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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: Esophageal Atresia (D004933)
Parent Node: Microphthalmos (D008850)
Parent Node: Nervous System Malformations (D009421)
..Starting node ..Microphthalmia, Syndromic 3 (C565948)
Child Nodes:
Sister Nodes:
..Agenesis of Corpus Callosum (D061085) 59
..Aicardi-Goutieres syndrome (C535607) 1
..Aicardi-Goutieres Syndrome 3 (C563683)
..Aicardi-Goutieres Syndrome 4 (C563681)
..Aicardi-Goutieres syndrome 5 (C535608)
..Athabaskan brainstem dysgenesis (C535397)
..Central Nervous System Cysts (D020863) 11
..Central Nervous System Vascular Malformations (D020785) 10
..Cerebellar Hypoplasia (C562568)
..Chromosome 17p13.3 Duplication Syndrome (C567705)
..Dandy-Walker Syndrome (D003616) 13
..Drachtman Weinblatt Sitarz syndrome (C535603)
..Hereditary Sensory and Autonomic Neuropathies (D009477) 12
..Hereditary Sensory and Motor Neuropathy (D015417) 164
..Hydranencephaly (D006832) 3
..Malformations of Cortical Development (D054220) 226
..Median-Ulnar Nerve Communications (C563598)
..Microphthalmia, Syndromic 3 (C565948)
..Microphthalmia, Syndromic 6 (C566440)
..Neural Tube Defects (D009436) 55
..Schisis association (C536633)
..Septo-Optic Dysplasia (D025962) 6
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7242

Name:

Microphthalmia, Syndromic 3

Definition:

Alternative IDs:

OMIM:206900

ParentIDs:

MESH:D004933|MESH:D008850|MESH:D009421

TreeNumbers:

C06.198.330/C565948 |C06.405.117.260/C565948 |C10.500/C565948 |C11.250.566/C565948 |C16.131.314.330/C565948 |C16.131.384.666/C565948 |C16.131.666/C565948

Synonyms:

Slim Mappings:

Congenital abnormality|Digestive system disease|Eye disease|Nervous system disease

Reference:

MedGen: C565948
MeSH: C565948
OMIM: 206900;

Genes: SOX2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001274	Agenesis of corpus callosum
3	HP:0000528	Anophthalmia
4	HP:0010627	Anterior pituitary hypoplasia
5	HP:0003316	Butterfly vertebrae
6	HP:0000589	Coloboma
7	HP:0000028	Cryptorchidism
8	HP:0002032	Esophageal atresia
9	HP:0002007	Frontal bossing
10	HP:0001290	Generalized hypotonia
11	HP:0001263	Global developmental delay
12	HP:0002937	Hemivertebrae
13	HP:0000044	Hypogonadotropic hypogonadism
14	HP:0002079	Hypoplasia of the corpus callosum
15	HP:0000047	Hypospadias
16	HP:0002444	Hypothalamic hamartoma
17	HP:0001252	Hypotonia
18	HP:0000252	Microcephaly
19	HP:0000054	Micropenis
20	HP:0000568	Microphthalmia
21	HP:0000921	Missing ribs
22	HP:0000609	Optic nerve hypoplasia
23	HP:0001643	Patent ductus arteriosus
24	HP:0008897	Postnatal growth retardation
25	HP:0000902	Rib fusion
26	HP:0000407	Sensorineural hearing impairment
27	HP:0004322	Short stature
28	HP:0001264	Spastic diplegia
29	HP:0002510	Spastic tetraplegia
30	HP:0001328	Specific learning disability
31	HP:0005815	Supernumerary ribs
32	HP:0001629	Ventricular septal defect
33	HP:0002948	Vertebral fusion
34	HP:0008417	Vertebral hypoplasia

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_003106.3(SOX2):c.58_59dupGG (p.Gly21Alafs)	-1	-	Pathogenic	398122803	RCV000022771;	N	MedGen:C1859773,OMIM:206900,ORPHA:77298	3	181430206	181430207	NM_003106.3:c.58_59dupGG	NP_003097.1:p.Gly21Alafs	NC_000003.11:g.181430206_181430207dupGG	OMIM Allelic Variant:184429.0016	C1859773 206900 Microphthalmia syndromic 3
NM_003106.3(SOX2):c.138T>G (p.Asn46Lys)	-1	-	Pathogenic	104893806	RCV000013670;	N	MedGen:C1859773,OMIM:206900,ORPHA:77298	3	181430286	181430286	NM_003106.3:c.138T>G	NP_003097.1:p.Asn46Lys	NC_000003.11:g.181430286T>G	OMIM Allelic Variant:184429.0009	C1859773 206900 Microphthalmia syndromic 3
NM_003106.3(SOX2):c.143_144delTCinsAA (p.Phe48Ter)	-1	-	Pathogenic	398122915	RCV000033025;	N	MedGen:C1859773,OMIM:206900,ORPHA:77298	3	181430291	181430292	NM_003106.3:c.143_144delTCinsAA	NP_003097.1:p.Phe48Ter	NC_000003.11:g.181430291_181430292delTCinsAA	OMIM Allelic Variant:184429.0018	C1859773 206900 Microphthalmia syndromic 3
NM_003106.3(SOX2):c.163C>T (p.Gln55Ter)	-1	-	Pathogenic	104893804	RCV000013668;	N	MedGen:C1859773,OMIM:206900,ORPHA:77298	3	181430311	181430311	NM_003106.3:c.163C>T	NP_003097.1:p.Gln55Ter	NC_000003.11:g.181430311C>T	OMIM Allelic Variant:184429.0007	C1859773 206900 Microphthalmia syndromic 3
NM_003106.3(SOX2):c.221G>C (p.Arg74Pro)	-1	-	Pathogenic	104893805	RCV000013669;	N	MedGen:C1859773,OMIM:206900,ORPHA:77298	3	181430369	181430369	NM_003106.3:c.221G>C	NP_003097.1:p.Arg74Pro	NC_000003.11:g.181430369G>C	OMIM Allelic Variant:184429.0008	C1859773 206900 Microphthalmia syndromic 3
NM_003106.3(SOX2):c.245T>A (p.Leu82Ter)	-1	-	Pathogenic	387906688	RCV000022772;	N	MedGen:C1859773,OMIM:206900,ORPHA:77298	3	181430393	181430393	NM_003106.3:c.245T>A	NP_003097.1:p.Leu82Ter	NC_000003.11:g.181430393T>A	OMIM Allelic Variant:184429.0017	C1859773 206900 Microphthalmia syndromic 3
NM_003106.3(SOX2):c.248C>A (p.Ser83Ter)	-1	-	Pathogenic	104893801	RCV000013664;	N	MedGen:C1859773,OMIM:206900,ORPHA:77298	3	181430396	181430396	NM_003106.3:c.248C>A	NP_003097.1:p.Ser83Ter	NC_000003.11:g.181430396C>A	OMIM Allelic Variant:184429.0003	C1859773 206900 Microphthalmia syndromic 3
NM_003106.3(SOX2):c.277G>T (p.Glu93Ter)	-1	-	Pathogenic	104893800	RCV000013663;	N	MedGen:C1859773,OMIM:206900,ORPHA:77298	3	181430425	181430425	NM_003106.3:c.277G>T	NP_003097.1:p.Glu93Ter	NC_000003.11:g.181430425G>T	OMIM Allelic Variant:184429.0002	C1859773 206900 Microphthalmia syndromic 3
NM_003106.3(SOX2):c.290T>C (p.Leu97Pro)	-1	-	Pathogenic	104893802	RCV000013665;	N	MedGen:C1859773,OMIM:206900,ORPHA:77298	3	181430438	181430438	NM_003106.3:c.290T>C	NP_003097.1:p.Leu97Pro	NC_000003.11:g.181430438T>C	OMIM Allelic Variant:184429.0004	C1859773 206900 Microphthalmia syndromic 3
NM_003106.3(SOX2):c.463C>T (p.Gln155Ter)	-1	-	Pathogenic	104893803	RCV000013666;	N	MedGen:C1859773,OMIM:206900,ORPHA:77298	3	181430611	181430611	NM_003106.3:c.463C>T	NP_003097.1:p.Gln155Ter	NC_000003.11:g.181430611C>T	OMIM Allelic Variant:184429.0005	C1859773 206900 Microphthalmia syndromic 3
NM_003106.3(SOX2):c.529C>T (p.Gln177Ter)	-1	-	Pathogenic	104893799	RCV000013662;	N	MedGen:C1859773,OMIM:206900,ORPHA:77298	3	181430677	181430677	NM_003106.3:c.529C>T	NP_003097.1:p.Gln177Ter	NC_000003.11:g.181430677C>T	OMIM Allelic Variant:184429.0001	C1859773 206900 Microphthalmia syndromic 3
NM_003106.3(SOX2):c.551delC (p.Pro184Argfs)	-1	-	Pathogenic	587776776	RCV000013676;	N	MedGen:C1859773,OMIM:206900,ORPHA:77298	3	181430699	181430699	NM_003106.3:c.551delC	NP_003097.1:p.Pro184Argfs		OMIM Allelic Variant:184429.0015	C1859773 206900 Microphthalmia syndromic 3
NM_003106.3(SOX2):c.837delC (p.Gly280Alafs)	-1	-	Pathogenic	398122916	RCV000033026;	N	MedGen:C1859773,OMIM:206900,ORPHA:77298	3	181430985	181430985	NM_003106.3:c.837delC	NP_003097.1:p.Gly280Alafs	NC_000003.11:g.181430985delC	OMIM Allelic Variant:184429.0019	C1859773 206900 Microphthalmia syndromic 3