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LIS4
MCID: LSS010
MIFTS: 38

Lissencephaly 4 (LIS4)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Lissencephaly 4

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MalaCards integrated aliases for Lissencephaly 4:

Name: Lissencephaly 4 57 73 29 29 13 6 71
Lissencephaly 4 with Microcephaly 57 73
Microlissencephaly 73 71
Lis4 57 73
Lissencephaly, Type 4 39

Characteristics:

OMIM®:

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

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


HPO:

31
lissencephaly 4:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Mental diseases Eye diseases Respiratory diseases Muscle diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM® 57 614019
OMIM Phenotypic Series 57 PS607432
MeSH 44 D054082
MedGen 41 C3151461
UMLS 71 C1956147 C3151461
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Summaries for Lissencephaly 4

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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) (Updated 05-Mar-2021)

MalaCards based summary : Lissencephaly 4, also known as lissencephaly 4 with microcephaly, is related to microlissencephaly and lissencephaly 2. An important gene associated with Lissencephaly 4 is NDE1 (NudE Neurodevelopment Protein 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Mitotic Metaphase and Anaphase. Affiliated tissues include cortex, brain and cerebellum, and related phenotypes are seizure and short stature

UniProtKB/Swiss-Prot : 73 Lissencephaly 4: A neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound mental retardation.

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Related Diseases for Lissencephaly 4

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Diseases in the Lissencephaly family:

Lissencephaly 2 Lissencephaly 1
Lissencephaly 3 Lissencephaly 4
Lissencephaly 5 Lissencephaly 8
Lissencephaly 10

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

(show all 48)
# Related Disease Score Top Affiliating Genes
1 microlissencephaly 11.6
2 lissencephaly 2 11.2
3 lissencephaly 11.1
4 cortical dysplasia, complex, with other brain malformations 7 11.0
5 microlissencephaly-micromelia syndrome 10.9
6 microcephaly 10.3
7 cerebellar hypoplasia 10.1
8 pachygyria 10.1
9 corpus callosum, agenesis of 10.0
10 alacrima, achalasia, and mental retardation syndrome 10.0
11 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.0
12 polymicrogyria 10.0
13 tubulinopathies 10.0
14 hypertelorism 9.8
15 fetal akinesia deformation sequence 1 9.8
16 microcephalic osteodysplastic primordial dwarfism, type i 9.8
17 isolated growth hormone deficiency, type ia 9.8
18 roberts-sc phocomelia syndrome 9.8
19 microhydranencephaly 9.8
20 lissencephaly 1 9.8
21 tukel syndrome 9.8
22 lissencephaly 3 9.8
23 cortical dysplasia, complex, with other brain malformations 1 9.8
24 pontocerebellar hypoplasia, type 1b 9.8
25 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.8
26 microcephaly 17, primary, autosomal recessive 9.8
27 cortical dysplasia, complex, with other brain malformations 10 9.8
28 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 9.8
29 distal arthrogryposis 9.8
30 baraitser-winter syndrome 9.8
31 pontocerebellar hypoplasia 9.8
32 primary autosomal recessive microcephaly 9.8
33 primary microcephaly 9.8
34 spinal muscular atrophy 9.8
35 hydranencephaly 9.8
36 muscular atrophy 9.8
37 baraitser-winter cerebrofrontofacial syndrome 9.8
38 exosc3 pontocerebellar hypoplasia 9.8
39 dwarfism 9.8
40 penis agenesis 9.8
41 hypotonia 9.8
42 spasticity 9.8
43 cerebellar malformation 9.8
44 congenital amyoplasia 9.8
45 rhombencephalosynapsis 9.8
46 aortic aneurysm, familial thoracic 6 9.6 NDE1 MYH11
47 familial thoracic aortic aneurysm and aortic dissection 9.5 NDE1 MYH11
48 connective tissue disease 9.4 NDE1 MYH11

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



Diseases related to Lissencephaly 4
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Symptoms & Phenotypes for Lissencephaly 4

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Human phenotypes related to Lissencephaly 4:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 seizure 31 frequent (33%) HP:0001250
2 short stature 31 occasional (7.5%) HP:0004322
3 hypertonia 31 occasional (7.5%) HP:0001276
4 agenesis of corpus callosum 31 HP:0001274
5 global developmental delay 31 HP:0001263
6 microcephaly 31 HP:0000252
7 cerebellar hypoplasia 31 HP:0001321
8 lissencephaly 31 HP:0001339
9 intellectual disability, profound 31 HP:0002187
10 simplified gyral pattern 31 HP:0009879

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Lissencephaly 4

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Search Clinical Trials , NIH Clinical Center for Lissencephaly 4

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Genetic Tests for Lissencephaly 4

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Genetic tests related to Lissencephaly 4:

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

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MalaCards organs/tissues related to Lissencephaly 4:

40
Cortex, Brain, Cerebellum
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Publications for Lissencephaly 4

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Articles related to Lissencephaly 4:

# Title Authors PMID Year
1
The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. 57 6
21529752 2011
2
Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. 6 57
21529751 2011
3
Mitotic spindle regulation by Nde1 controls cerebral cortical size. 57
15473967 2004
4
The first quaternary diamond-like semiconductor with 10-membered LiS4 rings exhibiting excellent nonlinear optical performances. 61
28144643 2017
5
Actualities in hydrocephalus classification and management possibilities. 61
10672591 2000
6
Classification of hydrocephalus and outcome of treatment. 61
8579221 1995
7
Lissencephaly gene (LIS1) expression in the CNS suggests a role in neuronal migration. 61
7751941 1995
8
[Neuronal migration disorders: clinical-radiological correlation]. 61
8548642 1995
9
Biological rhythms in patients with lissencephaly (agyria-pachygyria). 61
8214346 1993
10
[Neuronal migration anomalies. The magnetic resonance aspects of some types]. 61
1475414 1992
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Variations for Lissencephaly 4

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ClinVar genetic disease variations for Lissencephaly 4:

6 (show top 50) (show all 139)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NDE1 NM_017668.3(NDE1):c.680_681AC[2] (p.Pro229fs) Microsatellite Pathogenic 30787 rs756206942 16:15785157-15785158 16:15691300-15691301
2 NDE1 NDE1, IVS2DS, G-T, +1 SNV Pathogenic 30788
3 NDE1 NM_017668.3(NDE1):c.733dup (p.Leu245fs) Duplication Pathogenic 30789 rs749768828 16:15788045-15788046 16:15694188-15694189
4 NDE1 NM_017668.3(NDE1):c.658C>T (p.Arg220Ter) SNV Pathogenic 159015 rs576928842 16:15785135-15785135 16:15691278-15691278
5 NDE1 GRCh37/hg19 16p13.11(chr16:15758011-15761384) copy number loss Pathogenic 625823 16:15758011-15761384
6 NDE1 NM_017668.3(NDE1):c.83+1G>T SNV Pathogenic 435939 rs1456594953 16:15758719-15758719 16:15664862-15664862
7 NDE1 NM_017668.3(NDE1):c.872C>T (p.Ser291Phe) SNV Conflicting interpretations of pathogenicity 159020 rs146284370 16:15790642-15790642 16:15696785-15696785
8 MYH11 NM_002474.3(MYH11):c.4327G>A (p.Val1443Met) SNV Uncertain significance 159022 rs141262029 16:15818056-15818056 16:15724199-15724199
9 NDE1 NM_017668.3(NDE1):c.823C>T (p.Arg275Trp) SNV Uncertain significance 318066 rs769264617 16:15790593-15790593 16:15696736-15696736
10 NDE1 NM_017668.3(NDE1):c.700C>T (p.Arg234Cys) SNV Uncertain significance 318063 rs201783071 16:15785177-15785177 16:15691320-15691320
11 NDE1 NM_017668.3(NDE1):c.12C>T (p.Ser4=) SNV Uncertain significance 318045 rs572790932 16:15758647-15758647 16:15664790-15664790
12 NDE1 NM_017668.3(NDE1):c.623C>T (p.Ala208Val) SNV Uncertain significance 159014 rs587783867 16:15785100-15785100 16:15691243-15691243
13 NDE1 NM_017668.3(NDE1):c.744G>A (p.Ala248=) SNV Uncertain significance 159018 rs1123418 16:15788062-15788062 16:15694205-15694205
14 NDE1 NM_017668.3(NDE1):c.84-5T>C SNV Uncertain significance 159019 rs587783872 16:15761138-15761138 16:15667281-15667281
15 NDE1 NM_001143979.2(NDE1):c.-398A>C SNV Uncertain significance 318028 rs886051716 16:15737552-15737552 16:15643695-15643695
16 NDE1 NM_017668.3(NDE1):c.921C>A (p.Ser307Arg) SNV Uncertain significance 318068 rs368310178 16:15790691-15790691 16:15696834-15696834
17 MYH11 NM_017668.3(NDE1):c.*559G>T SNV Uncertain significance 318125 rs886051747 16:15818667-15818667 16:15724810-15724810
18 NDE1 NM_017668.3(NDE1):c.632C>T (p.Ser211Phe) SNV Uncertain significance 318061 rs886051724 16:15785109-15785109 16:15691252-15691252
19 NDE1 NM_017668.3(NDE1):c.35A>G (p.Glu12Gly) SNV Uncertain significance 318046 rs886051722 16:15758670-15758670 16:15664813-15664813
20 NDE1 NM_017668.3(NDE1):c.309C>G (p.Thr103=) SNV Uncertain significance 318059 rs376548563 16:15771729-15771729 16:15677872-15677872
21 MYH11 NM_017668.3(NDE1):c.*1388C>T SNV Uncertain significance 318144 rs886051753 16:15819496-15819496 16:15725639-15725639
22 NDE1 NM_017668.3(NDE1):c.832G>C (p.Val278Leu) SNV Uncertain significance 318067 rs199730431 16:15790602-15790602 16:15696745-15696745
23 NDE1 NM_017668.3(NDE1):c.95C>T (p.Thr32Met) SNV Uncertain significance 318052 rs147283674 16:15761154-15761154 16:15667297-15667297
24 NDE1 NM_001143979.2(NDE1):c.-512T>G SNV Uncertain significance 318026 rs886051714 16:15737438-15737438 16:15643581-15643581
25 NDE1 NM_017668.3(NDE1):c.720C>T (p.Thr240=) SNV Uncertain significance 318064 rs150492774 16:15788038-15788038 16:15694181-15694181
26 MYH11 NM_002474.3(MYH11):c.4031A>T (p.Glu1344Val) SNV Uncertain significance 318124 rs886051746 16:15818589-15818589 16:15724732-15724732
27 NDE1 NM_017668.3(NDE1):c.155C>T (p.Thr52Met) SNV Uncertain significance 211577 rs148118152 16:15761214-15761214 16:15667357-15667357
28 NDE1 NM_017668.3(NDE1):c.302C>T (p.Ala101Val) SNV Uncertain significance 287331 rs201587506 16:15771722-15771722 16:15677865-15677865
29 NDE1 NM_017668.3(NDE1):c.701G>A (p.Arg234His) SNV Uncertain significance 435935 rs138255766 16:15785178-15785178 16:15691321-15691321
30 NDE1 NM_017668.3(NDE1):c.872C>T (p.Ser291Phe) SNV Uncertain significance 159020 rs146284370 16:15790642-15790642 16:15696785-15696785
31 NDE1 NM_017668.3(NDE1):c.524-6G>A SNV Uncertain significance 884704 16:15784995-15784995 16:15691138-15691138
32 MYH11 NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu) SNV Uncertain significance 201039 rs148621523 16:15809106-15809106 16:15715249-15715249
33 MYH11 NM_002474.3(MYH11):c.5010G>C (p.Glu1670Asp) SNV Uncertain significance 884912 16:15813514-15813514 16:15719657-15719657
34 NDE1 NM_017668.3(NDE1):c.145G>T (p.Glu49Ter) SNV Uncertain significance 631746 rs1567627484 16:15761204-15761204 16:15667347-15667347
35 NDE1 NM_017668.3(NDE1):c.214C>T (p.Arg72Cys) SNV Uncertain significance 800855 rs777008106 16:15761273-15761273 16:15667416-15667416
36 MIR484 NC_000016.10:g.15643299C>T SNV Uncertain significance 884574 16:15737156-15737156 16:15643299-15643299
37 MIR484 NC_000016.10:g.15643328C>T SNV Uncertain significance 884575 16:15737185-15737185 16:15643328-15643328
38 NDE1 NM_017668.3(NDE1):c.291G>A (p.Glu97=) SNV Uncertain significance 884703 16:15771711-15771711 16:15677854-15677854
39 NDE1 NM_017668.3(NDE1):c.302C>T (p.Ala101Val) SNV Uncertain significance 287331 rs201587506 16:15771722-15771722 16:15677865-15677865
40 NDE1 NM_001143979.2(NDE1):c.-695C>T SNV Uncertain significance 318018 rs551758626 16:15737255-15737255 16:15643398-15643398
41 NDE1 NM_017668.3(NDE1):c.386+9G>A SNV Uncertain significance 288031 rs147174812 16:15771815-15771815 16:15677958-15677958
42 NDE1 NM_001143979.2(NDE1):c.-479C>T SNV Uncertain significance 318027 rs886051715 16:15737471-15737471 16:15643614-15643614
43 NDE1 NM_017668.3(NDE1):c.745G>T (p.Ala249Ser) SNV Uncertain significance 318065 rs147233260 16:15788063-15788063 16:15694206-15694206
44 NDE1 NM_017668.3(NDE1):c.690G>A (p.Gly230=) SNV Uncertain significance 318062 rs886051725 16:15785167-15785167 16:15691310-15691310
45 NDE1 NM_017668.3(NDE1):c.-35C>T SNV Uncertain significance 318044 rs886051721 16:15758601-15758601 16:15664744-15664744
46 NDE1 NM_001143979.2(NDE1):c.-340T>A SNV Uncertain significance 318030 rs752993685 16:15737610-15737610 16:15643753-15643753
47 MYH11 NM_017668.3(NDE1):c.*193G>A SNV Uncertain significance 318114 rs745426392 16:15818301-15818301 16:15724444-15724444
48 MYH11 NM_017668.3(NDE1):c.*896A>C SNV Uncertain significance 318130 rs113151354 16:15819004-15819004 16:15725147-15725147
49 NDE1 NM_001143979.2(NDE1):c.-186G>T SNV Uncertain significance 318033 rs886051718 16:15737764-15737764 16:15643907-15643907
50 NDE1 NM_001143979.1(NDE1):c.-812C>T SNV Uncertain significance 318015 rs886051710 16:15737138-15737138 16:15643281-15643281
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Expression for Lissencephaly 4

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Search GEO for disease gene expression data for Lissencephaly 4.
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Pathways for Lissencephaly 4

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

# Super pathways Score Top Affiliating Genes
1
Organelle biogenesis and maintenance 65
Show member pathways
 11.98 NDE1 MIR484
2
Mitotic Metaphase and Anaphase 65
Show member pathways
 11.88 NDE1 MIR484
3
Signaling by Rho GTPases 65
Show member pathways
 11.66 NDE1 MYH11 MIR484
4
Mitotic Prometaphase 65
Show member pathways
 11.49 NDE1 MIR484
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GO Terms for Lissencephaly 4

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Sources for Lissencephaly 4

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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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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