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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 With Optic Nerve Hypoplasia (C567715)
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:

9095

Name:

Polymicrogyria With Optic Nerve Hypoplasia

Definition:

Alternative IDs:

OMIM:613180

ParentIDs:

MESH:D054220

TreeNumbers:

C10.500.507/C567715 |C16.131.666.507/C567715

Synonyms:

Slim Mappings:

Congenital abnormality|Nervous system disease

Reference:

MedGen: C567715
MeSH: C567715
OMIM: 613180;

Genes: TUBA8;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0030048	Colpocephaly
4	HP:0001263	Global developmental delay
5	HP:0002365	Hypoplasia of the brainstem
6	HP:0001265	Hyporeflexia
7	HP:0002187	Intellectual disability, profound
8	HP:0000252	Microcephaly
9	HP:0001319	Neonatal hypotonia
10	HP:0000609	Optic nerve hypoplasia
11	HP:0002126	Polymicrogyria
12	HP:0001250	Seizure

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_018943.2(TUBA8):c.958C>T (p.Arg320Trp)	51807	TUBA8	Uncertain significance	140202346	RCV000147831;	N	MedGen:C2750798,OMIM:613180,ORPHA:250972	22	18609703	18609703	NM_018943.2:c.958C>T	NP_061816.1:p.Arg320Trp	NC_000022.10:g.18609703C>T	-	C2750798 613180 Polymicrogyria with optic nerve hypoplasia