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 ⁷³ ²⁹ ⁶

Lis10 ⁵⁷ ⁷³

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal dominant

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

HPO:

³¹

lissencephaly 10:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 618873

OMIM Phenotypic Series ⁵⁷ PS607432

MeSH ⁴⁴ D054082

MedGen ⁴¹ C5394354 CN280891

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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 05-Mar-2021)

MalaCards based summary : Lissencephaly 10, is also known as lis10. An important gene associated with Lissencephaly 10 is CEP85L (Centrosomal Protein 85 Like). Affiliated tissues include cortex, and related phenotypes are intellectual disability and eeg abnormality

UniProtKB/Swiss-Prot : ⁷³ Lissencephaly 10: 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.

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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

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Symptoms & Phenotypes for Lissencephaly 10

Human phenotypes related to Lissencephaly 10:

³¹ (show all 24)

#	Description	HPO Frequency	HPO Source Accession
1	intellectual disability ³¹	very rare (1%)	HP:0001249
2	eeg abnormality ³¹	very rare (1%)	HP:0002353
3	depressivity ³¹	very rare (1%)	HP:0000716
4	global developmental delay ³¹	very rare (1%)	HP:0001263
5	bipolar affective disorder ³¹	very rare (1%)	HP:0007302
6	hypodontia ³¹	very rare (1%)	HP:0000668
7	pachygyria ³¹	very rare (1%)	HP:0001302
8	torticollis ³¹	very rare (1%)	HP:0000473
9	focal impaired awareness seizure ³¹	very rare (1%)	HP:0002384
10	autistic behavior ³¹	very rare (1%)	HP:0000729
11	aggressive behavior ³¹	very rare (1%)	HP:0000718
12	auditory hallucinations ³¹	very rare (1%)	HP:0008765
13	cerebral visual impairment ³¹	very rare (1%)	HP:0100704
14	atonic seizure ³¹	very rare (1%)	HP:0010819
15	mild microcephaly ³¹	very rare (1%)	HP:0040196
16	atypical absence seizure ³¹	very rare (1%)	HP:0007270
17	visual agnosia ³¹	very rare (1%)	HP:0030222
18	suicidal ideation ³¹	very rare (1%)	HP:0031589
19	agyria ³¹	very rare (1%)	HP:0031882
20	bilateral tonic-clonic seizure with focal onset ³¹	very rare (1%)	HP:0007334
21	febrile seizure (within the age range of 3 months to 6 years) ³¹	very rare (1%)	HP:0002373
22	myoclonic seizure ³¹	very rare (1%)	HP:0032794
23	tonic seizure ³¹	very rare (1%)	HP:0032792
24	posterior predominant subcortical band heterotopia ³¹	very rare (1%)	HP:0032411

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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 05-Mar-2021)

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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 ²⁹	CEP85L

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Anatomical Context for Lissencephaly 10

MalaCards organs/tissues related to Lissencephaly 10:

⁴⁰

Cortex

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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 ⁶	Tsai MH...Mefford HC	32097630	2020
2	Familial bilateral medial parietooccipital band heterotopia not related to DCX or LIS1 gene defects. ⁵⁷ ⁶	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	1007.7	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	32097630

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Variations for Lissencephaly 10

ClinVar genetic disease variations for Lissencephaly 10:

⁶

#	Gene	Name	Type	Significance	ClinVarId	GRCh37 Pos	GRCh38 Pos
1	CEP85L	NM_001042475.3(CEP85L):c.2T>C (p.Met1Thr)	SNV	Pathogenic	872889	6:118972431-118972431	6:118651268-118651268
2	CEP85L	NM_001042475.3(CEP85L):c.193G>A (p.Asp65Asn)	SNV	Pathogenic	872890	6:118953655-118953655	6:118632492-118632492
3	CEP85L	NM_001042475.3(CEP85L):c.203T>C (p.Ile68Thr)	SNV	Pathogenic	872891	6:118953645-118953645	6:118632482-118632482
4	CEP85L	NM_001042475.3(CEP85L):c.232+3G>T	SNV	Pathogenic	872892	6:118953613-118953613	6:118632450-118632450
5	CEP85L	NM_001042475.3(CEP85L):c.232+5G>A	SNV	Pathogenic	872893	6:118953611-118953611	6:118632448-118632448

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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

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GO Terms for Lissencephaly 10

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Sources for Lissencephaly 10

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

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²¹ GeneAnalytics

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

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 NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Lissencephaly 10 (LIS10)

Aliases & Classifications for Lissencephaly 10

MalaCards integrated aliases for Lissencephaly 10:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Lissencephaly 10

Related Diseases for Lissencephaly 10

Diseases in the Lissencephaly family:

Symptoms & Phenotypes for Lissencephaly 10

Human phenotypes related to Lissencephaly 10:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Lissencephaly 10

Genetic Tests for Lissencephaly 10

Genetic tests related to Lissencephaly 10:

Anatomical Context for Lissencephaly 10

MalaCards 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:

Expression for Lissencephaly 10

Pathways for Lissencephaly 10

GO Terms for Lissencephaly 10

Sources for Lissencephaly 10