LIS10
MCID: LSS042
MIFTS: 23

Lissencephaly 10 (LIS10)

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

Aliases & Classifications for Lissencephaly 10

MalaCards integrated aliases for Lissencephaly 10:

Name: Lissencephaly 10 57 73 29 6
Lis10 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
de novo mutation (in some patients)
onset of seizures in the first decade
seizures are often intractable


HPO:

31
lissencephaly 10:
Inheritance autosomal dominant inheritance


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 05-Mar-2021)

MalaCards based summary : Lissencephaly 10, is also known as lis10. An important gene associated with Lissencephaly 10 is CEP85L (Centrosomal Protein 85 Like). Affiliated tissues include cortex, and related phenotypes are intellectual disability and eeg abnormality

UniProtKB/Swiss-Prot : 73 Lissencephaly 10: 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.

Related Diseases for Lissencephaly 10

Symptoms & Phenotypes for Lissencephaly 10

Human phenotypes related to Lissencephaly 10:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 eeg abnormality 31 very rare (1%) HP:0002353
3 depressivity 31 very rare (1%) HP:0000716
4 global developmental delay 31 very rare (1%) HP:0001263
5 bipolar affective disorder 31 very rare (1%) HP:0007302
6 hypodontia 31 very rare (1%) HP:0000668
7 pachygyria 31 very rare (1%) HP:0001302
8 torticollis 31 very rare (1%) HP:0000473
9 focal impaired awareness seizure 31 very rare (1%) HP:0002384
10 autistic behavior 31 very rare (1%) HP:0000729
11 aggressive behavior 31 very rare (1%) HP:0000718
12 auditory hallucinations 31 very rare (1%) HP:0008765
13 cerebral visual impairment 31 very rare (1%) HP:0100704
14 atonic seizure 31 very rare (1%) HP:0010819
15 mild microcephaly 31 very rare (1%) HP:0040196
16 atypical absence seizure 31 very rare (1%) HP:0007270
17 visual agnosia 31 very rare (1%) HP:0030222
18 suicidal ideation 31 very rare (1%) HP:0031589
19 agyria 31 very rare (1%) HP:0031882
20 bilateral tonic-clonic seizure with focal onset 31 very rare (1%) HP:0007334
21 febrile seizure (within the age range of 3 months to 6 years) 31 very rare (1%) HP:0002373
22 myoclonic seizure 31 very rare (1%) HP:0032794
23 tonic seizure 31 very rare (1%) HP:0032792
24 posterior predominant subcortical band heterotopia 31 very rare (1%) HP:0032411

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 05-Mar-2021)

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 29 CEP85L

Anatomical Context for Lissencephaly 10

MalaCards organs/tissues related to Lissencephaly 10:

40
Cortex

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 6
32097630 2020
2
Familial bilateral medial parietooccipital band heterotopia not related to DCX or LIS1 gene defects. 57 6
12910438 2003

Variations for Lissencephaly 10

ClinVar genetic disease variations for Lissencephaly 10:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEP85L NM_001042475.3(CEP85L):c.2T>C (p.Met1Thr) SNV Pathogenic 872889 6:118972431-118972431 6:118651268-118651268
2 CEP85L NM_001042475.3(CEP85L):c.193G>A (p.Asp65Asn) SNV Pathogenic 872890 6:118953655-118953655 6:118632492-118632492
3 CEP85L NM_001042475.3(CEP85L):c.203T>C (p.Ile68Thr) SNV Pathogenic 872891 6:118953645-118953645 6:118632482-118632482
4 CEP85L NM_001042475.3(CEP85L):c.232+3G>T SNV Pathogenic 872892 6:118953613-118953613 6:118632450-118632450
5 CEP85L NM_001042475.3(CEP85L):c.232+5G>A SNV Pathogenic 872893 6:118953611-118953611 6:118632448-118632448

Expression for Lissencephaly 10

Search GEO for disease gene expression data for Lissencephaly 10.

Pathways for Lissencephaly 10

GO Terms for Lissencephaly 10

Sources for Lissencephaly 10

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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