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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

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

Disease Browser
Parent Node: Microphthalmos (D008850)
..Starting node ..Microphthalmia, Syndromic 5 (C566441)
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:

7244

Name:

Microphthalmia, Syndromic 5

Definition:

Alternative IDs:

OMIM:610125

ParentIDs:

MESH:D008850

TreeNumbers:

C11.250.566/C566441 |C16.131.384.666/C566441

Synonyms:

MCOPS5 |RETINAL DYSTROPHY, EARLY-ONSET, AND PITUITARY DYSFUNCTION, INCLUDED

Slim Mappings:

Congenital abnormality|Eye disease

Reference:

MedGen: C566441
MeSH: C566441
OMIM: 610125;

Genes: OTX2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000518	Cataract
3	HP:0000175	Cleft palate	HP:0040283
4	HP:0000589	Coloboma
5	HP:0000028	Cryptorchidism	HP:0040283
6	HP:0011755	Ectopic posterior pituitary	HP:0040283
7	HP:0001290	Generalized hypotonia
8	HP:0001263	Global developmental delay
9	HP:0001388	Joint laxity
10	HP:0000482	Microcornea
11	HP:0000054	Micropenis	HP:0040283
12	HP:0000568	Microphthalmia
13	HP:0000556	Retinal dystrophy
14	HP:0001250	Seizure
15	HP:0004322	Short stature	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_172337.2(OTX2):c.562G>T (p.Gly188Ter)	5015	OTX2	Pathogenic	397514463	RCV000022927;	N	MedGen:C1864690,OMIM:610125,ORPHA:178364	14	57268761	57268761	NM_172337.2:c.562G>T	NP_758840.1:p.Gly188Ter	NC_000014.8:g.57268761C>A	OMIM Allelic Variant:600037.0010	C1864690 610125 Microphthalmia syndromic 5
NM_172337.2(OTX2):c.537T>A (p.Tyr179Ter)	5015	OTX2	Pathogenic	104894465	RCV000010126;	N	MedGen:C1864690,OMIM:610125,ORPHA:178364	14	57268786	57268786	NM_172337.2:c.537T>A	NP_758840.1:p.Tyr179Ter	NC_000014.8:g.57268786A>T	OMIM Allelic Variant:600037.0004	C1864690 610125 Microphthalmia syndromic 5
NM_172337.2(OTX2):c.463_464dupGC (p.Ser156Leufs)	5015	OTX2	Pathogenic	786205873	RCV000010123;	N	MedGen:C1864690,OMIM:610125,ORPHA:178364	14	57268859	57268860	NM_172337.2:c.463_464dupGC	NP_758840.1:p.Ser156Leufs	NC_000014.8:g.57268859_57268860dupGC	OMIM Allelic Variant:600037.0001	C1864690 610125 Microphthalmia syndromic 5
NM_172337.2(OTX2):c.413C>G (p.Ser138Ter)	5015	OTX2	Pathogenic	786205879	RCV000022925;	N	MedGen:C1864690,OMIM:610125,ORPHA:178364	14	57268910	57268910	NM_172337.2:c.413C>G	NP_758840.1:p.Ser138Ter	NC_000014.8:g.57268910G>C	OMIM Allelic Variant:600037.0008	C1864690 610125 Microphthalmia syndromic 5
NM_021728.3(OTX2):c.316delC (p.Gln106Asnfs)	5015	OTX2	Pathogenic	786205884	RCV000170470;	N	MedGen:C1864690,OMIM:610125,ORPHA:178364	14	57269031	57269031	NM_021728.3:c.316delC	NP_068374.1:p.Gln106Asnfs	NC_000014.8:g.57269031delG	OMIM Allelic Variant:600037.0012	C1864690 610125 Microphthalmia syndromic 5
NM_172337.2(OTX2):c.265C>G (p.Arg89Gly)	5015	OTX2	Pathogenic	104894464	RCV000010124;	N	MedGen:C1864690,OMIM:610125,ORPHA:178364	14	57269058	57269058	NM_172337.2:c.265C>G	NP_758840.1:p.Arg89Gly	NC_000014.8:g.57269058G>A,NC_000014.8:g.57269058G>C	OMIM Allelic Variant:600037.0002	C1864690 610125 Microphthalmia syndromic 5
NM_021728.3(OTX2):c.289C>T (p.Arg97Ter)	5015	OTX2	Pathogenic	104894464	RCV000170471;	N	MedGen:C1864690,OMIM:610125,ORPHA:178364	14	57269058	57269058	NM_021728.3:c.289C>T	NP_068374.1:p.Arg97Ter	NC_000014.8:g.57269058G>A,NC_000014.8:g.57269058G>C	OMIM Allelic Variant:600037.0013	C1864690 610125 Microphthalmia syndromic 5
NM_172337.2(OTX2):c.235G>A (p.Glu79Lys)	5015	OTX2	Pathogenic	786205224	RCV000170472;	N	MedGen:C1864690,OMIM:610125,ORPHA:178364	14	57270920	57270920	NM_172337.2:c.235G>A	NP_758840.1:p.Glu79Lys	NC_000014.8:g.57270920C>T	OMIM Allelic Variant:600037.0014	C1864690 610125 Microphthalmia syndromic 5
NM_172337.2(OTX2):c.81delC (p.Ser28Profs)	5015	OTX2	Pathogenic	786205874	RCV000010125;	N	MedGen:C1864690,OMIM:610125,ORPHA:178364	14	57272094	57272094	NM_172337.2:c.81delC	NP_758840.1:p.Ser28Profs	NC_000014.8:g.57272094delG	OMIM Allelic Variant:600037.0003	C1864690 610125 Microphthalmia syndromic 5