LIS4
MCID: LSS010
MIFTS: 32

Lissencephaly 4 (LIS4)

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

Aliases & Classifications for Lissencephaly 4

MalaCards integrated aliases for Lissencephaly 4:

Name: Lissencephaly 4 58 76 30 13 6 74
Lissencephaly 4 with Microcephaly 58 76
Microlissencephaly 76 74
Lis4 58 76
Lissencephaly, Type 4 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
lissencephaly 4:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Lissencephaly 4

OMIM : 58 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 : 76 Lissencephaly 4: A neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound mental retardation.

Related Diseases for Lissencephaly 4

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:

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

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
lissencephaly
agenesis of the corpus callosum
seizures (in some patients)
simplified gyral pattern
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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparative Bioequivalence Study of Wockhardt's Insulin Analogue Lispro (Listroâ„¢) With Humalog® in Healthy Subjects Withdrawn NCT01399255 Phase 1

Search NIH Clinical Center for Lissencephaly 4

Genetic Tests for Lissencephaly 4

Genetic tests related to Lissencephaly 4:

# Genetic test Affiliating Genes
1 Lissencephaly 4 30 NDE1

Anatomical Context for Lissencephaly 4

MalaCards organs/tissues related to Lissencephaly 4:

42
Brain, Cortex, Cerebellum, Skin

Publications for Lissencephaly 4

Articles related to Lissencephaly 4:

# Title Authors Year
1
The first quaternary diamond-like semiconductor with 10-membered LiS4 rings exhibiting excellent nonlinear optical performances. ( 28144643 )
2017
2
Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. ( 21529751 )
2011
3
The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. ( 21529752 )
2011

Variations for Lissencephaly 4

ClinVar genetic disease variations for Lissencephaly 4:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 NDE1 NM_001143979.1(NDE1): c.684_685delAC (p.Pro229Trpfs) deletion Pathogenic GRCh37 Chromosome 16, 15785161: 15785162
2 NDE1 NM_001143979.1(NDE1): c.684_685delAC (p.Pro229Trpfs) deletion Pathogenic GRCh38 Chromosome 16, 15691304: 15691305
3 NDE1 NDE1, IVS2DS, G-T, +1 single nucleotide variant Pathogenic
4 NDE1 NM_001143979.1(NDE1): c.733dup (p.Leu245Profs) duplication Pathogenic GRCh37 Chromosome 16, 15788051: 15788051
5 NDE1 NM_001143979.1(NDE1): c.733dup (p.Leu245Profs) duplication Pathogenic GRCh38 Chromosome 16, 15694194: 15694194
6 NDE1 NM_001143979.1(NDE1): c.84-5T> C single nucleotide variant Uncertain significance rs587783872 GRCh37 Chromosome 16, 15761138: 15761138
7 NDE1 NM_001143979.1(NDE1): c.84-5T> C single nucleotide variant Uncertain significance rs587783872 GRCh38 Chromosome 16, 15667281: 15667281
8 NDE1 NM_001143979.1(NDE1): c.623C> T (p.Ala208Val) single nucleotide variant Uncertain significance rs587783867 GRCh37 Chromosome 16, 15785100: 15785100
9 NDE1 NM_001143979.1(NDE1): c.623C> T (p.Ala208Val) single nucleotide variant Uncertain significance rs587783867 GRCh38 Chromosome 16, 15691243: 15691243
10 NDE1 NM_001143979.1(NDE1): c.658C> T (p.Arg220Ter) single nucleotide variant Pathogenic rs576928842 GRCh37 Chromosome 16, 15785135: 15785135
11 NDE1 NM_001143979.1(NDE1): c.658C> T (p.Arg220Ter) single nucleotide variant Pathogenic rs576928842 GRCh38 Chromosome 16, 15691278: 15691278
12 NDE1 NM_001143979.1(NDE1): c.744G> A (p.Ala248=) single nucleotide variant Conflicting interpretations of pathogenicity rs1123418 GRCh37 Chromosome 16, 15788062: 15788062
13 NDE1 NM_001143979.1(NDE1): c.744G> A (p.Ala248=) single nucleotide variant Conflicting interpretations of pathogenicity rs1123418 GRCh38 Chromosome 16, 15694205: 15694205
14 NDE1 NM_001143979.1(NDE1): c.872C> T (p.Ser291Phe) single nucleotide variant Uncertain significance rs146284370 GRCh37 Chromosome 16, 15790642: 15790642
15 NDE1 NM_001143979.1(NDE1): c.872C> T (p.Ser291Phe) single nucleotide variant Uncertain significance rs146284370 GRCh38 Chromosome 16, 15696785: 15696785
16 MYH11; NDE1 NM_001143979.1(NDE1): c.956C> T (p.Thr319Met) single nucleotide variant Uncertain significance rs141262029 GRCh37 Chromosome 16, 15818056: 15818056
17 MYH11; NDE1 NM_001143979.1(NDE1): c.956C> T (p.Thr319Met) single nucleotide variant Uncertain significance rs141262029 GRCh38 Chromosome 16, 15724199: 15724199
18 NDE1 NM_001143979.1(NDE1): c.155C> T (p.Thr52Met) single nucleotide variant Uncertain significance rs148118152 GRCh37 Chromosome 16, 15761214: 15761214
19 NDE1 NM_001143979.1(NDE1): c.155C> T (p.Thr52Met) single nucleotide variant Uncertain significance rs148118152 GRCh38 Chromosome 16, 15667357: 15667357
20 NDE1 NM_001143979.1(NDE1): c.302C> T (p.Ala101Val) single nucleotide variant Uncertain significance rs201587506 GRCh37 Chromosome 16, 15771722: 15771722
21 NDE1 NM_001143979.1(NDE1): c.302C> T (p.Ala101Val) single nucleotide variant Uncertain significance rs201587506 GRCh38 Chromosome 16, 15677865: 15677865
22 NDE1 NM_001143979.1(NDE1): c.83+1G> T single nucleotide variant Pathogenic rs1456594953 GRCh37 Chromosome 16, 15758719: 15758719
23 NDE1 NM_001143979.1(NDE1): c.83+1G> T single nucleotide variant Pathogenic rs1456594953 GRCh38 Chromosome 16, 15664862: 15664862
24 NDE1 NM_001143979.1(NDE1): c.701G> A (p.Arg234His) single nucleotide variant Uncertain significance rs138255766 GRCh38 Chromosome 16, 15691321: 15691321
25 NDE1 NM_001143979.1(NDE1): c.701G> A (p.Arg234His) single nucleotide variant Uncertain significance rs138255766 GRCh37 Chromosome 16, 15785178: 15785178
26 NDE1 GRCh37/hg19 16p13.11(chr16: 15758011-15761384) copy number loss Pathogenic GRCh37 Chromosome 16, 15758011: 15761384

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 MYH11 NDE1

GO Terms for Lissencephaly 4

Sources for Lissencephaly 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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