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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: Microphthalmos (D008850)
..Starting node ..MICROPHTHALMIA, ISOLATED 6 (OMIM:613517)
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:

7225

Name:

MICROPHTHALMIA, ISOLATED 6

Definition:

Alternative IDs:

ParentIDs:

MESH:D008850

TreeNumbers:

C11.250.566/613517 |C16.131.384.666/613517

Synonyms:

MCOP6 |MICROPHTHALMIA, POSTERIOR NONSYNDROMIC

Slim Mappings:

Congenital abnormality|Eye disease

Reference:

MedGen: 613517
MeSH: 613517
OMIM: 613517;

Genes: PRSS56;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000482	Microcornea	HP:0040283
3	HP:0000568	Microphthalmia
4	HP:0030823	Scleral thickening

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_001195129.1(PRSS56):c.526C>G (p.Arg176Gly)	646960	PRSS56	Pathogenic	387907096	RCV000024076;	N	MedGen:C3150757,OMIM:613517	2	233387304	233387304	NM_001195129.1:c.526C>G	NP_001182058.1:p.Arg176Gly	NC_000002.11:g.233387304C>G	OMIM Allelic Variant:613858.0003	C3150757 613517 Microphthalmia, isolated 6
NM_001195129.1(PRSS56):c.709G>A (p.Gly237Arg)	646960	PRSS56	Pathogenic	730882160	RCV000162041;	N	MedGen:C3150757,OMIM:613517	2	233387772	233387772	NM_001195129.1:c.709G>A	NP_001182058.1:p.Gly237Arg	NC_000002.11:g.233387772G>A	OMIM Allelic Variant:613858.0008	C3150757 613517 Microphthalmia, isolated 6
NM_001195129.1(PRSS56):c.833dupG (p.Val279Argfs)	646960	PRSS56	Pathogenic	730882159	RCV000162040;	N	MedGen:C3150757,OMIM:613517	2	233387896	233387896	NM_001195129.1:c.833dupG	NP_001182058.1:p.Val279Argfs	NC_000002.11:g.233387896dupG	OMIM Allelic Variant:613858.0007	C3150757 613517 Microphthalmia, isolated 6
NM_001195129.1(PRSS56):c.904G>T (p.Val302Phe)	646960	PRSS56	Pathogenic	74703359	RCV000162039;	N	MedGen:C3150757,OMIM:613517	2	233388180	233388180	NM_001195129.1:c.904G>T	NP_001182058.1:p.Val302Phe	NC_000002.11:g.233388180G>T	OMIM Allelic Variant:613858.0006	C3150757 613517 Microphthalmia, isolated 6
NM_001195129.1(PRSS56):c.926G>C (p.Trp309Ser)	646960	PRSS56	Pathogenic	387907095	RCV000024075;	N	MedGen:C3150757,OMIM:613517	2	233388202	233388202	NM_001195129.1:c.926G>C	NP_001182058.1:p.Trp309Ser	NC_000002.11:g.233388202G>C	OMIM Allelic Variant:613858.0002	C3150757 613517 Microphthalmia, isolated 6
NM_001195129.1(PRSS56):c.958G>A (p.Gly320Arg)	646960	PRSS56	Pathogenic	730882158	RCV000162038;	N	MedGen:C3150757,OMIM:613517	2	233388234	233388234	NM_001195129.1:c.958G>A	NP_001182058.1:p.Gly320Arg	NC_000002.11:g.233388234G>A	OMIM Allelic Variant:613858.0005	C3150757 613517 Microphthalmia, isolated 6
NM_001195129.1(PRSS56):c.1066dupC (p.Gln356Profs)	646960	PRSS56	Pathogenic	730882064	RCV000024073;	N	MedGen:C3150757,OMIM:613517	2	233388535	233388535	NM_001195129.1:c.1066dupC	NP_001182058.1:p.Gln356Profs	NC_000002.11:g.233388535dupC	OMIM Allelic Variant:613858.0001	C3150757 613517 Microphthalmia, isolated 6
NM_001195129.1(PRSS56):c.1183T>C (p.Cys395Arg)	646960	PRSS56	Pathogenic	730882161	RCV000162042;	N	MedGen:C3150757,OMIM:613517	2	233388652	233388652	NM_001195129.1:c.1183T>C	NP_001182058.1:p.Cys395Arg	NC_000002.11:g.233388652T>C	OMIM Allelic Variant:613858.0009	C3150757 613517 Microphthalmia, isolated 6
NM_001195129.1(PRSS56):c.1555G>A (p.Gly519Arg)	646960	PRSS56	Pathogenic	730882162	RCV000162043;	N	MedGen:C3150757,OMIM:613517	2	233389959	233389959	NM_001195129.1:c.1555G>A	NP_001182058.1:p.Gly519Arg	NC_000002.11:g.233389959G>A	OMIM Allelic Variant:613858.0010	C3150757 613517 Microphthalmia, isolated 6
NM_001195129.1(PRSS56):c.1795C>G (p.Pro599Ala)	646960	PRSS56	Pathogenic	61744404	RCV000024074;	N	MedGen:C3150757,OMIM:613517	2	233390199	233390199	NM_001195129.1:c.1795C>G	NP_001182058.1:p.Pro599Ala	NC_000002.11:g.233390199C>G	OMIM Allelic Variant:613858.0004	C3150757 613517 Microphthalmia, isolated 6