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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

Disease Browser
Parent Node: Ectopia Lentis (D004479)
Parent Node: Pupil Disorders (D011681)
..Starting node ..Ectopia Lentis with Ectopia of Pupil (C563268)
Child Nodes:
Sister Nodes:
..Anisocoria (D015875)
..Congenital Corneal Opacities, Cornea Guttata, and Corectopia (C563921)
..Ectopia Lentis with Ectopia of Pupil (C563268)
..Ectopia pupillae (C536185)
..McPherson Robertson Cammarano syndrome (C538161)
..Microcoria, congenital (C537550)
..Microphthalmia, Isolated, With Corectopia (C563581)
..Miosis (D015877) 5
..Mydriasis (D015878) 1
..Pierson syndrome (C537185)
..Ptosis, Strabismus, And Ectopic Pupils (C566736)
..Tonic Pupil (D015845) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3633

Name:

Ectopia Lentis with Ectopia of Pupil

Definition:

Alternative IDs:

ParentIDs:

MESH:D004479|MESH:D011681

TreeNumbers:

C10.597.690/C563268 |C11.250.300/C563268 |C11.510.598.373/C563268 |C11.710/C563268 |C16.131.384.405/C563268 |C23.888.592.708/C563268

Synonyms:

Ectopia Lentis et Pupillae

Slim Mappings:

Congenital abnormality|Eye disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C563268
MeSH: C563268
OMIM: 225200;

Genes: ADAMTSL4;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000518	Cataract
3	HP:0001083	Ectopia lentis
4	HP:0011003	High myopia	HP:0040283
5	HP:0009917	Persistent pupillary membrane	HP:0040283
6	HP:0000541	Retinal detachment	HP:0040283

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_019032.5(ADAMTSL4):c.767_786del20 (p.Gln256Profs)	54507	ADAMTSL4	Pathogenic	199473693	RCV000032754; RCV000032753;	N	MedGen:C1644196,OMIM:225200,SNOMED CT:419237004; MedGen:C2673634,OMIM:225100	1	150526234	150526253	NM_019032.5:c.767_786del20	NP_061905.2:p.Gln256Profs	NC_000001.10:g.150526234_150526253del20	OMIM Allelic Variant:610113.0003	C1644196 225200 Ectopia lentis et pupillae; C2673634 225100 Ectopia lentis, isolated autosomal recessive
NM_019032.5(ADAMTSL4):c.826_836delCGTGCATCCCC (p.Arg276Serfs)	54507	ADAMTSL4	Pathogenic	794726688	RCV000032755; RCV000032756;	N	MedGen:C1644196,OMIM:225200,SNOMED CT:419237004; MedGen:C2673634,OMIM:225100	1	150526293	150526303	NM_019032.5:c.826_836delCGTGCATCCCC	NP_061905.2:p.Arg276Serfs	NC_000001.10:g.150526293_150526303delCGTGCATCCCC	OMIM Allelic Variant:610113.0004	C1644196 225200 Ectopia lentis et pupillae; C2673634 225100 Ectopia lentis, isolated autosomal recessive
NM_019032.5(ADAMTSL4):c.2270dupG (p.Gly758Trpfs)	54507	ADAMTSL4	Pathogenic	794726690	RCV000032759;	N	MedGen:C1644196,OMIM:225200,SNOMED CT:419237004	1	150530513	150530513	NM_019032.5:c.2270dupG	NP_061905.2:p.Gly758Trpfs	NC_000001.10:g.150530513dupG	OMIM Allelic Variant:610113.0007	C1644196 225200 Ectopia lentis et pupillae