LIS10
MCID: LSS042
MIFTS: 39

Lissencephaly 10 (LIS10)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Lissencephaly 10

MalaCards integrated aliases for Lissencephaly 10:

Name: Lissencephaly 10 57 11 73 28 5 14 38
Lis10 57 11 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable severity
de novo mutation (in some patients)
onset of seizures in the first decade
seizures are often intractable


Classifications:



Summaries for Lissencephaly 10

OMIM®: 57 Lissencephaly-10 (LIS10) is a neurologic disorder characterized by variably delayed development with mildly to moderately impaired intellectual development and language delay, as well as seizures, which are often intractable. There is a spectrum of severity, with some patients having normal early development and only borderline to mild cognitive impairment. Brain imaging shows features consistent with neuronal migration defects, including posterior-predominant lissencephaly, pachygyria, agyria, and subcortical band heterotopia (summary by Tsai et al., 2020). For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). (618873) (Updated 08-Dec-2022)

MalaCards based summary: Lissencephaly 10, also known as lis10, is related to lissencephaly, x-linked, 1 and chromosome 17p13.3, centromeric, duplication syndrome. An important gene associated with Lissencephaly 10 is CEP85L (Centrosomal Protein 85 Like), and among its related pathways/superpathways are Cytoskeletal Signaling and Neurogenesis regulation in the olfactory epithelium. Affiliated tissues include cortex and brain, and related phenotypes are intellectual disability and eeg abnormality

UniProtKB/Swiss-Prot: 73 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. LIS10 is an autosomal dominant form clinically characterized by variably delayed development, mildly to moderately impaired intellectual development, language delay, and seizures. Some patients have normal early development and borderline to mild cognitive impairment.

Disease Ontology: 11 A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that has material basis in heterozygous mutation in CEP85L on chromosome 6q22.31.

Related Diseases for Lissencephaly 10

Graphical network of the top 20 diseases related to Lissencephaly 10:



Diseases related to Lissencephaly 10

Symptoms & Phenotypes for Lissencephaly 10

Human phenotypes related to Lissencephaly 10:

30 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 30 Very rare (1%) HP:0001249
2 eeg abnormality 30 Very rare (1%) HP:0002353
3 depression 30 Very rare (1%) HP:0000716
4 global developmental delay 30 Very rare (1%) HP:0001263
5 bipolar affective disorder 30 Very rare (1%) HP:0007302
6 hypodontia 30 Very rare (1%) HP:0000668
7 pachygyria 30 Very rare (1%) HP:0001302
8 autistic behavior 30 Very rare (1%) HP:0000729
9 aggressive behavior 30 Very rare (1%) HP:0000718
10 auditory hallucinations 30 Very rare (1%) HP:0008765
11 cerebral visual impairment 30 Very rare (1%) HP:0100704
12 torticollis 30 Very rare (1%) HP:0000473
13 focal impaired awareness seizure 30 Very rare (1%) HP:0002384
14 suicidal ideation 30 Very rare (1%) HP:0031589
15 atonic seizure 30 Very rare (1%) HP:0010819
16 mild microcephaly 30 Very rare (1%) HP:0040196
17 atypical absence seizure 30 Very rare (1%) HP:0007270
18 visual agnosia 30 Very rare (1%) HP:0030222
19 myoclonic seizure 30 Very rare (1%) HP:0032794
20 agyria 30 Very rare (1%) HP:0031882
21 bilateral tonic-clonic seizure with focal onset 30 Very rare (1%) HP:0007334
22 febrile seizure (within the age range of 3 months to 6 years) 30 Very rare (1%) HP:0002373
23 tonic seizure 30 Very rare (1%) HP:0032792
24 posterior predominant subcortical band heterotopia 30 Very rare (1%) HP:0032411

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
developmental regression
global developmental delay
pachygyria
agyria
myoclonic seizures
more
Neurologic Behavioral Psychiatric Manifestations:
depression (family a)
bipolar disorder (family a)
hallucinations (family a)
aggressive behavior (family a)
suicidal attempts (family a)

Head And Neck Eyes:
myopia (in some patients)
cortical visual impairment (in some patients)
visual difficulties (in some patients)

Clinical features from OMIM®:

618873 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Lissencephaly 10:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.43 CEP85L DCX ITK PAFAH1B1 RELN TUBA1A
2 behavior/neurological MP:0005386 9.1 CEP85L DCX ITK PAFAH1B1 RELN TUBA1A

Drugs & Therapeutics for Lissencephaly 10

Search Clinical Trials, NIH Clinical Center for Lissencephaly 10

Genetic Tests for Lissencephaly 10

Genetic tests related to Lissencephaly 10:

# Genetic test Affiliating Genes
1 Lissencephaly 10 28 CEP85L

Anatomical Context for Lissencephaly 10

Organs/tissues related to Lissencephaly 10:

MalaCards : Cortex, Brain

Publications for Lissencephaly 10

Articles related to Lissencephaly 10:

# Title Authors PMID Year
1
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. 57 5
32097630 2020
2
Familial bilateral medial parietooccipital band heterotopia not related to DCX or LIS1 gene defects. 57 5
12910438 2003

Variations for Lissencephaly 10

ClinVar genetic disease variations for Lissencephaly 10:

5 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CEP85L NM_001042475.3(CEP85L):c.2T>C (p.Met1Thr) SNV Pathogenic
872889 rs1775537467 GRCh37: 6:118972431-118972431
GRCh38: 6:118651268-118651268
2 CEP85L NM_001042475.3(CEP85L):c.193G>A (p.Asp65Asn) SNV Pathogenic
872890 rs1774229245 GRCh37: 6:118953655-118953655
GRCh38: 6:118632492-118632492
3 CEP85L NM_001042475.3(CEP85L):c.203T>C (p.Ile68Thr) SNV Pathogenic
872891 rs1774228957 GRCh37: 6:118953645-118953645
GRCh38: 6:118632482-118632482
4 CEP85L NM_001042475.3(CEP85L):c.232+3G>T SNV Pathogenic
872892 rs754052089 GRCh37: 6:118953613-118953613
GRCh38: 6:118632450-118632450
5 CEP85L NM_001042475.3(CEP85L):c.232+5G>A SNV Pathogenic
872893 rs1774226763 GRCh37: 6:118953611-118953611
GRCh38: 6:118632448-118632448
6 CEP85L NM_001042475.3(CEP85L):c.182C>T (p.Ser61Phe) SNV Uncertain Significance
438602 rs1554234607 GRCh37: 6:118953666-118953666
GRCh38: 6:118632503-118632503
7 CEP85L NM_001042475.3(CEP85L):c.442A>G (p.Lys148Glu) SNV Uncertain Significance
1328549 GRCh37: 6:118887270-118887270
GRCh38: 6:118566107-118566107
8 CEP85L NM_001042475.3(CEP85L):c.452G>A (p.Arg151Gln) SNV Uncertain Significance
1709317 GRCh37: 6:118887260-118887260
GRCh38: 6:118566097-118566097
9 CEP85L NM_001178035.2(CEP85L):c.7T>G (p.Trp3Gly) SNV Uncertain Significance
1325611 GRCh37: 6:118973938-118973938
GRCh38: 6:118652775-118652775
10 CEP85L NM_001042475.3(CEP85L):c.1020+17468G>A SNV Likely Benign
1330390 rs185846037 GRCh37: 6:118869224-118869224
GRCh38: 6:118548061-118548061
11 PLN, CEP85L NM_001042475.3(CEP85L):c.1020+17269T>G SNV Benign
403328 rs77186188 GRCh37: 6:118869423-118869423
GRCh38: 6:118548260-118548260
12 CEP85L NM_001042475.3(CEP85L):c.751C>A (p.Pro251Thr) SNV Benign
1209726 GRCh37: 6:118886961-118886961
GRCh38: 6:118565798-118565798
13 CEP85L NM_001042475.3(CEP85L):c.409A>G (p.Ser137Gly) SNV Benign
1209727 GRCh37: 6:118887303-118887303
GRCh38: 6:118566140-118566140
14 CEP85L NM_001042475.3(CEP85L):c.-9T>C SNV Benign
1209728 GRCh37: 6:118972441-118972441
GRCh38: 6:118651278-118651278

UniProtKB/Swiss-Prot genetic disease variations for Lissencephaly 10:

73
# Symbol AA change Variation ID SNP ID
1 CEP85L p.Ser58Cys VAR_084269
2 CEP85L p.Asp65Asn VAR_084270

Expression for Lissencephaly 10

Search GEO for disease gene expression data for Lissencephaly 10.

Pathways for Lissencephaly 10

Pathways related to Lissencephaly 10 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.82 TUBA1A PAFAH1B1 DCX
2 11.01 RELN PAFAH1B1
3 10.4 RELN PAFAH1B1
4 10.25 RELN PAFAH1B1 DCX

GO Terms for Lissencephaly 10

Cellular components related to Lissencephaly 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.8 RELN PAFAH1B1 DCX
2 cytoskeleton GO:0005856 9.65 TUBA1A PAFAH1B1 DCX CEP85L
3 cytoplasmic microtubule GO:0005881 9.46 TUBA1A PAFAH1B1
4 microtubule GO:0005874 9.35 TUBA1A PAFAH1B1 DCX
5 microtubule associated complex GO:0005875 8.92 PAFAH1B1 DCX

Biological processes related to Lissencephaly 10 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.78 RELN PAFAH1B1 DCX
2 microtubule-based process GO:0007017 9.76 TUBA1A PAFAH1B1
3 positive regulation of dendritic spine morphogenesis GO:0061003 9.73 RELN PAFAH1B1
4 modulation of chemical synaptic transmission GO:0050804 9.69 RELN PAFAH1B1
5 adult locomotory behavior GO:0008344 9.67 TUBA1A PAFAH1B1
6 interneuron migration GO:1904936 9.67 RELN PAFAH1B1
7 reelin-mediated signaling pathway GO:0038026 9.62 PAFAH1B1 RELN
8 glial cell differentiation GO:0010001 9.58 TUBA1A RELN
9 cerebral cortex development GO:0021987 9.56 TUBA1A RELN PAFAH1B1
10 hippocampus development GO:0021766 9.55 RELN PAFAH1B1 DCX
11 layer formation in cerebral cortex GO:0021819 9.35 RELN PAFAH1B1 DCX
12 neuron migration GO:0001764 9.28 TUBA1A RELN PAFAH1B1 DCX CEP85L

Sources for Lissencephaly 10

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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