MCID: LSS025
MIFTS: 24

Lissencephaly 5

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Muscle diseases, Cardiovascular diseases, Skin diseases

Aliases & Classifications for Lissencephaly 5

MalaCards integrated aliases for Lissencephaly 5:

Name: Lissencephaly 5 57 75 29 13 6 73
Lis5 57 75
Cobblestone Lissencephaly Without Muscular or Ocular Involvement 59
Cobblestone Lissencephaly Without Muscular or Eye Involvement 59
Lissencephaly Type 2 Without Muscular or Ocular Involvement 59
Lissencephaly Type 2 Without Muscular or Eye Involvement 59
Lissencephaly, Type 5 40

Characteristics:

Orphanet epidemiological data:

59
cobblestone lissencephaly without muscular or ocular involvement
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
lissencephaly 5:
Onset and clinical course variable expressivity progressive
Inheritance autosomal recessive inheritance


Classifications:



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)

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 brain, cortex and eye, and related phenotypes are hydrocephalus and macrocephaly

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hydrocephalus
seizures
cerebellar hypoplasia
spastic paraplegia
porencephaly
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

Human phenotypes related to Lissencephaly 5:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 32 HP:0000238
2 macrocephaly 32 HP:0000256
3 hearing impairment 32 occasional (7.5%) HP:0000365
4 cataract 32 occasional (7.5%) HP:0000518
5 optic atrophy 32 occasional (7.5%) HP:0000648
6 intellectual disability 32 HP:0001249
7 seizures 32 HP:0001250
8 spastic paraplegia 32 HP:0001258
9 generalized hypotonia 32 HP:0001290
10 cerebellar hypoplasia 32 HP:0001321
11 occipital encephalocele 32 HP:0002085
12 porencephalic cyst 32 HP:0002132
13 gray matter heterotopias 32 HP:0002281
14 leukoencephalopathy 32 HP:0002352
15 hypoplasia of the brainstem 32 HP:0002365
16 abnormality of the cerebral white matter 32 HP:0002500
17 type ii lissencephaly 32 HP:0007260
18 severe global developmental delay 32 HP:0011344

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:

41
Brain, Cortex, Eye

Publications for Lissencephaly 5

Variations for Lissencephaly 5

ClinVar genetic disease variations for Lissencephaly 5:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 LAMB1 NM_002291.2(LAMB1) indel Pathogenic rs387907343 GRCh37 Chromosome 7, 107592590: 107592603
2 LAMB1 NM_002291.2(LAMB1) indel Pathogenic rs387907343 GRCh38 Chromosome 7, 107952145: 107952158
3 LAMB1 NM_002291.2(LAMB1): c.2109+1G> T single nucleotide variant Pathogenic rs387907344 GRCh37 Chromosome 7, 107601650: 107601650
4 LAMB1 NM_002291.2(LAMB1): c.2109+1G> T single nucleotide variant Pathogenic rs387907344 GRCh38 Chromosome 7, 107961205: 107961205
5 LAMB1 NM_002291.2(LAMB1): c.2931delG (p.Gln977Hisfs) deletion Pathogenic rs879255266 GRCh38 Chromosome 7, 107953678: 107953678
6 LAMB1 NM_002291.2(LAMB1): c.2931delG (p.Gln977Hisfs) deletion Pathogenic rs879255266 GRCh37 Chromosome 7, 107594123: 107594123
7 LAMB1 NM_002291.2(LAMB1): c.1442G> T (p.Cys481Phe) single nucleotide variant Pathogenic rs879255267 GRCh38 Chromosome 7, 107975026: 107975026
8 LAMB1 NM_002291.2(LAMB1): c.1442G> T (p.Cys481Phe) single nucleotide variant Pathogenic rs879255267 GRCh37 Chromosome 7, 107615471: 107615471
9 LAMB1 NM_002291.2(LAMB1): c.4562T> G (p.Ile1521Ser) single nucleotide variant Uncertain significance rs199646967 GRCh38 Chromosome 7, 107929595: 107929595
10 LAMB1 NM_002291.2(LAMB1): c.4562T> G (p.Ile1521Ser) single nucleotide variant Uncertain significance rs199646967 GRCh37 Chromosome 7, 107570040: 107570040
11 LAMB1 NM_002291.2(LAMB1): c.4393G> A (p.Val1465Ile) single nucleotide variant Likely pathogenic GRCh38 Chromosome 7, 107931500: 107931500
12 LAMB1 NM_002291.2(LAMB1): c.4393G> A (p.Val1465Ile) single nucleotide variant Likely pathogenic GRCh37 Chromosome 7, 107571945: 107571945
13 LAMB1 NM_002291.2(LAMB1): c.2684G> A (p.Cys895Tyr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 7, 107959255: 107959255
14 LAMB1 NM_002291.2(LAMB1): c.2684G> A (p.Cys895Tyr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 7, 107599700: 107599700

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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