MCID: MCR099
MIFTS: 30

Microlissencephaly

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Microlissencephaly

MalaCards integrated aliases for Microlissencephaly:

Name: Microlissencephaly 59 29 73

Characteristics:

Orphanet epidemiological data:

59
microlissencephaly
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA1083
ICD10 via Orphanet 34 Q04.3
UMLS via Orphanet 74 C1956147
UMLS 73 C1956147

Summaries for Microlissencephaly

MalaCards based summary : Microlissencephaly is related to lissencephaly and microlissencephaly-micromelia syndrome. An important gene associated with Microlissencephaly is KATNB1 (Katanin Regulatory Subunit B1), and among its related pathways/superpathways are Apoptosis Modulation and Signaling and Chaperonin-mediated protein folding. Affiliated tissues include brain, and related phenotypes are Decreased cell migration and Increased shRNA abundance (Z-score > 2)

Wikipedia : 76 Microlissencephaly (MLIS) is a rare congenital brain disorder that combines severe microcephaly (small... more...

Related Diseases for Microlissencephaly

Graphical network of the top 20 diseases related to Microlissencephaly:



Diseases related to Microlissencephaly

Symptoms & Phenotypes for Microlissencephaly

GenomeRNAi Phenotypes related to Microlissencephaly according to GeneCards Suite gene sharing:

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 9.62 ACTG1 CIT CTSD KATNB1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.6 CTSD
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.6 KATNB1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.6 KATNB1 TUBA1A CTSD
5 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.6 TUBA1A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.6 TUBA1A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.6 CTSD
8 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.6 TUBA1A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.6 KATNB1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.6 TUBA1A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.6 KATNB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.6 KATNB1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.6 CTSD
14 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.6 CTSD
15 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.6 TUBA1A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.6 CTSD
17 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.6 CTSD TUBA1A
18 Increased G1 DNA content GR00098-A-1 9.55 CIT NDE1 TUBA1A TUBA3E TUBB2B
19 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.43 ACTG1 CTSD KATNB1
20 Increased number of mitotic cells GR00098-A-3 9.13 TUBA1A TUBA3E TUBB2B

MGI Mouse Phenotypes related to Microlissencephaly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.63 TUBA1A TUBB2B CIT CTSD KATNB1 NDE1
2 growth/size/body region MP:0005378 9.43 ACTG1 CIT CTSD KATNB1 TUBA1A TUBB2B
3 nervous system MP:0003631 9.17 ACTG1 CIT CTSD KATNB1 NDE1 TUBA1A

Drugs & Therapeutics for Microlissencephaly

Search Clinical Trials , NIH Clinical Center for Microlissencephaly

Genetic Tests for Microlissencephaly

Genetic tests related to Microlissencephaly:

# Genetic test Affiliating Genes
1 Microlissencephaly 29

Anatomical Context for Microlissencephaly

MalaCards organs/tissues related to Microlissencephaly:

41
Brain

Publications for Microlissencephaly

Articles related to Microlissencephaly:

# Title Authors Year
1
De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. ( 26732629 )
2016
2
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons. ( 27453579 )
2016
3
Rare ACTG1 variants in fetal microlissencephaly. ( 26188271 )
2015
4
A case of Norman-Roberts syndrome identified from postnatal diagnosis of microlissencephaly. ( 25927602 )
2015
5
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. ( 25059107 )
2014
6
Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature. ( 12571786 )
2002
7
Microlissencephaly with cardiac, spinal and urogenital defects. ( 11446415 )
2001
8
Diffuse pachygyria with cerebellar hypoplasia: a milder form of microlissencephaly or a new genetic syndrome? ( 10514106 )
1999
9
Microlissencephaly. ( 9588537 )
1998
10
Microlissencephaly: a heterogeneous malformation of cortical development. ( 9706619 )
1998

Variations for Microlissencephaly

Expression for Microlissencephaly

Search GEO for disease gene expression data for Microlissencephaly.

Pathways for Microlissencephaly

Pathways related to Microlissencephaly according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.46 ACTG1 CTSD TUBA1A TUBA3E
2
Show member pathways
12.07 TUBA1A TUBA3E TUBB2B
3
Show member pathways
12.05 ACTG1 TUBA1A TUBA3E TUBB2B
4 11.9 ACTG1 TUBA1A TUBA3E
5
Show member pathways
11.87 TUBA1A TUBA3E TUBB2B
6
Show member pathways
11.84 ACTG1 TUBA1A TUBA3E TUBB2B
7
Show member pathways
11.77 TUBA1A TUBA3E TUBB2B
8
Show member pathways
11.67 TUBA1A TUBA3E TUBB2B
9 11.52 TUBA1A TUBA3E TUBB2B
10 11.44 TUBA1A TUBA3E TUBB2B
11 11.44 ACTG1 TUBA1A TUBA3E TUBB2B
12
Show member pathways
10.96 ACTG1 TUBA1A TUBA3E TUBB2B

GO Terms for Microlissencephaly

Cellular components related to Microlissencephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.63 ACTG1 KATNB1 NDE1 TUBA1A TUBA3E TUBB2B
2 cleavage furrow GO:0032154 9.26 CIT NDE1
3 microtubule cytoskeleton GO:0015630 9.26 KATNB1 TUBA1A TUBA3E TUBB2B
4 microtubule GO:0005874 9.02 KATNB1 NDE1 TUBA1A TUBA3E TUBB2B

Biological processes related to Microlissencephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.56 CIT KATNB1 NDE1 TUBA1A
2 cytoskeleton organization GO:0007010 9.54 TUBA1A TUBA3E TUBB2B
3 G2/M transition of mitotic cell cycle GO:0000086 9.5 CIT NDE1 TUBA1A
4 ciliary basal body-plasma membrane docking GO:0097711 9.43 NDE1 TUBA1A
5 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.4 NDE1 TUBA1A
6 microtubule cytoskeleton organization GO:0000226 9.33 TUBA1A TUBA3E TUBB2B
7 microtubule-based process GO:0007017 9.13 TUBA1A TUBA3E TUBB2B
8 mitotic cell cycle GO:0000278 8.92 CIT TUBA1A TUBA3E TUBB2B

Molecular functions related to Microlissencephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.33 TUBA1A TUBA3E TUBB2B
2 GTPase activity GO:0003924 9.13 TUBA1A TUBA3E TUBB2B
3 structural constituent of cytoskeleton GO:0005200 8.92 ACTG1 TUBA1A TUBA3E TUBB2B

Sources for Microlissencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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