Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Usher Syndromes (D052245)
..Starting node ..Usher syndrome, type 1D (C536487)
Child Nodes:
Sister Nodes:
..Usher syndrome, type 1B (C536485)
..Usher syndrome, type 1C (C536486)
..Usher syndrome, type 1D (C536487)
..Usher syndrome, type 1E (C536488)
..Usher syndrome, type 1F (C536489)
..Usher syndrome, type 2A (C536490)
..Usher syndrome, type 2B (C536491)
..Usher syndrome, type 2C (C536492)
..Usher Syndrome, Type Ib (C564755)
..Usher Syndrome, Type IC (C564753)
..Usher Syndrome, Type ID (C563400)
..Usher Syndrome, Type ID/F (C567409)
..Usher Syndrome, Type IE (C566577)
..Usher Syndrome, Type IF (C566586)
..Usher Syndrome, Type IG (C564643)
..Usher Syndrome, Type IH (C567227)
..USHER SYNDROME, TYPE IID (OMIM:611383)
..USHER SYNDROME, TYPE IIIA (OMIM:276902)
..USHER SYNDROME, TYPE IJ (OMIM:614869)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11446

Name:

Usher syndrome, type 1D

Definition:

Alternative IDs:

OMIM:601067

ParentIDs:

MESH:D052245

TreeNumbers:

C09.218.458.341.186.500.500/C536487 |C09.218.458.341.887.886/C536487 |C10.597.751.418.341.186.500.500/C536487 |C10.597.751.418.341.887.886/C536487 |C10.597.751.941.162.625.500/C536487 |C11.768.585.658.500.813/C536487 |C11.966.075.375.500/C536487 |C16.131.077.29

Synonyms:

USH1D |USH1D/F, CDH23/PCDH15, DIGENIC, INCLUDED |USHER SYNDROME, TYPE ID |USHER SYNDROME, TYPE ID/F, CDH23/PCDH15, DIGENIC, INCLUDED

Slim Mappings:

Reference:

MedGen: C536487
MeSH: C536487
OMIM: 601067;

Genes: CDH23; PCDH15;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000365	Hearing impairment
3	HP:0000510	Rod-cone dystrophy
4	HP:0001751	Vestibular dysfunction

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_022124.5(CDH23):c.146-2A>G	-1	-	Pathogenic	794727649	RCV000178332;	N	MedGen:C1832845,OMIM:601067	10	73269837	73269837	NM_022124.5:c.146-2A>G		NC_000010.10:g.73269837A>G	-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.193delC (p.Leu65Trpfs)	-1	-	Pathogenic	796051861	RCV000005207; RCV000005208; RCV000215123;	N	MedGen:C1568247,OMIM:276900; MedGen:C1832845,OMIM:601067; MedGen:C3276419	10	73269886	73269886	NM_022124.5:c.193delC	NP_071407.4:p.Leu65Trpfs	NC_000010.10:g.73269886delC	OMIM Allelic Variant:605516.0011	C1568247 276900 Usher syndrome, type 1; C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.3481C>T (p.Arg1161Ter)	-1	-	Pathogenic	397517323	RCV000039153;	N	MedGen:C1832845,OMIM:601067	10	73485179	73485179	NM_022124.5:c.3481C>T	NP_071407.4:p.Arg1161Ter	NC_000010.10:g.73485179C>T	-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.3625A>G (p.Thr1209Ala)	-1	-	Benign;Pathogenic;Uncertain significance	41281314	RCV000005210; RCV000217147; RCV000086973; RCV000039159;	N	MedGen:C1568247,OMIM:276900; MedGen:C1832845,OMIM:601067; MedGen:CN169374; MedGen:CN221809	10	73490271	73490271	NM_022124.5:c.3625A>G	NP_071407.4:p.Thr1209Ala	NC_000010.10:g.73490271A>G	OMIM Allelic Variant:605516.0013	CN221809 not provided; CN169374 not specified; C1568247 276900 Usher syndrome, type 1; C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.3628C>T (p.Gln1210Ter)	-1	-	Pathogenic	397517326	RCV000039160;	N	MedGen:C1832845,OMIM:601067	10	73490274	73490274	NM_022124.5:c.3628C>T	NP_071407.4:p.Gln1210Ter	NC_000010.10:g.73490274C>T	-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.3706C>T (p.Arg1236Ter)	-1	-	Pathogenic	397517327	RCV000039163;	N	MedGen:C1832845,OMIM:601067	10	73490352	73490352	NM_022124.5:c.3706C>T	NP_071407.4:p.Arg1236Ter	NC_000010.10:g.73490352C>T	-	C1832845 601067 Usher syndrome, type 1D
NC_000010.11:g.(?_71731987)_(71734281_?)del	-1	-	Pathogenic	-1	RCV000156137;	N	MedGen:C1832845,OMIM:601067	10	73491744	73494038	-	-		-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.3842_3844delTGA (p.Met1281del)	-1	-	Pathogenic	796051860	RCV000005199;	N	MedGen:C1832845,OMIM:601067	10	73491870	73491872	NM_022124.5:c.3842_3844delTGA	NP_071407.4:p.Met1281del	NC_000010.10:g.73491870_73491872delTGA	OMIM Allelic Variant:605516.0003	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.3880C>T (p.Gln1294Ter)	-1	-	Pathogenic	121908350	RCV000005203;	N	MedGen:C1832845,OMIM:601067	10	73491908	73491908	NM_022124.5:c.3880C>T	NP_071407.4:p.Gln1294Ter	NC_000010.10:g.73491908C>T	OMIM Allelic Variant:605516.0007	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.3929C>A (p.Ala1310Asp)	-1	-	Uncertain significance	483353051	RCV000119815;	N	MedGen:C1832845,OMIM:601067	10	73491957	73491957	NM_022124.5:c.3929C>A	NP_071407.4:p.Ala1310Asp	NC_000010.10:g.73491957C>A	-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.4104+4A>T	-1	-	Uncertain significance	483353052	RCV000119816;	N	MedGen:C1832845,OMIM:601067	10	73492136	73492136	NM_022124.5:c.4104+4A>T		NC_000010.10:g.73492136A>T	-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.4209+1G>T	-1	-	Pathogenic	727503841	RCV000177808; RCV000152948;	N	MedGen:C1832845,OMIM:601067; MedGen:CN221809	10	73494416	73494416	NM_022124.5:c.4209+1G>T		NC_000010.10:g.73494416G>T	-	CN221809 not provided; C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.46delG (p.Val16Cysfs)	64072	CDH23	Pathogenic	397517331	RCV000039188;	N	MedGen:C1832845,OMIM:601067	10	73199634	73199634	NM_022124.5:c.46delG	NP_071407.4:p.Val16Cysfs	NC_000010.10:g.73199634delG	-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.945+1G>T	64072	CDH23	Pathogenic	727502919	RCV000150272;	N	MedGen:C1832845,OMIM:601067	10	73375374	73375374	NM_022124.5:c.945+1G>T		NC_000010.10:g.73375374G>T	-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.1369C>T (p.Arg457Trp)	64072	CDH23	Likely pathogenic	727504455	RCV000155432;	N	MedGen:C1832845,OMIM:601067	10	73406294	73406294	NM_022124.5:c.1369C>T	NP_071407.4:p.Arg457Trp	NC_000010.10:g.73406294C>T	-	C1832845 601067 Usher syndrome, type 1D
NM_052836.3(CDH23):c.1450G>T (p.Val484Leu)	64072	CDH23	Pathogenic	-1	RCV000215736;	N	MedGen:C1832845,OMIM:601067	10	73406375	73406375	NM_052836.3:c.1450G>T	NP_443068.1:p.Val484Leu		-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.1949dupC (p.Leu651Serfs)	64072	CDH23	Pathogenic	-1	RCV000218031;	N	MedGen:C1832845,OMIM:601067	10	73442292	73442292	NM_022124.5:c.1949dupC	NP_071407.4:p.Leu651Serfs		-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.2012delT (p.Phe671Serfs)	64072	CDH23	Pathogenic	397517313	RCV000039119;	N	MedGen:C1832845,OMIM:601067	10	73447429	73447429	NM_022124.5:c.2012delT	NP_071407.4:p.Phe671Serfs	NC_000010.10:g.73447429delT	-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.2701G>A (p.Glu901Lys)	64072	CDH23	Likely pathogenic	-1	RCV000220607;	N	MedGen:C1832845,OMIM:601067	10	73462419	73462419	NM_022124.5:c.2701G>A	NP_071407.4:p.Glu901Lys		-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.4309C>T (p.Arg1437Ter)	64072	CDH23	Pathogenic	397517329	RCV000039177;	N	MedGen:C1832845,OMIM:601067	10	73498354	73498354	NM_022124.5:c.4309C>T	NP_071407.4:p.Arg1437Ter	NC_000010.10:g.73498354C>T	-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.4488G>C (p.Gln1496His)	64072	CDH23	Pathogenic	121908347	RCV000005197;	N	MedGen:C1832845,OMIM:601067	10	73499529	73499529	NM_022124.5:c.4488G>C	NP_071407.4:p.Gln1496His	NC_000010.10:g.73499529G>C	OMIM Allelic Variant:605516.0001	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.5237G>A (p.Arg1746Gln)	64072	CDH23	Pathogenic	111033270	RCV000005198;	N	MedGen:C1832845,OMIM:601067	10	73539073	73539073	NM_022124.5:c.5237G>A	NP_071407.4:p.Arg1746Gln	NC_000010.10:g.73539073G>A	OMIM Allelic Variant:605516.0002	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.5272C>T (p.Gln1758Ter)	64072	CDH23	Pathogenic	397517337	RCV000039207;	N	MedGen:C1832845,OMIM:601067	10	73539108	73539108	NM_022124.5:c.5272C>T	NP_071407.4:p.Gln1758Ter	NC_000010.10:g.73539108C>T	-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.5712G>A (p.Thr1904=)	64072	CDH23	Pathogenic	397517342	RCV000039224;	N	MedGen:C1832845,OMIM:601067	10	73544857	73544857	NM_022124.5:c.5712G>A	NP_071407.4:p.Thr1904=	NC_000010.10:g.73544857G>A	-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.5712+1G>A	64072	CDH23	Pathogenic	397517341	RCV000039223;	N	MedGen:C1832845,OMIM:601067	10	73544858	73544858	NM_022124.5:c.5712+1G>A		NC_000010.10:g.73544858G>A	-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.5923+1G>A	64072	CDH23	Pathogenic	397517346	RCV000039230;	N	MedGen:C1832845,OMIM:601067	10	73548800	73548800	NM_022124.5:c.5923+1G>A		NC_000010.10:g.73548800G>A	-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.6049G>A (p.Gly2017Ser)	64072	CDH23	Likely pathogenic	183431253	RCV000039235;	N	MedGen:C1832845,OMIM:601067	10	73550170	73550170	NM_022124.5:c.6049G>A	NP_071407.4:p.Gly2017Ser	NC_000010.10:g.73550170G>A	-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.6049+1G>A	64072	CDH23	Pathogenic	111033247	RCV000039234;	N	MedGen:C1832845,OMIM:601067	10	73550171	73550171	NM_022124.5:c.6049+1G>A		NC_000010.10:g.73550171G>A	-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.6050-9G>A	64072	CDH23	Pathogenic	367928692	RCV000039236;	N	MedGen:C1832845,OMIM:601067	10	73550880	73550880	NM_022124.5:c.6050-9G>A		NC_000010.10:g.73550880G>A	-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.6412delG (p.Glu2138Serfs)	64072	CDH23	Likely pathogenic	111033473	RCV000039244;	N	MedGen:C1832845,OMIM:601067	10	73553097	73553097	NM_022124.5:c.6412delG	NP_071407.4:p.Glu2138Serfs	NC_000010.10:g.73553097delG	-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.6968delC (p.Pro2323Leufs)	64072	CDH23	Pathogenic	397517350	RCV000039259;	N	MedGen:C1832845,OMIM:601067	10	73558249	73558249	NM_022124.5:c.6968delC	NP_071407.4:p.Pro2323Leufs	NC_000010.10:g.73558249delC	-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.7362G>A (p.Thr2454=)	64072	CDH23	Likely pathogenic	370983472	RCV000039265;	N	MedGen:C1832845,OMIM:601067	10	73559386	73559386	NM_022124.5:c.7362G>A	NP_071407.4:p.Thr2454=	NC_000010.10:g.73559386G>A	-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.7362+5G>A	64072	CDH23	Pathogenic	727502931	RCV000005200;	N	MedGen:C1832845,OMIM:601067	10	73559391	73559391	NM_022124.5:c.7362+5G>A		NC_000010.10:g.73559391G>A	OMIM Allelic Variant:605516.0004	C1832845 601067 Usher syndrome, type 1D
NG_008835.1:g.410951G>C	64072	CDH23	Pathogenic	-1	RCV000221407;	N	MedGen:C1832845,OMIM:601067	10	73562654	73562654	NM_022124.5:c.7483-1G>C			-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.7776G>A (p.Trp2592Ter)	64072	CDH23	Pathogenic	397517353	RCV000039275;	N	MedGen:C1832845,OMIM:601067	10	73563081	73563081	NM_022124.5:c.7776G>A	NP_071407.4:p.Trp2592Ter	NC_000010.10:g.73563081G>A	-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.7873-2A>T	64072	CDH23	Pathogenic	727502933	RCV000150322;	N	MedGen:C1832845,OMIM:601067	10	73565561	73565561	NM_022124.5:c.7873-2A>T		NC_000010.10:g.73565561A>T	-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.7921G>C (p.Asp2641His)	64072	CDH23	Likely pathogenic	397517354	RCV000039277;	N	MedGen:C1832845,OMIM:601067	10	73565611	73565611	NM_022124.5:c.7921G>C	NP_071407.4:p.Asp2641His	NC_000010.10:g.73565611G>C	-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.7979_7986delACTGGGAG (p.Asp2660Valfs)	64072	CDH23	Pathogenic	727504761	RCV000156071;	N	MedGen:C1832845,OMIM:601067	10	73565669	73565676	NM_022124.5:c.7979_7986delACTGGGAG	NP_071407.4:p.Asp2660Valfs	NC_000010.10:g.73565669_73565676delACTGGGAG	-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.8781C>A (p.Tyr2927Ter)	64072	CDH23	Pathogenic	397517362	RCV000039289;	N	MedGen:C1832845,OMIM:601067	10	73569635	73569635	NM_022124.5:c.8781C>A	NP_071407.4:p.Tyr2927Ter	NC_000010.10:g.73569635C>A	-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.9510+19_9510+25delGGCATCA	64072	CDH23	Uncertain significance	483353053	RCV000119817;	N	MedGen:C1832845,OMIM:601067	10	73572385	73572391	NM_022124.5:c.9510+19_9510+25delGGCATCA		NC_000010.10:g.73572385_73572391delGGCATCA	-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.9556C>T (p.Arg3186Ter)	64072	CDH23	Pathogenic	773464867	RCV000214408;	N	MedGen:C1832845,OMIM:601067	10	73572570	73572570	NM_022124.5:c.9556C>T	NP_071407.4:p.Arg3186Ter	NC_000010.10:g.73572570C>T	-	C1832845 601067 Usher syndrome, type 1D
NM_022124.5(CDH23):c.9629_9632delTCAA (p.Ile3210Argfs)	64072	CDH23	Pathogenic	397517367	RCV000039314;	N	MedGen:C1832845,OMIM:601067	10	73572643	73572646	NM_022124.5:c.9629_9632delTCAA	NP_071407.4:p.Ile3210Argfs	NC_000010.10:g.73572643_73572646delTCAA	-	C1832845 601067 Usher syndrome, type 1D
NM_001142763.1(PCDH15):c.2986C>T (p.Arg996Ter)	65217	PCDH15	Pathogenic	754391973	RCV000210315;	N	MedGen:C1832845,OMIM:601067	10	55721550	55721550	NM_001142763.1:c.2986C>T	NP_001136235.1:p.Arg996Ter	NC_000010.10:g.55721550G>A	-	C1832845 601067 Usher syndrome, type 1D