LIS8
MCID: LSS035
MIFTS: 25

Lissencephaly 8 (LIS8)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

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:



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.

Related Diseases for Lissencephaly 8

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)

Drugs & Therapeutics for Lissencephaly 8

Search Clinical Trials , NIH Clinical Center for Lissencephaly 8

Genetic Tests for Lissencephaly 8

Genetic tests related to Lissencephaly 8:

# Genetic test Affiliating Genes
1 Lissencephaly 8 29 TMTC3

Anatomical Context for Lissencephaly 8

MalaCards organs/tissues related to Lissencephaly 8:

40
Cerebellum, Cortex

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
27773428 2016
2
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders. 6
28097321 2017
3
The evaluation of hospital laboratory information management systems based on the standards of the American National Standard Institute. 61
25077154 2014

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

Expression for Lissencephaly 8

Search GEO for disease gene expression data for Lissencephaly 8.

Pathways for Lissencephaly 8

GO Terms for Lissencephaly 8

Sources for Lissencephaly 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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