MCID: MCR099
MIFTS: 33

Microlissencephaly

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Microlissencephaly

MalaCards integrated aliases for Microlissencephaly:

Name: Microlissencephaly 58 29 6 71

Characteristics:

Orphanet epidemiological data:

58
microlissencephaly
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q04.3
UMLS via Orphanet 72 C1956147
Orphanet 58 ORPHA1083
UMLS 71 C1956147

Summaries for Microlissencephaly

MalaCards based summary : Microlissencephaly is related to lissencephaly 2 and lissencephaly. An important gene associated with Microlissencephaly is WDR81 (WD Repeat Domain 81), and among its related pathways/superpathways are Apoptosis Modulation and Signaling and Chaperonin-mediated protein folding. Affiliated tissues include brain, fetal brain and eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 74 Microlissencephaly (MLIS) is a rare congenital brain disorder that combines severe microcephaly (small... more...

Related Diseases for Microlissencephaly

Diseases related to Microlissencephaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 lissencephaly 2 32.1 TUBB2B TUBA1A
2 lissencephaly 31.1 TUBA1A NDE1 KATNB1 ACTG1
3 tubulinopathies 29.8 TUBB2B TUBA1A
4 tukel syndrome 29.3 WDR81 TUBB2B TUBA1A
5 hydranencephaly 28.8 WDR81 TUBB2B TUBA1A NDE1
6 primary autosomal recessive microcephaly 28.4 TUBA1A NDE1 KATNB1 CIT
7 microcephaly 27.9 WDR81 TUBA3E TUBA1A NDE1 KATNB1 CIT
8 microlissencephaly-micromelia syndrome 12.2
9 obsolete: microlissencephaly type b 12.2
10 lissencephaly 4 11.9
11 cortical dysplasia, complex, with other brain malformations 7 11.6
12 cerebellar hypoplasia 10.3
13 pachygyria 10.3
14 corpus callosum, agenesis of 10.2
15 alacrima, achalasia, and mental retardation syndrome 10.2
16 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.2
17 polymicrogyria 10.2
18 hypertelorism 10.0
19 microcephalic osteodysplastic primordial dwarfism, type i 10.0
20 hydrocephalus, congenital, 1 10.0
21 isolated growth hormone deficiency, type ia 10.0
22 roberts syndrome 10.0
23 ataxia and polyneuropathy, adult-onset 10.0
24 microhydranencephaly 10.0
25 lissencephaly 3 10.0
26 cortical dysplasia, complex, with other brain malformations 1 10.0
27 pontocerebellar hypoplasia, type 1b 10.0
28 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.0
29 microcephaly 17, primary, autosomal recessive 10.0
30 alkuraya-kucinskas syndrome 10.0
31 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 10.0
32 distal arthrogryposis 10.0
33 baraitser-winter syndrome 10.0
34 pontocerebellar hypoplasia 10.0
35 primary microcephaly 10.0
36 spinal muscular atrophy 10.0
37 muscular atrophy 10.0
38 baraitser-winter cerebrofrontofacial syndrome 10.0
39 dwarfism 10.0
40 hypotonia 10.0
41 spasticity 10.0
42 cerebellar malformation 10.0
43 congenital amyoplasia 10.0
44 rhombencephalosynapsis 10.0
45 tubulinopathy-associated dysgyria 9.8 TUBB2B TUBA1A
46 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 9.8 WDR81 TUBB2B
47 paralytic squint 9.7 TUBB2B TUBA1A
48 miller-dieker lissencephaly syndrome 9.4 TUBB2B TUBA1A NDE1
49 congenital nervous system abnormality 9.3 TUBB2B TUBA1A NDE1
50 periventricular nodular heterotopia 9.1 TUBB2B TUBA1A NDE1

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 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.6 CTSD
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.6 KATNB1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.6 CTSD KATNB1 TUBA1A
4 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.6 TUBA1A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.6 TUBA1A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.6 CTSD
7 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.6 TUBA1A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.6 KATNB1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.6 TUBA1A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.6 KATNB1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.6 KATNB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.6 CTSD
13 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.6 CTSD
14 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.6 TUBA1A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.6 CTSD
16 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.6 CTSD TUBA1A
17 Decreased cell migration GR00055-A-1 9.56 ACTG1 CIT CTSD KATNB1
18 Increased G2M DNA content, increased 8N DNA content GR00098-A-1 9.55 CIT NDE1 TUBA1A TUBA3E TUBB2B
19 Increased number of mitotic cells GR00098-A-3 9.13 TUBA1A TUBA3E TUBB2B

MGI Mouse Phenotypes related to Microlissencephaly:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.7 CIT CTSD KATNB1 NDE1 TUBA1A TUBB2B
2 growth/size/body region MP:0005378 9.5 ACTG1 CIT CTSD KATNB1 TUBA1A TUBB2B
3 nervous system MP:0003631 9.23 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:

40
Brain, Fetal Brain, Eye, Cortex

Publications for Microlissencephaly

Articles related to Microlissencephaly:

(show all 38)
# Title Authors PMID Year
1
Katanin p80 regulates human cortical development by limiting centriole and cilia number. 61 6
25521379 2014
2
Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. 61 6
21529751 2011
3
The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. 61 6
21529752 2011
4
Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. 6
25521378 2014
5
Prenatal sonographic diagnosis of Dandy-Walker malformation and type III lissencephaly: A novel association. 61
31859376 2019
6
Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B. 61
31770597 2019
7
Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly. 61
31586943 2019
8
Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly. 61
30637988 2019
9
Tubulin genes and malformations of cortical development. 61
30016746 2018
10
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells. 61
28969387 2017
11
Value of Repeat Brain MRI in Children with Focal Epilepsy and Negative Findings on Initial MRI. 61
28670168 2017
12
Katanin p80, NuMA and cytoplasmic dynein cooperate to control microtubule dynamics. 61
28079116 2017
13
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons. 61
27453579 2016
14
[Neu-Laxova syndrome: Three case reports and a review of the literature]. 61
27475004 2016
15
De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. 61
26732629 2016
16
Tubulinopathies Overview 61
27010057 2016
17
Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain. 61
26599961 2016
18
TUBA1A Mutation Associated With Eye Abnormalities in Addition to Brain Malformation. 61
26294046 2015
19
Rare ACTG1 variants in fetal microlissencephaly. 61
26188271 2015
20
A case of Norman-Roberts syndrome identified from postnatal diagnosis of microlissencephaly. 61
25927602 2015
21
Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype. 61
25755095 2015
22
Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias. 61
26052266 2015
23
Severe presentation of WDR62 mutation: is there a role for modifying genetic factors? 61
24842779 2014
24
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. 61
25059107 2014
25
The wide spectrum of tubulinopathies: what are the key features for the diagnosis? 61
24860126 2014
26
Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly. 61
22526350 2012
27
Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations. 61
21496009 2011
28
Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III. 61
20857301 2011
29
Lissencephalic syndromes: brain and beyond. 61
20036930 2010
30
[Genetic and clinical aspects of lissencephaly]. 61
17571022 2007
31
Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia. 61
15794192 2005
32
Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature. 61
12571786 2002
33
Microlissencephaly with cardiac, spinal and urogenital defects. 61
11446415 2001
34
Diffuse pachygyria with cerebellar hypoplasia: a milder form of microlissencephaly or a new genetic syndrome? 61
10514106 1999
35
Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis. 61
10480209 1999
36
Microlissencephaly: a heterogeneous malformation of cortical development. 61
9706619 1998
37
Microlissencephaly. 61
9588537 1998
38
Lissencephaly with extreme cerebral and cerebellar hypoplasia. A magnetic resonance imaging study. 61
8971750 1996

Variations for Microlissencephaly

ClinVar genetic disease variations for Microlissencephaly:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WDR81 NM_001163673.1(WDR81):c.1059_1060del (p.Gly354fs)deletion Pathogenic 635849 17:1636999-1637000 17:1733705-1733706

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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.48 TUBA3E TUBA1A CTSD ACTG1
2
Show member pathways
12.09 TUBB2B TUBA3E TUBA1A
3
Show member pathways
12.03 TUBB2B TUBA3E TUBA1A ACTG1
4
Show member pathways
11.94 TUBB2B TUBA3E TUBA1A ACTG1
5 11.91 TUBA3E TUBA1A ACTG1
6
Show member pathways
11.89 TUBB2B TUBA3E TUBA1A
7
Show member pathways
11.79 TUBB2B TUBA3E TUBA1A
8 11.76 TUBB2B TUBA3E TUBA1A ACTG1
9
Show member pathways
11.7 TUBB2B TUBA3E TUBA1A
10 11.56 TUBB2B TUBA3E TUBA1A
11 11.49 TUBB2B TUBA3E TUBA1A
12 11.44 TUBB2B TUBA3E TUBA1A ACTG1
13
Show member pathways
10.96 TUBB2B TUBA3E TUBA1A ACTG1

GO Terms for Microlissencephaly

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.86 WDR81 TUBB2B TUBA3E TUBA1A NDE1 KATNB1
2 microtubule cytoskeleton GO:0015630 9.46 TUBB2B TUBA3E TUBA1A KATNB1
3 microtubule GO:0005874 9.35 TUBB2B TUBA3E TUBA1A NDE1 KATNB1
4 cleavage furrow GO:0032154 9.32 NDE1 CIT
5 cytoskeleton GO:0005856 9.17 TUBB2B TUBA3E TUBA1A NDE1 KATNB1 CIT

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 TUBA1A NDE1 KATNB1 CIT
2 G2/M transition of mitotic cell cycle GO:0000086 9.5 TUBA1A NDE1 CIT
3 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.37 TUBA1A NDE1
4 microtubule cytoskeleton organization GO:0000226 9.33 TUBB2B TUBA3E TUBA1A
5 microtubule-based process GO:0007017 9.13 TUBB2B TUBA3E TUBA1A
6 mitotic cell cycle GO:0000278 8.92 TUBB2B TUBA3E TUBA1A CIT

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.91 WDR81 TUBB2B TUBA3E TUBA1A NDE1 KATNB1
2 GTP binding GO:0005525 9.33 TUBB2B TUBA3E TUBA1A
3 GTPase activity GO:0003924 9.13 TUBB2B TUBA3E TUBA1A
4 structural constituent of cytoskeleton GO:0005200 8.92 TUBB2B TUBA3E TUBA1A ACTG1

Sources for Microlissencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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