LIS8
MCID: LSS035
MIFTS: 23

Lissencephaly 8 (LIS8)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Lissencephaly 8

MalaCards integrated aliases for Lissencephaly 8:

Name: Lissencephaly 8 57 75 29 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:



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, brain and cortex, and related phenotypes are intellectual disability and seizures

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.

Related Diseases for Lissencephaly 8

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 19)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 spasticity 32 HP:0001257
4 cataract 32 occasional (7.5%) HP:0000518
5 global developmental delay 32 HP:0001263
6 microcephaly 32 occasional (7.5%) HP:0000252
7 optic atrophy 32 HP:0000648
8 elevated serum creatine phosphokinase 32 occasional (7.5%) HP:0003236
9 absent speech 32 HP:0001344
10 ventriculomegaly 32 HP:0002119
11 talipes equinovarus 32 occasional (7.5%) HP:0001762
12 polymicrogyria 32 HP:0002126
13 lissencephaly 32 HP:0001339
14 hypoplasia of the corpus callosum 32 HP:0002079
15 abnormal myelination 32 occasional (7.5%) HP:0012447
16 occipital encephalocele 32 occasional (7.5%) HP:0002085
17 muscular hypotonia of the trunk 32 HP:0008936
18 hypoplasia of the brainstem 32 HP:0002365
19 delayed ability to walk 32 HP:0031936

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:

41
Cerebellum, Brain, Cortex, Skin

Publications for Lissencephaly 8

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

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 ExPASy
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31 HMDB
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69 SNOMED-CT via HPO
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71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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