MCID: LSS010
MIFTS: 30

Lissencephaly 4

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

Aliases & Classifications for Lissencephaly 4

MalaCards integrated aliases for Lissencephaly 4:

Name: Lissencephaly 4 57 75 29 13 6 73
Lissencephaly 4 with Microcephaly 57 75
Microlissencephaly 75 73
Lis4 57 75
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:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



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, cerebellum and cortex, and related phenotypes are microcephaly and seizures

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

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

Human phenotypes related to Lissencephaly 4:

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

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 29 NDE1

Anatomical Context for Lissencephaly 4

MalaCards organs/tissues related to Lissencephaly 4:

41
Brain, Cerebellum, Cortex

Publications for Lissencephaly 4

Variations for Lissencephaly 4

ClinVar genetic disease variations for Lissencephaly 4:

6
(show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 NDE1 NDE1, 2-BP DEL, 684AC deletion Pathogenic
2 NDE1 NDE1, IVS2DS, G-T, +1 single nucleotide variant Pathogenic
3 NDE1 NDE1, 1-BP DUP, 733C duplication Pathogenic
4 NDE1 NM_001143979.1(NDE1): c.84-5T> C single nucleotide variant Uncertain significance rs587783872 GRCh37 Chromosome 16, 15761138: 15761138
5 NDE1 NM_001143979.1(NDE1): c.84-5T> C single nucleotide variant Uncertain significance rs587783872 GRCh38 Chromosome 16, 15667281: 15667281
6 NDE1 NM_001143979.1(NDE1): c.623C> T (p.Ala208Val) single nucleotide variant Uncertain significance rs587783867 GRCh37 Chromosome 16, 15785100: 15785100
7 NDE1 NM_001143979.1(NDE1): c.623C> T (p.Ala208Val) single nucleotide variant Uncertain significance rs587783867 GRCh38 Chromosome 16, 15691243: 15691243
8 NDE1 NM_001143979.1(NDE1): c.658C> T (p.Arg220Ter) single nucleotide variant Pathogenic rs576928842 GRCh37 Chromosome 16, 15785135: 15785135
9 NDE1 NM_001143979.1(NDE1): c.658C> T (p.Arg220Ter) single nucleotide variant Pathogenic rs576928842 GRCh38 Chromosome 16, 15691278: 15691278
10 NDE1 NM_001143979.1(NDE1): c.744G> A (p.Ala248=) single nucleotide variant Conflicting interpretations of pathogenicity rs1123418 GRCh37 Chromosome 16, 15788062: 15788062
11 NDE1 NM_001143979.1(NDE1): c.744G> A (p.Ala248=) single nucleotide variant Conflicting interpretations of pathogenicity rs1123418 GRCh38 Chromosome 16, 15694205: 15694205
12 NDE1 NM_001143979.1(NDE1): c.872C> T (p.Ser291Phe) single nucleotide variant Uncertain significance rs146284370 GRCh37 Chromosome 16, 15790642: 15790642
13 NDE1 NM_001143979.1(NDE1): c.872C> T (p.Ser291Phe) single nucleotide variant Uncertain significance rs146284370 GRCh38 Chromosome 16, 15696785: 15696785
14 MYH11; NDE1 NM_001143979.1(NDE1): c.956C> T (p.Thr319Met) single nucleotide variant Uncertain significance rs141262029 GRCh37 Chromosome 16, 15818056: 15818056
15 MYH11; NDE1 NM_001143979.1(NDE1): c.956C> T (p.Thr319Met) single nucleotide variant Uncertain significance rs141262029 GRCh38 Chromosome 16, 15724199: 15724199
16 NDE1 NM_001143979.1(NDE1): c.83+1G> T single nucleotide variant Pathogenic GRCh38 Chromosome 16, 15664862: 15664862
17 NDE1 NM_001143979.1(NDE1): c.83+1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 16, 15758719: 15758719

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

Molecular functions related to Lissencephaly 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 8.62 MYH11 NDE1

Sources for Lissencephaly 4

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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