MCID: PLY050
MIFTS: 28

Polymicrogyria with Optic Nerve Hypoplasia

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Polymicrogyria with Optic Nerve Hypoplasia

MalaCards integrated aliases for Polymicrogyria with Optic Nerve Hypoplasia:

Name: Polymicrogyria with Optic Nerve Hypoplasia 58 29 6

Characteristics:

Orphanet epidemiological data:

58
polymicrogyria with optic nerve hypoplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

UMLS via Orphanet 71 C2750798
Orphanet 58 ORPHA250972

Summaries for Polymicrogyria with Optic Nerve Hypoplasia

MalaCards based summary : Polymicrogyria with Optic Nerve Hypoplasia is related to lissencephaly and lissencephaly 1. An important gene associated with Polymicrogyria with Optic Nerve Hypoplasia is TUBA8 (Tubulin Alpha 8), and among its related pathways/superpathways are Neuroscience and Cytoskeletal Signaling. Affiliated tissues include eye, and related phenotypes are neonatal hypotonia and absent speech

Related Diseases for Polymicrogyria with Optic Nerve Hypoplasia

Graphical network of the top 20 diseases related to Polymicrogyria with Optic Nerve Hypoplasia:



Diseases related to Polymicrogyria with Optic Nerve Hypoplasia

Symptoms & Phenotypes for Polymicrogyria with Optic Nerve Hypoplasia

Human phenotypes related to Polymicrogyria with Optic Nerve Hypoplasia:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neonatal hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001319
2 absent speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001344
3 hyporeflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001265
4 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
5 polymicrogyria 58 31 hallmark (90%) Very frequent (99-80%) HP:0002126
6 colpocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0030048
7 optic nerve hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000609
8 agenesis of corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001274
9 bilateral tonic-clonic seizure 31 frequent (33%) HP:0002069
10 infantile spasms 58 31 occasional (7.5%) Occasional (29-5%) HP:0012469
11 hypoplasia of the brainstem 58 31 occasional (7.5%) Occasional (29-5%) HP:0002365
12 dysplastic corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0006989
13 seizures 58 Very frequent (99-80%)
14 abnormality of the nervous system 58 Very frequent (99-80%)
15 generalized tonic-clonic seizures 58 Frequent (79-30%)

Drugs & Therapeutics for Polymicrogyria with Optic Nerve Hypoplasia

Search Clinical Trials , NIH Clinical Center for Polymicrogyria with Optic Nerve Hypoplasia

Genetic Tests for Polymicrogyria with Optic Nerve Hypoplasia

Genetic tests related to Polymicrogyria with Optic Nerve Hypoplasia:

# Genetic test Affiliating Genes
1 Polymicrogyria with Optic Nerve Hypoplasia 29

Anatomical Context for Polymicrogyria with Optic Nerve Hypoplasia

MalaCards organs/tissues related to Polymicrogyria with Optic Nerve Hypoplasia:

40
Eye

Publications for Polymicrogyria with Optic Nerve Hypoplasia

Articles related to Polymicrogyria with Optic Nerve Hypoplasia:

# Title Authors PMID Year
1
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. 61 6
19896110 2009

Variations for Polymicrogyria with Optic Nerve Hypoplasia

ClinVar genetic disease variations for Polymicrogyria with Optic Nerve Hypoplasia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TUBA8 NM_018943.3(TUBA8):c.4-21_4-8del Deletion Pathogenic 4782 rs878853254 GRCh37: 22:18604222-18604235
GRCh38: 22:18121455-18121468
2 TUBA8 NM_018943.3(TUBA8):c.661C>T (p.Arg221Cys) SNV Uncertain significance 562019 rs140547351 GRCh37: 22:18609406-18609406
GRCh38: 22:18126639-18126639
3 TUBA8 NM_018943.3(TUBA8):c.728G>A (p.Arg243His) SNV Uncertain significance 592146 rs768178362 GRCh37: 22:18609473-18609473
GRCh38: 22:18126706-18126706
4 TUBA8 NM_018943.3(TUBA8):c.1117C>T (p.Arg373Trp) SNV Uncertain significance 448843 rs773537011 GRCh37: 22:18613670-18613670
GRCh38: 22:18130903-18130903
5 TUBA8 NM_018943.3(TUBA8):c.967G>A (p.Val323Met) SNV Uncertain significance 425280 rs151102020 GRCh37: 22:18609712-18609712
GRCh38: 22:18126945-18126945
6 TUBA8 NM_018943.3(TUBA8):c.958C>T (p.Arg320Trp) SNV Uncertain significance 160175 rs140202346 GRCh37: 22:18609703-18609703
GRCh38: 22:18126936-18126936
7 TUBA8 NM_018943.3(TUBA8):c.5G>A (p.Arg2Gln) SNV Uncertain significance 1033914 GRCh37: 22:18604247-18604247
GRCh38: 22:18121480-18121480
8 TUBA8 NM_018943.3(TUBA8):c.727C>T (p.Arg243Cys) SNV Uncertain significance 1033915 GRCh37: 22:18609472-18609472
GRCh38: 22:18126705-18126705

Expression for Polymicrogyria with Optic Nerve Hypoplasia

Search GEO for disease gene expression data for Polymicrogyria with Optic Nerve Hypoplasia.

Pathways for Polymicrogyria with Optic Nerve Hypoplasia

Pathways related to Polymicrogyria with Optic Nerve Hypoplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.69 PAFAH1B1 DCX
2 11.44 PAFAH1B1 DCX
3 10.11 PAFAH1B1 DCX

GO Terms for Polymicrogyria with Optic Nerve Hypoplasia

Cellular components related to Polymicrogyria with Optic Nerve Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.33 TUBA8 PAFAH1B1 DCX
2 neuron projection GO:0043005 9.32 PAFAH1B1 DCX
3 microtubule cytoskeleton GO:0015630 9.26 TUBA8 PAFAH1B1
4 microtubule associated complex GO:0005875 8.96 PAFAH1B1 DCX
5 microtubule GO:0005874 8.8 TUBA8 PAFAH1B1 DCX

Biological processes related to Polymicrogyria with Optic Nerve Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.37 PAFAH1B1 DCX
2 microtubule cytoskeleton organization GO:0000226 9.32 TUBA8 PAFAH1B1
3 neuron migration GO:0001764 9.26 PAFAH1B1 DCX
4 hippocampus development GO:0021766 9.16 PAFAH1B1 DCX
5 microtubule-based process GO:0007017 8.96 TUBA8 PAFAH1B1
6 layer formation in cerebral cortex GO:0021819 8.62 PAFAH1B1 DCX

Molecular functions related to Polymicrogyria with Optic Nerve Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 8.62 PAFAH1B1 DCX

Sources for Polymicrogyria with Optic Nerve Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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