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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

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Disease Browser
Parent Node: Retinal Dystrophies (D058499)
..Starting node ..Patterned dystrophy of retinal pigment epithelium (C536309)
Child Nodes:
Sister Nodes:
..Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850)
..CONE-ROD DYSTROPHY 15 (OMIM:613660)
..CONE-ROD DYSTROPHY 9 (OMIM:612775)
..CONE-ROD DYSTROPHY, X-LINKED, 1 (OMIM:304020)
..Ghose Sachdev Kumar syndrome (C537803)
..Patterned dystrophy of retinal pigment epithelium (C536309)
..Reticular Dystrophy Of Retinal Pigment Epithelium (C566721)
..Retinal Dystrophy, Early Onset Severe (C565741)
..Retinal Dystrophy, Reticular Pigmentary, of Posterior Pole (C564844)
..Retinitis Pigmentosa (D012174) 132
..Retinopathy, Pericentral Pigmentary, Dominant (C566713)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8723

Name:

Patterned dystrophy of retinal pigment epithelium

Definition:

Alternative IDs:

OMIM:169150|OMIM:608970

ParentIDs:

MESH:D058499

TreeNumbers:

C11.768.585.658/C536309

Synonyms:

Butterfly dystrophy of retinal pigment epithelium |Butterfly-shaped pigment dystrophy of the fovea |Macular dystrophy, butterfly-shaped pigmentary |Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 |MACULAR DYSTROPHY, PATTERNED, 1 |MACULAR DYSTROPHY, PATTERNE

Slim Mappings:

Eye disease

Reference:

MedGen: C536309
MeSH: C536309
OMIM: 169150;

Genes: PRPH2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0025148	Dark choroid	HP:0040283
3	HP:0007754	Macular dystrophy
4	HP:0012508	Metamorphopsia	HP:0040283
5	HP:0000662	Nyctalopia	HP:0040283
6	HP:0000613	Photophobia	HP:0040283
7	HP:0007913	Reticular retinal dystrophy

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_000322.4(PRPH2):c.897_898delTG (p.Ser301Argfs)	5961	PRPH2	Pathogenic	61748429	RCV000014057; RCV000085029;	N	MedGen:C1868569,OMIM:169150,ORPHA:63454; MedGen:CN221809	6	42666176	42666177	NM_000322.4:c.897_898delTG	NP_000313.2:p.Ser301Argfs	NC_000006.11:g.42666176_42666177delCA	OMIM Allelic Variant:179605.0010	CN221809 not provided; C1868569 169150 Patterned dystrophy of retinal pigment epithelium
NM_000322.4(PRPH2):c.637T>C (p.Cys213Arg)	5961	PRPH2	Pathogenic	61755802	RCV000149468; RCV000085002; RCV000149469;	N	MedGen:C1868569,OMIM:169150,ORPHA:63454; MedGen:CN221809; MedGen:CN224078	6	42672294	42672294	NM_000322.4:c.637T>C	NP_000313.2:p.Cys213Arg	NC_000006.11:g.42672294A>G	OMIM Allelic Variant:179605.0023	CN224078 Leber congenital amaurosis 18; CN221809 not provided; C1868569 169150 Patterned dystrophy of retinal pigment epithelium
NM_000322.4(PRPH2):c.554T>C (p.Leu185Pro)	5961	PRPH2	Pathogenic	121918563	RCV000014051; RCV000149466; RCV000084987; RCV000149464;	N	MedGen:C1868569,OMIM:169150,ORPHA:63454; MedGen:C2675552; MedGen:CN221809; MedGen:CN224078	6	42689519	42689519	NM_000322.4:c.554T>C	NP_000313.2:p.Leu185Pro	NC_000006.11:g.42689519A>G	OMIM Allelic Variant:179605.0004	CN224078 Leber congenital amaurosis 18; CN221809 not provided; C1868569 169150 Patterned dystrophy of retinal pigment epithelium; C2675552 Retinitis pigmentosa 7, digenic
NM_000322.4(PRPH2):c.500G>A (p.Gly167Asp)	5961	PRPH2	Pathogenic	61755789	RCV000014055; RCV000084977;	N	MedGen:C1868569,OMIM:169150,ORPHA:63454; MedGen:CN221809	6	42689573	42689573	NM_000322.4:c.500G>A	NP_000313.2:p.Gly167Asp	NC_000006.11:g.42689573C>T	OMIM Allelic Variant:179605.0009	CN221809 not provided; C1868569 169150 Patterned dystrophy of retinal pigment epithelium
NM_000322.4(PRPH2):c.461_463delAGA (p.Lys154del)	5961	PRPH2	Pathogenic	61755786	RCV000014064; RCV000149467; RCV000084974;	N	MedGen:C1842475,OMIM:608133; MedGen:C1868569,OMIM:169150,ORPHA:63454; MedGen:CN221809	6	42689610	42689612	NM_000322.4:c.461_463delAGA	NP_000313.2:p.Lys154del	NC_000006.11:g.42689610_42689612delTCT	OMIM Allelic Variant:179605.0017	CN221809 not provided; C1868569 169150 Patterned dystrophy of retinal pigment epithelium; C1842475 608133 Retinitis pigmentosa 7
NM_000322.4(PRPH2):c.422A>G (p.Tyr141Cys)	5961	PRPH2	Pathogenic	61755781	RCV000161144; RCV000161145; RCV000084969;	N	MedGen:C1842914,OMIM:608161,ORPHA:99000; MedGen:C1868569,OMIM:169150,ORPHA:63454; MedGen:CN221809	6	42689651	42689651	NM_000322.4:c.422A>G	NP_000313.2:p.Tyr141Cys	NC_000006.11:g.42689651T>C	OMIM Allelic Variant:179605.0024	C1842914 608161 Macular dystrophy, vitelliform, adult-onset; CN221809 not provided; C1868569 169150 Patterned dystrophy of retinal pigment epithelium
NM_000322.4(PRPH2):c.418_421dupTACT (p.Tyr141Leufs)	5961	PRPH2	Pathogenic	672601326	RCV000014060;	N	MedGen:C1868569,OMIM:169150,ORPHA:63454	6	42689652	42689655	NM_000322.4:c.418_421dupTACT	NP_000313.2:p.Tyr141Leufs	NC_000006.11:g.42689652_42689655dupAGTA	OMIM Allelic Variant:179605.0013	C1868569 169150 Patterned dystrophy of retinal pigment epithelium