LIS5
MCID: LSS025
MIFTS: 28

Lissencephaly 5 (LIS5)

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

Aliases & Classifications for Lissencephaly 5

MalaCards integrated aliases for Lissencephaly 5:

Name: Lissencephaly 5 57 12 72 29 13 6 70
Lis5 57 12 72
Cobblestone Lissencephaly Without Muscular or Ocular Involvement 58
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 39

Characteristics:

Orphanet epidemiological data:

58
cobblestone lissencephaly without muscular or ocular involvement
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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:

31
lissencephaly 5:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Lissencephaly 5

OMIM® : 57 Lissencephaly-5 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 (summary by Radmanesh et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). (615191) (Updated 05-Apr-2021)

MalaCards based summary : Lissencephaly 5, is also known as lis5, and has symptoms including seizures An important gene associated with Lissencephaly 5 is LAMB1 (Laminin Subunit Beta 1). Affiliated tissues include cortex, brain and eye, and related phenotypes are hydrocephalus and optic atrophy

Disease Ontology : 12 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 : 72 Lissencephaly 5: 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

Symptoms & Phenotypes for Lissencephaly 5

Human phenotypes related to Lissencephaly 5:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
2 optic atrophy 58 31 occasional (7.5%) Frequent (79-30%) HP:0000648
3 severe global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011344
4 cerebellar hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001321
5 gray matter heterotopia 58 31 frequent (33%) Frequent (79-30%) HP:0002282
6 occipital encephalocele 58 31 frequent (33%) Frequent (79-30%) HP:0002085
7 abnormality of the cerebral white matter 58 31 frequent (33%) Frequent (79-30%) HP:0002500
8 type ii lissencephaly 58 31 frequent (33%) Frequent (79-30%) HP:0007260
9 abnormal myelination 58 31 frequent (33%) Frequent (79-30%) HP:0012447
10 hypoplasia of the brainstem 58 31 frequent (33%) Frequent (79-30%) HP:0002365
11 dysgyria 58 31 frequent (33%) Frequent (79-30%) HP:0032398
12 hearing impairment 31 occasional (7.5%) HP:0000365
13 cataract 31 occasional (7.5%) HP:0000518
14 seizure 31 occasional (7.5%) HP:0001250
15 macrocephaly 31 HP:0000256
16 intellectual disability 31 HP:0001249
17 seizures 58 Occasional (29-5%)
18 emg abnormality 58 Excluded (0%)
19 spastic paraplegia 31 HP:0001258
20 leukoencephalopathy 31 HP:0002352
21 psychomotor retardation 31 HP:0025356
22 generalized hypotonia 31 HP:0001290
23 porencephalic cyst 31 HP:0002132
24 subcortical band heterotopia 31 HP:0032409

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
hydrocephalus
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 05-Apr-2021)

UMLS symptoms related to Lissencephaly 5:


seizures

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 Lissencephaly 5 29 LAMB1

Anatomical Context for Lissencephaly 5

MalaCards organs/tissues related to Lissencephaly 5:

40
Cortex, Brain, Eye

Publications for Lissencephaly 5

Articles related to Lissencephaly 5:

# Title Authors PMID Year
1
Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations. 6 57
25925986 2015
2
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. 57 6
23472759 2013
3
[Synthesis and analysis of potent cyclic analogs of the ACTH active center]. 61
6093819 1984

Variations for Lissencephaly 5

ClinVar genetic disease variations for Lissencephaly 5:

6 (show all 17)
# 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) Deletion Pathogenic 225687 rs879255266 GRCh37: 7:107594123-107594123
GRCh38: 7:107953678-107953678
5 LAMB1 NM_002291.3(LAMB1):c.1189C>T (p.Arg397Ter) SNV Pathogenic 1029431 GRCh37: 7:107616134-107616134
GRCh38: 7:107975689-107975689
6 LAMB1 NM_002291.3(LAMB1):c.3796C>T (p.Gln1266Ter) SNV Pathogenic 1032807 GRCh37: 7:107577688-107577688
GRCh38: 7:107937243-107937243
7 LAMB1 NM_002291.3(LAMB1):c.4648C>T (p.Arg1550Ter) SNV Uncertain significance 930970 GRCh37: 7:107569954-107569954
GRCh38: 7:107929509-107929509
8 LAMB1 NM_002291.3(LAMB1):c.452A>G (p.Glu151Gly) SNV Uncertain significance 931301 GRCh37: 7:107626780-107626780
GRCh38: 7:107986335-107986335
9 LAMB1 NM_002291.3(LAMB1):c.2092T>A (p.Tyr698Asn) SNV Uncertain significance 1029432 GRCh37: 7:107601668-107601668
GRCh38: 7:107961223-107961223
10 LAMB1 NM_002291.3(LAMB1):c.2402G>A (p.Arg801Lys) SNV Uncertain significance 1029433 GRCh37: 7:107600192-107600192
GRCh38: 7:107959747-107959747
11 LAMB1 NM_002291.3(LAMB1):c.4188G>C (p.Met1396Ile) SNV Uncertain significance 1029434 GRCh37: 7:107575860-107575860
GRCh38: 7:107935415-107935415
12 LAMB1 NM_002291.3(LAMB1):c.2723T>C (p.Ile908Thr) SNV Uncertain significance 709400 rs139487685 GRCh37: 7:107596043-107596043
GRCh38: 7:107955598-107955598
13 LAMB1 NM_002291.3(LAMB1):c.4562T>G (p.Ile1521Ser) SNV Uncertain significance 522776 rs199646967 GRCh37: 7:107570040-107570040
GRCh38: 7:107929595-107929595
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.4277G>C (p.Gly1426Ala) SNV Uncertain significance 973338 GRCh37: 7:107572734-107572734
GRCh38: 7:107932289-107932289
17 LAMB1 NM_002291.3(LAMB1):c.3422C>T (p.Thr1141Met) SNV Likely benign 977874 GRCh37: 7:107580773-107580773
GRCh38: 7:107940328-107940328

Expression for Lissencephaly 5

Search GEO for disease gene expression data for Lissencephaly 5.

Pathways for Lissencephaly 5

GO Terms for Lissencephaly 5

Sources for Lissencephaly 5

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