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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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Disease Browser
Parent Node: Choroid Diseases (D015862)
Parent Node: Eye Diseases, Hereditary (D015785)
Parent Node: Microcephaly (D008831)
Parent Node: Retinal Diseases (D012164)
..Starting node ..Microcephaly with Chorioretinopathy, Autosomal Recessive (C565379)
Child Nodes:
Sister Nodes:
..Al Gazali Sabrinathan Nair syndrome (C535617)
..Angioid Streaks (D000793)
..Ausems Wittebol-Post Hennekam syndrome (C538272)
..Bestrophinopathy (C567518)
..BESTROPHINOPATHY, AUTOSOMAL RECESSIVE (OMIM:611809)
..Bietti Crystalline Dystrophy (C535440)
..Bothnia Retinal Dystrophy (C564392)
..Central Serous Chorioretinopathy (D056833)
..Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..Diabetic Retinopathy (D003930) 1
..Epiretinal Membrane (D019773)
..Exudative Vitreoretinopathy 4 (C566619)
..Exudative Vitreoretinopathy 5 (C567648)
..Familial Exudative Vitreoretinopathy (C580083)
..Fleck Retina, Familial Benign (C565564)
..FLOTCH syndrome (C537065)
..Fundus Albipunctatus (C562733)
..Grouped Pigmentation of the Macula (C565530)
..Hypertensive Retinopathy (D058437)
..Iris hypoplasia and glaucoma (C535538)
..Leber Congenital Amaurosis (D057130) 20
..Microcephaly with Chorioretinopathy, Autosomal Dominant (C563583)
..Microcephaly with Chorioretinopathy, Autosomal Recessive (C565379)
..MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
..Oculomelic amyoplasia (C537737)
..Rambaud Galian syndrome (C535283)
..Ramos Arroyo Clark syndrome (C535286)
..Retinal Aplasia (C566720)
..Retinal Artery Occlusion (D015356) 1
..Retinal Degeneration (D012162) 195
..Retinal Detachment (D012163) 9
..Retinal Dysplasia (D015792) 2
..RETINAL DYSPLASIA, PRIMARY (OMIM:312550)
..Retinal Hemorrhage (D012166) 2
..Retinal Neoplasms (D019572) 3
..Retinal Neovascularization (D015861)
..Retinal Nonattachment, Nonsyndromic Congenital (C565633)
..Retinal Perforations (D012167)
..Retinal Telangiectasis (D058456) 1
..Retinal Vasculitis (D031300) 1
..Retinal Vein Occlusion (D012170)
..Retinitis (D012173) 4
..Retinopathy of Prematurity (D012178)
..Roifman syndrome (C535866)
..Stickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
..Vasculopathy, Retinal, With Cerebral Leukodystrophy (C566007)
..Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179)
..Vitreoretinopathy, Proliferative (D018630) 5
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7202

Name:

Microcephaly with Chorioretinopathy, Autosomal Recessive

Definition:

Alternative IDs:

ParentIDs:

MESH:D008831|MESH:D012164|MESH:D015785|MESH:D015862

TreeNumbers:

C05.660.207.620/C565379 |C10.500.507.400.500/C565379 |C11.270/C565379 |C11.768/C565379 |C11.941.160/C565379 |C16.131.621.207.620/C565379 |C16.131.666.507.400.500/C565379 |C16.320.290/C565379

Synonyms:

Slim Mappings:

Congenital abnormality|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C565379
MeSH: C565379
OMIM: 251270;

Genes: TUBGCP6;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0007703	Abnormality of retinal pigmentation
4	HP:0001000	Abnormality of skin pigmentation
5	HP:0000518	Cataract
6	HP:0001321	Cerebellar hypoplasia
7	HP:0002059	Cerebral atrophy
8	HP:0007731	Chorioretinal dysplasia
9	HP:0001263	Global developmental delay
10	HP:0001249	Intellectual disability
11	HP:0000252	Microcephaly
12	HP:0000568	Microphthalmia
13	HP:0000639	Nystagmus	HP:0040283
14	HP:0000543	Optic disc pallor
15	HP:0001302	Pachygyria
16	HP:0000541	Retinal detachment
17	HP:0000556	Retinal dystrophy
18	HP:0008052	Retinal fold
19	HP:0001250	Seizure	HP:0040283
20	HP:0004322	Short stature
21	HP:0009879	Simplified gyral pattern
22	HP:0000340	Sloping forehead
23	HP:0000505	Visual impairment

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_020461.3(TUBGCP6):c.5458T>G (p.Ter1820Gly)	85378	TUBGCP6	Pathogenic	387907019	RCV000023794;	N	MedGen:C1855056,OMIM:251270	22	50656167	50656167	NM_020461.3:c.5458T>G	NP_065194.2:p.Ter1820Gly	NC_000022.10:g.50656167A>C	OMIM Allelic Variant:610053.0001	C1855056 251270 Microcephaly with chorioretinopathy, autosomal recessive
NM_020461.3(TUBGCP6):c.4333_4334insT (p.His1445Leufs)	85378	TUBGCP6	Pathogenic	727502807	RCV000149797;	N	MedGen:C1855056,OMIM:251270	22	50657867	50657868	NM_020461.3:c.4333_4334insT	NP_065194.2:p.His1445Leufs	NC_000022.10:g.50657867_50657868insA	OMIM Allelic Variant:610053.0002	C1855056 251270 Microcephaly with chorioretinopathy, autosomal recessive
NM_020461.3(TUBGCP6):c.3565G>T (p.Gly1189Ter)	85378	TUBGCP6	Pathogenic	724159976	RCV000149800;	N	MedGen:C1855056,OMIM:251270	22	50659223	50659223	NM_020461.3:c.3565G>T	NP_065194.2:p.Gly1189Ter	NC_000022.10:g.50659223C>A	OMIM Allelic Variant:610053.0005	C1855056 251270 Microcephaly with chorioretinopathy, autosomal recessive
NM_020461.3(TUBGCP6):c.3163C>T (p.His1055Tyr)	85378	TUBGCP6	Pathogenic	724159997	RCV000149801;	N	MedGen:C1855056,OMIM:251270	22	50659625	50659625	NM_020461.3:c.3163C>T	NP_065194.2:p.His1055Tyr	NC_000022.10:g.50659625G>A	OMIM Allelic Variant:610053.0006	C1855056 251270 Microcephaly with chorioretinopathy, autosomal recessive
NM_020461.3(TUBGCP6):c.2546A>G (p.Glu849Gly)	85378	TUBGCP6	Pathogenic	368449236	RCV000149799;	N	MedGen:C1855056,OMIM:251270	22	50660242	50660242	NM_020461.3:c.2546A>G	NP_065194.2:p.Glu849Gly	NC_000022.10:g.50660242T>C	OMIM Allelic Variant:610053.0004	C1855056 251270 Microcephaly with chorioretinopathy, autosomal recessive
NM_020461.3(TUBGCP6):c.2215C>T (p.Arg739Ter)	85378	TUBGCP6	Pathogenic	724159975	RCV000149798;	N	MedGen:C1855056,OMIM:251270	22	50662625	50662625	NM_020461.3:c.2215C>T	NP_065194.2:p.Arg739Ter	NC_000022.10:g.50662625G>A	OMIM Allelic Variant:610053.0003	C1855056 251270 Microcephaly with chorioretinopathy, autosomal recessive