LIS1
MCID: LSS005
MIFTS: 59

Lissencephaly 1 (LIS1)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Lissencephaly 1

MalaCards integrated aliases for Lissencephaly 1:

Name: Lissencephaly 1 57 11 19 73 14
Lis1 57 11 19 42 73
Lissencephaly Due to Lis1 Mutation 58 28 5
Subcortical Laminar Heterotopia 57 73 5
Classic Lissencephaly 19 58 73
Ils 57 19 42
Lissencephaly Sequence, Isolated 57 53
Pafah1b1-Related Lissencephaly 11 58
Subcortical Band Heterotopia 73 71
Classical Lissencephaly 42 71
Lissencephaly, Classic 57 42
Lissencephaly Type 1 42 58
Lissencephaly-1 73 12
Double Cortex 73 71
Lissencephaly Sequence Isolated 19
Isolated Lissencephaly Sequence 42
Lissencephaly Syndrome Type 1 75
Lissencephaly Classic 19
Lissencephaly, Type 1 38
Type 1 Lissencephaly 42
Type I Lissencephaly 71
Sclh 73
Sbh 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable severity
de novo mutation


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Lissencephaly 1

MedlinePlus Genetics: 42 Isolated lissencephaly sequence (ILS) is a condition that affects brain development before birth. Normally, the cells that make up the exterior of the brain (cerebral cortex) are well-organized, multi-layered, and arranged into many folds and grooves (gyri). In people with ILS, the cells of the cerebral cortex are disorganized, and the brain surface is abnormally smooth with an absence (agyria) or reduction (pachygyria) of folds and grooves. In most cases, these abnormalities impair brain growth, causing the brain to be smaller than normal (microcephaly). This underdevelopment of the brain causes severe intellectual disability, delayed development, and recurrent seizures (epilepsy) in individuals with ILS.More than 90 percent of individuals with ILS develop epilepsy, often within the first year of life. Up to 80 percent of infants with ILS have a type of seizure called infantile spasms, these seizures can be severe enough to cause brain dysfunction (epileptic encephalopathy). After the first months of life, most children with ILS develop a variety of seizure types, including persisting infantile spasms, short periods of loss of consciousness (absence seizures); sudden episodes of weak muscle tone (drop attacks); rapid, uncontrolled muscle jerks (myoclonic seizures); and episodes of muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures).Infants with ILS may have poor muscle tone (hypotonia) and difficulty feeding, which leads to poor growth overall. Hypotonia also affects the muscles used for breathing, which often causes breathing problems that can lead to a life-threatening bacterial lung infection known as aspiration pneumonia. Children with ILS often develop muscle stiffness (spasticity) in their arms and legs and an abnormal side-to-side curvature of the spine (scoliosis). Rarely, the muscle stiffness will progress to paralysis (spastic paraplegia). Individuals with ILS cannot walk and rarely crawl. Most children with ILS do not develop communication skills.

MalaCards based summary: Lissencephaly 1, also known as lis1, is related to lissencephaly, x-linked, 1 and lissencephaly 10. An important gene associated with Lissencephaly 1 is PAFAH1B1 (Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1), and among its related pathways/superpathways are Cell Cycle Checkpoints and Neuroscience. The drugs Prednisolone phosphate and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include cortex, brain and lung, and related phenotypes are infantile spasms and thick cerebral cortex

OMIM®: 57 Lissencephaly (LIS), literally meaning smooth brain, is characterized by smooth or nearly smooth cerebral surface and a paucity of gyral and sulcal development, encompassing a spectrum of brain surface malformations ranging from complete agyria to subcortical band heterotopia (SBH). Classic lissencephaly is associated with an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia. SBH consists of circumferential bands of heterotopic neurons located just beneath the cortex and separated from it by a thin band of white matter. SBH represents the less severe end of the lissencephaly spectrum of malformations (Pilz et al., 1999, summary by Kato and Dobyns, 2003). Agyria, i.e., brain without convolutions or gyri, was considered a rare malformation until recent progress in neuroradiology (Bordarier et al., 1986). With this technical advantage, a number of lissencephaly syndromes have been distinguished. Classic lissencephaly (formerly type I) is a brain malformation caused by abnormal neuronal migration at 9 to 13 weeks' gestation, resulting in a spectrum of agyria, mixed agyria/pachygyria, and pachygyria. It is characterized by an abnormally thick and poorly organized cortex with 4 primitive layers, diffuse neuronal heterotopia, enlarged and dysmorphic ventricles, and often hypoplasia of the corpus callosum (Lo Nigro et al., 1997). Kato and Dobyns (2003) presented a classification system for neuronal migration disorders based on brain imaging findings and molecular analysis. The authors also reviewed the contributions and interactions of the 5 genes then known to cause human lissencephaly: LIS1 (PAFAH1B1), 14-3-3-epsilon (YWHAE), DCX, RELN, and ARX. (607432) (Updated 08-Dec-2022)

GARD: 19 PAFAH1B1-associated lissencephaly includes Miller-Dieker syndrome (MDS), isolated lissencephaly sequence (ILS), and (rarely) subcortical band heterotopia (SBH). Lissencephaly and SBH are cortical malformations caused by deficient neuronal migration during embryogenesis. Lissencephaly refers to a \"smooth brain\" with absent gyri (agyria) or abnormally wide gyri (pachygyria). SBH refers to a band of heterotopic gray matter located just beneath the cortex and separated from it by a thin zone of normal white matter. MDS is characterized by lissencephaly, typical facial features, and severe neurologic abnormalities. ILS is characterized by lissencephaly and its direct sequelae: developmental delay, intellectual disability, and seizures.

UniProtKB/Swiss-Prot 73 Lissencephaly 1: A classical lissencephaly. It is characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six- layered cortex. The cortex is abnormally thick and poorly organized with 4 primitive layers. Associated with enlarged and dysmorphic ventricles and often hypoplasia of the corpus callosum.

Subcortical band heterotopia: SBH is a mild brain malformation of the lissencephaly spectrum. It is characterized by bilateral and symmetric plates or bands of gray matter found in the central white matter between the cortex and cerebral ventricles, cerebral convolutions usually appearing normal.

Orphanet: 58 Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.

Disease Ontology: 11 A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has material basis in mutation heterozygous in PAFAH1B1 on chromosome 17p13.3.

Wikipedia: 75 Lissencephaly (/ˌlɪs.ɛnˈsɛf.əl.i/, meaning "smooth brain") is a set of rare brain disorders whereby the... more...

Related Diseases for Lissencephaly 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 205)
# Related Disease Score Top Affiliating Genes
1 lissencephaly, x-linked, 1 32.4 PAFAH1B1 DCX
2 lissencephaly 10 31.7 RELN PAFAH1B1 DCX
3 lissencephaly 7 with cerebellar hypoplasia 31.6 RELN PAFAH1B1 DCX
4 band heterotopia 31.5 RELN PAFAH1B1 NDEL1 NDE1 DCX
5 lissencephaly 4 31.4 YWHAE PAFAH1B1 NDEL1 NDE1
6 chromosome 17p13.3, centromeric, duplication syndrome 30.1 YWHAE PAFAH1B1 NDEL1 DCX
7 periventricular nodular heterotopia 30.0 RELN PAFAH1B1 NDEL1 NDE1 DCX
8 lissencephaly 2 30.0 RELN PAFAH1B1 NDE1
9 cerebellar hypoplasia 30.0 RELN PAFAH1B1 DCX
10 tubulinopathy 29.8 RELN PAFAH1B1
11 pervasive developmental disorder 29.8 RELN PAGR1 DISC1
12 psychotic disorder 29.7 RELN PAGR1 NDEL1 DISC1
13 miller-dieker lissencephaly syndrome 29.3 YWHAE RELN PAFAH1B1 NDEL1 NDE1 DISC1
14 schizophrenia 29.1 YWHAE RELN PLA2G7 PAFAH1B1 NDEL1 NDE1
15 lissencephaly 28.3 YWHAE WDR47 RMND5B RMND5A RELN RANBP9
16 cortical dysplasia, complex, with other brain malformations 3 11.3
17 cortical dysplasia, complex, with other brain malformations 4 11.3
18 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 11.3
19 isolated lissencephaly type 1 without known genetic defects 11.3
20 lissencephaly, x-linked, 2 10.9
21 lissencephaly 5 10.9
22 lissencephaly 6 with microcephaly 10.9
23 lissencephaly 8 10.9
24 lissencephaly 9 with complex brainstem malformation 10.9
25 aspergillosis 10.3
26 turner syndrome 10.3
27 hypertelorism 10.2
28 febrile seizures 10.2
29 autoimmune disease 10.2
30 periventricular nodular heterotopia 1 10.1
31 status epilepticus 10.1
32 schizophrenia 1 10.1
33 suppression of tumorigenicity 12 10.1
34 dcx-related disorders 10.1
35 neuronopathy, distal hereditary motor, type viib 10.1 NDEL1 CLIP1
36 coloboma of macula 10.1
37 dilution, pigmentary 10.1
38 chromosome 2q35 duplication syndrome 10.1
39 corpus callosum, agenesis of 10.1
40 phenylketonuria 10.1
41 hypomelanosis of ito 10.1
42 lowe oculocerebrorenal syndrome 10.1
43 aspiration pneumonia 10.1
44 asperger syndrome 10.1
45 aphasia 10.1
46 baraitser-winter syndrome 10.1
47 ptosis 10.1
48 respiratory failure 10.1
49 iron metabolism disease 10.1
50 dysgraphia 10.1

Graphical network of the top 20 diseases related to Lissencephaly 1:



Diseases related to Lissencephaly 1

Symptoms & Phenotypes for Lissencephaly 1

Human phenotypes related to Lissencephaly 1:

58 30 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 infantile spasms 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012469
2 thick cerebral cortex 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006891
3 tetraplegia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002445
4 intellectual disability, severe 58 30 Frequent (33%) Frequent (79-30%)
HP:0010864
5 ventriculomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0002119
6 poor head control 58 30 Frequent (33%) Frequent (79-30%)
HP:0002421
7 feeding difficulties 58 30 Frequent (33%) Frequent (79-30%)
HP:0011968
8 hypoplasia of the corpus callosum 58 30 Frequent (33%) Frequent (79-30%)
HP:0002079
9 epileptic encephalopathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0200134
10 language impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0002463
11 eeg with spike-wave complexes 58 30 Frequent (33%) Frequent (79-30%)
HP:0010850
12 progressive microcephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000253
13 impaired smooth pursuit 58 30 Frequent (33%) Frequent (79-30%)
HP:0007772
14 delayed ability to sit 58 30 Frequent (33%) Frequent (79-30%)
HP:0025336
15 cavum septum pellucidum 58 30 Frequent (33%) Frequent (79-30%)
HP:0002389
16 dysgyria 58 30 Frequent (33%) Frequent (79-30%)
HP:0032398
17 agyria 58 30 Frequent (33%) Frequent (79-30%)
HP:0031882
18 anterior predominant thick cortex pachygyria 58 30 Frequent (33%) Frequent (79-30%)
HP:0020191
19 dilation of virchow-robin spaces 30 Frequent (33%) HP:0012520
20 axial hypotonia 30 Frequent (33%) HP:0008936
21 developmental regression 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002376
22 neonatal hypotonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001319
23 intellectual disability, mild 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001256
24 polyhydramnios 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001561
25 aspiration pneumonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011951
26 intellectual disability, profound 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002187
27 hypsarrhythmia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002521
28 neonatal hyperbilirubinemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003265
29 focal motor seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011153
30 focal impaired awareness seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002384
31 opisthotonus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002179
32 atonic seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010819
33 atypical absence seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007270
34 eeg with changes in voltage 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011201
35 posterior predominant thick cortex pachygyria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0020189
36 generalized tonic seizure 30 Occasional (7.5%) HP:0010818
37 generalized myoclonic seizure 30 Occasional (7.5%) HP:0002123
38 scoliosis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002650
39 progressive spastic quadriplegia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002478
40 cerebellar vermis hypoplasia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001320
41 seizure 58 30 Very frequent (99-80%)
HP:0001250
42 pachygyria 58 30 Frequent (79-30%)
HP:0001302
43 intellectual disability 30 HP:0001249
44 global developmental delay 30 HP:0001263
45 neurodevelopmental delay 58 Frequent (79-30%)
46 generalized myoclonic seizures 58 Occasional (29-5%)
47 cerebellar hypoplasia 30 HP:0001321
48 spastic tetraparesis 30 HP:0001285
49 abnormal cerebral white matter morphology 30 HP:0002500
50 muscular hypotonia of the trunk 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
cerebellar hypoplasia
pachygyria
agyria
axial hypotonia
subcortical band heterotopia
more
Head And Neck Head:
microcephaly, postnatal

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Clinical features from OMIM®:

607432 (Updated 08-Dec-2022)

Drugs & Therapeutics for Lissencephaly 1

Drugs for Lissencephaly 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
2
Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
3
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 4894 5755
4
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
5
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
6
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5 1875
7
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 4159 6741
8
Tannic acid Approved Phase 1, Phase 2 1401-55-4 16129878 16129778
9
Mycophenolic acid Approved, Investigational Phase 1, Phase 2 24280-93-1 446541
10
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 6473866 445643
11
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7 4897
12
Methylprednisolone Acetate Phase 1, Phase 2 584547
13 Immunosuppressive Agents Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 First in Human Study for the Assessment of Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Immunogenicity of Multiple Ascending Intravenous Doses of LIS1 in Kidney Transplanted Patients Completed NCT04431219 Phase 1, Phase 2

Search NIH Clinical Center for Lissencephaly 1

Genetic Tests for Lissencephaly 1

Genetic tests related to Lissencephaly 1:

# Genetic test Affiliating Genes
1 Lissencephaly Due to Lis1 Mutation 28 PAFAH1B1

Anatomical Context for Lissencephaly 1

Organs/tissues related to Lissencephaly 1:

MalaCards : Cortex, Brain, Lung, Kidney, Olfactory Bulb, Cingulate Cortex, Bone
ODiseA: Brain

Publications for Lissencephaly 1

Articles related to Lissencephaly 1:

(show top 50) (show all 903)
# Title Authors PMID Year
1
Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. 53 62 57 5
9063735 1997
2
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity. 62 57 5
19667223 2009
3
Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. 62 57 5
14581661 2003
4
LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. 62 57 5
11502906 2001
5
Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. 62 57 5
10441340 1999
6
Location and type of mutation in the LIS1 gene do not predict phenotypic severity. 53 62 57
17664403 2007
7
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. 53 62 5
11115846 2000
8
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. 53 62 57
10430413 1999
9
Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders. 62 5
28953922 2017
10
Somatic mutations in cerebral cortical malformations. 62 5
25140959 2014
11
Inhibition of calpain increases LIS1 expression and partially rescues in vivo phenotypes in a mouse model of lissencephaly. 62 57
19734909 2009
12
Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. 62 57
19050731 2009
13
Midbrain-hindbrain involvement in lissencephalies. 62 57
19020296 2009
14
High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis. 62 57
18285425 2008
15
Genotypically defined lissencephalies show distinct pathologies. 62 57
16215456 2005
16
Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different. 62 57
15057976 2004
17
Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia. 62 5
15007136 2004
18
LIS1 missense mutations: variable phenotypes result from unpredictable alterations in biochemical and cellular properties. 62 5
12885786 2003
19
Lissencephaly and the molecular basis of neuronal migration. 62 57
12668601 2003
20
Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. 62 57
12621583 2003
21
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1). 62 57
11754098 2002
22
Targeted mutagenesis of Lis1 disrupts cortical development and LIS1 homodimerization. 62 57
11344260 2001
23
Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes. 62 5
10915612 2000
24
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly. 62 57
9989616 1999
25
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. 62 57
9817918 1998
26
Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality. 62 57
9697693 1998
27
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. 5
32238909 2020
28
Molecular diagnostic experience of whole-exome sequencing in adult patients. 5
26633545 2016
29
Inverted neurons in agyria. A Golgi study of a case with abnormal chromosome 17. 57
3744365 1986
30
Increased LIS1 expression affects human and mouse brain development. 53 62
19136950 2009
31
Deletion of 17p13 and LIS1 gene mutation in isolated lissencephaly sequence. 53 62
16814084 2006
32
Impaired proliferation and migration in human Miller-Dieker neural precursors. 53 62
16642511 2006
33
Expression of DISC1 binding partners is reduced in schizophrenia and associated with DISC1 SNPs. 53 62
16510495 2006
34
Functional genomics in postmortem human brain: abnormalities in a DISC1 molecular pathway in schizophrenia. 53 62
17117617 2006
35
Neuronal migration in developmental disorders. 53 62
15921227 2005
36
Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat. 53 62
14708103 2004
37
A mosaic genetic screen for genes necessary for Drosophila mushroom body neuronal morphogenesis. 53 62
12571111 2003
38
Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders. 53 62
12552055 2003
39
Neuronal migration. 53 62
11429281 2001
40
Cerebral gyral dysplasias: molecular genetics and cell biology. 53 62
11262729 2001
41
Isolated lissencephaly sequence and double-cortex syndrome in a German family with a novel doublecortin mutation. 53 62
11071144 2000
42
Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence. 53 62
10807542 2000
43
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. 53 62
10494089 1999
44
Impaired learning and motor behavior in heterozygous Pafah1b1 (Lis1) mutant mice. 53 62
10541472 1999
45
Characterization and chromosomal mapping of two pseudogenes of the mouse Pafaha/Lis1 gene: retrointegration hotspots in the mouse genome. 53 62
9729401 1998
46
Abnormal cortical development; towards elucidation of the LIS1 gene product function (review). 53 62
9852306 1998
47
LIS2, gene and pseudogene, homologous to LIS1 (lissencephaly 1), located on the short and long arms of chromosome 2. 53 62
8586424 1995
48
Lis1-dynein drives corona compaction and limits erroneous microtubule attachment at kinetochores. 62
36274587 2023
49
Early detection and evolution of hypsarrhythmia in a patient with subcortical band heterotopia 62
36168661 2022
50
Familial posterior predominant subcortical band heterotopia caused by a CEP85L missense mutation. 62
36306705 2022

Variations for Lissencephaly 1

ClinVar genetic disease variations for Lissencephaly 1:

5 (show top 50) (show all 128)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PAFAH1B1 NM_000430.4(PAFAH1B1):c.446A>G (p.His149Arg) SNV Pathogenic
8073 rs121434482 GRCh37: 17:2573503-2573503
GRCh38: 17:2670209-2670209
2 PAFAH1B1 NM_000430.4(PAFAH1B1):c.991_1002+10del DEL Pathogenic
8075 rs1567561137 GRCh37: 17:2579886-2579907
GRCh38: 17:2676592-2676613
3 PAFAH1B1 NM_000430.4(PAFAH1B1):c.505T>C (p.Ser169Pro) SNV Pathogenic
8076 rs121434484 GRCh37: 17:2573562-2573562
GRCh38: 17:2670268-2670268
4 PAFAH1B1 NM_000430.4(PAFAH1B1):c.949G>C (p.Asp317His) SNV Pathogenic
8077 rs121434485 GRCh37: 17:2579847-2579847
GRCh38: 17:2676553-2676553
5 PAFAH1B1 NM_000430.4(PAFAH1B1):c.92T>C (p.Phe31Ser) SNV Pathogenic
8078 rs121434486 GRCh37: 17:2568725-2568725
GRCh38: 17:2665431-2665431
6 PAFAH1B1 NM_000430.4(PAFAH1B1):c.830A>C (p.His277Pro) SNV Pathogenic
8082 rs121434490 GRCh37: 17:2577512-2577512
GRCh38: 17:2674218-2674218
7 PAFAH1B1 NM_000430.4(PAFAH1B1):c.523A>T (p.Lys175Ter) SNV Pathogenic
209180 rs797045061 GRCh37: 17:2573580-2573580
GRCh38: 17:2670286-2670286
8 PAFAH1B1 NM_000430.4(PAFAH1B1):c.177del (p.Arg60fs) DEL Pathogenic
559651 rs1555526309 GRCh37: 17:2569368-2569368
GRCh38: 17:2666074-2666074
9 PAFAH1B1 NM_000430.4(PAFAH1B1):c.852G>A (p.Trp284Ter) SNV Pathogenic
561072 rs1567559851 GRCh37: 17:2577534-2577534
GRCh38: 17:2674240-2674240
10 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1136A>G (p.His379Arg) SNV Pathogenic
1164013 GRCh37: 17:2583591-2583591
GRCh38: 17:2680297-2680297
11 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1083_1084dup (p.Leu362fs) DUP Pathogenic
1334701 GRCh37: 17:2583536-2583537
GRCh38: 17:2680242-2680243
12 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1009C>T (p.His337Tyr) SNV Pathogenic
159489 rs587784236 GRCh37: 17:2583464-2583464
GRCh38: 17:2680170-2680170
13 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1024_1031del (p.Arg342fs) DEL Pathogenic
159490 rs587784237 GRCh37: 17:2583479-2583486
GRCh38: 17:2680185-2680192
14 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1063del (p.Ser355fs) DEL Pathogenic
159491 rs587784238 GRCh37: 17:2583518-2583518
GRCh38: 17:2680224-2680224
15 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1064G>A (p.Ser355Asn) SNV Pathogenic
159492 rs587784239 GRCh37: 17:2583519-2583519
GRCh38: 17:2680225-2680225
16 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1100del (p.Tyr367fs) DEL Pathogenic
159493 rs587784240 GRCh37: 17:2583555-2583555
GRCh38: 17:2680261-2680261
17 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1135C>T (p.His379Tyr) SNV Pathogenic
159495 rs587784242 GRCh37: 17:2583590-2583590
GRCh38: 17:2680296-2680296
18 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1159G>T (p.Asp387Tyr) SNV Pathogenic
159497 rs587784244 GRCh37: 17:2583614-2583614
GRCh38: 17:2680320-2680320
19 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1165C>T (p.His389Tyr) SNV Pathogenic
159498 rs587784245 GRCh37: 17:2585028-2585028
GRCh38: 17:2681734-2681734
20 PAFAH1B1 NM_000430.4(PAFAH1B1):c.484G>A (p.Gly162Ser) SNV Pathogenic
8079 rs121434487 GRCh37: 17:2573541-2573541
GRCh38: 17:2670247-2670247
21 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1002+1G>A SNV Pathogenic
21175 rs113994203 GRCh37: 17:2579901-2579901
GRCh38: 17:2676607-2676607
22 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1050dup (p.Lys351fs) DUP Pathogenic
21177 rs113994200 GRCh37: 17:2583499-2583500
GRCh38: 17:2680205-2680206
23 PAFAH1B1 NM_000430.4(PAFAH1B1):c.162del (p.Lys54fs) DEL Pathogenic
21180 rs113994198 GRCh37: 17:2569347-2569347
GRCh38: 17:2666053-2666053
24 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1002+5G>A SNV Pathogenic
159486 rs587784235 GRCh37: 17:2579905-2579905
GRCh38: 17:2676611-2676611
25 PAFAH1B1 NM_000430.4(PAFAH1B1):c.192+1G>A SNV Pathogenic
159509 rs587784256 GRCh37: 17:2569385-2569385
GRCh38: 17:2666091-2666091
26 PAFAH1B1 NM_000430.4(PAFAH1B1):c.192+1G>T SNV Pathogenic
159510 rs587784256 GRCh37: 17:2569385-2569385
GRCh38: 17:2666091-2666091
27 PAFAH1B1 NM_000430.4(PAFAH1B1):c.192G>C (p.Lys64Asn) SNV Pathogenic
159511 rs587784257 GRCh37: 17:2569384-2569384
GRCh38: 17:2666090-2666090
28 PAFAH1B1 NM_000430.4(PAFAH1B1):c.265C>T (p.Arg89Ter) SNV Pathogenic
159512 rs587784258 GRCh37: 17:2570358-2570358
GRCh38: 17:2667064-2667064
29 PAFAH1B1 NM_000430.4(PAFAH1B1):c.305dup (p.Tyr102Ter) DUP Pathogenic
159513 rs587784259 GRCh37: 17:2570397-2570398
GRCh38: 17:2667103-2667104
30 PAFAH1B1 NM_000430.4(PAFAH1B1):c.33-3C>T SNV Pathogenic
159514 rs587784260 GRCh37: 17:2568663-2568663
GRCh38: 17:2665369-2665369
31 PAFAH1B1 NM_000430.4(PAFAH1B1):c.371T>A (p.Val124Asp) SNV Pathogenic
159515 rs587784261 GRCh37: 17:2570464-2570464
GRCh38: 17:2667170-2667170
32 PAFAH1B1 NM_000430.4(PAFAH1B1):c.37C>T (p.Arg13Ter) SNV Pathogenic
159516 rs587784262 GRCh37: 17:2568670-2568670
GRCh38: 17:2665376-2665376
33 PAFAH1B1 NM_000430.4(PAFAH1B1):c.386A>T (p.Asp129Val) SNV Pathogenic
159517 rs587784263 GRCh37: 17:2570479-2570479
GRCh38: 17:2667185-2667185
34 PAFAH1B1 NM_000430.4(PAFAH1B1):c.399+1G>A SNV Pathogenic
159519 rs587784264 GRCh37: 17:2570493-2570493
GRCh38: 17:2667199-2667199
35 PAFAH1B1 NM_000430.4(PAFAH1B1):c.3G>A (p.Met1Ile) SNV Pathogenic
159520 rs587784265 GRCh37: 17:2541585-2541585
GRCh38: 17:2638291-2638291
36 PAFAH1B1 NM_000430.4(PAFAH1B1):c.405G>A (p.Trp135Ter) SNV Pathogenic
159521 rs587784266 GRCh37: 17:2573462-2573462
GRCh38: 17:2670168-2670168
37 PAFAH1B1 NM_000430.4(PAFAH1B1):c.455_456del (p.Ser152fs) MICROSAT Pathogenic
159523 rs587784268 GRCh37: 17:2573510-2573511
GRCh38: 17:2670216-2670217
38 PAFAH1B1 NM_000430.4(PAFAH1B1):c.460C>T (p.Gln154Ter) SNV Pathogenic
159524 rs587784269 GRCh37: 17:2573517-2573517
GRCh38: 17:2670223-2670223
39 PAFAH1B1 NM_000430.4(PAFAH1B1):c.524_528del (p.Lys175fs) DEL Pathogenic
159526 rs587784270 GRCh37: 17:2573579-2573583
GRCh38: 17:2670285-2670289
40 PAFAH1B1 NM_000430.4(PAFAH1B1):c.537del (p.Gln180fs) DEL Pathogenic
159527 rs587784271 GRCh37: 17:2573591-2573591
GRCh38: 17:2670297-2670297
41 PAFAH1B1 NM_000430.4(PAFAH1B1):c.56T>G (p.Leu19Arg) SNV Pathogenic
159529 rs587784272 GRCh37: 17:2568689-2568689
GRCh38: 17:2665395-2665395
42 PAFAH1B1 NM_000430.4(PAFAH1B1):c.632C>G (p.Ser211Ter) SNV Pathogenic
159530 rs587784273 GRCh37: 17:2576012-2576012
GRCh38: 17:2672718-2672718
43 PAFAH1B1 NM_000430.4(PAFAH1B1):c.644_651del (p.Thr215fs) DEL Pathogenic
159531 rs587784274 GRCh37: 17:2576018-2576025
GRCh38: 17:2672724-2672731
44 PAFAH1B1 NM_000430.4(PAFAH1B1):c.647_648del (p.Ile216fs) MICROSAT Pathogenic
159532 rs587784275 GRCh37: 17:2576025-2576026
GRCh38: 17:2672731-2672732
45 PAFAH1B1 NM_000430.4(PAFAH1B1):c.657G>A (p.Trp219Ter) SNV Pathogenic
159533 rs587784276 GRCh37: 17:2576037-2576037
GRCh38: 17:2672743-2672743
46 PAFAH1B1 NM_000430.4(PAFAH1B1):c.658del (p.Glu220fs) DEL Pathogenic
159534 rs587784277 GRCh37: 17:2576036-2576036
GRCh38: 17:2672742-2672742
47 PAFAH1B1 NM_000430.4(PAFAH1B1):c.664C>T (p.Gln222Ter) SNV Pathogenic
159535 rs587784278 GRCh37: 17:2576044-2576044
GRCh38: 17:2672750-2672750
48 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1233A>C (p.Ter411Cys) SNV Pathogenic
159504 rs587784251 GRCh37: 17:2585096-2585096
GRCh38: 17:2681802-2681802
49 PAFAH1B1 NM_000430.4(PAFAH1B1):c.136_137del (p.Lys46fs) DEL Pathogenic
159505 rs587784252 GRCh37: 17:2569325-2569326
GRCh38: 17:2666031-2666032
50 PAFAH1B1 NM_000430.4(PAFAH1B1):c.152del (p.Leu51fs) DEL Pathogenic
159506 rs587784253 GRCh37: 17:2569341-2569341
GRCh38: 17:2666047-2666047

UniProtKB/Swiss-Prot genetic disease variations for Lissencephaly 1:

73
# Symbol AA change Variation ID SNP ID
1 PAFAH1B1 p.His149Arg VAR_007724 rs121434482
2 PAFAH1B1 p.Ser169Pro VAR_010203 rs121434484
3 PAFAH1B1 p.Phe31Ser VAR_015398 rs121434486
4 PAFAH1B1 p.Gly162Ser VAR_015399 rs121434487
5 PAFAH1B1 p.Asp317His VAR_015400 rs121434485
6 PAFAH1B1 p.Arg241Pro VAR_037300 rs121434488
7 PAFAH1B1 p.His277Pro VAR_037301 rs121434490

Expression for Lissencephaly 1

Search GEO for disease gene expression data for Lissencephaly 1.

Pathways for Lissencephaly 1

GO Terms for Lissencephaly 1

Cellular components related to Lissencephaly 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 10.26 PAFAH1B1 NDEL1 NDE1 FEZ1 DISC1 CLIP1
2 kinetochore GO:0000776 10.06 CLIP1 NDE1 NDEL1 PAFAH1B1
3 cytoskeleton GO:0005856 10.02 WDR47 PAFAH1B1 NDEL1 NDE1 FEZ1 DISC1
4 axon GO:0030424 9.97 WDR47 PAFAH1B1 NDEL1 FEZ1 DISC1
5 ubiquitin ligase complex GO:0000151 9.92 GID8 MKLN1 RANBP9 RMND5A
6 kinesin complex GO:0005871 9.86 PAFAH1B1 NDEL1 NDE1 DISC1
7 microtubule organizing center GO:0005815 9.83 PAFAH1B1 NDEL1 NDE1 FEZ1 DISC1
8 GID complex GO:0034657 9.71 RMND5B RMND5A
9 microtubule associated complex GO:0005875 9.7 RANBP9 PAFAH1B1 NDEL1 DCX
10 microtubule GO:0005874 9.5 WDR47 PAFAH1B1 NDEL1 NDE1 FEZ1 DISC1
11 central region of growth cone GO:0090724 9.43 PAFAH1B1 NDEL1 DISC1

Biological processes related to Lissencephaly 1 according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 10.14 DCX DISC1 FEZ1 NDE1 NDEL1 PAFAH1B1
2 microtubule cytoskeleton organization GO:0000226 10.09 WDR47 PAFAH1B1 NDEL1 DISC1
3 establishment of mitotic spindle orientation GO:0000132 9.97 PAFAH1B1 NDEL1 NDE1
4 positive regulation of axon extension GO:0045773 9.95 PAFAH1B1 NDEL1 DISC1
5 retrograde axonal transport GO:0008090 9.88 PAFAH1B1 NDEL1
6 interneuron migration GO:1904936 9.87 RELN PAFAH1B1
7 reelin-mediated signaling pathway GO:0038026 9.86 RELN PAFAH1B1
8 microtubule nucleation GO:0007020 9.85 RANBP9 NDEL1 NDE1
9 mitotic centrosome separation GO:0007100 9.83 NDEL1 NDE1
10 nuclear membrane disassembly GO:0051081 9.81 PAFAH1B1 NDEL1
11 vesicle transport along microtubule GO:0047496 9.8 PAFAH1B1 NDEL1 NDE1
12 microtubule organizing center organization GO:0031023 9.77 PAFAH1B1 NDE1
13 platelet activating factor metabolic process GO:0046469 9.76 PAFAH1B1 PLA2G7
14 cerebral cortex development GO:0021987 9.76 NDE1 PAFAH1B1 RELN WDR47 YWHAE
15 cerebral cortex radially oriented cell migration GO:0021799 9.75 NDEL1 DISC1
16 radial glia-guided pyramidal neuron migration GO:0140650 9.73 NDEL1 PAFAH1B1
17 establishment of chromosome localization GO:0051303 9.71 NDEL1 NDE1
18 layer formation in cerebral cortex GO:0021819 9.65 RELN PAFAH1B1 DCX
19 hippocampus development GO:0021766 9.61 YWHAE RELN PAFAH1B1 FEZ1 DCX
20 neuron migration GO:0001764 9.44 YWHAE RELN PAFAH1B1 NDEL1 NDE1 DISC1

Molecular functions related to Lissencephaly 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 9.32 PAFAH1B1 NDEL1 NDE1 DCX CLIP1

Sources for Lissencephaly 1

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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