (C567450)
..MACULAR DEGENERATION, AGE-RELATED, 12 (OMIM:613784)
..MACULAR DEGENERATION, AGE-RELATED, 13 (OMIM:615439)
..MACULAR DEGENERATION, AGE-RELATED, 14 (OMIM:615489)
..MACULAR DEGENERATION, AGE-RELATED, 15 (OMIM:615591)
..Macular Degeneration, Age-Related, 2 (C562479)
..Macular Degeneration, Age-Related, 3 (C563838)
..Macular Degeneration, Age-Related, 4 (C565196)
..MACULAR DEGENERATION, AGE-RELATED, 5 (OMIM:613761)
..Macular Degeneration, Age-Related, 6 (C563674)
..Macular Degeneration, Age-Related, 7 (C565718)
..MACULAR DEGENERATION, AGE-RELATED, 8 (OMIM:613778)
..Macular Degeneration, Age-Related, 9 (C566958)
..MACULAR DEGENERATION, EARLY-ONSET (OMIM:616118)
..MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
..Macular dystrophy, concentric annular (C537833)
..MACULAR DYSTROPHY, RETINAL, 3 (OMIM:608850)
..Macular Dystrophy, X-Linked (C564110)
..Macular Edema (D008269)
..Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders (C565786)
..OCCULT MACULAR DYSTROPHY (OMIM:613587)
..Stargardt disease 1 (C535804)
..Stargardt disease 3 (C535805)
..Stargardt disease 4 (C535521)
..Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features (C548086)
..Vitelliform Macular Dystrophy (D057826) 2
..Wet 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 :
Genes: CDH3;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000164	Abnormality of the dentition
3	HP:0001597	Abnormality of the nail
4	HP:0000618	Blindness
5	HP:0000548	Cone/cone-rod dystrophy
6	HP:0001006	Hypotrichosis
7	HP:0007754	Macular dystrophy
8	HP:0003777	Pili torti
9	HP:0007663	Reduced visual acuity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001793.6(CDH3):c.160+117G>A	1001	CDH3	Benign	-1	RCV001554732\|RCV001554733\|RCV001709742;	N	MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897\|MONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553, Orphanet:1573\|MedGen:CN517202	16	68679770	68679770	G	A	68679770	-
NM_001793.6(CDH3):c.247-38A>G	1001	CDH3	Benign	rs1952048	RCV000836748\|RCV001554734\|RCV001554735;	N	MedGen:CN517202\|MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897\|MONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553, Orphanet:1573	16	68711999	68711999	A	G	16:g.68711999A>G	-
NM_001793.6(CDH3):c.390+37T>C	1001	CDH3	Benign	rs2296410	RCV001554736\|RCV001554737\|RCV000836652;	N	MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897\|MONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553, Orphanet:1573\|MedGen:CN517202	16	68712217	68712217	T	C	16:g.68712217T>C	-
NM_001793.6(CDH3):c.720G>A (p.Thr240=)	1001	CDH3	Benign	rs2296409	RCV000299306\|RCV000836363\|RCV001554738;	N	MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897\|MedGen:CN517202\|MONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553, Orphanet:1573	16	68713730	68713730	G	A	NC_000016.9:g.68713730G>A	ClinGen:CA8129132	C1857041 225280 EEM syndrome;
NM_001793.6(CDH3):c.813C>A (p.Thr271=)	1001	CDH3	Benign	rs2296408	RCV000259290\|RCV000836653\|RCV001554863;	N	MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897\|MedGen:CN517202\|MONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553, Orphanet:1573	16	68713823	68713823	C	A	NC_000016.9:g.68713823C>A	ClinGen:CA8129150	C1857041 225280 EEM syndrome;
NM_001793.6(CDH3):c.981del (p.Met327fs)	1001	CDH3	Pathogenic	rs724159984	RCV000019205\|RCV001002926;	N	MONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553, Orphanet:1573\|	16	68714984	68714984	TG	T	NC_000016.9:g.68714984del	ClinGen:CA127315,OMIM:114021.0001
NM_001793.6(CDH3):c.1063G>T (p.Asp355Tyr)	1001	CDH3	Pathogenic	rs1597809479	RCV000824812;	N	MONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553, Orphanet:1573	16	68716271	68716271	G	T	16:g.68716271G>T	-
NM_001793.6(CDH3):c.1508G>A (p.Arg503His)	1001	CDH3	Pathogenic	rs121434542	RCV000019206\|RCV001386870;	N	MONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553, Orphanet:1573\|MedGen:CN517202	16	68719191	68719191	G	A	16:g.68719191G>A	ClinGen:CA127316,UniProtKB:P22223#VAR_015422,OMIM:114021.0002	C1832162 601553 Juvenile macular degeneration and hypotrichosis;
NM_001793.6(CDH3):c.1626T>C (p.Asn542=)	1001	CDH3	Benign	rs2296405	RCV000336277\|RCV000836654\|RCV001554864;	N	MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897\|MedGen:CN517202\|MONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553, Orphanet:1573	16	68721470	68721470	T	C	NC_000016.9:g.68721470T>C	ClinGen:CA8129427	C1857041 225280 EEM syndrome;
NM_001793.6(CDH3):c.1795+1G>C	1001	CDH3	Pathogenic	rs752131891	RCV000824709;	N	MONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553, Orphanet:1573	16	68721640	68721640	G	C	16:g.68721640G>C	-
NM_001793.6(CDH3):c.1918T>G (p.Cys640Gly)	1001	CDH3	Likely pathogenic	rs1597817636	RCV000985062;	N	MONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553, Orphanet:1573	16	68725745	68725745	T	G	16:g.68725745T>G	-
NM_001793.6(CDH3):c.1956G>A (p.Lys652=)	1001	CDH3	Benign	rs2274239	RCV000268784\|RCV000836655\|RCV001554865;	N	MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897\|MedGen:CN517202\|MONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553, Orphanet:1573	16	68725783	68725783	G	A	NC_000016.9:g.68725783G>A	ClinGen:CA8129518	C1857041 225280 EEM syndrome;
NM_001793.6(CDH3):c.2239C>A (p.Arg747=)	1001	CDH3	Benign	rs17715450	RCV000079721\|RCV000277967\|RCV000841447\|RCV001554866;	N	MedGen:CN169374\|MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897\|MedGen:CN517202\|MONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553, Orphanet:1573	16	68729785	68729785	C	A	NC_000016.9:g.68729785C>A	ClinGen:CA147289	C1857041 225280 EEM syndrome;
NM_001793.6(CDH3):c.2281-45A>C	1001	CDH3	Benign	-1	RCV001554868\|RCV001554867\|RCV001685530;	N	MONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553, Orphanet:1573\|MONDO:MONDO:0009155,MedGen:C1857041,OMIM:225280, Orphanet:1897\|MedGen:CN517202	16	68732049	68732049	A	C	68732049	-

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