Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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

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

Disease Browser
Parent Node: Anophthalmos (D000853)
Parent Node: Lung Diseases (D008171)
Parent Node: Microphthalmos (D008850)
..Starting node ..Anophthalmia with pulmonary hypoplasia (C537768)
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:

732

Name:

Anophthalmia with pulmonary hypoplasia

Definition:

Alternative IDs:

OMIM:601186

ParentIDs:

MESH:D000853|MESH:D008171|MESH:D008850

TreeNumbers:

C08.381/C537768 |C11.250.080/C537768 |C11.250.566/C537768 |C16.131.384.159/C537768 |C16.131.384.666/C537768

Synonyms:

Slim Mappings:

Congenital abnormality|Eye disease|Respiratory tract disease

Reference:

MedGen: C537768
MeSH: C537768
OMIM: 601186;

Genes: STRA6;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0005311	Agenesis of pulmonary vessels
3	HP:0000528	Anophthalmia
4	HP:0001631	Atrial septal defect
5	HP:0000813	Bicornuate uterus
6	HP:0005944	Bilateral lung agenesis
7	HP:0007633	Bilateral microphthalmos
8	HP:0000581	Blepharophimosis
9	HP:0001680	Coarctation of aorta
10	HP:0000776	Congenital diaphragmatic hernia
11	HP:0000028	Cryptorchidism
12	HP:0009110	Diaphragmatic eventration
13	HP:0001290	Generalized hypotonia
14	HP:0000085	Horseshoe kidney
15	HP:0000126	Hydronephrosis
16	HP:0000013	Hypoplasia of the uterus
17	HP:0005156	Hypoplastic left atrium
18	HP:0006270	Hypoplastic spleen
19	HP:0001252	Hypotonia
20	HP:0000023	Inguinal hernia
21	HP:0002187	Intellectual disability, profound
22	HP:0001511	Intrauterine growth retardation
23	HP:0000369	Low-set ears	HP:0040283
24	HP:0000347	Micrognathia
25	HP:0001643	Patent ductus arteriosus
26	HP:0000125	Pelvic kidney
27	HP:0004935	Pulmonary artery atresia
28	HP:0002089	Pulmonary hypoplasia
29	HP:0001642	Pulmonic stenosis
30	HP:0000089	Renal hypoplasia
31	HP:0004712	Renal malrotation
32	HP:0002093	Respiratory insufficiency
33	HP:0002627	Right aortic arch with mirror image branching
34	HP:0004322	Short stature
35	HP:0001750	Single ventricle
36	HP:0001636	Tetralogy of Fallot
37	HP:0001660	Truncus arteriosus	HP:0040283
38	HP:0001629	Ventricular septal defect
39	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_001142617.1(STRA6):c.1964G>A (p.Arg655His)	64220	STRA6	Pathogenic	397514639	RCV000033166;	N	MedGen:C1832661,OMIM:601186,ORPHA:2470	15	74472461	74472461	NM_001142617.1:c.1964G>A	NP_001136089.1:p.Arg655His	NC_000015.9:g.74472461C>T	OMIM Allelic Variant:610745.0013	C1832661 601186 Microphthalmia syndromic 9
NM_001142617.1(STRA6):c.1963C>T (p.Arg655Cys)	64220	STRA6	Pathogenic	118203959	RCV000001194;	N	MedGen:C1832661,OMIM:601186,ORPHA:2470	15	74472462	74472462	NM_001142617.1:c.1963C>T	NP_001136089.1:p.Arg655Cys	NC_000015.9:g.74472462G>A	OMIM Allelic Variant:610745.0003	C1832661 601186 Microphthalmia syndromic 9
NM_001142617.1(STRA6):c.1931C>T (p.Thr644Met)	64220	STRA6	Pathogenic	118203960	RCV000001195;	N	MedGen:C1832661,OMIM:601186,ORPHA:2470	15	74472494	74472494	NM_001142617.1:c.1931C>T	NP_001136089.1:p.Thr644Met	NC_000015.9:g.74472494G>A	OMIM Allelic Variant:610745.0004	C1832661 601186 Microphthalmia syndromic 9
NM_001142617.1(STRA6):c.1678G>C (p.Asp560His)	64220	STRA6	Pathogenic	397514638	RCV000033165;	N	MedGen:C1832661,OMIM:601186,ORPHA:2470	15	74473642	74473642	NM_001142617.1:c.1678G>C	NP_001136089.1:p.Asp560His	NC_000015.9:g.74473642C>G	OMIM Allelic Variant:610745.0012	C1832661 601186 Microphthalmia syndromic 9
NM_001142617.1(STRA6):c.1521-1G>A	64220	STRA6	Pathogenic	397518484	RCV000074414;	N	MedGen:C1832661,OMIM:601186,ORPHA:2470	15	74473800	74473800	NM_001142617.1:c.1521-1G>A		NC_000015.9:g.74473800C>T	OMIM Allelic Variant:610745.0014	C1832661 601186 Microphthalmia syndromic 9
NM_001142617.1(STRA6):c.1385delA (p.Asn462Thrfs)	64220	STRA6	Pathogenic	794727153	RCV000174950;	N	MedGen:C1832661,OMIM:601186,ORPHA:2470	15	74474717	74474717	NM_001142617.1:c.1385delA	NP_001136089.1:p.Asn462Thrfs	NC_000015.9:g.74474717delT	-	C1832661 601186 Microphthalmia syndromic 9
NM_001142617.1(STRA6):c.961A>C (p.Thr321Pro)	64220	STRA6	Pathogenic	118203962	RCV000001197;	N	MedGen:C1832661,OMIM:601186,ORPHA:2470	15	74481585	74481585	NM_001142617.1:c.961A>C	NP_001136089.1:p.Thr321Pro	NC_000015.9:g.74481585T>G	OMIM Allelic Variant:610745.0006	C1832661 601186 Microphthalmia syndromic 9
NM_001142617.1(STRA6):c.910_911delGGinsAA (p.Gly304Lys)	64220	STRA6	Pathogenic	151341424	RCV000032958; RCV000032957;	N	MedGen:C1832661,OMIM:601186,ORPHA:2470; MedGen:CN160496	15	74483197	74483198	NM_001142617.1:c.910_911delGGinsAA	NP_001136089.1:p.Gly304Lys	NC_000015.9:g.74483197_74483198delCCinsTT	OMIM Allelic Variant:610745.0011	C1832661 601186 Microphthalmia syndromic 9; CN160496 Microphthalmia, isolated, with coloboma 8
NM_001142617.1(STRA6):c.878C>T (p.Pro293Leu)	64220	STRA6	Pathogenic	118203958	RCV000001192;	N	MedGen:C1832661,OMIM:601186,ORPHA:2470	15	74483230	74483230	NM_001142617.1:c.878C>T	NP_001136089.1:p.Pro293Leu	NC_000015.9:g.74483230G>A	OMIM Allelic Variant:610745.0001	C1832661 601186 Microphthalmia syndromic 9
NM_022369.3(STRA6):c.527dupG (p.Ser177Glnfs)	64220	STRA6	Pathogenic	606231127	RCV000001199;	N	MedGen:C1832661,OMIM:601186,ORPHA:2470	15	74487713	74487713	NM_022369.3:c.527dupG	NP_071764.3:p.Ser177Glnfs	NC_000015.9:g.74487713dupC	OMIM Allelic Variant:610745.0008	C1832661 601186 Microphthalmia syndromic 9
NM_001142617.1(STRA6):c.269C>T (p.Pro90Leu)	64220	STRA6	Pathogenic	118203961	RCV000001196;	N	MedGen:C1832661,OMIM:601186,ORPHA:2470	15	74488486	74488486	NM_001142617.1:c.269C>T	NP_001136089.1:p.Pro90Leu	NC_000015.9:g.74488486G>A	OMIM Allelic Variant:610745.0005	C1832661 601186 Microphthalmia syndromic 9
NM_022369.3(STRA6):c.147delC (p.Gly50Alafs)	64220	STRA6	Pathogenic	606231125	RCV000001193;	N	MedGen:C1832661,OMIM:601186,ORPHA:2470	15	74490126	74490126	NM_022369.3:c.147delC	NP_071764.3:p.Gly50Alafs	NC_000015.9:g.74490126delG	OMIM Allelic Variant:610745.0002	C1832661 601186 Microphthalmia syndromic 9
NM_001142617.1(STRA6):c.69G>A (p.Trp23Ter)	64220	STRA6	Pathogenic	267607096	RCV000001201;	N	MedGen:C1832661,OMIM:601186,ORPHA:2470	15	74494540	74494540	NM_001142617.1:c.69G>A	NP_001136089.1:p.Trp23Ter	NC_000015.9:g.74494540C>T	OMIM Allelic Variant:610745.0010	C1832661 601186 Microphthalmia syndromic 9
NM_022369.3(STRA6):c.50_52delACTinsCC (p.Asp17Alafs)	64220	STRA6	Pathogenic	606231126	RCV000001198;	N	MedGen:C1832661,OMIM:601186,ORPHA:2470	15	74494557	74494559	NM_022369.3:c.50_52delACTinsCC	NP_071764.3:p.Asp17Alafs	NC_000015.9:g.74494557_74494559delAGTinsGG	OMIM Allelic Variant:610745.0007	C1832661 601186 Microphthalmia syndromic 9