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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: Cataract (D002386)
Parent Node: Heart Septal Defects (D006343)
Parent Node: Microphthalmos (D008850)
..Starting node ..Microphthalmia, syndromic 2 (C537465)
Child Nodes:
Sister Nodes:
..Adams Nance syndrome (C538224)
..Anophthalmia with pulmonary hypoplasia (C537768)
..Arhinia, choanal atresia, and microphthalmia (C537429)
..Aughton syndrome (C538269)
..Behrens Baumann Dust syndrome (C537670)
..Cataract, congenital, with microcornea or slight microphthalmia (C535338)
..Coloboma, cleft lip/palate and mental retardation syndrome (C535971)
..Duker Weiss Siber syndrome (C535719)
..FRONTONASAL DYSPLASIA 3 (OMIM:613456)
..Ghose Sachdev Kumar syndrome (C537803)
..GOMBO syndrome (C537284)
..Hittner Hirsch Kreh syndrome (C538323)
..Holoprosencephaly 10 (C567278)
..Kaplowitz Bodurtha syndrome (C536893)
..Macrosomia with lethal microphthalmia (C537830)
..Microcephaly microphthalmos blindness (C537541)
..Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism (C537686)
..Microcornea corectopia macular hypoplasia (C537551)
..Microgastria limb reduction defect (C537554)
..Microphthalmia and mental deficiency (C537462)
..Microphthalmia associated with colobomatous cyst (C537463)
..Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies (C564370)
..Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies (C566884)
..Microphthalmia, Cataracts, and Iris Abnormalities (C566448)
..Microphthalmia, Isolated 1 (C565377)
..Microphthalmia, Isolated 2 (C566446)
..Microphthalmia, Isolated 3 (C567025)
..Microphthalmia, Isolated 4 (C567757)
..MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
..MICROPHTHALMIA, ISOLATED 6 (OMIM:613517)
..MICROPHTHALMIA, ISOLATED 7 (OMIM:613704)
..Microphthalmia, Isolated, with Cataract 1 (C563582)
..Microphthalmia, Isolated, with Cataract 2 (C565876)
..Microphthalmia, Isolated, with Cataract 3 (C564452)
..Microphthalmia, Isolated, with Cataract 4 (C566480)
..Microphthalmia, Isolated, with Coloboma 1 (C564531)
..Microphthalmia, Isolated, with Coloboma 2 (C565300)
..Microphthalmia, Isolated, with Coloboma 3 (C566447)
..Microphthalmia, Isolated, with Coloboma 4 (C565378)
..Microphthalmia, Isolated, with Coloboma 5 (C566899)
..MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)
..Microphthalmia, Isolated, With Corectopia (C563581)
..Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen (C567024)
..Microphthalmia, syndromic 1 (C537464)
..Microphthalmia, Syndromic 10 (C566985)
..Microphthalmia, syndromic 2 (C537465)
..Microphthalmia, Syndromic 3 (C565948)
..Microphthalmia, Syndromic 4 (C564457)
..Microphthalmia, Syndromic 5 (C566441)
..Microphthalmia, Syndromic 6 (C566440)
..Microphthalmia, syndromic 7 (C537466)
..Nanophthalmos 1 (C563983)
..Nanophthalmos 2 (C563700)
..Nanophthalmos 3 (C567498)
..Oculodentoosseous dysplasia recessive (C537733)
..Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria (C566880)
..Thomas Jewett Raines syndrome (C536513)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7241

Name:

Microphthalmia, syndromic 2

Definition:

Alternative IDs:

OMIM:300166

ParentIDs:

MESH:D002386|MESH:D006343|MESH:D008850

TreeNumbers:

C11.250.566/C537465 |C11.510.245/C537465 |C14.240.400.560/C537465 |C14.280.400.560/C537465 |C16.131.240.400.560/C537465 |C16.131.384.666/C537465

Synonyms:

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Eye disease

Reference:

MedGen: C537465
MeSH: C537465
OMIM: 300166;

Genes: BCOR;

Phenotypes

1	HP:0001423	X-linked dominant inheritance
2	HP:0004691	2-3 toe syndactyly
3	HP:0000846	Adrenal insufficiency	HP:0040283
4	HP:0000528	Anophthalmia
5	HP:0001650	Aortic valve stenosis
6	HP:0010722	Asymmetry of the ears
7	HP:0001631	Atrial septal defect
8	HP:0000456	Bifid nasal tip
9	HP:0000193	Bifid uvula
10	HP:0000581	Blepharophimosis
11	HP:0000455	Broad nasal tip
12	HP:0000028	Cryptorchidism
13	HP:0004325	Decreased body weight	HP:0040283
14	HP:0000684	Delayed eruption of teeth
15	HP:0000689	Dental malocclusion
16	HP:0000519	Developmental cataract
17	HP:0001651	Dextrocardia	HP:0040283
18	HP:0001719	Double outlet right ventricle	HP:0040283
19	HP:0000577	Exotropia
20	HP:0001371	Flexion contracture	HP:0040283
21	HP:0011090	Fused teeth
22	HP:0000501	Glaucoma
23	HP:0001765	Hammertoe
24	HP:0001188	Hand clenching	HP:0040283
25	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283
26	HP:0000047	Hypospadias	HP:0040283
27	HP:0000821	Hypothyroidism	HP:0040283
28	HP:0001256	Intellectual disability, mild
29	HP:0007733	Laterally curved eyebrow
30	HP:0000276	Long face
31	HP:0000343	Long philtrum
32	HP:0000252	Microcephaly
33	HP:0000482	Microcornea
34	HP:0000568	Microphthalmia
35	HP:0001634	Mitral valve prolapse
36	HP:0001270	Motor delay
37	HP:0000275	Narrow face
38	HP:0000677	Oligodontia
39	HP:0001643	Patent ductus arteriosus
40	HP:0006335	Persistence of primary teeth
41	HP:0000667	Phthisis bulbi	HP:0040283
42	HP:0000358	Posteriorly rotated ears
43	HP:0000426	Prominent nasal bridge
44	HP:0000508	Ptosis
45	HP:0001642	Pulmonic stenosis
46	HP:0002974	Radioulnar synostosis
47	HP:0007968	Remnants of the hyaloid vascular system
48	HP:0000541	Retinal detachment	HP:0040283
49	HP:0002650	Scoliosis	HP:0040283
50	HP:0001250	Seizure	HP:0040283
51	HP:0000407	Sensorineural hearing impairment
52	HP:0001153	Septate vagina
53	HP:0004322	Short stature
54	HP:0002313	Spastic paraparesis	HP:0040283
55	HP:0000176	Submucous cleft hard palate
56	HP:0011069	Supernumerary tooth
57	HP:0001762	Talipes equinovarus	HP:0040283
58	HP:0000574	Thick eyebrow
59	HP:0001537	Umbilical hernia	HP:0040283
60	HP:0001629	Ventricular septal defect
61	HP:0000572	Visual loss

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
NG_008880.1:g.127856_129265del1410	54880	BCOR	Pathogenic	-1	RCV000157081;	N	MedGen:C1846265,OMIM:300166,ORPHA:2712	X	39912318	39913727	-	-		OMIM Allelic Variant:300485.0011,dbVar:nssv7487167,dbVar:nsv1197594	C1846265 300166 Oculofaciocardiodental syndrome
NM_001123383.1(BCOR):c.4760dupC (p.Gly1588Argfs)	54880	BCOR	Pathogenic	797044647	RCV000174783;	N	MedGen:C1846265,OMIM:300166,ORPHA:2712	X	39913253	39913253	NM_001123383.1:c.4760dupC	NP_001116855.1:p.Gly1588Argfs	NC_000023.10:g.39913253dupG	-	C1846265 300166 Oculofaciocardiodental syndrome
NM_001123385.1(BCOR):c.4304_4308delCATGC (p.Pro1435Leufs)	54880	BCOR	Pathogenic	730880034	RCV000157082;	N	MedGen:C1846265,OMIM:300166,ORPHA:2712	X	39921512	39921516	NM_001123385.1:c.4304_4308delCATGC	NP_001116857.1:p.Pro1435Leufs	NC_000023.10:g.39921512_39921516delGCATG	OMIM Allelic Variant:300485.0012	C1846265 300166 Oculofaciocardiodental syndrome
NM_017745.5(BCOR):c.4009C>T (p.Gln1337Ter)	54880	BCOR	Likely pathogenic	863224850	RCV000198068;	N	MedGen:C1846265,OMIM:300166,ORPHA:2712	X	39922061	39922061	NM_017745.5:c.4009C>T	NP_060215.4:p.Gln1337Ter	NC_000023.10:g.39922061G>A	-	C1846265 300166 Oculofaciocardiodental syndrome
NM_001123383.1(BCOR):c.2926C>T (p.Arg976Ter)	54880	BCOR	Pathogenic	121434619	RCV000011660;	N	MedGen:C1846265,OMIM:300166,ORPHA:2712	X	39931673	39931673	NM_001123383.1:c.2926C>T	NP_001116855.1:p.Arg976Ter	NC_000023.10:g.39931673G>A	OMIM Allelic Variant:300485.0003	C1846265 300166 Oculofaciocardiodental syndrome
NM_017745.5(BCOR):c.2613delC (p.Phe871Leufs)	54880	BCOR	Pathogenic	730880013	RCV000011666;	N	MedGen:C1846265,OMIM:300166,ORPHA:2712	X	39931986	39931986	NM_017745.5:c.2613delC	NP_060215.4:p.Phe871Leufs	NC_000023.10:g.39931986delG	OMIM Allelic Variant:300485.0009	C1846265 300166 Oculofaciocardiodental syndrome
NM_017745.5(BCOR):c.254C>T (p.Pro85Leu)	54880	BCOR	Pathogenic	121434618	RCV000011658;	N	MedGen:C1846265,OMIM:300166,ORPHA:2712	X	39934345	39934345	NM_017745.5:c.254C>T	NP_060215.4:p.Pro85Leu	NC_000023.10:g.39934345G>A	OMIM Allelic Variant:300485.0001	C1846265 300166 Oculofaciocardiodental syndrome