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

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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:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

Other congenital malformations of brain

Other reduction deformities of brain

Orphanet: ⁵⁹

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

Orphanet ⁵⁹ ORPHA1083

ICD10 via Orphanet ³⁴ Q04.3

UMLS via Orphanet ⁷⁴ C1956147

UMLS ⁷³ C1956147

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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...

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Related Diseases for Microlissencephaly

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

(show all 17)

#	Related Disease	Score	Top Affiliating Genes
1	lissencephaly	31.3	KATNB1 NDE1 TUBA1A
2	microlissencephaly-micromelia syndrome	12.1
3	lissencephaly 2	11.9
4	lissencephaly 4	11.8
5	cortical dysplasia, complex, with other brain malformations 7	11.4
6	fetal akinesia deformation sequence	10.0
7	cerebellar hypoplasia	10.0
8	isolated growth hormone deficiency, type ia	10.0
9	roberts syndrome	10.0
10	dwarfism	10.0
11	pachygyria	10.0
12	tubulinopathy-associated dysgyria	9.9	TUBA1A TUBB2B
13	hydranencephaly	9.9	NDE1 TUBA1A
14	baraitser-winter syndrome	9.9	ACTG1 NDE1
15	physical disorder	9.8	NDE1 TUBA1A
16	congenital nervous system abnormality	9.7	NDE1 TUBA1A TUBB2B
17	microcephaly	9.5	CIT KATNB1 NDE1 TUBA1A

Graphical network of the top 20 diseases related to Microlissencephaly:

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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	CTSD KATNB1 TUBA1A
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 G2M DNA content, increased 8N 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	CIT CTSD KATNB1 NDE1 TUBA1A TUBB2B
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

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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 ²⁹

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Anatomical Context for Microlissencephaly

MalaCards organs/tissues related to Microlissencephaly:

⁴¹

Brain

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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 )	Laquerriere A....Poirier K.	2016
2	Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons. ( 27453579 )		2016
3	Rare ACTG1 variants in fetal microlissencephaly. ( 26188271 )	Poirier K....Bahi-Buisson N.	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 )	Klinge L...Voit T	2002
7	Microlissencephaly with cardiac, spinal and urogenital defects. ( 11446415 )	Gardner R.J....Suthers G.K.	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

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Genes for Microlissencephaly

Genes related to Microlissencephaly (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	KATNB1	Katanin Regulatory Subunit B1	Protein Coding	350	Causative germline mutation ⁵⁹
2	NDE1	NudE Neurodevelopment Protein 1	Protein Coding	350	Causative germline mutation ⁵⁹
3	TUBA3E	Tubulin Alpha 3e	Protein Coding	17.6	GeneCards inferred via : Summaries (show sections)
4	CTSD	Cathepsin D	Protein Coding	16.91	GeneCards inferred via : Variants (show sections)
5	CIT	Citron Rho-Interacting Serine/Threonine Kinase	Protein Coding	16.77	GeneCards inferred via : Publications (show sections)
6	ACTG1	Actin Gamma 1	Protein Coding	16.77	GeneCards inferred via : Publications (show sections)
7	TUBA1A	Tubulin Alpha 1a	Protein Coding	16.77	GeneCards inferred via : Publications (show sections)
8	TUBB2B	Tubulin Beta 2B Class IIb	Protein Coding	16.77	GeneCards inferred via : Publications (show sections)

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Variations for Microlissencephaly

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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 12)

#	Super pathways	Score	Top Affiliating Genes
1	Apoptosis Modulation and Signaling ¹ Show member pathways Apoptosis ¹ Apoptosis ³⁷ Apoptosis and survival Apoptotic TNF-family pathways ²² Apoptosis Signaling Pathways ⁶⁵ Death Receptor Signaling ⁶⁷	12.44	ACTG1 CTSD TUBA1A TUBA3E
2	Chaperonin-mediated protein folding ⁶⁶ Show member pathways Association of TriC/CCT with target proteins during biosynthesis ⁶⁶ Protein folding ⁶⁶	12.07	TUBA1A TUBA3E TUBB2B
3	Development Slit-Robo signaling ²² Show member pathways Cell adhesion Gap junctions ²² Neurophysiological process Receptor-mediated axon growth repulsion ²² Pathogenic Escherichia coli infection ¹ Pathogenic Escherichia coli infection ³⁷	12.05	ACTG1 TUBA1A TUBA3E TUBB2B
4	Tight junction ³⁷	11.9	ACTG1 TUBA1A TUBA3E
5	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	11.87	TUBA1A TUBA3E TUBB2B
6	EphB-EphrinB Signaling ⁶⁴ Show member pathways Cytoskeleton remodeling Reverse signaling by ephrin B ²² Ephrin-Eph Signaling ⁶⁴	11.84	ACTG1 TUBA1A TUBA3E TUBB2B
7	Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway ²² Show member pathways Parkin-Ubiquitin Proteasomal System pathway ¹	11.79	TUBA1A TUBA3E TUBB2B
8	Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding ⁶⁶ Show member pathways Folding of actin by CCT/TriC ⁶⁶ Formation of tubulin folding intermediates by CCT/TriC ⁶⁶ Post-chaperonin tubulin folding pathway ⁶⁶ Prefoldin mediated transfer of substrate to CCT/TriC ⁶⁶	11.67	TUBA1A TUBA3E TUBB2B
9	Cell cycle_Spindle assembly and chromosome separation ²²	11.52	TUBA1A TUBA3E TUBB2B
10	Gap junction ³⁷	11.44	TUBA1A TUBA3E TUBB2B
11	Phagosome ³⁷	11.44	ACTG1 TUBA1A TUBA3E TUBB2B
12	Cytoskeleton remodeling Neurofilaments ²² Show member pathways Cytoskeleton remodeling Keratin filaments ²²	10.96	ACTG1 TUBA1A TUBA3E TUBB2B

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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	9.91	ACTG1 CIT KATNB1 NDE1 TUBA1A TUBA3E
2	cytoskeleton	GO:0005856	9.63	ACTG1 KATNB1 NDE1 TUBA1A TUBA3E TUBB2B
3	Schaffer collateral - CA1 synapse	GO:0098685	9.32	ACTG1 TUBB2B
4	cleavage furrow	GO:0032154	9.26	CIT NDE1
5	microtubule cytoskeleton	GO:0015630	9.26	KATNB1 TUBA1A TUBA3E TUBB2B
6	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	nervous system development	GO:0007399	9.61	CIT NDE1 TUBB2B
2	cell division	GO:0051301	9.56	CIT KATNB1 NDE1 TUBA1A
3	G2/M transition of mitotic cell cycle	GO:0000086	9.5	CIT NDE1 TUBA1A
4	ciliary basal body-plasma membrane docking	GO:0097711	9.4	NDE1 TUBA1A
5	regulation of G2/M transition of mitotic cell cycle	GO:0010389	9.37	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	protein binding	GO:0005515	9.86	ACTG1 CIT CTSD KATNB1 NDE1 TUBA1A
2	GTP binding	GO:0005525	9.33	TUBA1A TUBA3E TUBB2B
3	GTPase activity	GO:0003924	9.13	TUBA1A TUBA3E TUBB2B
4	structural constituent of cytoskeleton	GO:0005200	8.92	ACTG1 TUBA1A TUBA3E TUBB2B

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Sources for Microlissencephaly

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

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⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

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 SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia