Lissencephaly 8 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lissencephaly 8

MalaCards integrated aliases for Lissencephaly 8:

Name: Lissencephaly 8 ⁵⁷ ¹² ⁷² ²⁹ ⁶

Lis8 ⁵⁷ ¹² ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy

HPO:

³¹

lissencephaly 8:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset

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:

Disease Ontology ¹² DOID:0112233

OMIM® ⁵⁷ 617255

OMIM Phenotypic Series ⁵⁷ PS607432

MeSH ⁴⁴ D054082

MedGen ⁴¹ C4310646 CN239574

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Summaries for Lissencephaly 8

OMIM® : ⁵⁷ Lissencephaly-8 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia. Brain imaging shows variable features, including cortical gyral abnormalities and hypoplasia of the corpus callosum, brainstem, and cerebellum (summary by Jerber et al., 2016). For a general description and a discussion of genetic heterogeneity lissencephaly, see LIS1 (607432). (617255) (Updated 05-Apr-2021)

MalaCards based summary : Lissencephaly 8, is also known as lis8. An important gene associated with Lissencephaly 8 is TMTC3 (Transmembrane O-Mannosyltransferase Targeting Cadherins 3). Affiliated tissues include cerebellum and cortex, and related phenotypes are cataract and microcephaly

Disease Ontology : ¹² A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has material basis in homozygous or compound heterozygous mutation in TMTC3 on chromosome 12q21.32.

UniProtKB/Swiss-Prot : ⁷² Lissencephaly 8: 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. LIS8 patients manifest delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, hypotonia, cortical gyral abnormalities, and hypoplasia of the corpus callosum, brainstem and cerebellum. LIS8 inheritance is autosomal recessive.

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Related Diseases for Lissencephaly 8

Diseases in the Lissencephaly family:

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

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Symptoms & Phenotypes for Lissencephaly 8

Human phenotypes related to Lissencephaly 8:

³¹ (show all 19)

#	Description	HPO Frequency	HPO Source Accession
1	cataract ³¹	occasional (7.5%)	HP:0000518
2	microcephaly ³¹	occasional (7.5%)	HP:0000252
3	elevated serum creatine kinase ³¹	occasional (7.5%)	HP:0003236
4	talipes equinovarus ³¹	occasional (7.5%)	HP:0001762
5	occipital encephalocele ³¹	occasional (7.5%)	HP:0002085
6	abnormal myelination ³¹	occasional (7.5%)	HP:0012447
7	intellectual disability ³¹		HP:0001249
8	spasticity ³¹		HP:0001257
9	global developmental delay ³¹		HP:0001263
10	optic atrophy ³¹		HP:0000648
11	absent speech ³¹		HP:0001344
12	ventriculomegaly ³¹		HP:0002119
13	polymicrogyria ³¹		HP:0002126
14	hypoplasia of the corpus callosum ³¹		HP:0002079
15	lissencephaly ³¹		HP:0001339
16	muscular hypotonia of the trunk ³¹		HP:0008936
17	hypoplasia of the brainstem ³¹		HP:0002365
18	delayed ability to walk ³¹		HP:0031936
19	seizure ³¹		HP:0001250

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Neurologic Central Nervous System:
intellectual disability
seizures
ventriculomegaly
polymicrogyria
hypoplasia of the corpus callosum
more

Head And Neck Head:
microcephaly (in some patients)

Muscle Soft Tissue:
truncal hypotonia
no muscle atrophy

Laboratory Abnormalities:
increased serum creatine kinase (rare)

Skeletal Feet:
club feet (in some patients)

Head And Neck Eyes:
cataracts (in some patients)
ophthalmologic abnormalities are rare
optic atrophy (in 1 patient)

Neurologic Behavioral Psychiatric Manifestations:
autistic features (in some patients)

Clinical features from OMIM®:

617255 (Updated 05-Apr-2021)

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Drugs & Therapeutics for Lissencephaly 8

Search Clinical Trials , NIH Clinical Center for Lissencephaly 8

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Genetic Tests for Lissencephaly 8

Genetic tests related to Lissencephaly 8:

#	Genetic test	Affiliating Genes
1	Lissencephaly 8 ²⁹	TMTC3

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Anatomical Context for Lissencephaly 8

MalaCards organs/tissues related to Lissencephaly 8:

⁴⁰

Cerebellum, Cortex

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Publications for Lissencephaly 8

Articles related to Lissencephaly 8:

#	Title	Authors	PMID	Year
1	Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. ⁶ ⁵⁷	Jerber J...Gleeson JG	27773428	2016
2	Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders. ⁶	Reuter MS...Abou Jamra R	28097321	2017
3	The evaluation of hospital laboratory information management systems based on the standards of the American National Standard Institute. ⁶¹	Isfahani SS...Mirmohamadi M	25077154	2014

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Genes for Lissencephaly 8

Genes related to Lissencephaly 8 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TMTC3	Transmembrane O-Mannosyltransferase Targeting Cadherins 3	Protein Coding	1316.72	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	27773428

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Variations for Lissencephaly 8

ClinVar genetic disease variations for Lissencephaly 8:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TMTC3	NM_181783.4(TMTC3):c.1462del (p.Arg488fs)	Deletion	Pathogenic	372273	rs1057517696	GRCh37: 12:88582648-88582648 GRCh38: 12:88188871-88188871
2	TMTC3	NM_181783.4(TMTC3):c.2617C>T (p.Gln873Ter)	SNV	Pathogenic	372274	rs1057517697	GRCh37: 12:88589298-88589298 GRCh38: 12:88195521-88195521
3	TMTC3	NM_181783.4(TMTC3):c.3G>A (p.Met1Ile)	SNV	Pathogenic	372277	rs1057517698	GRCh37: 12:88542095-88542095 GRCh38: 12:88148318-88148318
4	TMTC3	NM_181783.4(TMTC3):c.1959_1960insTT (p.Arg654fs)	Insertion	Pathogenic	372275	rs1057519417	GRCh37: 12:88588639-88588640 GRCh38: 12:88194862-88194863
5	TMTC3	NM_181783.4(TMTC3):c.740T>G (p.Leu247Ter)	SNV	Pathogenic	1033239		GRCh37: 12:88554571-88554571 GRCh38: 12:88160794-88160794
6	TMTC3	NM_181783.4(TMTC3):c.199C>G (p.His67Asp)	SNV	Pathogenic/Likely pathogenic	372276	rs754200057	GRCh37: 12:88547077-88547077 GRCh38: 12:88153300-88153300
7	TMTC3	NM_181783.4(TMTC3):c.10A>G (p.Ile4Val)	SNV	Uncertain significance	1033238		GRCh37: 12:88542102-88542102 GRCh38: 12:88148325-88148325
8	TMTC3	NM_181783.4(TMTC3):c.816T>A (p.Ala272=)	SNV	Uncertain significance	1033240		GRCh37: 12:88560125-88560125 GRCh38: 12:88166348-88166348

UniProtKB/Swiss-Prot genetic disease variations for Lissencephaly 8:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	TMTC3	p.His67Asp	VAR_077900
2	TMTC3	p.Gly384Glu	VAR_077901

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Expression for Lissencephaly 8

Search GEO for disease gene expression data for Lissencephaly 8.

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Pathways for Lissencephaly 8

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GO Terms for Lissencephaly 8

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Sources for Lissencephaly 8

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

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

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-Apr-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 Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Lissencephaly 8 (LIS8)

Aliases & Classifications for Lissencephaly 8

MalaCards integrated aliases for Lissencephaly 8:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Lissencephaly 8

Related Diseases for Lissencephaly 8

Diseases in the Lissencephaly family:

Symptoms & Phenotypes for Lissencephaly 8

Human phenotypes related to Lissencephaly 8:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Lissencephaly 8

Genetic Tests for Lissencephaly 8

Genetic tests related to Lissencephaly 8:

Anatomical Context for Lissencephaly 8

MalaCards organs/tissues related to Lissencephaly 8:

Publications for Lissencephaly 8

Articles related to Lissencephaly 8:

Genes for Lissencephaly 8

Genes related to Lissencephaly 8 (1 elite genes):

Variations for Lissencephaly 8

ClinVar genetic disease variations for Lissencephaly 8:

UniProtKB/Swiss-Prot genetic disease variations for Lissencephaly 8:

Expression for Lissencephaly 8

Pathways for Lissencephaly 8

GO Terms for Lissencephaly 8

Sources for Lissencephaly 8