LIS4
MCID: LSS010
MIFTS: 33

Lissencephaly 4 (LIS4)

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

Aliases & Classifications for Lissencephaly 4

MalaCards integrated aliases for Lissencephaly 4:

Name: Lissencephaly 4 57 74 29 29 13 6 72
Lissencephaly 4 with Microcephaly 57 74
Microlissencephaly 74 72
Lis4 57 74
Lissencephaly, Type 4 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
lack of psychomotor development
four families have been reported (last curated june 2011)


HPO:

32
lissencephaly 4:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

MeSH 44 D054082
MedGen 42 C3151461
UMLS 72 C1956147 C3151461

Summaries for Lissencephaly 4

OMIM : 57 Lissencephaly-4 is an autosomal recessive neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly (head circumference of more than 10 standard deviations (SD) below the mean), and profound mental retardation. It has also been referred to as 'microlissencephaly' (summary by Bakircioglu et al., 2011 and Alkuraya et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). (614019)

MalaCards based summary : Lissencephaly 4, also known as lissencephaly 4 with microcephaly, is related to microlissencephaly and microlissencephaly-micromelia syndrome. An important gene associated with Lissencephaly 4 is NDE1 (NudE Neurodevelopment Protein 1), and among its related pathways/superpathways is Signaling by Rho GTPases. Affiliated tissues include brain, cortex and cerebellum, and related phenotypes are seizures and short stature

UniProtKB/Swiss-Prot : 74 Lissencephaly 4: A neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound mental retardation.

Related Diseases for Lissencephaly 4

Diseases in the Lissencephaly family:

Lissencephaly 2 Lissencephaly 1
Lissencephaly 3 Lissencephaly 4
Lissencephaly 5 Lissencephaly 8

Diseases related to Lissencephaly 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 microlissencephaly 12.7
2 microlissencephaly-micromelia syndrome 12.2
3 obsolete: microlissencephaly type b 12.2
4 lissencephaly 2 12.0
5 lissencephaly 11.7
6 cortical dysplasia, complex, with other brain malformations 7 11.6
7 microcephaly 10.4
8 pachygyria 10.3
9 cerebellar hypoplasia 10.2
10 corpus callosum, agenesis of 10.2
11 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.2
12 polymicrogyria 10.2
13 tubulinopathies 10.2
14 hypertelorism 10.0
15 fetal akinesia deformation sequence 1 10.0
16 microcephalic osteodysplastic primordial dwarfism, type i 10.0
17 hydrocephalus, congenital, 1 10.0
18 isolated growth hormone deficiency, type ia 10.0
19 pseudovaginal perineoscrotal hypospadias 10.0
20 roberts syndrome 10.0
21 ataxia and polyneuropathy, adult-onset 10.0
22 microhydranencephaly 10.0
23 tukel syndrome 10.0
24 lissencephaly 3 10.0
25 cortical dysplasia, complex, with other brain malformations 1 10.0
26 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.0
27 microcephaly 17, primary, autosomal recessive 10.0
28 alkuraya-kucinskas syndrome 10.0
29 distal arthrogryposis 10.0
30 baraitser-winter syndrome 10.0
31 primary autosomal recessive microcephaly 10.0
32 primary microcephaly 10.0
33 hydranencephaly 10.0
34 baraitser-winter cerebrofrontofacial syndrome 10.0
35 dwarfism 10.0
36 hypotonia 10.0
37 cerebral malformation 10.0
38 congenital amyoplasia 10.0
39 aortic aneurysm, familial thoracic 4 9.4 NDE1 MYH11
40 aortic aneurysm, familial thoracic 6 9.2 NDE1 MYH11

Graphical network of the top 20 diseases related to Lissencephaly 4:



Diseases related to Lissencephaly 4

Symptoms & Phenotypes for Lissencephaly 4

Human phenotypes related to Lissencephaly 4:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 seizures 32 frequent (33%) HP:0001250
2 short stature 32 occasional (7.5%) HP:0004322
3 hypertonia 32 occasional (7.5%) HP:0001276
4 agenesis of corpus callosum 32 HP:0001274
5 global developmental delay 32 HP:0001263
6 microcephaly 32 HP:0000252
7 cerebellar hypoplasia 32 HP:0001321
8 intellectual disability, profound 32 HP:0002187
9 lissencephaly 32 HP:0001339
10 simplified gyral pattern 32 HP:0009879

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
lissencephaly
simplified gyral pattern
agenesis of the corpus callosum
seizures (in some patients)
mental retardation, profound
more
Growth Other:
poor growth

Growth Height:
short stature (in some patients)

Head And Neck Head:
microcephaly, profound (at least 10 sd below mean)

Clinical features from OMIM:

614019

Drugs & Therapeutics for Lissencephaly 4

Search Clinical Trials , NIH Clinical Center for Lissencephaly 4

Genetic Tests for Lissencephaly 4

Genetic tests related to Lissencephaly 4:

# Genetic test Affiliating Genes
1 Lissencephaly 4 29 NDE1
2 Lissencephaly 4 (with Microcephaly) 29

Anatomical Context for Lissencephaly 4

MalaCards organs/tissues related to Lissencephaly 4:

41
Brain, Cortex, Cerebellum

Publications for Lissencephaly 4

Articles related to Lissencephaly 4:

# Title Authors PMID Year
1
Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. 8 71
21529751 2011
2
The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. 8 71
21529752 2011
3
Mitotic spindle regulation by Nde1 controls cerebral cortical size. 8
15473967 2004
4
The first quaternary diamond-like semiconductor with 10-membered LiS4 rings exhibiting excellent nonlinear optical performances. 38
28144643 2017
5
Actualities in hydrocephalus classification and management possibilities. 38
10672591 2000
6
Classification of hydrocephalus and outcome of treatment. 38
8579221 1995
7
Lissencephaly gene (LIS1) expression in the CNS suggests a role in neuronal migration. 38
7751941 1995
8
[Neuronal migration disorders: clinical-radiological correlation]. 38
8548642 1995
9
Biological rhythms in patients with lissencephaly (agyria-pachygyria). 38
8214346 1993
10
[Neuronal migration anomalies. The magnetic resonance aspects of some types]. 38
1475414 1992

Variations for Lissencephaly 4

ClinVar genetic disease variations for Lissencephaly 4:

6 (show all 15)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NDE1 NM_001143979.2(NDE1): c.680_681AC[2] (p.Pro229fs) short repeat Pathogenic 16:15785161-15785162 16:15691304-15691305
2 NDE1 NDE1, IVS2DS, G-T, +1 single nucleotide variant Pathogenic
3 NDE1 NM_001143979.2(NDE1): c.733dup (p.Leu245fs) duplication Pathogenic 16:15788051-15788051 16:15694194-15694194
4 NDE1 NM_001143979.2(NDE1): c.658C> T (p.Arg220Ter) single nucleotide variant Pathogenic rs576928842 16:15785135-15785135 16:15691278-15691278
5 NDE1 NM_001143979.2(NDE1): c.83+1G> T single nucleotide variant Pathogenic rs1456594953 16:15758719-15758719 16:15664862-15664862
6 NDE1 GRCh37/hg19 16p13.11(chr16: 15758011-15761384) copy number loss Pathogenic 16:15758011-15761384 :0-0
7 NDE1 NM_001143979.2(NDE1): c.744G> A (p.Ala248=) single nucleotide variant Conflicting interpretations of pathogenicity rs1123418 16:15788062-15788062 16:15694205-15694205
8 NDE1 NM_001143979.2(NDE1): c.872C> T (p.Ser291Phe) single nucleotide variant Uncertain significance rs146284370 16:15790642-15790642 16:15696785-15696785
9 MYH11 ; NDE1 NM_002474.3(MYH11): c.4327G> A (p.Val1443Met) single nucleotide variant Uncertain significance rs141262029 16:15818056-15818056 16:15724199-15724199
10 NDE1 NM_001143979.2(NDE1): c.155C> T (p.Thr52Met) single nucleotide variant Uncertain significance rs148118152 16:15761214-15761214 16:15667357-15667357
11 NDE1 NM_001143979.2(NDE1): c.302C> T (p.Ala101Val) single nucleotide variant Uncertain significance rs201587506 16:15771722-15771722 16:15677865-15677865
12 NDE1 NM_001143979.2(NDE1): c.84-5T> C single nucleotide variant Uncertain significance rs587783872 16:15761138-15761138 16:15667281-15667281
13 NDE1 NM_001143979.2(NDE1): c.623C> T (p.Ala208Val) single nucleotide variant Uncertain significance rs587783867 16:15785100-15785100 16:15691243-15691243
14 NDE1 NM_001143979.2(NDE1): c.145G> T (p.Glu49Ter) single nucleotide variant Uncertain significance 16:15761204-15761204 16:15667347-15667347
15 NDE1 NM_001143979.2(NDE1): c.701G> A (p.Arg234His) single nucleotide variant Uncertain significance rs138255766 16:15785178-15785178 16:15691321-15691321

Expression for Lissencephaly 4

Search GEO for disease gene expression data for Lissencephaly 4.

Pathways for Lissencephaly 4

Pathways related to Lissencephaly 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.48 NDE1 MYH11

GO Terms for Lissencephaly 4

Sources for Lissencephaly 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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