LIS4
MCID: LSS010
MIFTS: 46

Lissencephaly 4 (LIS4)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Lissencephaly 4

MalaCards integrated aliases for Lissencephaly 4:

Name: Lissencephaly 4 57 11 73 28 5 14 71
Lissencephaly 4 with Microcephaly 57 11 73
Lis4 57 11 73
Microlissencephaly 73 71
Lissencephaly, Type 4 38

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in utero
lack of psychomotor development
four families have been reported (last curated june 2011)


Classifications:



External Ids:

Disease Ontology 11 DOID:0112235
OMIM® 57 614019
OMIM Phenotypic Series 57 PS607432
MeSH 43 D054082
MedGen 40 C3151461
UMLS 71 C1956147 C3151461

Summaries for Lissencephaly 4

OMIM®: 57 Lissencephaly-4 (LIS4) 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 08-Dec-2022)

MalaCards based summary: Lissencephaly 4, also known as lissencephaly 4 with microcephaly, is related to lissencephaly 2 and lissencephaly 1. An important gene associated with Lissencephaly 4 is NDE1 (NudE Neurodevelopment Protein 1), and among its related pathways/superpathways are Cell Cycle Checkpoints and Neurogenesis regulation in the olfactory epithelium. Affiliated tissues include brain, cortex and cerebellum, and related phenotypes are seizure and agenesis of corpus callosum

Disease Ontology: 11 A microlissencephaly characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability that has material basis in homozygous or compound heterozygous mutation in NDE1 on chromosome 16p13.11.

UniProtKB/Swiss-Prot: 73 A neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability.

Related Diseases for Lissencephaly 4

Diseases in the Lissencephaly family:

Lissencephaly 2 Lissencephaly 1
Lissencephaly 3 Lissencephaly 4
Lissencephaly 5 Lissencephaly 8
Lissencephaly 10 Lissencephaly 6

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

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 lissencephaly 2 32.0 PAFAH1B1 NDE1
2 lissencephaly 1 29.9 YWHAE PAFAH1B1 NDEL1 NDE1
3 microlissencephaly 29.8 PAFAH1B1 NDEL1 NDE1
4 lissencephaly 29.6 YWHAE PAFAH1B1 NDEL1 NDE1
5 microlissencephaly-micromelia syndrome 11.3
6 cortical dysplasia, complex, with other brain malformations 7 11.1
7 lissencephaly 6 10.9
8 corpus callosum, agenesis of 10.2
9 cerebellar hypoplasia 10.1
10 polymicrogyria, bilateral perisylvian, x-linked 10.0 YWHAE NDE1
11 pontocerebellar hypoplasia 10.0
12 polymicrogyria 10.0
13 tubulinopathy 10.0
14 band heterotopia 10.0 PAFAH1B1 NDEL1 NDE1
15 periventricular nodular heterotopia 10.0 PAFAH1B1 NDEL1 NDE1
16 chromosome 17p13.3, centromeric, duplication syndrome 10.0 YWHAE PAFAH1B1 NDEL1
17 microhydranencephaly 9.9
18 microcephaly 9.9
19 spastic quadriplegia 9.9
20 quadriplegia 9.9
21 potocki-lupski syndrome 9.9 YWHAE PAFAH1B1
22 miller-dieker lissencephaly syndrome 9.9 YWHAE PAFAH1B1 NDEL1 NDE1
23 arthrogryposis, distal, type 1a 9.8
24 hypertelorism 9.8
25 fetal akinesia deformation sequence 1 9.8
26 microcephalic osteodysplastic primordial dwarfism, type i 9.8
27 hydrocephalus, congenital, 1 9.8
28 baraitser-winter syndrome 1 9.8
29 isolated growth hormone deficiency, type ia 9.8
30 pseudovaginal perineoscrotal hypospadias 9.8
31 roberts-sc phocomelia syndrome 9.8
32 lissencephaly 3 9.8
33 cortical dysplasia, complex, with other brain malformations 1 9.8
34 pontocerebellar hypoplasia, type 1b 9.8
35 microcephaly 17, primary, autosomal recessive 9.8
36 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 9.8
37 distal arthrogryposis 9.8
38 baraitser-winter syndrome 9.8
39 primary microcephaly 9.8
40 spinal muscular atrophy 9.8
41 osteochondrodysplasia 9.8
42 hydranencephaly 9.8
43 muscular atrophy 9.8
44 baraitser-winter cerebrofrontofacial syndrome 9.8
45 exosc3 pontocerebellar hypoplasia 9.8
46 penis agenesis 9.8
47 hypotonia 9.8
48 spasticity 9.8
49 cerebellar malformation 9.8
50 rhombencephalosynapsis 9.8

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:

30 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizure 30 Very rare (1%) HP:0001250
2 agenesis of corpus callosum 30 Very rare (1%) HP:0001274
3 hyperreflexia 30 Very rare (1%) HP:0001347
4 global developmental delay 30 Very rare (1%) HP:0001263
5 wide nasal bridge 30 Very rare (1%) HP:0000431
6 short stature 30 Very rare (1%) HP:0004322
7 hypertonia 30 Very rare (1%) HP:0001276
8 cerebellar hypoplasia 30 Very rare (1%) HP:0001321
9 babinski sign 30 Very rare (1%) HP:0003487
10 feeding difficulties 30 Very rare (1%) HP:0011968
11 colpocephaly 30 Very rare (1%) HP:0030048
12 lissencephaly 30 Very rare (1%) HP:0001339
13 intellectual disability, profound 30 Very rare (1%) HP:0002187
14 simplified gyral pattern 30 Very rare (1%) HP:0009879
15 primary microcephaly 30 Very rare (1%) HP:0011451

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

MGI Mouse Phenotypes related to Lissencephaly 4:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.23 CNGB3 DCTN6 MATN3 NDE1 NDEL1 PAFAH1B1

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 28 NDE1

Anatomical Context for Lissencephaly 4

Organs/tissues related to Lissencephaly 4:

MalaCards : Brain, Cortex, Cerebellum, Fetal Brain, Eye
ODiseA: Brain

Publications for Lissencephaly 4

Articles related to Lissencephaly 4:

(show top 50) (show all 54)
# Title Authors PMID Year
1
Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly. 62 57 5
30637988 2019
2
Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. 62 57 5
21529751 2011
3
The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. 62 57 5
21529752 2011
4
Mitotic spindle regulation by Nde1 controls cerebral cortical size. 57
15473967 2004
5
Tubulin mutations in human neurodevelopmental disorders. 62
35915025 2023
6
Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita. 62
35686685 2022
7
Neurological outcome in WDR62 primary microcephaly. 62
35726608 2022
8
Magnetic Resonance Imaging of Malformations of Cortical Development-A Comprehensive Review. 62
34896352 2022
9
NDE1-related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly. 62
34562061 2022
10
A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia. 62
33996189 2021
11
Ternary alkali ion thiogallates, A5GaS4 (A = Li and Na), with isolated tetrahedral building units and their ionic conductivities. 62
33960993 2021
12
Two different prenatal imaging cerebral patterns of tubulinopathy. 62
32149430 2021
13
Electrographic pattern recognition: A simple tool to predict clinical outcome in children with lissencephaly. 62
33161247 2020
14
[Microlissencephaly due to pathogenic variants of NDE1: from pathology to normal brain development]. 62
33026328 2020
15
Prenatal sonographic diagnosis of Dandy-Walker malformation and type III lissencephaly: A novel association. 62
31859376 2020
16
Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly. 62
31586943 2020
17
Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B. 62
31770597 2020
18
Tubulin genes and malformations of cortical development. 62
30016746 2018
19
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells. 62
28969387 2017
20
Value of Repeat Brain MRI in Children with Focal Epilepsy and Negative Findings on Initial MRI. 62
28670168 2017
21
The first quaternary diamond-like semiconductor with 10-membered LiS4 rings exhibiting excellent nonlinear optical performances. 62
28144643 2017
22
Katanin p80, NuMA and cytoplasmic dynein cooperate to control microtubule dynamics. 62
28079116 2017
23
[Neu-Laxova syndrome: Three case reports and a review of the literature]. 62
27475004 2016
24
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons. 62
27453579 2016
25
De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. 62
26732629 2016
26
Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain. 62
26599961 2016
27
TUBA1A Mutation Associated With Eye Abnormalities in Addition to Brain Malformation. 62
26294046 2015
28
Rare ACTG1 variants in fetal microlissencephaly. 62
26188271 2015
29
A case of Norman-Roberts syndrome identified from postnatal diagnosis of microlissencephaly. 62
25927602 2015
30
Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype. 62
25755095 2015
31
Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias. 62
26052266 2015
32
Katanin p80 regulates human cortical development by limiting centriole and cilia number. 62
25521379 2014
33
Severe presentation of WDR62 mutation: is there a role for modifying genetic factors? 62
24842779 2014
34
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. 62
25059107 2014
35
The wide spectrum of tubulinopathies: what are the key features for the diagnosis? 62
24860126 2014
36
Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly. 62
22526350 2012
37
Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations. 62
21496009 2011
38
Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III. 62
20857301 2011
39
Lissencephalic syndromes: brain and beyond. 62
20036930 2010
40
[Genetic and clinical aspects of lissencephaly]. 62
17571022 2007
41
Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia. 62
15794192 2005
42
Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature. 62
12571786 2002
43
Microlissencephaly with cardiac, spinal and urogenital defects. 62
11446415 2001
44
Actualities in hydrocephalus classification and management possibilities. 62
10672591 2000
45
Diffuse pachygyria with cerebellar hypoplasia: a milder form of microlissencephaly or a new genetic syndrome? 62
10514106 1999
46
Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis. 62
10480209 1999
47
Microlissencephaly: a heterogeneous malformation of cortical development. 62
9706619 1998
48
Microlissencephaly. 62
9588537 1998
49
Lissencephaly with extreme cerebral and cerebellar hypoplasia. A magnetic resonance imaging study. 62
8971750 1996
50
Classification of hydrocephalus and outcome of treatment. 62
8579221 1995

Variations for Lissencephaly 4

ClinVar genetic disease variations for Lissencephaly 4:

5 (show top 50) (show all 136)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NDE1 NM_017668.3(NDE1):c.733dup (p.Leu245fs) DUP Pathogenic
30789 rs749768828 GRCh37: 16:15788045-15788046
GRCh38: 16:15694188-15694189
2 NDE1 GRCh37/hg19 16p13.11(chr16:15758011-15761384) CN LOSS Pathogenic
625823 GRCh37: 16:15758011-15761384
GRCh38:
3 NDE1 NM_017668.3(NDE1):c.109C>T (p.Arg37Ter) SNV Pathogenic
620567 rs757604577 GRCh37: 16:15761168-15761168
GRCh38: 16:15667311-15667311
4 NDE1 NM_017668.3(NDE1):c.658C>T (p.Arg220Ter) SNV Pathogenic
159015 rs576928842 GRCh37: 16:15785135-15785135
GRCh38: 16:15691278-15691278
5 NDE1 NM_017668.3(NDE1):c.54G>A (p.Trp18Ter) SNV Pathogenic
1696425 GRCh37: 16:15758689-15758689
GRCh38: 16:15664832-15664832
6 NDE1 NM_017668.3(NDE1):c.684_685del (p.Pro229fs) MICROSAT Pathogenic
30787 rs756206942 GRCh37: 16:15785157-15785158
GRCh38: 16:15691300-15691301
7 NDE1 NM_017668.3(NDE1):c.83+1G>T SNV Pathogenic
435939 rs1456594953 GRCh37: 16:15758719-15758719
GRCh38: 16:15664862-15664862
8 NDE1 NM_017668.3(NDE1):c.872C>T (p.Ser291Phe) SNV Conflicting Interpretations Of Pathogenicity
Uncertain Significance
159020 rs146284370 GRCh37: 16:15790642-15790642
GRCh38: 16:15696785-15696785
9 MYH11, NDE1 NM_017668.3(NDE1):c.956C>T (p.Thr319Met) SNV Uncertain Significance
159022 rs141262029 GRCh37: 16:15818056-15818056
GRCh38: 16:15724199-15724199
10 NDE1 NM_001143979.2(NDE1):c.-398A>C SNV Uncertain Significance
318028 rs886051716 GRCh37: 16:15737552-15737552
GRCh38: 16:15643695-15643695
11 MYH11, NDE1 NM_017668.3(NDE1):c.*901C>A SNV Uncertain Significance
885962 rs1487148358 GRCh37: 16:15819009-15819009
GRCh38: 16:15725152-15725152
12 MYH11, NDE1 NM_017668.3(NDE1):c.*593A>G SNV Uncertain Significance
318126 rs770305005 GRCh37: 16:15818701-15818701
GRCh38: 16:15724844-15724844
13 MYH11, NDE1 NM_017668.3(NDE1):c.*1305C>A SNV Uncertain Significance
888227 rs201510034 GRCh37: 16:15819413-15819413
GRCh38: 16:15725556-15725556
14 MYH11, NDE1 NM_017668.3(NDE1):c.*1366C>T SNV Uncertain Significance
888228 rs2040715879 GRCh37: 16:15819474-15819474
GRCh38: 16:15725617-15725617
15 MYH11, NDE1 NM_017668.3(NDE1):c.*1383G>A SNV Uncertain Significance
888229 rs1265003834 GRCh37: 16:15819491-15819491
GRCh38: 16:15725634-15725634
16 NDE1 NM_017668.3(NDE1):c.744G>A (p.Ala248=) SNV Uncertain Significance
159018 rs1123418 GRCh37: 16:15788062-15788062
GRCh38: 16:15694205-15694205
17 NDE1 NM_001143979.2(NDE1):c.-512T>G SNV Uncertain Significance
318026 rs886051714 GRCh37: 16:15737438-15737438
GRCh38: 16:15643581-15643581
18 NDE1 NM_001143979.1(NDE1):c.-812C>T SNV Uncertain Significance
318015 rs886051710 GRCh37: 16:15737138-15737138
GRCh38: 16:15643281-15643281
19 NDE1 NM_001143979.2(NDE1):c.-695C>T SNV Uncertain Significance
318018 rs551758626 GRCh37: 16:15737255-15737255
GRCh38: 16:15643398-15643398
20 NDE1 NM_001143979.2(NDE1):c.-479C>T SNV Uncertain Significance
318027 rs886051715 GRCh37: 16:15737471-15737471
GRCh38: 16:15643614-15643614
21 NDE1 NM_001143979.2(NDE1):c.-340T>A SNV Uncertain Significance
318030 rs752993685 GRCh37: 16:15737610-15737610
GRCh38: 16:15643753-15643753
22 NDE1 NM_001143979.2(NDE1):c.-186G>T SNV Uncertain Significance
318033 rs886051718 GRCh37: 16:15737764-15737764
GRCh38: 16:15643907-15643907
23 NDE1, MIR484 NM_001143979.1(NDE1):c.-794C>T SNV Uncertain Significance
884574 rs867184365 GRCh37: 16:15737156-15737156
GRCh38: 16:15643299-15643299
24 NDE1, MIR484 NM_001143979.1(NDE1):c.-765C>T SNV Uncertain Significance
884575 rs374184031 GRCh37: 16:15737185-15737185
GRCh38: 16:15643328-15643328
25 MYH11, NDE1 NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu) SNV Uncertain Significance
201039 rs148621523 GRCh37: 16:15809106-15809106
GRCh38: 16:15715249-15715249
26 NDE1 NM_001143979.2(NDE1):c.-132C>T SNV Uncertain Significance
318038 rs886051720 GRCh37: 16:15743238-15743238
GRCh38: 16:15649381-15649381
27 MYH11, NDE1 NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr) SNV Uncertain Significance
201073 rs112467954 GRCh37: 16:15818143-15818143
GRCh38: 16:15724286-15724286
28 MYH11, NDE1 NM_002474.3(MYH11):c.3897C>T (p.Ala1299=) SNV Uncertain Significance
257258 rs190546350 GRCh37: 16:15818811-15818811
GRCh38: 16:15724954-15724954
29 NDE1 NM_017668.3(NDE1):c.624C>T (p.Ala208=) SNV Uncertain Significance
386002 rs149046258 GRCh37: 16:15785101-15785101
GRCh38: 16:15691244-15691244
30 NDE1 NM_001143979.2(NDE1):c.-246A>C SNV Uncertain Significance
886533 rs2036218596 GRCh37: 16:15737704-15737704
GRCh38: 16:15643847-15643847
31 NDE1 NM_001143979.1(NDE1):c.-825G>A SNV Uncertain Significance
887717 rs1340834896 GRCh37: 16:15737125-15737125
GRCh38: 16:15643268-15643268
32 MYH11, NDE1 NM_002474.3(MYH11):c.4016G>A (p.Arg1339His) SNV Uncertain Significance
201071 rs374271463 GRCh37: 16:15818604-15818604
GRCh38: 16:15724747-15724747
33 MYH11, NDE1 NM_017668.3(NDE1):c.*388del DEL Uncertain Significance
201034 rs543763112 GRCh37: 16:15818493-15818493
GRCh38: 16:15724636-15724636
34 NDE1 NM_017668.3(NDE1):c.155C>T (p.Thr52Met) SNV Uncertain Significance
Uncertain Significance
211577 rs148118152 GRCh37: 16:15761214-15761214
GRCh38: 16:15667357-15667357
35 NDE1 NM_017668.3(NDE1):c.302C>T (p.Ala101Val) SNV Uncertain Significance
Uncertain Significance
287331 rs201587506 GRCh37: 16:15771722-15771722
GRCh38: 16:15677865-15677865
36 NDE1 NM_017668.3(NDE1):c.701G>A (p.Arg234His) SNV Uncertain Significance
Uncertain Significance
435935 rs138255766 GRCh37: 16:15785178-15785178
GRCh38: 16:15691321-15691321
37 NDE1 NM_017668.3(NDE1):c.291G>A (p.Glu97=) SNV Uncertain Significance
884703 rs760012847 GRCh37: 16:15771711-15771711
GRCh38: 16:15677854-15677854
38 NDE1 NM_017668.3(NDE1):c.12C>T (p.Ser4=) SNV Uncertain Significance
318045 rs572790932 GRCh37: 16:15758647-15758647
GRCh38: 16:15664790-15664790
39 NDE1 NM_017668.3(NDE1):c.921C>A (p.Ser307Arg) SNV Uncertain Significance
318068 rs368310178 GRCh37: 16:15790691-15790691
GRCh38: 16:15696834-15696834
40 NDE1 NM_017668.3(NDE1):c.720C>T (p.Thr240=) SNV Uncertain Significance
318064 rs150492774 GRCh37: 16:15788038-15788038
GRCh38: 16:15694181-15694181
41 NDE1 NM_017668.3(NDE1):c.309C>G (p.Thr103=) SNV Uncertain Significance
318059 rs376548563 GRCh37: 16:15771729-15771729
GRCh38: 16:15677872-15677872
42 NDE1 NM_017668.3(NDE1):c.386+9G>A SNV Uncertain Significance
288031 rs147174812 GRCh37: 16:15771815-15771815
GRCh38: 16:15677958-15677958
43 NDE1 NM_017668.3(NDE1):c.84-5T>C SNV Uncertain Significance
159019 rs587783872 GRCh37: 16:15761138-15761138
GRCh38: 16:15667281-15667281
44 NDE1 NM_017668.3(NDE1):c.623C>T (p.Ala208Val) SNV Uncertain Significance
159014 rs587783867 GRCh37: 16:15785100-15785100
GRCh38: 16:15691243-15691243
45 NDE1 NM_017668.3(NDE1):c.145G>T (p.Glu49Ter) SNV Uncertain Significance
631746 rs1567627484 GRCh37: 16:15761204-15761204
GRCh38: 16:15667347-15667347
46 NDE1 NM_017668.3(NDE1):c.214C>T (p.Arg72Cys) SNV Uncertain Significance
800855 rs777008106 GRCh37: 16:15761273-15761273
GRCh38: 16:15667416-15667416
47 NDE1 NM_017668.3(NDE1):c.524-6G>A SNV Uncertain Significance
884704 rs770035211 GRCh37: 16:15784995-15784995
GRCh38: 16:15691138-15691138
48 NDE1 NM_017668.3(NDE1):c.712G>A (p.Asp238Asn) SNV Uncertain Significance
885644 rs369224665 GRCh37: 16:15788030-15788030
GRCh38: 16:15694173-15694173
49 NDE1 NM_017668.3(NDE1):c.184A>G (p.Arg62Gly) SNV Uncertain Significance
886605 rs1000629971 GRCh37: 16:15761243-15761243
GRCh38: 16:15667386-15667386
50 NDE1 NM_017668.3(NDE1):c.814G>A (p.Ala272Thr) SNV Uncertain Significance
886655 rs1360459460 GRCh37: 16:15790584-15790584
GRCh38: 16:15696727-15696727

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
11.92 YWHAE PAFAH1B1 NDEL1 NDE1
2 10.91 PAFAH1B1 NDEL1
3 10.25 YWHAE PAFAH1B1 NDEL1

GO Terms for Lissencephaly 4

Cellular components related to Lissencephaly 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.96 DCTN6 NDE1 NDEL1 PAFAH1B1 RRP7A
2 cytoskeleton GO:0005856 9.85 VASP RRP7A PAFAH1B1 NDEL1 NDE1 DCTN6
3 kinesin complex GO:0005871 9.63 PAFAH1B1 NDEL1 NDE1
4 microtubule organizing center GO:0005815 9.62 RRP7A PAFAH1B1 NDEL1 NDE1
5 chromosome, centromeric region GO:0000775 9.58 NDEL1 NDE1 DCTN6
6 kinetochore GO:0000776 9.56 PAFAH1B1 NDEL1 NDE1 DCTN6
7 central region of growth cone GO:0090724 8.92 PAFAH1B1 NDEL1

Biological processes related to Lissencephaly 4 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cerebral cortex development GO:0021987 9.91 YWHAE PAFAH1B1 NDE1
2 positive regulation of axon extension GO:0045773 9.83 PAFAH1B1 NDEL1
3 microtubule nucleation GO:0007020 9.81 NDEL1 NDE1
4 centrosome localization GO:0051642 9.8 NDEL1 NDE1
5 establishment of mitotic spindle orientation GO:0000132 9.8 NDE1 NDEL1 PAFAH1B1
6 retrograde axonal transport GO:0008090 9.76 PAFAH1B1 NDEL1
7 mitotic centrosome separation GO:0007100 9.71 NDEL1 NDE1
8 neuron migration GO:0001764 9.7 YWHAE PAFAH1B1 NDEL1 NDE1
9 nuclear membrane disassembly GO:0051081 9.67 NDEL1 PAFAH1B1
10 microtubule organizing center organization GO:0031023 9.65 PAFAH1B1 NDE1
11 radial glia-guided pyramidal neuron migration GO:0140650 9.56 PAFAH1B1 NDEL1
12 establishment of chromosome localization GO:0051303 9.26 NDEL1 NDE1
13 vesicle transport along microtubule GO:0047496 9.1 PAFAH1B1 NDEL1 NDE1

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

# Name GO ID Score Top Affiliating Genes
1 dynein complex binding GO:0070840 8.92 PAFAH1B1 DCTN6

Sources for Lissencephaly 4

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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