Microlissencephaly disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Orphanet: ⁵⁸ Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.

MalaCards based summary: Microlissencephaly is related to lissencephaly 4 and corpus callosum, agenesis of. An important gene associated with Microlissencephaly is WDR81 (WD Repeat Domain 81), and among its related pathways/superpathways are Signal Transduction and Signaling by Rho GTPases. Affiliated tissues include brain, cortex and fetal brain, and related phenotypes are microcephaly and global developmental delay

Disease Ontology: ¹¹ A lissencephaly characterized by lissencephaly in combination with severe congenital microcephaly.

Wikipedia: ⁷⁵ Microlissencephaly (MLIS) is a rare congenital brain disorder that combines severe microcephaly (small... more...

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Related Diseases for Microlissencephaly

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

(show top 50) (show all 87)

#	Related Disease	Score	Top Affiliating Genes
1	lissencephaly 4	32.3	PAFAH1B1 NDEL1 NDE1
2	corpus callosum, agenesis of	30.5	TUBA1A CDK5RAP2
3	hydranencephaly	30.0	WDR81 TUBA1A NDE1
4	lissencephaly 2	29.9	WDR62 TUBG1 TUBB2B TUBB2A TUBA1A RELN
5	cerebellar hypoplasia	29.9	WDR81 RELN PAFAH1B1
6	lissencephaly 3	29.9	TUBA1A PAFAH1B1 CENPJ
7	baraitser-winter syndrome	29.7	TUBB2B TUBA1A
8	lissencephaly 1	29.5	TUBA1A RELN PAFAH1B1 NDEL1 NDE1
9	pontocerebellar hypoplasia	29.3	WDR81 WDR62 TUBB2B TUBA8 TUBA1A RELN
10	polymicrogyria	29.2	WDR62 TUBG1 TUBB2B TUBB2A TUBA8 TUBA1A
11	lissencephaly	29.1	WDR62 TUBG1 TUBB2B TUBA8 TUBA3E TUBA1A
12	microcephaly 17, primary, autosomal recessive	28.9	WDR62 STIL CEP152 CENPJ CDK5RAP2 ASPM
13	isolated growth hormone deficiency, type ia	28.8	WDR62 STIL CEP152 CENPJ CDK5RAP2 ASPM
14	microcephaly	28.2	WDR81 WDR62 TUBG1 TUBA1A STIL NDEL1
15	primary microcephaly	28.1	WDR62 TUBG1 TUBA3E TUBA1A STIL NDE1
16	tubulinopathy	27.9	WDR62 TUBG1 TUBB6 TUBB2B TUBB2A TUBA8
17	microlissencephaly-micromelia syndrome	11.3
18	cortical dysplasia, complex, with other brain malformations 7	11.1
19	lissencephaly 6	10.9
20	tubulinopathy-associated dysgyria	10.2	TUBB2B TUBA1A
21	bilateral generalized polymicrogyria	10.2	WDR62 TUBB2B
22	intellectual disability - hypoplastic corpus callosum - preauricular tag	10.2	TUBA1A CDK5RAP2
23	hypomelanosis of ito	10.2	TUBA1A PAFAH1B1
24	chromosome 15q11.2 deletion syndrome	10.1	TUBG1 PAFAH1B1
25	microcephaly 11, primary, autosomal recessive	10.1	WDR62 CENPJ
26	chromosome 17p13.3, centromeric, duplication syndrome	10.1	WDR81 PAFAH1B1 NDEL1
27	zika virus congenital syndrome	10.1	STIL CDK5RAP2
28	neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities	10.1	WDR62 CEP152
29	aicardi syndrome	10.0	WDR62 TUBB2B
30	microcephaly 1, primary, autosomal recessive	10.0	CENPJ ASPM
31	leukodystrophy, hypomyelinating, 6	10.0	TUBB2B TUBB2A TUBA8 TUBA1A
32	seckel syndrome 4	10.0	CENPJ CDK5RAP2 ASPM
33	microcephaly 16, primary, autosomal recessive	10.0	WDR62 CEP152 CENPJ
34	seckel syndrome 5	10.0	CEP152 CENPJ
35	microcephaly 6, primary, autosomal recessive	10.0	WDR62 CEP152 CENPJ
36	isolated growth hormone deficiency	9.9	CEP152 CENPJ CDK5RAP2
37	complex cortical dysplasia with other brain malformations	9.9	TUBB2B TUBB2A KIF5C
38	seckel syndrome 2	9.9	CEP152 CENPJ CDK5RAP2
39	tubulin, beta	9.9	TUBB6 TUBB2B TUBB2A
40	neuronal migration disorders	9.9	WDR62 TUBA1A RELN
41	arthrogryposis, distal, type 1a	9.8
42	hypertelorism	9.8
43	fetal akinesia deformation sequence 1	9.8
44	microcephalic osteodysplastic primordial dwarfism, type i	9.8
45	hydrocephalus, congenital, 1	9.8
46	baraitser-winter syndrome 1	9.8
47	pseudovaginal perineoscrotal hypospadias	9.8
48	roberts-sc phocomelia syndrome	9.8
49	microhydranencephaly	9.8
50	cortical dysplasia, complex, with other brain malformations 1	9.8

Graphical network of the top 20 diseases related to Microlissencephaly:

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Symptoms & Phenotypes for Microlissencephaly

Human phenotypes related to Microlissencephaly:

⁵⁸ ³⁰ (show all 23)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	microcephaly ⁵⁸ ³⁰	Obligate (100%)	Obligate (100%)	HP:0000252
2	global developmental delay ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001263
3	delayed speech and language development ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000750
4	intellectual disability, severe ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0010864
5	hypoplasia of the corpus callosum ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002079
6	cerebral dysmyelination ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0007266
7	neuronal loss in the cerebral cortex ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0007190
8	bilateral tonic-clonic seizure with generalized onset ³⁰	Hallmark (90%)		HP:0025190
9	hyperreflexia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001347
10	abnormal facial shape ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001999
11	hypertonia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001276
12	ventriculomegaly ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002119
13	cerebral cortical atrophy ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002120
14	thick cerebral cortex ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0006891
15	polymicrogyria ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002126
16	pachygyria ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001302
17	cerebellar atrophy ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001272
18	pneumonia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002090
19	periventricular heterotopia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0007165
20	simplified gyral pattern ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0009879
21	subcortical heterotopia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0032391
22	lissencephaly ⁵⁸		Frequent (79-30%)
23	generalized tonic-clonic seizures without focal onset ⁵⁸		Very frequent (99-80%)

MGI Mouse Phenotypes related to Microlissencephaly:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	10.06	ASPM CDK5RAP2 CENPJ CEP152 KATNB1 KIF5C
2	embryo	MP:0005380	9.56	CENPJ CEP152 KATNB1 NDE1 NDEL1 PAFAH1B1
3	cellular	MP:0005384	9.53	ASPM CDK5RAP2 CENPJ CEP152 KATNB1 KIF5C

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Drugs & Therapeutics for Microlissencephaly

Search Clinical Trials, NIH Clinical Center for Microlissencephaly

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Genetic Tests for Microlissencephaly

Genetic tests related to Microlissencephaly:

#	Genetic test	Affiliating Genes
1	Microlissencephaly ²⁸

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Anatomical Context for Microlissencephaly

Organs/tissues related to Microlissencephaly:

MalaCards : Brain, Cortex, Fetal Brain, Eye

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Publications for Microlissencephaly

Articles related to Microlissencephaly:

(show all 45)

#	Title	Authors	PMID	Year
1	Tubulin mutations in human neurodevelopmental disorders. ⁶²	Maillard C...Buisson NB	35915025	2023
2	Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita. ⁶²	Weber M...Martinovic J	35686685	2022
3	Neurological outcome in WDR62 primary microcephaly. ⁶²	Ruaud L...Passemard S	35726608	2022
4	Magnetic Resonance Imaging of Malformations of Cortical Development-A Comprehensive Review. ⁶²	Khandelwal A...Bose A	34896352	2022
5	NDE1-related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly. ⁶²	Bas H...Artan S	34562061	2022
6	A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia. ⁶²	Kalmar T...Sztriha L	33996189	2021
7	Two different prenatal imaging cerebral patterns of tubulinopathy. ⁶²	Cabet S...Guibaud L	32149430	2021
8	Electrographic pattern recognition: A simple tool to predict clinical outcome in children with lissencephaly. ⁶²	Jauhari P...Gulati S	33161247	2020
9	[Microlissencephaly due to pathogenic variants of NDE1: from pathology to normal brain development]. ⁶²	Cabet S...Sanlaville D	33026328	2020
10	Prenatal sonographic diagnosis of Dandy-Walker malformation and type III lissencephaly: A novel association. ⁶²	Darouich S...Amraoui N	31859376	2020
11	Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B. ⁶²	Saugier-Veber P...Laquerriere A	31770597	2020
12	Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly. ⁶²	Ghosh SG...Gleeson JG	31586943	2020
13	Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly. ⁶²	Abdel-Hamid MS...Abdel-Salam GMH	30637988	2019
14	Tubulin genes and malformations of cortical development. ⁶²	Romaniello R...Cushion TD	30016746	2018
15	WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells. ⁶²	Cavallin M...Bahi-Buisson N	28969387	2017
16	Value of Repeat Brain MRI in Children with Focal Epilepsy and Negative Findings on Initial MRI. ⁶²	Jeon TY...Lee M	28670168	2017
17	Katanin p80, NuMA and cytoplasmic dynein cooperate to control microtubule dynamics. ⁶²	Jin M...Hirotsune S	28079116	2017
18	Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons. ⁶²	Harding BN...Bielas SL	27453579	2016
19	[Neu-Laxova syndrome: Three case reports and a review of the literature]. ⁶²	Darouich S...Masmoudi A	27475004	2016
20	De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. ⁶²	Laquerriere A...Poirier K	26732629	2016
21	Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain. ⁶²	Abdel Razek AA...Castillo M	26599961	2016
22	TUBA1A Mutation Associated With Eye Abnormalities in Addition to Brain Malformation. ⁶²	Myers KA...Innes AM	26294046	2015
23	Rare ACTG1 variants in fetal microlissencephaly. ⁶²	Poirier K...Bahi-Buisson N	26188271	2015
24	A case of Norman-Roberts syndrome identified from postnatal diagnosis of microlissencephaly. ⁶²	Tosello B...Gire C	25927602	2015
25	Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype. ⁶²	Abdel-Salam GM...Gaber KR	25755095	2015
26	Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias. ⁶²	Kato M	26052266	2015
27	Katanin p80 regulates human cortical development by limiting centriole and cilia number. ⁶²	Hu WF...Walsh CA	25521379	2014
28	Severe presentation of WDR62 mutation: is there a role for modifying genetic factors? ⁶²	Poulton CJ...Mancini GM	24842779	2014
29	Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. ⁶²	Fallet-Bianco C...Bahi-Buisson N	25059107	2014
30	The wide spectrum of tubulinopathies: what are the key features for the diagnosis? ⁶²	Bahi-Buisson N...Chelly J	24860126	2014
31	Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly. ⁶²	Guven A...Tolun A	22526350	2012
32	Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations. ⁶²	Bhat V...Kumar A	21496009	2011
33	Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. ⁶²	Alkuraya FS...Walsh CA	21529751	2011
34	The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. ⁶²	Bakircioglu M...Woods CG	21529752	2011
35	Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III. ⁶²	Juric-Sekhar G...Hevner RF	20857301	2011
36	Lissencephalic syndromes: brain and beyond. ⁶²	Pavone L...Iannetti P	20036930	2010
37	[Genetic and clinical aspects of lissencephaly]. ⁶²	Verloes A...Gressens P	17571022	2007
38	Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia. ⁶²	Sztriha L...Al-Gazali LI	15794192	2005
39	Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature. ⁶²	Klinge L...Voit T	12571786	2002
40	Microlissencephaly with cardiac, spinal and urogenital defects. ⁶²	Gardner RJ...Suthers GK	11446415	2001
41	Diffuse pachygyria with cerebellar hypoplasia: a milder form of microlissencephaly or a new genetic syndrome? ⁶²	Kato M...Hayasaka K	10514106	1999
42	Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis. ⁶²	Sztriha L...Nork M	10480209	1999
43	Microlissencephaly: a heterogeneous malformation of cortical development. ⁶²	Barkovich AJ...Evrard P	9706619	1998
44	Microlissencephaly. ⁶²	Sztriha L...Varughese M	9588537	1998
45	Lissencephaly with extreme cerebral and cerebellar hypoplasia. A magnetic resonance imaging study. ⁶²	Kroon AA...Hennekam RC	8971750	1996

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Genes for Microlissencephaly

Genes related to Microlissencephaly (1 elite genes):

(show all 20)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	WDR81	WD Repeat Domain 81	Protein Coding	405.93	Pathogenic ⁵ DISEASES inferred ¹⁴
2	TUBA3E	Tubulin Alpha 3e	Protein Coding	11.48	DISEASES inferred ¹⁴ GeneCards inferred via : Summaries (show sections)
3	NDE1	NudE Neurodevelopment Protein 1	Protein Coding	8.17	DISEASES inferred ¹⁴
4	TUBA1A	Tubulin Alpha 1a	Protein Coding	8.08	DISEASES inferred ¹⁴
5	TUBB2B	Tubulin Beta 2B Class IIb	Protein Coding	7.78	DISEASES inferred ¹⁴
6	KATNB1	Katanin Regulatory Subunit B1	Protein Coding	7.77	DISEASES inferred ¹⁴
7	TUBG1	Tubulin Gamma 1	Protein Coding	7.68	DISEASES inferred ¹⁴
8	WDR62	WD Repeat Domain 62	Protein Coding	7.5	DISEASES inferred ¹⁴
9	TUBA8	Tubulin Alpha 8	Protein Coding	7.48	DISEASES inferred ¹⁴
10	NDEL1	NudE Neurodevelopment Protein 1 Like 1	Protein Coding	7.24	DISEASES inferred ¹⁴
11	CENPJ	Centromere Protein J	Protein Coding	6.82	DISEASES inferred ¹⁴
12	CDK5RAP2	CDK5 Regulatory Subunit Associated Protein 2	Protein Coding	6.58	DISEASES inferred ¹⁴
13	PAFAH1B1	Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1	Protein Coding	6.42	DISEASES inferred ¹⁴
14	TUBB2A	Tubulin Beta 2A Class IIa	Protein Coding	6.36	DISEASES inferred ¹⁴
15	ASPM	Assembly Factor For Spindle Microtubules	Protein Coding	6.34	DISEASES inferred ¹⁴
16	STIL	STIL Centriolar Assembly Protein	Protein Coding	6.25	DISEASES inferred ¹⁴
17	KIF5C	Kinesin Family Member 5C	Protein Coding	6.09	DISEASES inferred ¹⁴
18	TUBB6	Tubulin Beta 6 Class V	Protein Coding	6.07	DISEASES inferred ¹⁴
19	RELN	Reelin	Protein Coding	6.04	DISEASES inferred ¹⁴
20	CEP152	Centrosomal Protein 152	Protein Coding	6.02	DISEASES inferred ¹⁴

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Variations for Microlissencephaly

ClinVar genetic disease variations for Microlissencephaly:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	WDR81	NM_001163809.2(WDR81):c.4668_4669del (p.Gly1557fs)	DEL	Pathogenic	635849	rs771116788	GRCh37: 17:1636999-1637000 GRCh38: 17:1733705-1733706

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Expression for Microlissencephaly

Search GEO for disease gene expression data for Microlissencephaly.

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Pathways for Microlissencephaly

Pathways related to Microlissencephaly according to GeneCards Suite gene sharing:

(show all 32)

#	Super pathways	Score	Top Affiliating Genes
1	Signal Transduction ⁶⁶	13.73	WDR81 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E
2	Signaling by Rho GTPases ⁶⁶ Show member pathways RHO GTPase cycle ⁶⁶ RHO GTPase Effectors ⁶⁶ Signaling by Rho GTPases, Miro GTPases and RHOBTB3 ⁶⁶	13.64	WDR81 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E
3	Cell Cycle, Mitotic ⁶⁶ Show member pathways Cell Cycle ⁶⁶ M Phase ⁶⁶	13.36	CDK5RAP2 CENPJ CEP152 NDE1 NDEL1 PAFAH1B1
4	Vesicle-mediated transport ⁶⁶ Show member pathways Membrane Trafficking ⁶⁶	13.29	PAFAH1B1 TUBA1A TUBA3E TUBA8 TUBB2A TUBB2B
5	Response to elevated platelet cytosolic Ca2+ ⁶⁶ Show member pathways Disinhibition of SNARE formation ⁶⁶ Hemostasis ⁶⁶ Platelet activation, signaling and aggregation ⁶⁶ Platelet degranulation ⁶⁶	13.19	TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E TUBA1A
6	Transmission across Chemical Synapses ⁶⁶ Show member pathways Neuronal System ⁶⁶ Neurotransmitter receptors and postsynaptic signal transmission ⁶⁶	13.06	TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E TUBA1A
7	Loss of Nlp from mitotic centrosomes ⁶⁶ Show member pathways Anchoring of the basal body to the plasma membrane ⁶⁶ AURKA Activation by TPX2 ⁶⁶ Centrosome maturation ⁶⁶ G2/M Transition ⁶⁶ Interaction between PHLDA1 and AURKA ⁶⁶ Loss of proteins required for interphase microtubule organization from the centrosome ⁶⁶ Mitotic G2-G2/M phases ⁶⁶ Polo-like kinase mediated events ⁶⁶ Recruitment of mitotic centrosome proteins and complexes ⁶⁶ Recruitment of NuMA to mitotic centrosomes ⁶⁶ Regulation of PLK1 Activity at G2/M Transition ⁶⁶	13.06	TUBG1 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E
8	Golgi-to-ER retrograde transport ⁶⁶ Show member pathways COPI-dependent Golgi-to-ER retrograde traffic ⁶⁶ Factors involved in megakaryocyte development and platelet production ⁶⁶ Intra-Golgi and retrograde Golgi-to-ER traffic ⁶⁶ Kinesins ⁶⁶ MHC class II antigen presentation ⁶⁶	13.04	PAFAH1B1 TUBA1A TUBA3E TUBA8 TUBB2A TUBB2B
9	Transport to the Golgi and subsequent modification ⁶⁶ Show member pathways Asparagine N-linked glycosylation ⁶⁶ COPI-mediated anterograde transport ⁶⁶ ER to Golgi Anterograde Transport ⁶⁶ N-glycan trimming and elongation in the cis-Golgi ⁶⁶ Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2 ⁶⁶	12.98	TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E TUBA1A
10	Separation of Sister Chromatids ⁶⁶ Show member pathways Mitotic Anaphase ⁶⁶ Mitotic Metaphase and Anaphase ⁶⁶ Regulation of sister chromatid separation at the metaphase-anaphase transition ⁷⁴	12.85	TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E TUBA1A
11	Sertoli-Sertoli Cell Junction Dynamics ⁶⁴ Show member pathways Epithelial Tight Junctions ⁶⁴ Germ Cell-Sertoli Cell Junction Dynamics ⁶⁴	12.83	TUBG1 TUBB6 TUBB2B TUBB2A TUBA8
12	Alzheimer's disease and miRNA effects ⁷⁴ Show member pathways Alzheimer's disease ⁷⁴	12.82	TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E TUBA1A
13	EML4 and NUDC in mitotic spindle formation ⁶⁶ Show member pathways Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal ⁶⁶ Amplification of signal from the kinetochores ⁶⁶ Mitotic Prometaphase ⁶⁶ Mitotic Spindle Checkpoint ⁶⁶ Resolution of Sister Chromatid Cohesion ⁶⁶ RHO GTPases Activate Formins ⁶⁶	12.72	TUBG1 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E
14	Selective autophagy ⁶⁶ Show member pathways Aggrephagy ⁶⁶ Autophagy ⁶⁶ Lipophagy ⁶⁶ Macroautophagy ⁶⁶ Pexophagy ⁶⁶	12.7	TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E TUBA1A
15	HCMV Infection ⁶⁶ Show member pathways HCMV Early Events ⁶⁶ HCMV Late Events ⁶⁶	12.67	TUBA1A TUBA3E TUBA8 TUBB2A TUBB2B TUBB6
16	G-protein signaling G-Protein alpha-i signaling cascades ²² Show member pathways Development Beta-adrenergic receptors regulation of ERK ²² G-protein signaling G-Protein alpha-s signaling cascades ²² G-protein signaling G-Protein beta/gamma signaling cascades ²² Signaling in Gap Junctions ⁶⁴	12.55	TUBB6 TUBB2B TUBB2A TUBA8
17	Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding ⁶⁶ Show member pathways Carboxyterminal post-translational modifications of tubulin ⁶⁶ Cellular proteostasis ⁷⁴ Folding of actin by CCT/TriC ⁶⁶ Formation of tubulin folding intermediates by CCT/TriC ⁶⁶ Initiation of Nuclear Envelope (NE) Reformation ⁶⁶ Nuclear Envelope (NE) Reassembly ⁶⁶ Post-chaperonin tubulin folding pathway ⁶⁶ Prefoldin mediated transfer of substrate to CCT/TriC ⁶⁶ Sealing of the nuclear envelope (NE) by ESCRT-III ⁶⁶	12.49	TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E TUBA1A
18	Gap junction trafficking ⁶⁶ Show member pathways Cell adhesion Gap junctions ²² Entry of Influenza Virion into Host Cell via Endocytosis ⁶⁶ Formation of annular gap junctions ⁶⁶ Gap junction assembly ⁶⁶ Gap junction degradation ⁶⁶ Gap junction trafficking and regulation ⁶⁶ Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane ⁶⁶ Regulation of gap junction activity ⁶⁶ Transport of connexons to the plasma membrane ⁶⁶	12.41	TUBA1A TUBA3E TUBA8 TUBB2A TUBB2B TUBB6
19	EphB-EphrinB Signaling ⁶⁴ Show member pathways Cytoskeleton remodeling Reverse signaling by ephrin B ²² Ephrin-Eph Signaling ⁶⁴	12.38	TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E TUBA1A
20	Signaling by Hedgehog ⁶⁶ Show member pathways Hedgehog 'off' state ⁶⁶	12.36	TUBB6 TUBB2B TUBB2A TUBA1A
21	Chaperonin-mediated protein folding ⁶⁶ Show member pathways Association of TriC/CCT with target proteins during biosynthesis ⁶⁶ Protein folding ⁶⁶	12.34	TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E TUBA1A
22	Activation of NMDA receptors and postsynaptic events ⁶⁶ Show member pathways Activation of RAC1 downstream of NMDARs ⁶⁶ Assembly and cell surface presentation of NMDA receptors ⁶⁶ Post NMDA receptor activation events ⁶⁶	12.32	TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E TUBA1A
23	COPI-independent Golgi-to-ER retrograde traffic ⁶⁶ Show member pathways Cell cycle Spindle assembly and chromosome separation ²² Cytoskeleton remodeling Keratin filaments ²² Cytoskeleton remodeling Neurofilaments ²² HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand ⁶⁶	12.3	KIF5C PAFAH1B1 TUBA1A TUBA3E TUBA8 TUBB2A
24	Development Slit-Robo signaling ²² Show member pathways Neurophysiological process Receptor-mediated axon growth repulsion ²² Pathogenic Escherichia coli infection ⁷⁴	12.26	TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E TUBA1A
25	L1CAM interactions ⁶⁶ Show member pathways CHL1 interactions ⁶⁶ Neurofascin interactions ⁶⁶ NrCAM interactions ⁶⁶ Recycling pathway of L1 ⁶⁶	12.21	TUBA1A TUBA3E TUBA8 TUBB2A TUBB2B TUBB6
26	Regulation of CFTR activity (norm and CF) ²² Show member pathways Regulation of CFTR gating (normal and CF) ²² wtCFTR and deltaF508 traffic / Membrane expression (norm and CF) ²²	12.13	TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E TUBA1A
27	Organelle biogenesis and maintenance ⁶⁶ Show member pathways Cilium Assembly ⁶⁶	12.1	TUBG1 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E
28	Remodeling of Adherens Junctions ⁶⁴	12.07	TUBG1 TUBB6 TUBB2B TUBB2A TUBA8
29	Activation of AMPK downstream of NMDARs ⁶⁶ Show member pathways RHO GTPases activate IQGAPs ⁶⁶ Translocation of SLC2A4 (GLUT4) to the plasma membrane ⁶⁶	12.01	TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E TUBA1A
30	Intraflagellar transport ⁶⁶	11.61	TUBB6 TUBB2B TUBB2A TUBA1A
31	Neurogenesis regulation in the olfactory epithelium ⁷⁴	11.56	RELN PAFAH1B1 NDEL1
32	Lissencephaly gene (LIS1) in neuronal migration and development ⁶¹	11.23	RELN PAFAH1B1 NDEL1

Sources

GO Terms for Microlissencephaly

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

(show all 17)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.62	ASPM CDK5RAP2 CENPJ CEP152 KATNB1 KIF5C
2	centrosome	GO:0005813	10.3	ASPM CDK5RAP2 CENPJ CEP152 KATNB1 NDE1
3	centriole	GO:0005814	10.18	CENPJ CEP152 STIL TUBG1 WDR62
4	mitotic spindle	GO:0072686	10.14	TUBB2A TUBB2B TUBB6 WDR62
5	spindle pole	GO:0000922	10.07	WDR62 KATNB1 CDK5RAP2 ASPM
6	spindle	GO:0005819	10.07	ASPM KATNB1 NDE1 NDEL1 PAFAH1B1 TUBB6
7	kinesin complex	GO:0005871	10.06	PAFAH1B1 NDEL1 NDE1 KIF5C
8	microtubule cytoskeleton	GO:0015630	10.06	KATNB1 PAFAH1B1 TUBA1A TUBA3E TUBA8 TUBB2A
9	axon cytoplasm	GO:1904115	10.04	PAFAH1B1 NDEL1 KIF5C
10	cytoplasmic microtubule	GO:0005881	10.03	TUBG1 TUBA1A PAFAH1B1
11	cell leading edge	GO:0031252	10.02	TUBG1 PAFAH1B1 NDEL1
12	pericentriolar material	GO:0000242	9.97	TUBG1 CEP152 CDK5RAP2
13	microtubule organizing center	GO:0005815	9.97	WDR62 TUBG1 PAFAH1B1 NDEL1 NDE1 KATNB1
14	cytoskeleton	GO:0005856	9.93	ASPM CDK5RAP2 CENPJ CEP152 KATNB1 KIF5C
15	procentriole replication complex	GO:0120099	9.91	STIL CEP152 CENPJ
16	central region of growth cone	GO:0090724	9.81	PAFAH1B1 NDEL1
17	microtubule	GO:0005874	9.77	ASPM CDK5RAP2 CENPJ KATNB1 KIF5C NDE1

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

(show all 29)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell division	GO:0051301	10.25	TUBA1A PAFAH1B1 NDE1 KATNB1 CENPJ ASPM
2	mitotic cell cycle	GO:0000278	10.17	TUBG1 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E
3	neuron migration	GO:0001764	10.1	ASPM NDE1 NDEL1 PAFAH1B1 RELN TUBA1A
4	mitotic spindle organization	GO:0007052	10.09	STIL TUBG1 WDR62
5	establishment of mitotic spindle orientation	GO:0000132	10.06	CDK5RAP2 NDE1 NDEL1 PAFAH1B1
6	modulation of chemical synaptic transmission	GO:0050804	10.04	TUBB2B RELN PAFAH1B1
7	regulation of neuron differentiation	GO:0045664	10.03	WDR62 RELN CDK5RAP2
8	microtubule nucleation	GO:0007020	10.03	TUBG1 NDEL1 NDE1 CENPJ
9	centriole replication	GO:0007099	10.01	WDR62 CEP152 CENPJ CDK5RAP2
10	neuroblast proliferation	GO:0007405	9.97	PAFAH1B1 NDE1 ASPM
11	vesicle transport along microtubule	GO:0047496	9.97	PAFAH1B1 NDEL1 NDE1
12	retrograde axonal transport	GO:0008090	9.94	PAFAH1B1 NDEL1
13	regulation of centriole replication	GO:0046599	9.93	STIL CENPJ
14	interneuron migration	GO:1904936	9.93	RELN PAFAH1B1
15	cerebral cortex development	GO:0021987	9.93	WDR62 TUBB2B TUBB2A TUBA1A RELN PAFAH1B1
16	microtubule cytoskeleton organization	GO:0000226	9.93	CDK5RAP2 NDEL1 PAFAH1B1 TUBA1A TUBA3E TUBA8
17	forebrain development	GO:0030900	9.92	STIL RELN NDE1
18	reelin-mediated signaling pathway	GO:0038026	9.91	RELN PAFAH1B1
19	positive regulation of spindle assembly	GO:1905832	9.91	STIL CENPJ
20	cytoskeleton organization	GO:0007010	9.91	TUBB6 TUBB2B TUBA8 TUBA1A ASPM
21	centrosome duplication	GO:0051298	9.91	CENPJ CEP152 NDE1 STIL
22	maintenance of centrosome location	GO:0051661	9.9	PAFAH1B1 ASPM
23	mitotic centrosome separation	GO:0007100	9.89	NDEL1 NDE1
24	positive regulation of centriole replication	GO:0046601	9.88	CENPJ STIL
25	nuclear membrane disassembly	GO:0051081	9.88	NDEL1 PAFAH1B1
26	microtubule organizing center organization	GO:0031023	9.88	PAFAH1B1 NDE1 CDK5RAP2
27	radial glia-guided pyramidal neuron migration	GO:0140650	9.84	NDEL1 PAFAH1B1
28	establishment of chromosome localization	GO:0051303	9.83	NDEL1 NDE1
29	microtubule-based process	GO:0007017	9.36	TUBG1 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E

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

#	Name	GO ID	Score	Top Affiliating Genes
1	microtubule binding	GO:0008017	9.93	PAFAH1B1 NDEL1 NDE1 KIF5C KATNB1 CDK5RAP2
2	nucleotide binding	GO:0000166	9.86	TUBG1 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E
3	GTP binding	GO:0005525	9.8	TUBA1A TUBA3E TUBA8 TUBB2A TUBB2B TUBB6
4	structural constituent of cytoskeleton	GO:0005200	9.47	TUBG1 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E

Sources

Sources for Microlissencephaly

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: MCR099 MIFTS: 44	Microlissencephaly Categories: Fetal diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Microlissencephaly

Aliases & Classifications for Microlissencephaly

MalaCards integrated aliases for Microlissencephaly:

Characteristics:

Inheritance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Microlissencephaly

Related Diseases for Microlissencephaly

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

Graphical network of the top 20 diseases related to Microlissencephaly:

Symptoms & Phenotypes for Microlissencephaly

Human phenotypes related to Microlissencephaly:

MGI Mouse Phenotypes related to Microlissencephaly:

Drugs & Therapeutics for Microlissencephaly

Genetic Tests for Microlissencephaly

Genetic tests related to Microlissencephaly:

Anatomical Context for Microlissencephaly

Organs/tissues related to Microlissencephaly:

Publications for Microlissencephaly

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Genes for Microlissencephaly

Genes related to Microlissencephaly (1 elite genes):

Variations for Microlissencephaly

ClinVar genetic disease variations for Microlissencephaly:

Expression for Microlissencephaly

Pathways for Microlissencephaly

Pathways related to Microlissencephaly according to GeneCards Suite gene sharing:

GO Terms for Microlissencephaly

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

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

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

Sources for Microlissencephaly