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 ⁷⁵ ⁶

Lis8 ⁵⁷ ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy

HPO:

³²

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Cardiovascular diseases Skin diseases Muscle diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 617255

MedGen ⁴² C4310646 CN239574

MeSH ⁴⁴ D054082

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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)

MalaCards based summary : Lissencephaly 8, is also known as lis8. An important gene associated with Lissencephaly 8 is TMTC3 (Transmembrane And Tetratricopeptide Repeat Containing 3). Affiliated tissues include cerebellum, cortex and brain, and related phenotypes are microcephaly and cataract

UniProtKB/Swiss-Prot : ⁷⁵ 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

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Symptoms & Phenotypes for Lissencephaly 8

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Head And Neck Head:
microcephaly (in some patients)

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

Laboratory Abnormalities:
increased serum creatine kinase (rare)

Skeletal Feet:
club feet (in some patients)

Muscle Soft Tissue:
truncal hypotonia
no muscle atrophy

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

Clinical features from OMIM:

617255

Human phenotypes related to Lissencephaly 8:

³² (show all 15)

#	Description	HPO Frequency	HPO Source Accession
1	microcephaly ³²	occasional (7.5%)	HP:0000252
2	cataract ³²	occasional (7.5%)	HP:0000518
3	optic atrophy ³²		HP:0000648
4	intellectual disability ³²		HP:0001249
5	seizures ³²		HP:0001250
6	global developmental delay ³²		HP:0001263
7	talipes equinovarus ³²	occasional (7.5%)	HP:0001762
8	hypoplasia of the corpus callosum ³²		HP:0002079
9	occipital encephalocele ³²	occasional (7.5%)	HP:0002085
10	ventriculomegaly ³²		HP:0002119
11	polymicrogyria ³²		HP:0002126
12	hypoplasia of the brainstem ³²		HP:0002365
13	elevated serum creatine phosphokinase ³²	occasional (7.5%)	HP:0003236
14	muscular hypotonia of the trunk ³²		HP:0008936
15	abnormal myelination ³²	occasional (7.5%)	HP:0012447

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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

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Anatomical Context for Lissencephaly 8

MalaCards organs/tissues related to Lissencephaly 8:

⁴¹

Cerebellum, Cortex, Brain

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Publications for Lissencephaly 8

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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	PubmedIds
1	TMTC3	Transmembrane And Tetratricopeptide Repeat Containing 3	Protein Coding	1227.45	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ GeneCards inferred via : Disorders Variants (show sections)	27773428

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Variations for Lissencephaly 8

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

⁷⁵

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

ClinVar genetic disease variations for Lissencephaly 8:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TMTC3	NM_181783.3(TMTC3): c.1462delA (p.Arg488Glufs)	deletion	Pathogenic	rs1057517696	GRCh38	Chromosome 12, 88188872: 88188872
2	TMTC3	NM_181783.3(TMTC3): c.1462delA (p.Arg488Glufs)	deletion	Pathogenic	rs1057517696	GRCh37	Chromosome 12, 88582649: 88582649
3	TMTC3	NM_181783.3(TMTC3): c.2617C> T (p.Gln873Ter)	single nucleotide variant	Pathogenic	rs1057517697	GRCh38	Chromosome 12, 88195521: 88195521
4	TMTC3	NM_181783.3(TMTC3): c.2617C> T (p.Gln873Ter)	single nucleotide variant	Pathogenic	rs1057517697	GRCh37	Chromosome 12, 88589298: 88589298
5	TMTC3	NM_181783.3(TMTC3): c.1959_1960insTT (p.Arg654Leufs)	insertion	Pathogenic	rs1057519417	GRCh37	Chromosome 12, 88588640: 88588641
6	TMTC3	NM_181783.3(TMTC3): c.1959_1960insTT (p.Arg654Leufs)	insertion	Pathogenic	rs1057519417	GRCh38	Chromosome 12, 88194863: 88194864
7	TMTC3	NM_181783.3(TMTC3): c.199C> G (p.His67Asp)	single nucleotide variant	Pathogenic	rs754200057	GRCh38	Chromosome 12, 88153300: 88153300
8	TMTC3	NM_181783.3(TMTC3): c.199C> G (p.His67Asp)	single nucleotide variant	Pathogenic	rs754200057	GRCh37	Chromosome 12, 88547077: 88547077
9	TMTC3	NM_181783.3(TMTC3): c.3G> A (p.Met1Ile)	single nucleotide variant	Pathogenic	rs1057517698	GRCh37	Chromosome 12, 88542095: 88542095
10	TMTC3	NM_181783.3(TMTC3): c.3G> A (p.Met1Ile)	single nucleotide variant	Pathogenic	rs1057517698	GRCh38	Chromosome 12, 88148318: 88148318

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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 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

⁴³ MedlinePlus

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

MCID: LSS035 MIFTS: 21	Lissencephaly 8 Categories: Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Skin diseases, Fetal diseases, Muscle diseases
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