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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

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

Disease Browser
Parent Node: Macular Degeneration (D008268)
..Starting node ..Fundus Dystrophy, Pseudoinflammatory, Of Sorsby (C564992)
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, 2 (C562479)
..Macular Degeneration, Age-Related, 3 (C563838)
..Macular Degeneration, Age-Related, 4 (C565196)
..Macular Degeneration, Age-Related, 6 (C563674)
..Macular Degeneration, Age-Related, 7 (C565718)
..Macular Degeneration, Age-Related, 9 (C566958)
..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 (C580470)
..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, CTD

Term ID:

4457

Name:

Fundus Dystrophy, Pseudoinflammatory, Of Sorsby

Definition:

Alternative IDs:

OMIM:136900

ParentIDs:

MESH:D008268

TreeNumbers:

C11.768.585.439/C564992

Synonyms:

Macular Dystrophy, Hemorrhagic |SFD

Slim Mappings:

Eye disease

Reference:

MedGen: C564992
MeSH: C564992
OMIM: 136900;

Genes: TIMP3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0007754	Macular 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_000362.4(TIMP3):c.484G>T (p.Glu162Ter)	-1	-	Pathogenic	137853302	RCV000013517;	N	MedGen:C1850938,OMIM:136900	22	33255212	33255212	NM_000362.4:c.484G>T	NP_000353.1:p.Glu162Ter	NC_000022.10:g.33255212G>T	OMIM Allelic Variant:188826.0005	C1850938 136900 Sorsby fundus dystrophy
NM_000362.4(TIMP3):c.536C>G (p.Ser179Cys)	-1	-	Pathogenic	137853300	RCV000013515;	N	MedGen:C1850938,OMIM:136900	22	33255264	33255264	NM_000362.4:c.536C>G	NP_000353.1:p.Ser179Cys	NC_000022.10:g.33255264C>G	OMIM Allelic Variant:188826.0003	C1850938 136900 Sorsby fundus dystrophy
NM_000362.4(TIMP3):c.565G>T (p.Gly189Cys)	-1	-	Pathogenic	137853301	RCV000013516;	N	MedGen:C1850938,OMIM:136900	22	33255293	33255293	NM_000362.4:c.565G>T	NP_000353.1:p.Gly189Cys	NC_000022.10:g.33255293G>T	OMIM Allelic Variant:188826.0004	C1850938 136900 Sorsby fundus dystrophy
NM_000362.4(TIMP3):c.572A>G (p.Tyr191Cys)	-1	-	Pathogenic	137853299	RCV000013514;	N	MedGen:C1850938,OMIM:136900	22	33255300	33255300	NM_000362.4:c.572A>G	NP_000353.1:p.Tyr191Cys	NC_000022.10:g.33255300A>G	OMIM Allelic Variant:188826.0002	C1850938 136900 Sorsby fundus dystrophy
NM_000362.4(TIMP3):c.610A>T (p.Ser204Cys)	-1	-	Pathogenic	137853298	RCV000013513;	N	MedGen:C1850938,OMIM:136900	22	33255338	33255338	NM_000362.4:c.610A>T	NP_000353.1:p.Ser204Cys	NC_000022.10:g.33255338A>T	OMIM Allelic Variant:188826.0001	C1850938 136900 Sorsby fundus dystrophy