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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

Disease Browser
Parent Node: Malformations of Cortical Development (D054220)
..Starting node ..Polymicrogyria, Bilateral Occipital (C567201)
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:

9093

Name:

Polymicrogyria, Bilateral Occipital

Definition:

Alternative IDs:

OMIM:612691

ParentIDs:

MESH:D054220

TreeNumbers:

C10.500.507/C567201 |C16.131.666.507/C567201

Synonyms:

BTOP |POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL

Slim Mappings:

Congenital abnormality|Nervous system disease

Reference:

MedGen: C567201
MeSH: C567201
OMIM: 612691;

Genes: AF8T; FIG4;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000718	Aggressive behavior
3	HP:0002384	Focal impaired awareness seizure
4	HP:0002126	Polymicrogyria
5	HP:0002133	Status epilepticus
6	HP:0003828	Variable expressivity
7	HP:0002119	Ventriculomegaly
8	HP:0002367	Visual hallucinations

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	Disease_hgmd
NM_014845.5(FIG4):c.2348A>T (p.Asp783Val)	9896	FIG4	Pathogenic	587777716	RCV000144074;	N	Gene:100294715,MedGen:C2675191,OMIM:612691,ORPHA:208441	6	110112746	110112746	NM_014845.5:c.2348A>T	NP_055660.1:p.Asp783Val	6:g.110112746A>T	OMIM Allelic Variant:609390.0016	C2675191 612691 Polymicrogyria, bilateral occipital