MCID: LSS035
MIFTS: 21

Lissencephaly 8

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

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:



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.

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 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

Drugs & Therapeutics for Lissencephaly 8

Search Clinical Trials , NIH Clinical Center for Lissencephaly 8

Genetic Tests for Lissencephaly 8

Anatomical Context for Lissencephaly 8

MalaCards organs/tissues related to Lissencephaly 8:

41
Cerebellum, Cortex, Brain

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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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