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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: Malformations of Cortical Development (D054220)
..Starting node ..Familial schizencephaly (C538514)
Child Nodes:
Sister Nodes:
..BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
..CK SYNDROME (OMIM:300831)
..Cortical Dysplasia of Taylor without Balloon Cells (C564583)
..Cortical Dysplasia-Focal Epilepsy Syndrome (C566482)
..Curatolo Cilio Pessagno syndrome (C536701)
..Familial schizencephaly (C538514)
..Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..Malformations of Cortical Development, Group I (D065703) 172
..Malformations of Cortical Development, Group II (D054081) 35
..Malformations of Cortical Development, Group III (D065704) 4
..Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome (C566381)
..Muller Barth Menger syndrome (C537370)
..Non-lissencephalic cortical dysplasia (C536243)
..Perisylvian syndrome (C536658)
..Pitt-Hopkins-Like Syndrome 1 (C567657)
..Polymicrogyria With Optic Nerve Hypoplasia (C567715)
..Polymicrogyria, Asymmetric (C567658)
..Polymicrogyria, Bilateral Frontoparietal (C564652)
..Polymicrogyria, Bilateral Occipital (C567201)
..POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC (OMIM:610031)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4168

Name:

Familial schizencephaly

Definition:

Alternative IDs:

OMIM:269160

ParentIDs:

MESH:D054220

TreeNumbers:

C10.500.507/C538514 |C16.131.666.507/C538514

Synonyms:

SCHIZENCEPHALY

Slim Mappings:

Congenital abnormality|Nervous system disease

Reference:

MedGen: C538514
MeSH: C538514
OMIM: 269160;

Genes: EMX2; SHH; SIX3;

Phenotypes

HP:0010636

Schizencephaly

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_001845.5(COL4A1):c.3976G>A (p.Gly1326Arg)	1282	COL4A1	Pathogenic	587777379	RCV000119260;	N	MedGen:C0266484,OMIM:269160,ORPHA:799,SNOMED CT:253159001	13	110818624	110818624	NM_001845.5:c.3976G>A	NP_001836.3:p.Gly1326Arg	13:g.110818624C>T	OMIM Allelic Variant:120130.0017	C0266484 269160 SCHIZENCEPHALY
NM_000193.3(SHH):c.869G>A (p.Gly290Asp)	6469	SHH	Likely benign;Pathogenic	104894047	RCV000009437; RCV000023032; RCV000177010;	N	MedGen:C0266484,OMIM:269160,ORPHA:799,SNOMED CT:253159001; MedGen:C1840529,OMIM:142945; MedGen:CN169374	7	155596114	155596114	NM_000193.3:c.869G>A	NP_000184.1:p.Gly290Asp	NC_000007.13:g.155596114C>T	OMIM Allelic Variant:600725.0011	C1840529 142945 Holoprosencephaly 3; CN169374 not specified; C0266484 269160 SCHIZENCEPHALY
NM_005413.3(SIX3):c.109G>T (p.Gly37Cys)	6496	SIX3	Likely benign;Pathogenic	199823175	RCV000023330; RCV000171135; RCV000023331; RCV000173372;	N	MedGen:C0266484,OMIM:269160,ORPHA:799,SNOMED CT:253159001; MedGen:C1834877,OMIM:157170; MedGen:C1840235,OMIM:147250,ORPHA:2286; MedGen:CN169374	2	45169352	45169352	NM_005413.3:c.109G>T	NP_005404.1:p.Gly37Cys	NC_000002.11:g.45169352G>T	OMIM Allelic Variant:603714.0009	C1834877 157170 Holoprosencephaly 2; CN169374 not specified; C0266484 269160 SCHIZENCEPHALY; C1840235 147250 Single upper central incisor
NM_005413.3(SIX3):c.385G>T (p.Glu129Ter)	6496	SIX3	Pathogenic	387906867	RCV000023328; RCV000023329;	N	MedGen:C0266484,OMIM:269160,ORPHA:799,SNOMED CT:253159001; MedGen:C1834877,OMIM:157170	2	45169628	45169628	NM_005413.3:c.385G>T	NP_005404.1:p.Glu129Ter	NC_000002.11:g.45169628G>T	OMIM Allelic Variant:603714.0008	C1834877 157170 Holoprosencephaly 2; C0266484 269160 SCHIZENCEPHALY
NM_005413.3(SIX3):c.499G>T (p.Ala167Ser)	6496	SIX3	Pathogenic	387906868	RCV000023332;	N	MedGen:C0266484,OMIM:269160,ORPHA:799,SNOMED CT:253159001	2	45169742	45169742	NM_005413.3:c.499G>T	NP_005404.1:p.Ala167Ser	NC_000002.11:g.45169742G>T	OMIM Allelic Variant:603714.0010	C0266484 269160 SCHIZENCEPHALY