LIS5
MCID: LSS025
MIFTS: 39

Lissencephaly 5 (LIS5)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Lissencephaly 5

MalaCards integrated aliases for Lissencephaly 5:

Name: Lissencephaly 5 57 11 73 14 71
Cobblestone Lissencephaly Without Muscular or Ocular Involvement 58 28 5
Lis5 57 11 73
Cobblestone Lissencephaly Without Muscular or Eye Involvement 58
Lissencephaly Type 2 Without Muscular or Ocular Involvement 58
Lissencephaly Type 2 Without Muscular or Eye Involvement 58
Lissencephaly, Type 5 38

Characteristics:


Inheritance:

Lissencephaly 5: Autosomal recessive 57
Cobblestone Lissencephaly Without Muscular or Ocular Involvement: Autosomal recessive 58

Prevelance:

Cobblestone Lissencephaly Without Muscular or Ocular Involvement: <1/1000000 (Worldwide) 58

Age Of Onset:

Cobblestone Lissencephaly Without Muscular or Ocular Involvement: Childhood,Infancy 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable severity
progressive disorder
onset in the first decade (range infancy to later childhood)
episodic neurologic deterioration with stress
six patients from 3 unrelated families have been reported (last curated april 2016)


HPO:

30
lissencephaly 5:
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Lissencephaly 5

Orphanet: 58 A rare, genetic, cobblestone lissencephaly disease characterized by the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures.

MalaCards based summary: Lissencephaly 5, also known as cobblestone lissencephaly without muscular or ocular involvement, is related to proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome and walker-warburg syndrome, and has symptoms including seizures An important gene associated with Lissencephaly 5 is LAMB1 (Laminin Subunit Beta 1), and among its related pathways/superpathways are Guidance Cues and Growth Cone Motility and Signaling by Slit. Affiliated tissues include brain, cortex and eye, and related phenotypes are hydrocephalus and optic atrophy

OMIM®: 57 Lissencephaly-5 (LIS5) is an autosomal recessive brain malformation characterized by cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia. Affected individuals have hydrocephalus, seizures, and severely delayed psychomotor development (Radmanesh et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). (615191) (Updated 08-Dec-2022)

Disease Ontology: 11 A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has material basis in homozygous or compound heterozygous mutation in LAMB1 on chromosome 7q31.1.

UniProtKB/Swiss-Prot: 73 An autosomal recessive brain malformation characterized by cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia. Affected individuals have hydrocephalus, seizures, and severely delayed psychomotor development.

Related Diseases for Lissencephaly 5

Graphical network of the top 20 diseases related to Lissencephaly 5:



Diseases related to Lissencephaly 5

Symptoms & Phenotypes for Lissencephaly 5

Human phenotypes related to Lissencephaly 5:

58 30 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 58 30 Very rare (1%) Frequent (79-30%)
HP:0000238
2 optic atrophy 58 30 Very rare (1%) Frequent (79-30%)
HP:0000648
3 severe global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0011344
4 cerebellar hypoplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001321
5 gray matter heterotopia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002282
6 occipital encephalocele 58 30 Very rare (1%) Frequent (79-30%)
HP:0002085
7 abnormal cerebral white matter morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0002500
8 type ii lissencephaly 58 30 Very rare (1%) Frequent (79-30%)
HP:0007260
9 abnormal myelination 58 30 Frequent (33%) Frequent (79-30%)
HP:0012447
10 hypoplasia of the brainstem 58 30 Very rare (1%) Frequent (79-30%)
HP:0002365
11 dysgyria 58 30 Frequent (33%) Frequent (79-30%)
HP:0032398
12 seizure 58 30 Very rare (1%) Occasional (29-5%)
HP:0001250
13 hearing impairment 30 Occasional (7.5%) HP:0000365
14 cataract 30 Occasional (7.5%) HP:0000518
15 intellectual disability 30 Very rare (1%) HP:0001249
16 hypotonia 30 Very rare (1%) HP:0001252
17 motor delay 30 Very rare (1%) HP:0001270
18 cerebellar vermis hypoplasia 30 Very rare (1%) HP:0001320
19 hypoplasia of the corpus callosum 30 Very rare (1%) HP:0002079
20 cerebellar hemisphere hypoplasia 30 Very rare (1%) HP:0100307
21 macrocephaly 30 HP:0000256
22 global developmental delay 30 HP:0001263
23 emg abnormality 58 Excluded (0%)
24 spastic paraplegia 30 HP:0001258
25 leukoencephalopathy 30 HP:0002352
26 porencephalic cyst 30 HP:0002132
27 subcortical band heterotopia 30 HP:0032409

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
hydrocephalus
hypotonia
spastic paraplegia
cerebellar hypoplasia
leukoencephalopathy
more
Head And Neck Ears:
deafness (in some patients)

Head And Neck Eyes:
optic atrophy (in some patients)
lens opacities (in some patients)

Head And Neck Head:
macrocephaly due to hydrocephalus

Clinical features from OMIM®:

615191 (Updated 08-Dec-2022)

UMLS symptoms related to Lissencephaly 5:


seizures

MGI Mouse Phenotypes related to Lissencephaly 5:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.5 CCDC88C FLVCR2 LAMB1 POMT2 SRGAP2 SRGAP2C
2 mortality/aging MP:0010768 9.17 AASDHPPT FLVCR2 LAMB1 POMT2 SRGAP2 SRGAP2C

Drugs & Therapeutics for Lissencephaly 5

Search Clinical Trials, NIH Clinical Center for Lissencephaly 5

Genetic Tests for Lissencephaly 5

Genetic tests related to Lissencephaly 5:

# Genetic test Affiliating Genes
1 Cobblestone Lissencephaly Without Muscular or Ocular Involvement 28 LAMB1

Anatomical Context for Lissencephaly 5

Organs/tissues related to Lissencephaly 5:

MalaCards : Brain, Cortex, Eye
ODiseA: Brain

Publications for Lissencephaly 5

Articles related to Lissencephaly 5:

# Title Authors PMID Year
1
Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations. 57 5
25925986 2015
2
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. 57 5
23472759 2013
3
[Synthesis and analysis of potent cyclic analogs of the ACTH active center]. 62
6093819 1984

Variations for Lissencephaly 5

ClinVar genetic disease variations for Lissencephaly 5:

5 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LAMB1 NM_002291.3(LAMB1):c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT (p.Lys1049_Gln1053delinsProValLeuValSerSerTer) INDEL Pathogenic
42014 rs387907343 GRCh37: 7:107592590-107592603
GRCh38: 7:107952145-107952158
2 LAMB1 NM_002291.3(LAMB1):c.2109+1G>T SNV Pathogenic
42015 rs387907344 GRCh37: 7:107601650-107601650
GRCh38: 7:107961205-107961205
3 LAMB1 NM_002291.3(LAMB1):c.1442G>T (p.Cys481Phe) SNV Pathogenic
225688 rs879255267 GRCh37: 7:107615471-107615471
GRCh38: 7:107975026-107975026
4 LAMB1 NM_002291.3(LAMB1):c.2931del (p.Gln977fs) DEL Pathogenic
225687 rs879255266 GRCh37: 7:107594123-107594123
GRCh38: 7:107953678-107953678
5 LAMB1 NM_002291.3(LAMB1):c.1752_1756dup (p.Ala586fs) DUP Pathogenic
1323179 GRCh37: 7:107603450-107603451
GRCh38: 7:107963005-107963006
6 LAMB1 NM_002291.3(LAMB1):c.4363_4376del (p.Leu1455fs) DEL Likely Pathogenic
1701785 GRCh37: 7:107572635-107572648
GRCh38: 7:107932190-107932203
7 LAMB1 NM_002291.3(LAMB1):c.1974_1975dup (p.Pro659fs) DUP Likely Pathogenic
1701786 GRCh37: 7:107602003-107602004
GRCh38: 7:107961558-107961559
8 LAMB1 NM_002291.3(LAMB1):c.2723T>C (p.Ile908Thr) SNV Uncertain Significance
709400 rs139487685 GRCh37: 7:107596043-107596043
GRCh38: 7:107955598-107955598
9 LAMB1 NM_002291.3(LAMB1):c.4562T>G (p.Ile1521Ser) SNV Uncertain Significance
522776 rs199646967 GRCh37: 7:107570040-107570040
GRCh38: 7:107929595-107929595
10 LAMB1 NM_002291.3(LAMB1):c.1694G>A (p.Gly565Glu) SNV Uncertain Significance
1683589 GRCh37: 7:107605001-107605001
GRCh38: 7:107964556-107964556
11 LAMB1 NM_002291.3(LAMB1):c.2092T>A (p.Tyr698Asn) SNV Uncertain Significance
1029432 rs1307088615 GRCh37: 7:107601668-107601668
GRCh38: 7:107961223-107961223
12 LAMB1 NM_002291.3(LAMB1):c.2402G>A (p.Arg801Lys) SNV Uncertain Significance
1029433 rs755654690 GRCh37: 7:107600192-107600192
GRCh38: 7:107959747-107959747
13 LAMB1 NM_002291.3(LAMB1):c.4188G>C (p.Met1396Ile) SNV Uncertain Significance
1029434 rs754305761 GRCh37: 7:107575860-107575860
GRCh38: 7:107935415-107935415
14 LAMB1 NM_002291.3(LAMB1):c.4183G>A (p.Glu1395Lys) SNV Uncertain Significance
561153 rs146045042 GRCh37: 7:107575865-107575865
GRCh38: 7:107935420-107935420
15 LAMB1 NM_002291.3(LAMB1):c.5347A>G (p.Ser1783Gly) SNV Uncertain Significance
561154 rs374245297 GRCh37: 7:107564410-107564410
GRCh38: 7:107923965-107923965
16 LAMB1 NM_002291.3(LAMB1):c.4648C>T (p.Arg1550Ter) SNV Uncertain Significance
930970 rs1292231609 GRCh37: 7:107569954-107569954
GRCh38: 7:107929509-107929509
17 LAMB1 NM_002291.3(LAMB1):c.452A>G (p.Glu151Gly) SNV Uncertain Significance
931301 rs745500256 GRCh37: 7:107626780-107626780
GRCh38: 7:107986335-107986335
18 LAMB1 NM_002291.3(LAMB1):c.4277G>C (p.Gly1426Ala) SNV Uncertain Significance
973338 rs200107269 GRCh37: 7:107572734-107572734
GRCh38: 7:107932289-107932289
19 LAMB1 NM_002291.3(LAMB1):c.3422C>T (p.Thr1141Met) SNV Likely Benign
977874 GRCh37: 7:107580773-107580773
GRCh38: 7:107940328-107940328
20 DLD, LAMB1 NM_002291.3(LAMB1):c.5225-7C>T SNV Benign
369575 rs3213673 GRCh37: 7:107564539-107564539
GRCh38: 7:107924094-107924094

Expression for Lissencephaly 5

Search GEO for disease gene expression data for Lissencephaly 5.

Pathways for Lissencephaly 5

Pathways related to Lissencephaly 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.22 SRGAP3 SRGAP2
2 10.64 SRGAP3 SRGAP2
3 9.53 SRGAP3 SRGAP2

GO Terms for Lissencephaly 5

Biological processes related to Lissencephaly 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell migration GO:0030336 9.73 SRGAP3 SRGAP2C SRGAP2
2 substrate adhesion-dependent cell spreading GO:0034446 9.62 SRGAP2 LAMB1
3 inhibitory synapse assembly GO:1904862 9.46 SRGAP2C SRGAP2
4 excitatory synapse assembly GO:1904861 9.26 SRGAP2C SRGAP2
5 extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration GO:0021816 8.92 SRGAP2C SRGAP2

Sources for Lissencephaly 5

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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