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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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Eye Abnormalities (D005124)
Parent Node: Nephrotic Syndrome (D009404)
Parent Node: Pupil Disorders (D011681)
..Starting node ..Pierson syndrome (C537185)
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:

8931

Name:

Pierson syndrome

Definition:

Alternative IDs:

OMIM:609049

ParentIDs:

MESH:D000015|MESH:D005124|MESH:D009404|MESH:D011681

TreeNumbers:

C10.597.690/C537185 |C11.250/C537185 |C11.710/C537185 |C12.777.419.630.643/C537185 |C13.351.968.419.630.643/C537185 |C16.131.077/C537185 |C16.131.384/C537185 |C23.888.592.708/C537185

Synonyms:

Microcoria and congenital nephrotic syndrome |Microcoria-Congenital Nephrotic Syndrome |Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome

Slim Mappings:

Reference:

MedGen: C537185
MeSH: C537185
OMIM: 609049;

Genes: LAMB2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003623	Neonatal onset
3	HP:0001284	Areflexia
4	HP:0000618	Blindness
5	HP:0001967	Diffuse mesangial sclerosis
6	HP:0000969	Edema
7	HP:0001290	Generalized hypotonia
8	HP:0007774	Hypoplasia of the ciliary body
9	HP:0007676	Hypoplasia of the iris
10	HP:0003075	Hypoproteinemia
11	HP:0001252	Hypotonia
12	HP:0000100	Nephrotic syndrome
13	HP:0011502	Posterior lenticonus
14	HP:0000093	Proteinuria
15	HP:0003774	Stage 5 chronic kidney disease

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_002292.3(LAMB2):c.2890C>T (p.Arg964Ter)	3913	LAMB2	Pathogenic	730880125	RCV000157282;	N	MedGen:C1836876,OMIM:609049,ORPHA:2670	3	49162353	49162353	NM_002292.3:c.2890C>T	NP_002283.3:p.Arg964Ter	NC_000003.11:g.49162353G>A	-	C1836876 609049 Pierson syndrome
NM_002292.3(LAMB2):c.2067C>G (p.Tyr689Ter)	3913	LAMB2	Pathogenic	121912489	RCV000015631;	N	MedGen:C1836876,OMIM:609049,ORPHA:2670	3	49163882	49163882	NM_002292.3:c.2067C>G	NP_002283.3:p.Tyr689Ter	NC_000003.11:g.49163882G>C	OMIM Allelic Variant:150325.0004	C1836876 609049 Pierson syndrome
NM_002292.3(LAMB2):c.1122T>A (p.Cys374Ter)	3913	LAMB2	Pathogenic	121912490	RCV000015632;	N	MedGen:C1836876,OMIM:609049,ORPHA:2670	3	49167767	49167767	NM_002292.3:c.1122T>A	NP_002283.3:p.Cys374Ter	NC_000003.11:g.49167767A>T	OMIM Allelic Variant:150325.0005	C1836876 609049 Pierson syndrome
NM_002292.3(LAMB2):c.736C>T (p.Arg246Trp)	3913	LAMB2	Pathogenic	121912488	RCV000015629;	N	MedGen:C1836876,OMIM:609049,ORPHA:2670	3	49168562	49168562	NM_002292.3:c.736C>T	NP_002283.3:p.Arg246Trp	NC_000003.11:g.49168562G>A	OMIM Allelic Variant:150325.0002	C1836876 609049 Pierson syndrome