Lissencephaly 10 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lissencephaly 10

MalaCards integrated aliases for Lissencephaly 10:

Name: Lissencephaly 10 ⁵⁷ ¹¹ ⁷³ ²⁸ ⁵ ¹⁴ ³⁸

Lis10 ⁵⁷ ¹¹ ⁷³

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
variable severity
de novo mutation (in some patients)
onset of seizures in the first decade
seizures are often intractable

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Muscle diseases Mental diseases

See all MalaCards categories (disease lists)

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Summaries for Lissencephaly 10

OMIM®: ⁵⁷ Lissencephaly-10 (LIS10) is a neurologic disorder characterized by variably delayed development with mildly to moderately impaired intellectual development and language delay, as well as seizures, which are often intractable. There is a spectrum of severity, with some patients having normal early development and only borderline to mild cognitive impairment. Brain imaging shows features consistent with neuronal migration defects, including posterior-predominant lissencephaly, pachygyria, agyria, and subcortical band heterotopia (summary by Tsai et al., 2020). For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). (618873) (Updated 08-Dec-2022)

MalaCards based summary: Lissencephaly 10, also known as lis10, is related to lissencephaly, x-linked, 1 and chromosome 17p13.3, centromeric, duplication syndrome. An important gene associated with Lissencephaly 10 is CEP85L (Centrosomal Protein 85 Like), and among its related pathways/superpathways are Cytoskeletal Signaling and Neurogenesis regulation in the olfactory epithelium. Affiliated tissues include cortex and brain, and related phenotypes are intellectual disability and eeg abnormality

UniProtKB/Swiss-Prot: ⁷³ A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS10 is an autosomal dominant form clinically characterized by variably delayed development, mildly to moderately impaired intellectual development, language delay, and seizures. Some patients have normal early development and borderline to mild cognitive impairment.

Disease Ontology: ¹¹ A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that has material basis in heterozygous mutation in CEP85L on chromosome 6q22.31.

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Related Diseases for Lissencephaly 10

Diseases in the Lissencephaly family:

Lissencephaly 2	Lissencephaly 1
Lissencephaly 3	Lissencephaly 4
Lissencephaly 5	Lissencephaly 8
Lissencephaly 10	Lissencephaly 6

Diseases related to Lissencephaly 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)

#	Related Disease	Score	Top Affiliating Genes
1	lissencephaly, x-linked, 1	9.9	PAFAH1B1 DCX
2	chromosome 17p13.3, centromeric, duplication syndrome	9.9	PAFAH1B1 DCX
3	hypomelanosis of ito	9.8	TUBA1A PAFAH1B1
4	lissencephaly 3	9.8	TUBA1A PAFAH1B1
5	neuronal migration disorders	9.7	TUBA1A RELN
6	polymicrogyria, bilateral frontoparietal	9.6	TUBA1A RELN
7	cerebellar hypoplasia	9.6	RELN PAFAH1B1 DCX
8	pontocerebellar hypoplasia	9.5	TUBA1A RELN
9	polymicrogyria, bilateral perisylvian, x-linked	9.5	TUBA1A RELN DCX
10	microlissencephaly	9.5	TUBA1A RELN PAFAH1B1
11	tubulinopathy	9.5	TUBA1A RELN PAFAH1B1
12	lissencephaly 2	9.5	TUBA1A RELN PAFAH1B1
13	lissencephaly, x-linked, 2	9.4	TUBA1A RELN PAFAH1B1
14	walker-warburg syndrome	9.4	TUBA1A RELN
15	lissencephaly 1	9.3	TUBA1A RELN PAFAH1B1 DCX
16	miller-dieker lissencephaly syndrome	9.2	TUBA1A RELN PAFAH1B1 DCX
17	periventricular nodular heterotopia	9.2	TUBA1A RELN PAFAH1B1 DCX
18	congenital nervous system abnormality	9.2	TUBA1A RELN PAFAH1B1 DCX
19	lissencephaly	9.0	TUBA1A RELN PAFAH1B1 DCX CEP85L
20	band heterotopia	9.0	TUBA1A RELN PAFAH1B1 DCX CEP85L
21	lissencephaly 7 with cerebellar hypoplasia	9.0	TUBA1A RELN PAFAH1B1 ITK DCX

Graphical network of the top 20 diseases related to Lissencephaly 10:

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Symptoms & Phenotypes for Lissencephaly 10

Human phenotypes related to Lissencephaly 10:

³⁰ (show all 24)

#	Description	HPO Frequency	HPO Source Accession
1	intellectual disability ³⁰	Very rare (1%)	HP:0001249
2	eeg abnormality ³⁰	Very rare (1%)	HP:0002353
3	depression ³⁰	Very rare (1%)	HP:0000716
4	global developmental delay ³⁰	Very rare (1%)	HP:0001263
5	bipolar affective disorder ³⁰	Very rare (1%)	HP:0007302
6	hypodontia ³⁰	Very rare (1%)	HP:0000668
7	pachygyria ³⁰	Very rare (1%)	HP:0001302
8	autistic behavior ³⁰	Very rare (1%)	HP:0000729
9	aggressive behavior ³⁰	Very rare (1%)	HP:0000718
10	auditory hallucinations ³⁰	Very rare (1%)	HP:0008765
11	cerebral visual impairment ³⁰	Very rare (1%)	HP:0100704
12	torticollis ³⁰	Very rare (1%)	HP:0000473
13	focal impaired awareness seizure ³⁰	Very rare (1%)	HP:0002384
14	suicidal ideation ³⁰	Very rare (1%)	HP:0031589
15	atonic seizure ³⁰	Very rare (1%)	HP:0010819
16	mild microcephaly ³⁰	Very rare (1%)	HP:0040196
17	atypical absence seizure ³⁰	Very rare (1%)	HP:0007270
18	visual agnosia ³⁰	Very rare (1%)	HP:0030222
19	myoclonic seizure ³⁰	Very rare (1%)	HP:0032794
20	agyria ³⁰	Very rare (1%)	HP:0031882
21	bilateral tonic-clonic seizure with focal onset ³⁰	Very rare (1%)	HP:0007334
22	febrile seizure (within the age range of 3 months to 6 years) ³⁰	Very rare (1%)	HP:0002373
23	tonic seizure ³⁰	Very rare (1%)	HP:0032792
24	posterior predominant subcortical band heterotopia ³⁰	Very rare (1%)	HP:0032411

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Neurologic Central Nervous System:
developmental regression
global developmental delay
pachygyria
agyria
myoclonic seizures
more

Neurologic Behavioral Psychiatric Manifestations:
depression (family a)
bipolar disorder (family a)
hallucinations (family a)
aggressive behavior (family a)
suicidal attempts (family a)

Head And Neck Eyes:
myopia (in some patients)
cortical visual impairment (in some patients)
visual difficulties (in some patients)

Clinical features from OMIM®:

618873 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Lissencephaly 10:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	9.43	CEP85L DCX ITK PAFAH1B1 RELN TUBA1A
2	behavior/neurological	MP:0005386	9.1	CEP85L DCX ITK PAFAH1B1 RELN TUBA1A

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Drugs & Therapeutics for Lissencephaly 10

Search Clinical Trials, NIH Clinical Center for Lissencephaly 10

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Genetic Tests for Lissencephaly 10

Genetic tests related to Lissencephaly 10:

#	Genetic test	Affiliating Genes
1	Lissencephaly 10 ²⁸	CEP85L

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Anatomical Context for Lissencephaly 10

Organs/tissues related to Lissencephaly 10:

MalaCards : Cortex, Brain

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Publications for Lissencephaly 10

Articles related to Lissencephaly 10:

#	Title	Authors	PMID	Year
1	Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. ⁵⁷ ⁵	Tsai MH...Mefford HC	32097630	2020
2	Familial bilateral medial parietooccipital band heterotopia not related to DCX or LIS1 gene defects. ⁵⁷ ⁵	Deconinck N...Sebire G	12910438	2003

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Genes for Lissencephaly 10

Genes related to Lissencephaly 10 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CEP85L	Centrosomal Protein 85 Like	Protein Coding	1307.34	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ GeneCards inferred via : Disorders (show sections)	12910438 32097630
2	DCX	Doublecortin	Protein Coding	6.18	DISEASES inferred ¹⁴
3	PAFAH1B1	Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1	Protein Coding	5.32	DISEASES inferred ¹⁴
4	TUBA1A	Tubulin Alpha 1a	Protein Coding	5.1	DISEASES inferred ¹⁴
5	RELN	Reelin	Protein Coding	4.82	DISEASES inferred ¹⁴
6	ITK	IL2 Inducible T Cell Kinase	Protein Coding	4.3	DISEASES inferred ¹⁴

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Variations for Lissencephaly 10

ClinVar genetic disease variations for Lissencephaly 10:

⁵ (show all 14)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CEP85L	NM_001042475.3(CEP85L):c.2T>C (p.Met1Thr)	SNV	Pathogenic	872889	rs1775537467	GRCh37: 6:118972431-118972431 GRCh38: 6:118651268-118651268
2	CEP85L	NM_001042475.3(CEP85L):c.193G>A (p.Asp65Asn)	SNV	Pathogenic	872890	rs1774229245	GRCh37: 6:118953655-118953655 GRCh38: 6:118632492-118632492
3	CEP85L	NM_001042475.3(CEP85L):c.203T>C (p.Ile68Thr)	SNV	Pathogenic	872891	rs1774228957	GRCh37: 6:118953645-118953645 GRCh38: 6:118632482-118632482
4	CEP85L	NM_001042475.3(CEP85L):c.232+3G>T	SNV	Pathogenic	872892	rs754052089	GRCh37: 6:118953613-118953613 GRCh38: 6:118632450-118632450
5	CEP85L	NM_001042475.3(CEP85L):c.232+5G>A	SNV	Pathogenic	872893	rs1774226763	GRCh37: 6:118953611-118953611 GRCh38: 6:118632448-118632448
6	CEP85L	NM_001042475.3(CEP85L):c.182C>T (p.Ser61Phe)	SNV	Uncertain Significance	438602	rs1554234607	GRCh37: 6:118953666-118953666 GRCh38: 6:118632503-118632503
7	CEP85L	NM_001042475.3(CEP85L):c.442A>G (p.Lys148Glu)	SNV	Uncertain Significance	1328549		GRCh37: 6:118887270-118887270 GRCh38: 6:118566107-118566107
8	CEP85L	NM_001042475.3(CEP85L):c.452G>A (p.Arg151Gln)	SNV	Uncertain Significance	1709317		GRCh37: 6:118887260-118887260 GRCh38: 6:118566097-118566097
9	CEP85L	NM_001178035.2(CEP85L):c.7T>G (p.Trp3Gly)	SNV	Uncertain Significance	1325611		GRCh37: 6:118973938-118973938 GRCh38: 6:118652775-118652775
10	CEP85L	NM_001042475.3(CEP85L):c.1020+17468G>A	SNV	Likely Benign	1330390	rs185846037	GRCh37: 6:118869224-118869224 GRCh38: 6:118548061-118548061
11	PLN, CEP85L	NM_001042475.3(CEP85L):c.1020+17269T>G	SNV	Benign	403328	rs77186188	GRCh37: 6:118869423-118869423 GRCh38: 6:118548260-118548260
12	CEP85L	NM_001042475.3(CEP85L):c.751C>A (p.Pro251Thr)	SNV	Benign	1209726		GRCh37: 6:118886961-118886961 GRCh38: 6:118565798-118565798
13	CEP85L	NM_001042475.3(CEP85L):c.409A>G (p.Ser137Gly)	SNV	Benign	1209727		GRCh37: 6:118887303-118887303 GRCh38: 6:118566140-118566140
14	CEP85L	NM_001042475.3(CEP85L):c.-9T>C	SNV	Benign	1209728		GRCh37: 6:118972441-118972441 GRCh38: 6:118651278-118651278

UniProtKB/Swiss-Prot genetic disease variations for Lissencephaly 10:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	CEP85L	p.Ser58Cys	VAR_084269
2	CEP85L	p.Asp65Asn	VAR_084270

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Expression for Lissencephaly 10

Search GEO for disease gene expression data for Lissencephaly 10.

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Pathways for Lissencephaly 10

Pathways related to Lissencephaly 10 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Cytoskeletal Signaling ³	11.82	TUBA1A PAFAH1B1 DCX
2	Neurogenesis regulation in the olfactory epithelium ⁷⁴	11.01	RELN PAFAH1B1
3	Reelin signaling pathway ⁶¹	10.4	RELN PAFAH1B1
4	Lissencephaly gene (LIS1) in neuronal migration and development ⁶¹	10.25	RELN PAFAH1B1 DCX

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GO Terms for Lissencephaly 10

Cellular components related to Lissencephaly 10 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	neuron projection	GO:0043005	9.8	RELN PAFAH1B1 DCX
2	cytoskeleton	GO:0005856	9.65	TUBA1A PAFAH1B1 DCX CEP85L
3	cytoplasmic microtubule	GO:0005881	9.46	TUBA1A PAFAH1B1
4	microtubule	GO:0005874	9.35	TUBA1A PAFAH1B1 DCX
5	microtubule associated complex	GO:0005875	8.92	PAFAH1B1 DCX

Biological processes related to Lissencephaly 10 according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	brain development	GO:0007420	9.78	RELN PAFAH1B1 DCX
2	microtubule-based process	GO:0007017	9.76	TUBA1A PAFAH1B1
3	positive regulation of dendritic spine morphogenesis	GO:0061003	9.73	RELN PAFAH1B1
4	modulation of chemical synaptic transmission	GO:0050804	9.69	RELN PAFAH1B1
5	adult locomotory behavior	GO:0008344	9.67	TUBA1A PAFAH1B1
6	interneuron migration	GO:1904936	9.67	RELN PAFAH1B1
7	reelin-mediated signaling pathway	GO:0038026	9.62	PAFAH1B1 RELN
8	glial cell differentiation	GO:0010001	9.58	TUBA1A RELN
9	cerebral cortex development	GO:0021987	9.56	TUBA1A RELN PAFAH1B1
10	hippocampus development	GO:0021766	9.55	RELN PAFAH1B1 DCX
11	layer formation in cerebral cortex	GO:0021819	9.35	RELN PAFAH1B1 DCX
12	neuron migration	GO:0001764	9.28	TUBA1A RELN PAFAH1B1 DCX CEP85L

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Sources for Lissencephaly 10

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

LIS10 MCID: LSS042 MIFTS: 39	Lissencephaly 10 (LIS10) Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Lissencephaly 10 (LIS10)

Aliases & Classifications for Lissencephaly 10

MalaCards integrated aliases for Lissencephaly 10:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Lissencephaly 10

Related Diseases for Lissencephaly 10

Diseases in the Lissencephaly family:

Diseases related to Lissencephaly 10 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Lissencephaly 10:

Symptoms & Phenotypes for Lissencephaly 10

Human phenotypes related to Lissencephaly 10:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Lissencephaly 10:

Drugs & Therapeutics for Lissencephaly 10

Genetic Tests for Lissencephaly 10

Genetic tests related to Lissencephaly 10:

Anatomical Context for Lissencephaly 10

Organs/tissues related to Lissencephaly 10:

Publications for Lissencephaly 10

Articles related to Lissencephaly 10:

Genes for Lissencephaly 10

Genes related to Lissencephaly 10 (1 elite genes):

Variations for Lissencephaly 10

ClinVar genetic disease variations for Lissencephaly 10:

UniProtKB/Swiss-Prot genetic disease variations for Lissencephaly 10:

Expression for Lissencephaly 10

Pathways for Lissencephaly 10

Pathways related to Lissencephaly 10 according to GeneCards Suite gene sharing:

GO Terms for Lissencephaly 10

Cellular components related to Lissencephaly 10 according to GeneCards Suite gene sharing:

Biological processes related to Lissencephaly 10 according to GeneCards Suite gene sharing:

Sources for Lissencephaly 10