LIS4
MCID: LSS010
MIFTS: 38

Lissencephaly 4 (LIS4)

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

Aliases & Classifications for Lissencephaly 4

MalaCards integrated aliases for Lissencephaly 4:

Name: Lissencephaly 4 56 73 29 29 13 6 71
Lissencephaly 4 with Microcephaly 56 73
Microlissencephaly 73 71
Lis4 56 73
Lissencephaly, Type 4 39

Characteristics:

OMIM:

56
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:



External Ids:

OMIM 56 614019
OMIM Phenotypic Series 56 PS607432
MeSH 43 D054082
MedGen 41 C3151461
UMLS 71 C1956147 C3151461

Summaries for Lissencephaly 4

OMIM : 56 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 are Organelle biogenesis and maintenance and Mitotic Metaphase and Anaphase. Affiliated tissues include brain, cortex 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.

Related Diseases for Lissencephaly 4

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 50)
# Related Disease Score Top Affiliating Genes
1 microlissencephaly 12.7
2 microlissencephaly-micromelia syndrome 12.2
3 lissencephaly 2 12.0
4 lissencephaly 11.7
5 cortical dysplasia, complex, with other brain malformations 7 11.6
6 microcephaly 10.5
7 cerebellar hypoplasia 10.3
8 pachygyria 10.3
9 corpus callosum, agenesis of 10.2
10 alacrima, achalasia, and mental retardation syndrome 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 roberts syndrome 10.0
20 ataxia and polyneuropathy, adult-onset 10.0
21 microhydranencephaly 10.0
22 tukel syndrome 10.0
23 lissencephaly 3 10.0
24 cortical dysplasia, complex, with other brain malformations 1 10.0
25 pontocerebellar hypoplasia, type 1b 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 cortical dysplasia, complex, with other brain malformations 10 10.0
30 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 10.0
31 distal arthrogryposis 10.0
32 baraitser-winter syndrome 10.0
33 pontocerebellar hypoplasia 10.0
34 primary autosomal recessive microcephaly 10.0
35 primary microcephaly 10.0
36 spinal muscular atrophy 10.0
37 hydranencephaly 10.0
38 muscular atrophy 10.0
39 baraitser-winter cerebrofrontofacial syndrome 10.0
40 dwarfism 10.0
41 hypotonia 10.0
42 spasticity 10.0
43 cerebellar malformation 10.0
44 congenital amyoplasia 10.0
45 rhombencephalosynapsis 10.0
46 aortic aneurysm, familial thoracic 4 9.5 NDE1 MYH11
47 aortic aneurysm, familial thoracic 6 9.4 NDE1 MYH11
48 aortic dissection 9.4 NDE1 MYH11
49 familial thoracic aortic aneurysm and aortic dissection 9.3 NDE1 MYH11
50 connective tissue disease 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:

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 global developmental delay 31 HP:0001263
5 microcephaly 31 HP:0000252
6 agenesis of corpus callosum 31 HP:0001274
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:

56
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:

40
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]. 6 56
21529751 2011
2
The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. 6 56
21529752 2011
3
Mitotic spindle regulation by Nde1 controls cerebral cortical size. 56
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

Variations for Lissencephaly 4

ClinVar genetic disease variations for Lissencephaly 4:

6 (show top 50) (show all 134) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NDE1 GRCh37/hg19 16p13.11(chr16:15758011-15761384)copy number loss Pathogenic 625823 16:15758011-15761384
2 NDE1 NM_017668.3(NDE1):c.680_681AC[2] (p.Pro229fs)short repeat Pathogenic 30787 rs756206942 16:15785157-15785158 16:15691300-15691301
3 NDE1 NDE1, IVS2DS, G-T, +1SNV Pathogenic 30788
4 NDE1 NM_017668.3(NDE1):c.733dup (p.Leu245fs)duplication Pathogenic 30789 rs749768828 16:15788045-15788046 16:15694188-15694189
5 NDE1 NM_017668.3(NDE1):c.83+1G>TSNV Pathogenic 435939 rs1456594953 16:15758719-15758719 16:15664862-15664862
6 NDE1 NM_017668.3(NDE1):c.658C>T (p.Arg220Ter)SNV Pathogenic 159015 rs576928842 16:15785135-15785135 16:15691278-15691278
7 NDE1 NM_017668.3(NDE1):c.744G>A (p.Ala248=)SNV Conflicting interpretations of pathogenicity 159018 rs1123418 16:15788062-15788062 16:15694205-15694205
8 NDE1 NM_017668.3(NDE1):c.872C>T (p.Ser291Phe)SNV Conflicting interpretations of pathogenicity 159020 rs146284370 16:15790642-15790642 16:15696785-15696785
9 MYH11 , NDE1 NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu)SNV Conflicting interpretations of pathogenicity 201039 rs148621523 16:15809106-15809106 16:15715249-15715249
10 MYH11 , NDE1 NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr)SNV Conflicting interpretations of pathogenicity 201073 rs112467954 16:15818143-15818143 16:15724286-15724286
11 MYH11 , NDE1 NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile)SNV Conflicting interpretations of pathogenicity 201031 rs141159831 16:15818759-15818759 16:15724902-15724902
12 MYH11 , NDE1 NM_002474.3(MYH11):c.3928G>A (p.Val1310Met)SNV Conflicting interpretations of pathogenicity 201068 rs7196804 16:15818780-15818780 16:15724923-15724923
13 MYH11 , NDE1 NM_002474.3(MYH11):c.3897C>T (p.Ala1299=)SNV Conflicting interpretations of pathogenicity 257258 rs190546350 16:15818811-15818811 16:15724954-15724954
14 NDE1 NM_017668.3(NDE1):c.386+9G>ASNV Conflicting interpretations of pathogenicity 288031 rs147174812 16:15771815-15771815 16:15677958-15677958
15 MYH11 , NDE1 NM_002474.3(MYH11):c.3859-158G>TSNV Conflicting interpretations of pathogenicity 318135 rs79015533 16:15819007-15819007 16:15725150-15725150
16 NDE1 NM_017668.3(NDE1):c.700C>T (p.Arg234Cys)SNV Conflicting interpretations of pathogenicity 318063 rs201783071 16:15785177-15785177 16:15691320-15691320
17 MYH11 , NDE1 NM_002474.3(MYH11):c.4117-80G>CSNV Conflicting interpretations of pathogenicity 318116 rs7196012 16:15818346-15818346 16:15724489-15724489
18 MYH11 , NDE1 NM_002474.3(MYH11):c.4116+29A>GSNV Conflicting interpretations of pathogenicity 318122 rs138543179 16:15818475-15818475 16:15724618-15724618
19 NDE1 NM_017668.3(NDE1):c.309C>G (p.Thr103=)SNV Conflicting interpretations of pathogenicity 318059 rs376548563 16:15771729-15771729 16:15677872-15677872
20 NDE1 NM_017668.3(NDE1):c.12C>T (p.Ser4=)SNV Conflicting interpretations of pathogenicity 318045 rs572790932 16:15758647-15758647 16:15664790-15664790
21 MYH11 , NDE1 NM_002474.3(MYH11):c.3859-202G>ASNV Conflicting interpretations of pathogenicity 318139 rs149894916 16:15819051-15819051 16:15725194-15725194
22 NDE1 NM_017668.3(NDE1):c.624C>T (p.Ala208=)SNV Conflicting interpretations of pathogenicity 386002 rs149046258 16:15785101-15785101 16:15691244-15691244
23 NDE1 NM_017668.3(NDE1):c.-35C>TSNV Uncertain significance 318044 rs886051721 16:15758601-15758601 16:15664744-15664744
24 NDE1 NM_017668.3(NDE1):c.*1388C>TSNV Uncertain significance 318144 rs886051753 16:15819496-15819496 16:15725639-15725639
25 MYH11 , NDE1 NM_002474.3(MYH11):c.3859-922G>TSNV Uncertain significance 318147 rs886051754 16:15819771-15819771 16:15725914-15725914
26 MYH11 , NDE1 NM_002474.3(MYH11):c.3858+807A>GSNV Uncertain significance 318150 rs554671949 16:15819898-15819898 16:15726041-15726041
27 MYH11 , NDE1 NM_002474.3(MYH11):c.3858+567A>GSNV Uncertain significance 318154 rs886051757 16:15820138-15820138 16:15726281-15726281
28 NDE1 NM_017668.3(NDE1):c.690G>A (p.Gly230=)SNV Uncertain significance 318062 rs886051725 16:15785167-15785167 16:15691310-15691310
29 NDE1 NM_017668.3(NDE1):c.921C>A (p.Ser307Arg)SNV Uncertain significance 318068 rs368310178 16:15790691-15790691 16:15696834-15696834
30 NDE1 NM_017668.3(NDE1):c.*193G>ASNV Uncertain significance 318114 rs745426392 16:15818301-15818301 16:15724444-15724444
31 MYH11 , NDE1 NM_002474.3(MYH11):c.4117-101C>ASNV Uncertain significance 318117 rs886051742 16:15818367-15818367 16:15724510-15724510
32 MYH11 , NDE1 NM_002474.3(MYH11):c.4116+110C>TSNV Uncertain significance 318120 rs558625464 16:15818394-15818394 16:15724537-15724537
33 MYH11 , NDE1 NM_002474.3(MYH11):c.3963+44T>CSNV Uncertain significance 318126 rs770305005 16:15818701-15818701 16:15724844-15724844
34 MYH11 , NDE1 NM_002474.3(MYH11):c.3859-156T>GSNV Uncertain significance 318134 rs565400287 16:15819005-15819005 16:15725148-15725148
35 NDE1 NM_017668.3(NDE1):c.720C>T (p.Thr240=)SNV Uncertain significance 318064 rs150492774 16:15788038-15788038 16:15694181-15694181
36 NDE1 NM_017668.3(NDE1):c.832G>C (p.Val278Leu)SNV Uncertain significance 318067 rs199730431 16:15790602-15790602 16:15696745-15696745
37 NDE1 NM_017668.3(NDE1):c.302C>T (p.Ala101Val)SNV Uncertain significance 287331 rs201587506 16:15771722-15771722 16:15677865-15677865
38 NDE1 NM_001143979.2(NDE1):c.-398A>CSNV Uncertain significance 318028 rs886051716 16:15737552-15737552 16:15643695-15643695
39 NDE1 NM_001143979.2(NDE1):c.-132C>TSNV Uncertain significance 318038 rs886051720 16:15743238-15743238 16:15649381-15649381
40 MYH11 , NDE1 NM_002474.3(MYH11):c.4031A>T (p.Glu1344Val)SNV Uncertain significance 318124 rs886051746 16:15818589-15818589 16:15724732-15724732
41 MYH11 , NDE1 NM_002474.3(MYH11):c.3859-830T>CSNV Uncertain significance 318146 rs564847648 16:15819679-15819679 16:15725822-15725822
42 NDE1 NM_001143979.2(NDE1):c.-512T>GSNV Uncertain significance 318026 rs886051714 16:15737438-15737438 16:15643581-15643581
43 NDE1 NM_001143979.2(NDE1):c.-340T>ASNV Uncertain significance 318030 rs752993685 16:15737610-15737610 16:15643753-15643753
44 NDE1 NM_017668.3(NDE1):c.745G>T (p.Ala249Ser)SNV Uncertain significance 318065 rs147233260 16:15788063-15788063 16:15694206-15694206
45 NDE1 NM_001143979.2(NDE1):c.-186G>TSNV Uncertain significance 318033 rs886051718 16:15737764-15737764 16:15643907-15643907
46 NDE1 NM_017668.3(NDE1):c.436A>T (p.Ile146Phe)SNV Uncertain significance 318060 rs769769294 16:15781281-15781281 16:15687424-15687424
47 NDE1 NM_017668.3(NDE1):c.632C>T (p.Ser211Phe)SNV Uncertain significance 318061 rs886051724 16:15785109-15785109 16:15691252-15691252
48 NDE1 NM_017668.3(NDE1):c.*896A>CSNV Uncertain significance 318130 rs113151354 16:15819004-15819004 16:15725147-15725147
49 MYH11 , NDE1 NM_002474.3(MYH11):c.3859-173T>CSNV Uncertain significance 318138 rs886051751 16:15819022-15819022 16:15725165-15725165
50 MYH11 , NDE1 NM_002474.3(MYH11):c.3859-414T>CSNV Uncertain significance 318141 rs886051752 16:15819263-15819263 16:15725406-15725406

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
11.98 NDE1 MIR484
2
Show member pathways
11.88 NDE1 MIR484
3
Show member pathways
11.66 NDE1 MYH11 MIR484
4
Show member pathways
11.49 NDE1 MIR484

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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