LIS10
MCID: LSS042
MIFTS: 18

Lissencephaly 10 (LIS10)

Categories: 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 56 6
Lis10 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 56 618873
OMIM Phenotypic Series 56 PS607432

Summaries for Lissencephaly 10

OMIM : 56 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)

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 brain.

Related Diseases for Lissencephaly 10

Symptoms & Phenotypes for Lissencephaly 10

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
developmental regression
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

Drugs & Therapeutics for Lissencephaly 10

Search Clinical Trials , NIH Clinical Center for Lissencephaly 10

Genetic Tests for Lissencephaly 10

Anatomical Context for Lissencephaly 10

MalaCards organs/tissues related to Lissencephaly 10:

40
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. 56 6
32097630 2020
2
Familial bilateral medial parietooccipital band heterotopia not related to DCX or LIS1 gene defects. 6 56
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>TSNV Pathogenic 872892 6:118953613-118953613 6:118632450-118632450
5 CEP85L NM_001042475.3(CEP85L):c.232+5G>ASNV 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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