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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: Anodontia (D000848)
Parent Node: Anus Diseases (D001004)
Parent Node: Axenfeld-Rieger syndrome (C535679)
Parent Node: Corneal Opacity (D003318)
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Diseases (C)
Parent Node: Facies (D019066)
Parent Node: Hernia, Umbilical (D006554)
Parent Node: Myotonic Dystrophy (D009223)
..Starting node ..AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Child Nodes:
Sister Nodes:
..AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1108

Name:

AXENFELD-RIEGER SYNDROME, TYPE 1

Definition:

Alternative IDs:

ParentIDs:

TreeNumbers:

C05.651.534.500.500/180500 |C05.651.662.750/180500 |C05.660.207/180500 |C06.405.469.860.101/180500 |C07.650.800.100/180500 |C07.793.700.100/180500 |C10.574.500.547/180500 |C10.668.491.175.500.500/180500 |C10.668.491.606.750/180500 |C11.204.299/180500 |C11.250/C535

Synonyms:

RGS |RIEG |RIEG1 |RIEGER SYNDROME, TYPE 1

Slim Mappings:

Reference:

MedGen: 180500
MeSH: 180500
OMIM: 180500;

Genes: PITX2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0004298	Abnormality of the abdominal wall
3	HP:0007873	Abnormally prominent line of Schwalbe
4	HP:0002023	Anal atresia
5	HP:0002025	Anal stenosis
6	HP:0000526	Aniridia
7	HP:0000824	Decreased response to growth hormone stimulation test
8	HP:0000501	Glaucoma
9	HP:0001425	Heterogeneous
10	HP:0000668	Hypodontia
11	HP:0007676	Hypoplasia of the iris
12	HP:0000327	Hypoplasia of the maxilla
13	HP:0000047	Hypospadias
14	HP:0000485	Megalocornea
15	HP:0000482	Microcornea
16	HP:0011500	Polycoria
17	HP:0000627	Posterior embryotoxon
18	HP:0000336	Prominent supraorbital ridges
19	HP:0000558	Rieger anomaly
20	HP:0000322	Short philtrum
21	HP:0000486	Strabismus
22	HP:0000219	Thin upper lip vermilion
23	HP:0003828	Variable expressivity
24	HP:0000431	Wide nasal bridge

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_153427.2(PITX2):c.399G>A (p.Trp133Ter)	5308	PITX2	Pathogenic	104893860	RCV000008556;	N	MedGen:C3714873,OMIM:180500	4	111539698	111539698	NM_153427.2:c.399G>A	NP_700476.1:p.Trp133Ter	NC_000004.11:g.111539698C>T	OMIM Allelic Variant:601542.0006	C3714873 180500 Axenfeld-Rieger syndrome type 1
NM_153427.2(PITX2):c.272G>C (p.Arg91Pro)	5308	PITX2	Pathogenic	104893859	RCV000008555;	N	MedGen:C3714873,OMIM:180500	4	111539825	111539825	NM_153427.2:c.272G>C	NP_700476.1:p.Arg91Pro	NC_000004.11:g.111539825C>G,NC_000004.11:g.111539825C>T	OMIM Allelic Variant:601542.0005	C3714873 180500 Axenfeld-Rieger syndrome type 1
NM_153427.2(PITX2):c.262A>G (p.Lys88Glu)	5308	PITX2	Pathogenic	387906810	RCV000023116;	N	MedGen:C3714873,OMIM:180500	4	111539835	111539835	NM_153427.2:c.262A>G	NP_700476.1:p.Lys88Glu	NC_000004.11:g.111539835T>C	OMIM Allelic Variant:601542.0013	C3714873 180500 Axenfeld-Rieger syndrome type 1
NM_153427.2(PITX2):c.247G>C (p.Val83Leu)	5308	PITX2	Pathogenic	121909249	RCV000008560;	N	MedGen:C3714873,OMIM:180500	4	111542325	111542325	NM_153427.2:c.247G>C	NP_700476.1:p.Val83Leu	NC_000004.11:g.111542325C>G	OMIM Allelic Variant:601542.0010	C3714873 180500 Axenfeld-Rieger syndrome type 1
NM_153427.2(PITX2):c.202A>C (p.Thr68Pro)	5308	PITX2	Pathogenic	104893858	RCV000008553;	N	MedGen:C3714873,OMIM:180500	4	111542370	111542370	NM_153427.2:c.202A>C	NP_700476.1:p.Thr68Pro	NC_000004.11:g.111542370T>G	OMIM Allelic Variant:601542.0003	C3714873 180500 Axenfeld-Rieger syndrome type 1
NM_153427.2(PITX2):c.161T>A (p.Leu54Gln)	5308	PITX2	Pathogenic	104893857	RCV000008551;	N	MedGen:C3714873,OMIM:180500	4	111542411	111542411	NM_153427.2:c.161T>A	NP_700476.1:p.Leu54Gln	NC_000004.11:g.111542411A>T	OMIM Allelic Variant:601542.0001	C3714873 180500 Axenfeld-Rieger syndrome type 1
NM_018699.3(PRDM5):c.877A>G (p.Lys293Glu)	11107	PRDM5	Uncertain significance	779601690	RCV000207198;	N	MedGen:C3714873,OMIM:180500	4	121732593	121732593	NM_018699.3:c.877A>G	NP_061169.2:p.Lys293Glu	NC_000004.11:g.121732593T>C	OMIM Allelic Variant:614161.0007	C3714873 180500 Axenfeld-Rieger syndrome type 1