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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

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: Eye Abnormalities (D005124)
Parent Node: Eye Diseases, Hereditary (D015785)
Parent Node: Iris Diseases (D007499)
..Starting node ..Aniridia (D015783)
Child Nodes:
........Aniridia and Absent Patella (C566281)
........Aniridia cerebellar ataxia mental deficiency (C536370)
........Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract (C566280)
........Aniridia, type 2 (C536372)
........Ichthyosis prematurity syndrome (C536271)
........WAGR Syndrome (D017624) 2
........Walker Dyson syndrome (C536568)
........Zazam Sheriff Phillips syndrome (C536723)
Sister Nodes:
..Aniridia (D015783) 10
..De Hauwere Leroy Adriaenssens syndrome (C535991)
..Exfoliation Syndrome (D017889)
..Heterochromia iridis (C538115)
..Iridocorneal Endothelial Syndrome (D057129)
..Iridocyclitis (D015863)
..Iridogoniodysgenesis type1 (C535535)
..Iridogoniodysgenesis, dominant type (C535536)
..Iris Neoplasms (D015811)
..Iritis (D007500)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

704

Name:

Aniridia

Definition:

A congenital abnormality in which there is only a rudimentary iris. This is due to the failure of the optic cup to grow. Aniridia also occurs in a hereditary form, usually autosomal dominant.

Alternative IDs:

ParentIDs:

MESH:D005124|MESH:D007499|MESH:D015785

TreeNumbers:

C11.250.060 |C11.270.060 |C11.941.375.060 |C16.131.384.079 |C16.320.290.078

Synonyms:

Absent Iris |Congenital Aniridia |Irideremia

Slim Mappings:

Congenital abnormality|Eye disease|Genetic disease (inborn)

Reference:

MedGen: D015783
MeSH: D015783
OMIM: 106210;

Genes: ELP4; PAX6;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000526	Aniridia
3	HP:0000518	Cataract
4	HP:0000501	Glaucoma
5	HP:0002079	Hypoplasia of the corpus callosum
6	HP:0007750	Hypoplasia of the fovea
7	HP:0000639	Nystagmus
8	HP:0007759	Opacification of the corneal stroma
9	HP:0000609	Optic nerve hypoplasia
10	HP:0002126	Polymicrogyria	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_019040.4(ELP4):c.1143+14176C>A	26610	ELP4	Pathogenic	606231388	RCV000106409;	N	MedGen:C0003076,OMIM:106210,ORPHA:250923,SNOMED CT:69278003	11	31685945	31685945	NM_019040.4:c.1143+14176C>A		NC_000011.9:g.31685945C>A	OMIM Allelic Variant:606985.0001	C0003076 106210 Congenital aniridia
NM_000280.4(PAX6):c.1268A>T (p.Ter423Leu)	5080	PAX6	Pathogenic	121907922	RCV000003642;	N	MedGen:C0003076,OMIM:106210,ORPHA:250923,SNOMED CT:69278003	11	31811483	31811483	NM_000280.4:c.1268A>T	NP_000271.1:p.Ter423Leu	NC_000011.9:g.31811483T>A	OMIM Allelic Variant:607108.0016	C0003076 106210 Congenital aniridia
NM_000280.4(PAX6):c.1242_1243insATATG (p.Ser415Ilefs)	5080	PAX6	Pathogenic	797044642	RCV000174463;	N	MedGen:C0003076,OMIM:106210,ORPHA:250923,SNOMED CT:69278003	11	31811508	31811509	NM_000280.4:c.1242_1243insATATG	NP_000271.1:p.Ser415Ilefs	NC_000011.9:g.31811508_31811509insCATAT	-	C0003076 106210 Congenital aniridia
NM_001604.5(PAX6):c.1075-2A>G	5080	PAX6	Pathogenic	794726661	RCV000003633;	N	MedGen:C0003076,OMIM:106210,ORPHA:250923,SNOMED CT:69278003	11	31812410	31812410	NM_001604.5:c.1075-2A>G		NC_000011.9:g.31812410T>C	OMIM Allelic Variant:607108.0010	C0003076 106210 Congenital aniridia
NM_000280.4(PAX6):c.894_895insCAGTGTCTACCAACCA (p.Ile299Glnfs)	5080	PAX6	Pathogenic	797044627	RCV000173670;	N	MedGen:C0003076,OMIM:106210,ORPHA:250923,SNOMED CT:69278003	11	31815221	31815222	NM_000280.4:c.894_895insCAGTGTCTACCAACCA	NP_000271.1:p.Ile299Glnfs	NC_000011.9:g.31815221_31815222insTGGTTGGTAGACACTG	-	C0003076 106210 Congenital aniridia
NM_000280.4(PAX6):c.725G>C (p.Arg242Thr)	5080	PAX6	Pathogenic	121907927	RCV000003649;	N	MedGen:C0003076,OMIM:106210,ORPHA:250923,SNOMED CT:69278003	11	31815620	31815620	NM_000280.4:c.725G>C	NP_000271.1:p.Arg242Thr	NC_000011.9:g.31815620C>G	OMIM Allelic Variant:607108.0022	C0003076 106210 Congenital aniridia
NM_000280.4(PAX6):c.718C>T (p.Arg240Ter)	5080	PAX6	Pathogenic	121907917	RCV000003632;	N	MedGen:C0003076,OMIM:106210,ORPHA:250923,SNOMED CT:69278003	11	31815627	31815627	NM_000280.4:c.718C>T	NP_000271.1:p.Arg240Ter	NC_000011.9:g.31815627G>A	OMIM Allelic Variant:607108.0009	C0003076 106210 Congenital aniridia
NM_000280.4(PAX6):c.607C>T (p.Arg203Ter)	5080	PAX6	Pathogenic	121907916	RCV000003631; RCV000078545;	N	MedGen:C0003076,OMIM:106210,ORPHA:250923,SNOMED CT:69278003; MedGen:CN221809	11	31816253	31816253	NM_000280.4:c.607C>T	NP_000271.1:p.Arg203Ter	NC_000011.9:g.31816253G>A	HGMD:CM950911,OMIM Allelic Variant:607108.0008	C0003076 106210 Congenital aniridia; CN221809 not provided
NM_000280.4(PAX6):c.406C>T (p.Gln136Ter)	5080	PAX6	Pathogenic	121907912	RCV000003625;	N	MedGen:C0003076,OMIM:106210,ORPHA:250923,SNOMED CT:69278003	11	31822356	31822356	NM_000280.4:c.406C>T	NP_000271.1:p.Gln136Ter	NC_000011.9:g.31822356G>A	OMIM Allelic Variant:607108.0003	C0003076 106210 Congenital aniridia
NM_000280.4(PAX6):c.357+1G>A	5080	PAX6	Pathogenic	398123295	RCV000179284; RCV000078543;	N	MedGen:C0003076,OMIM:106210,ORPHA:250923,SNOMED CT:69278003; MedGen:CN221809	11	31823108	31823108	NM_000280.4:c.357+1G>A		NC_000011.9:g.31823108C>T	HGMD:CS930856	C0003076 106210 Congenital aniridia; CN221809 not provided
NM_000280.4(PAX6):c.357C>A (p.Ser119Arg)	5080	PAX6	Pathogenic	121907928	RCV000003650;	N	MedGen:C0003076,OMIM:106210,ORPHA:250923,SNOMED CT:69278003	11	31823109	31823109	NM_000280.4:c.357C>A	NP_000271.1:p.Ser119Arg	NC_000011.9:g.31823109G>T	OMIM Allelic Variant:607108.0023	C0003076 106210 Congenital aniridia
NM_000280.4(PAX6):c.307C>T (p.Arg103Ter)	5080	PAX6	Pathogenic	121907914	RCV000003629;	N	MedGen:C0003076,OMIM:106210,ORPHA:250923,SNOMED CT:69278003	11	31823159	31823159	NM_000280.4:c.307C>T	NP_000271.1:p.Arg103Ter	NC_000011.9:g.31823159G>A	OMIM Allelic Variant:607108.0005	C0003076 106210 Congenital aniridia
NM_000280.4(PAX6):c.112C>T (p.Arg38Trp)	5080	PAX6	Pathogenic	397514640	RCV000033168;	N	MedGen:C0003076,OMIM:106210,ORPHA:250923,SNOMED CT:69278003	11	31824281	31824281	NM_000280.4:c.112C>T	NP_000271.1:p.Arg38Trp	NC_000011.9:g.31824281G>A	OMIM Allelic Variant:607108.0026	C0003076 106210 Congenital aniridia
NM_000280.4(PAX6):c.76C>G (p.Arg26Gly)	5080	PAX6	Pathogenic	121907913	RCV000003628; RCV000003627;	N	MedGen:C0003076,OMIM:106210,ORPHA:250923,SNOMED CT:69278003; MedGen:C0344559,OMIM:604229,ORPHA:708,SNOMED CT:204153003	11	31824317	31824317	NM_000280.4:c.76C>G	NP_000271.1:p.Arg26Gly	NC_000011.9:g.31824317G>C	OMIM Allelic Variant:607108.0004	C0003076 106210 Congenital aniridia; C0344559 604229 Irido-corneo-trabecular dysgenesis
NM_000280.4(PAX6):c.46delG (p.Val16Serfs)	5080	PAX6	Pathogenic	398123296	RCV000178745; RCV000078544;	N	MedGen:C0003076,OMIM:106210,ORPHA:250923,SNOMED CT:69278003; MedGen:CN221809	11	31824347	31824347	NM_000280.4:c.46delG	NP_000271.1:p.Val16Serfs	NC_000011.9:g.31824347delC	-	C0003076 106210 Congenital aniridia; CN221809 not provided