LIS4
MCID: LSS010
MIFTS: 33

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 is Signaling by Rho GTPases. Affiliated tissues include brain, cortex and cerebellum, and related phenotypes are seizures 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

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 microlissencephaly 12.7
2 microlissencephaly-micromelia syndrome 12.2
3 obsolete: microlissencephaly type b 12.2
4 lissencephaly 2 12.0
5 lissencephaly 11.7
6 cortical dysplasia, complex, with other brain malformations 7 11.6
7 microcephaly 10.5
8 cerebellar hypoplasia 10.3
9 pachygyria 10.3
10 corpus callosum, agenesis of 10.2
11 alacrima, achalasia, and mental retardation syndrome 10.2
12 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.2
13 polymicrogyria 10.2
14 tubulinopathies 10.2
15 hypertelorism 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 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 10.0
30 distal arthrogryposis 10.0
31 baraitser-winter syndrome 10.0
32 pontocerebellar hypoplasia 10.0
33 primary autosomal recessive microcephaly 10.0
34 primary microcephaly 10.0
35 spinal muscular atrophy 10.0
36 hydranencephaly 10.0
37 muscular atrophy 10.0
38 baraitser-winter cerebrofrontofacial syndrome 10.0
39 dwarfism 10.0
40 hypotonia 10.0
41 spasticity 10.0
42 cerebellar malformation 10.0
43 congenital amyoplasia 10.0
44 rhombencephalosynapsis 10.0
45 chronic intestinal pseudoobstruction 9.5 NDE1 MYH11
46 aortic aneurysm, familial thoracic 4 9.4 NDE1 MYH11
47 aortic aneurysm, familial thoracic 6 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 seizures 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:

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]. 56 6
21529751 2011
2
The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. 56 6
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 all 16) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NDE1 NM_017668.3(NDE1):c.658C>T (p.Arg220Ter)SNV Pathogenic 159015 rs576928842 16:15785135-15785135 16:15691278-15691278
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 GRCh37/hg19 16p13.11(chr16:15758011-15761384)copy number loss Pathogenic 625823 16:15758011-15761384
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 Uncertain significance 159020 rs146284370 16:15790642-15790642 16:15696785-15696785
9 MYH11 , NDE1 NM_002474.3(MYH11):c.4327G>A (p.Val1443Met)SNV Uncertain significance 159022 rs141262029 16:15818056-15818056 16:15724199-15724199
10 NDE1 NM_017668.3(NDE1):c.155C>T (p.Thr52Met)SNV Uncertain significance 211577 rs148118152 16:15761214-15761214 16:15667357-15667357
11 NDE1 NM_017668.3(NDE1):c.302C>T (p.Ala101Val)SNV Uncertain significance 287331 rs201587506 16:15771722-15771722 16:15677865-15677865
12 NDE1 NM_017668.3(NDE1):c.145G>T (p.Glu49Ter)SNV Uncertain significance 631746 rs1567627484 16:15761204-15761204 16:15667347-15667347
13 NDE1 NM_017668.3(NDE1):c.214C>T (p.Arg72Cys)SNV Uncertain significance 800855 16:15761273-15761273 16:15667416-15667416
14 NDE1 NM_017668.3(NDE1):c.701G>A (p.Arg234His)SNV Uncertain significance 435935 rs138255766 16:15785178-15785178 16:15691321-15691321
15 NDE1 NM_017668.3(NDE1):c.84-5T>CSNV Uncertain significance 159019 rs587783872 16:15761138-15761138 16:15667281-15667281
16 NDE1 NM_017668.3(NDE1):c.623C>T (p.Ala208Val)SNV Uncertain significance 159014 rs587783867 16:15785100-15785100 16:15691243-15691243

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 NDE1 MYH11

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
Content
Loading form....