LIS1
MCID: LSS005
MIFTS: 57

Lissencephaly 1 (LIS1)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Lissencephaly 1

MalaCards integrated aliases for Lissencephaly 1:

Name: Lissencephaly 1 57 12 20 72 13
Lis1 57 12 20 43 72
Lissencephaly Due to Lis1 Mutation 58 29 6
Subcortical Laminar Heterotopia 57 72 6
Classic Lissencephaly 20 58 72
Ils 57 20 43
Lissencephaly Sequence, Isolated 57 54
Pafah1b1-Related Lissencephaly 12 58
Subcortical Band Heterotopia 72 70
Classical Lissencephaly 43 70
Lissencephaly, Classic 57 43
Lissencephaly Type 1 43 58
Double Cortex 72 70
Lissencephaly Sequence, Isolated; Ils 57
Lissencephaly Sequence Isolated 20
Isolated Lissencephaly Sequence 43
Lissencephaly Syndrome Type 1 73
Lissencephaly Classic 20
Lissencephaly, Type 1 39
Type 1 Lissencephaly 43
Type I Lissencephaly 70
Lissencephaly-1 72
Sclh 72
Sbh 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
de novo mutation


HPO:

31
lissencephaly 1:
Inheritance autosomal dominant inheritance sporadic
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Lissencephaly 1

MedlinePlus Genetics : 43 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 2. An important gene associated with Lissencephaly 1 is PAFAH1B1 (Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1), and among its related pathways/superpathways are Neuroscience and Cytoskeletal Signaling. The drugs Methylprednisolone and Methylprednisolone hemisuccinate have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and eye, and related phenotypes are infantile spasms and thick cerebral cortex

Disease Ontology : 12 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.

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 or PAFAH1B1, 14-3-3-epsilon (YWHAE), DCX, RELN, and ARX. (607432) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Lissencephaly (meaning "smooth brain") is a set of rare brain disorders where the whole or parts of 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 161)
# Related Disease Score Top Affiliating Genes
1 lissencephaly, x-linked, 1 31.9 PAFAH1B1 DCX
2 lissencephaly 2 31.4 RELN PAFAH1B1
3 band heterotopia 31.1 RELN PAFAH1B1 DCX
4 pachygyria 30.4 PAFAH1B1 DCX
5 chromosome 17p13.3, centromeric, duplication syndrome 29.8 PAFAH1B1 DCX
6 neuronal migration disorders 29.7 RELN PAFAH1B1 DCX
7 lissencephaly 29.7 RELN PLA2G7 PAFAH1B1 GID8 DCX
8 periventricular nodular heterotopia 29.6 RELN PAFAH1B1 DCX
9 schizophrenia 1 29.6 PAFAH1B1 FEZ1 DISC1
10 lissencephaly with cerebellar hypoplasia 29.4 RELN PAFAH1B1 DCX
11 cerebellar hypoplasia 29.4 PAFAH1B1 DCX RELN
12 miller-dieker lissencephaly syndrome 28.8 RELN PAFAH1B1 DISC1 DCX
13 cortical dysplasia, complex, with other brain malformations 3 11.3
14 cortical dysplasia, complex, with other brain malformations 4 11.3
15 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 11.3
16 isolated lissencephaly type 1 without known genetic defects 11.1
17 lissencephaly 4 10.9
18 lissencephaly 10 10.9
19 lissencephaly, x-linked, 2 10.9
20 lissencephaly 5 10.9
21 lissencephaly 6 with microcephaly 10.9
22 lissencephaly 7 with cerebellar hypoplasia 10.9
23 lissencephaly 8 10.9
24 lissencephaly 9 with complex brainstem malformation 10.9
25 hypertelorism 10.2
26 febrile seizures 10.2
27 periventricular nodular heterotopia 1 10.1
28 status epilepticus 10.1
29 dcx-related disorders 10.1
30 coloboma of macula 10.1
31 chromosome 2q35 duplication syndrome 10.1
32 phenylketonuria 10.1
33 hypomelanosis of ito 10.1
34 lowe oculocerebrorenal syndrome 10.1
35 cyanosis, transient neonatal 10.1
36 aspiration pneumonia 10.1
37 asperger syndrome 10.1
38 baraitser-winter syndrome 10.1
39 ptosis 10.1
40 hypothyroidism 10.1
41 constipation 10.1
42 iron metabolism disease 10.1
43 dysgraphia 10.1
44 pulmonary valve stenosis 10.1
45 alopecia 10.1
46 hypermobile ehlers-danlos syndrome 10.1
47 coloboma of iris 10.1
48 dysphagia 10.1
49 spasticity 10.1
50 partial trisomy/tetrasomy of the short arm of chromosome 9 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 31 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 infantile spasms 58 31 hallmark (90%) Very frequent (99-80%) HP:0012469
2 thick cerebral cortex 58 31 hallmark (90%) Very frequent (99-80%) HP:0006891
3 tetraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0002445
4 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
5 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
6 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
7 poor head control 58 31 frequent (33%) Frequent (79-30%) HP:0002421
8 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
9 muscular hypotonia of the trunk 58 31 frequent (33%) Frequent (79-30%) HP:0008936
10 epileptic encephalopathy 58 31 frequent (33%) Frequent (79-30%) HP:0200134
11 language impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002463
12 eeg with spike-wave complexes 58 31 frequent (33%) Frequent (79-30%) HP:0010850
13 progressive microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000253
14 impaired smooth pursuit 58 31 frequent (33%) Frequent (79-30%) HP:0007772
15 perivascular spaces 58 31 frequent (33%) Frequent (79-30%) HP:0012520
16 delayed ability to sit 58 31 frequent (33%) Frequent (79-30%) HP:0025336
17 cavum septum pellucidum 58 31 frequent (33%) Frequent (79-30%) HP:0002389
18 dysgyria 58 31 frequent (33%) Frequent (79-30%) HP:0032398
19 agyria 58 31 frequent (33%) Frequent (79-30%) HP:0031882
20 anterior predominant thick cortex pachygyria 58 31 frequent (33%) Frequent (79-30%) HP:0020191
21 developmental regression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002376
22 neonatal hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001319
23 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
24 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
25 focal impaired awareness seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002384
26 intellectual disability, profound 58 31 occasional (7.5%) Occasional (29-5%) HP:0002187
27 aspiration pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011951
28 hypsarrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002521
29 neonatal hyperbilirubinemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003265
30 focal motor seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0011153
31 opisthotonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002179
32 atonic seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0010819
33 atypical absence seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0007270
34 eeg with changes in voltage 58 31 occasional (7.5%) Occasional (29-5%) HP:0011201
35 posterior predominant thick cortex pachygyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0020189
36 generalized tonic seizure 31 occasional (7.5%) HP:0010818
37 generalized myoclonic seizure 31 occasional (7.5%) HP:0002123
38 scoliosis 58 31 very rare (1%) Very rare (<4-1%) HP:0002650
39 progressive spastic quadriplegia 58 31 very rare (1%) Very rare (<4-1%) HP:0002478
40 cerebellar vermis hypoplasia 58 31 very rare (1%) Very rare (<4-1%) HP:0001320
41 pachygyria 58 31 Frequent (79-30%) HP:0001302
42 intellectual disability 31 HP:0001249
43 seizures 58 Very frequent (99-80%)
44 global developmental delay 31 HP:0001263
45 neurodevelopmental delay 58 Frequent (79-30%)
46 generalized myoclonic seizures 58 Occasional (29-5%)
47 cerebellar hypoplasia 31 HP:0001321
48 spastic tetraparesis 31 HP:0001285
49 postnatal microcephaly 31 HP:0005484
50 abnormality of the cerebral white matter 31 HP:0002500

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
cerebellar hypoplasia
pachygyria
agyria
subcortical band heterotopia
enlarged ventricles
more
Head And Neck Head:
microcephaly, postnatal

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Clinical features from OMIM®:

607432 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Lissencephaly 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.17 BICD1 DCX DISC1 FEZ1 PAFAH1B1 PLA2G7

Drugs & Therapeutics for Lissencephaly 1

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
2
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
3
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
4
Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
5
Mycophenolic acid Approved Phase 1, Phase 2 24280-93-1 446541
6
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492 6473866
7
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
8
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
9
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
10 Immunosuppressive Agents Phase 1, Phase 2
11 Methylprednisolone Acetate 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 Recruiting 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 29

Anatomical Context for Lissencephaly 1

MalaCards organs/tissues related to Lissencephaly 1:

40
Brain, Cortex, Eye, Liver, Myeloid, Thyroid, Bone

Publications for Lissencephaly 1

Articles related to Lissencephaly 1:

(show top 50) (show all 573)
# 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. 61 54 6 57
9063735 1997
2
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity. 61 6 57
19667223 2009
3
Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. 57 6 61
14581661 2003
4
LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. 61 6 57
11502906 2001
5
Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. 61 6 57
10441340 1999
6
Location and type of mutation in the LIS1 gene do not predict phenotypic severity. 54 57 61
17664403 2007
7
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. 54 6 61
11115846 2000
8
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. 54 61 57
10430413 1999
9
Inhibition of calpain increases LIS1 expression and partially rescues in vivo phenotypes in a mouse model of lissencephaly. 57 61
19734909 2009
10
Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. 61 57
19050731 2009
11
Midbrain-hindbrain involvement in lissencephalies. 57 61
19020296 2009
12
High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis. 61 57
18285425 2008
13
Genotypically defined lissencephalies show distinct pathologies. 61 57
16215456 2005
14
Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different. 61 57
15057976 2004
15
Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia. 61 6
15007136 2004
16
LIS1 missense mutations: variable phenotypes result from unpredictable alterations in biochemical and cellular properties. 6 61
12885786 2003
17
Lissencephaly and the molecular basis of neuronal migration. 57 61
12668601 2003
18
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. 57 61
12621583 2003
19
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1). 61 57
11754098 2002
20
Targeted mutagenesis of Lis1 disrupts cortical development and LIS1 homodimerization. 61 57
11344260 2001
21
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly. 61 57
9989616 1999
22
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. 57 61
9817918 1998
23
Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality. 57 61
9697693 1998
24
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. 6
32238909 2020
25
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
26
Inverted neurons in agyria. A Golgi study of a case with abnormal chromosome 17. 57
3744365 1986
27
Increased LIS1 expression affects human and mouse brain development. 61 54
19136950 2009
28
Impaired proliferation and migration in human Miller-Dieker neural precursors. 61 54
16642511 2006
29
Deletion of 17p13 and LIS1 gene mutation in isolated lissencephaly sequence. 61 54
16814084 2006
30
Expression of DISC1 binding partners is reduced in schizophrenia and associated with DISC1 SNPs. 61 54
16510495 2006
31
Functional genomics in postmortem human brain: abnormalities in a DISC1 molecular pathway in schizophrenia. 61 54
17117617 2006
32
Neuronal migration in developmental disorders. 61 54
15921227 2005
33
Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat. 61 54
14708103 2004
34
A mosaic genetic screen for genes necessary for Drosophila mushroom body neuronal morphogenesis. 54 61
12571111 2003
35
Neuronal migration. 61 54
11429281 2001
36
Cerebral gyral dysplasias: molecular genetics and cell biology. 61 54
11262729 2001
37
Impaired learning and motor behavior in heterozygous Pafah1b1 (Lis1) mutant mice. 54 61
10541472 1999
38
Characterization and chromosomal mapping of two pseudogenes of the mouse Pafaha/Lis1 gene: retrointegration hotspots in the mouse genome. 61 54
9729401 1998
39
Abnormal cortical development; towards elucidation of the LIS1 gene product function (review). 61 54
9852306 1998
40
LIS2, gene and pseudogene, homologous to LIS1 (lissencephaly 1), located on the short and long arms of chromosome 2. 61 54
8586424 1995
41
Human cytomegalovirus infection is associated with increased expression of the lissencephaly gene PAFAH1B1 encoding LIS1 in neural stem cells and congenitally infected brains. 61
33565082 2021
42
Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects. 61
33453472 2021
43
Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain. 61
33738444 2021
44
N-Acetyl-D-Glucosamine Kinase Interacts with NudC and Lis1 in Dynein Motor Complex and Promotes Cell Migration. 61
33374456 2020
45
Aesculetin Inhibits Osteoclastic Bone Resorption through Blocking Ruffled Border Formation and Lysosomal Trafficking. 61
33203061 2020
46
Clinicopathologic features of breast cancer reclassified as HER2-amplified by fluorescence in situ hybridization with alternative chromosome 17 probes. 61
32805517 2020
47
[Microlissencephaly due to pathogenic variants of NDE1: from pathology to normal brain development]. 61
33026328 2020
48
Arsenic trioxide disturbs the LIS1/NDEL1/dynein microtubule dynamic complex by disrupting the CLIP170 zinc finger in head and neck cancer. 61
32717241 2020
49
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations. 61
32570172 2020
50
NudCL2 regulates cell migration by stabilizing both myosin-9 and LIS1 with Hsp90. 61
32665550 2020

Variations for Lissencephaly 1

ClinVar genetic disease variations for Lissencephaly 1:

6 (show top 50) (show all 119)
# 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.817C>T (p.Arg273Ter) SNV Pathogenic 8074 rs121434483 GRCh37: 17:2577499-2577499
GRCh38: 17:2674205-2674205
3 PAFAH1B1 NM_000430.4(PAFAH1B1):c.991_1002+10del Deletion Pathogenic 8075 rs1567561137 GRCh37: 17:2579886-2579907
GRCh38: 17:2676592-2676613
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.1002+1G>A SNV Pathogenic 21175 rs113994203 GRCh37: 17:2579901-2579901
GRCh38: 17:2676607-2676607
8 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1050del (p.Lys351fs) Deletion Pathogenic 21176 rs113994200 GRCh37: 17:2583500-2583500
GRCh38: 17:2680206-2680206
9 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1050dup (p.Lys351fs) Duplication Pathogenic 21177 rs113994200 GRCh37: 17:2583499-2583500
GRCh38: 17:2680205-2680206
10 PAFAH1B1 NM_000430.4(PAFAH1B1):c.162del (p.Lys54fs) Deletion Pathogenic 21180 rs113994198 GRCh37: 17:2569347-2569347
GRCh38: 17:2666053-2666053
11 PAFAH1B1 NM_000430.4(PAFAH1B1):c.569-10T>C SNV Pathogenic 21182 rs113994202 GRCh37: 17:2575939-2575939
GRCh38: 17:2672645-2672645
12 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1002+5G>A SNV Pathogenic 159486 rs587784235 GRCh37: 17:2579905-2579905
GRCh38: 17:2676611-2676611
13 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1009C>T (p.His337Tyr) SNV Pathogenic 159489 rs587784236 GRCh37: 17:2583464-2583464
GRCh38: 17:2680170-2680170
14 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1024_1031del (p.Arg342fs) Deletion Pathogenic 159490 rs587784237 GRCh37: 17:2583479-2583486
GRCh38: 17:2680185-2680192
15 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1063del (p.Ser355fs) Deletion Pathogenic 159491 rs587784238 GRCh37: 17:2583518-2583518
GRCh38: 17:2680224-2680224
16 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1064G>A (p.Ser355Asn) SNV Pathogenic 159492 rs587784239 GRCh37: 17:2583519-2583519
GRCh38: 17:2680225-2680225
17 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1100del (p.Tyr367fs) Deletion Pathogenic 159493 rs587784240 GRCh37: 17:2583555-2583555
GRCh38: 17:2680261-2680261
18 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1111C>T (p.Arg371Ter) SNV Pathogenic 159494 rs587784241 GRCh37: 17:2583566-2583566
GRCh38: 17:2680272-2680272
19 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1135C>T (p.His379Tyr) SNV Pathogenic 159495 rs587784242 GRCh37: 17:2583590-2583590
GRCh38: 17:2680296-2680296
20 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1159+2T>A SNV Pathogenic 159496 rs587784243 GRCh37: 17:2583616-2583616
GRCh38: 17:2680322-2680322
21 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1159G>T (p.Asp387Tyr) SNV Pathogenic 159497 rs587784244 GRCh37: 17:2583614-2583614
GRCh38: 17:2680320-2680320
22 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1165C>T (p.His389Tyr) SNV Pathogenic 159498 rs587784245 GRCh37: 17:2585028-2585028
GRCh38: 17:2681734-2681734
23 PAFAH1B1 NM_000430.4(PAFAH1B1):c.192+1G>A SNV Pathogenic 159509 rs587784256 GRCh37: 17:2569385-2569385
GRCh38: 17:2666091-2666091
24 PAFAH1B1 NM_000430.4(PAFAH1B1):c.192+1G>T SNV Pathogenic 159510 rs587784256 GRCh37: 17:2569385-2569385
GRCh38: 17:2666091-2666091
25 PAFAH1B1 NM_000430.4(PAFAH1B1):c.192G>C (p.Lys64Asn) SNV Pathogenic 159511 rs587784257 GRCh37: 17:2569384-2569384
GRCh38: 17:2666090-2666090
26 PAFAH1B1 NM_000430.4(PAFAH1B1):c.265C>T (p.Arg89Ter) SNV Pathogenic 159512 rs587784258 GRCh37: 17:2570358-2570358
GRCh38: 17:2667064-2667064
27 PAFAH1B1 NM_000430.4(PAFAH1B1):c.305dup (p.Tyr102Ter) Duplication Pathogenic 159513 rs587784259 GRCh37: 17:2570397-2570398
GRCh38: 17:2667103-2667104
28 PAFAH1B1 NM_000430.4(PAFAH1B1):c.33-3C>T SNV Pathogenic 159514 rs587784260 GRCh37: 17:2568663-2568663
GRCh38: 17:2665369-2665369
29 PAFAH1B1 NM_000430.4(PAFAH1B1):c.371T>A (p.Val124Asp) SNV Pathogenic 159515 rs587784261 GRCh37: 17:2570464-2570464
GRCh38: 17:2667170-2667170
30 PAFAH1B1 NM_000430.4(PAFAH1B1):c.37C>T (p.Arg13Ter) SNV Pathogenic 159516 rs587784262 GRCh37: 17:2568670-2568670
GRCh38: 17:2665376-2665376
31 PAFAH1B1 NM_000430.4(PAFAH1B1):c.386A>T (p.Asp129Val) SNV Pathogenic 159517 rs587784263 GRCh37: 17:2570479-2570479
GRCh38: 17:2667185-2667185
32 PAFAH1B1 NM_000430.4(PAFAH1B1):c.399+1G>A SNV Pathogenic 159519 rs587784264 GRCh37: 17:2570493-2570493
GRCh38: 17:2667199-2667199
33 PAFAH1B1 NM_000430.4(PAFAH1B1):c.3G>A (p.Met1Ile) SNV Pathogenic 159520 rs587784265 GRCh37: 17:2541585-2541585
GRCh38: 17:2638291-2638291
34 PAFAH1B1 NM_000430.4(PAFAH1B1):c.405G>A (p.Trp135Ter) SNV Pathogenic 159521 rs587784266 GRCh37: 17:2573462-2573462
GRCh38: 17:2670168-2670168
35 PAFAH1B1 NM_000430.4(PAFAH1B1):c.430C>T (p.Arg144Ter) SNV Pathogenic 159522 rs587784267 GRCh37: 17:2573487-2573487
GRCh38: 17:2670193-2670193
36 PAFAH1B1 NM_000430.4(PAFAH1B1):c.453_454CT[1] (p.Ser152fs) Microsatellite Pathogenic 159523 rs587784268 GRCh37: 17:2573510-2573511
GRCh38: 17:2670216-2670217
37 PAFAH1B1 NM_000430.4(PAFAH1B1):c.460C>T (p.Gln154Ter) SNV Pathogenic 159524 rs587784269 GRCh37: 17:2573517-2573517
GRCh38: 17:2670223-2670223
38 PAFAH1B1 NM_000430.4(PAFAH1B1):c.524_528del (p.Lys175fs) Deletion Pathogenic 159526 rs587784270 GRCh37: 17:2573579-2573583
GRCh38: 17:2670285-2670289
39 PAFAH1B1 NM_000430.4(PAFAH1B1):c.537del (p.Gln180fs) Deletion Pathogenic 159527 rs587784271 GRCh37: 17:2573591-2573591
GRCh38: 17:2670297-2670297
40 PAFAH1B1 NM_000430.4(PAFAH1B1):c.56T>G (p.Leu19Arg) SNV Pathogenic 159529 rs587784272 GRCh37: 17:2568689-2568689
GRCh38: 17:2665395-2665395
41 PAFAH1B1 NM_000430.4(PAFAH1B1):c.632C>G (p.Ser211Ter) SNV Pathogenic 159530 rs587784273 GRCh37: 17:2576012-2576012
GRCh38: 17:2672718-2672718
42 PAFAH1B1 NM_000430.4(PAFAH1B1):c.644_651del (p.Thr215fs) Deletion Pathogenic 159531 rs587784274 GRCh37: 17:2576018-2576025
GRCh38: 17:2672724-2672731
43 PAFAH1B1 NM_000430.4(PAFAH1B1):c.645_646TA[1] (p.Ile216fs) Microsatellite Pathogenic 159532 rs587784275 GRCh37: 17:2576025-2576026
GRCh38: 17:2672731-2672732
44 PAFAH1B1 NM_000430.4(PAFAH1B1):c.657G>A (p.Trp219Ter) SNV Pathogenic 159533 rs587784276 GRCh37: 17:2576037-2576037
GRCh38: 17:2672743-2672743
45 PAFAH1B1 NM_000430.4(PAFAH1B1):c.658del (p.Glu220fs) Deletion Pathogenic 159534 rs587784277 GRCh37: 17:2576036-2576036
GRCh38: 17:2672742-2672742
46 PAFAH1B1 NM_000430.4(PAFAH1B1):c.664C>T (p.Gln222Ter) SNV Pathogenic 159535 rs587784278 GRCh37: 17:2576044-2576044
GRCh38: 17:2672750-2672750
47 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1233A>C (p.Ter411Cys) SNV Pathogenic 159504 rs587784251 GRCh37: 17:2585096-2585096
GRCh38: 17:2681802-2681802
48 PAFAH1B1 NM_000430.4(PAFAH1B1):c.136_137del (p.Lys46fs) Deletion Pathogenic 159505 rs587784252 GRCh37: 17:2569325-2569326
GRCh38: 17:2666031-2666032
49 PAFAH1B1 NM_000430.4(PAFAH1B1):c.152del (p.Leu51fs) Deletion Pathogenic 159506 rs587784253 GRCh37: 17:2569341-2569341
GRCh38: 17:2666047-2666047
50 PAFAH1B1 NM_000430.4(PAFAH1B1):c.163T>A (p.Trp55Arg) SNV Pathogenic 159507 rs587784254 GRCh37: 17:2569355-2569355
GRCh38: 17:2666061-2666061

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

72
# 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

Pathways related to Lissencephaly 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.03 PAFAH1B1 FEZ1 DCX
2 11.92 PAFAH1B1 FEZ1 DCX
3 10.62 RELN PAFAH1B1
4 10.42 RELN PLA2G7 PAFAH1B1 DCX
5 10.4 PAFAH1B1 BICD1

GO Terms for Lissencephaly 1

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

# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.65 RELN PAFAH1B1 DCX
2 cytoskeleton GO:0005856 9.65 PAFAH1B1 FEZ1 DISC1 DCX BICD1
3 axon GO:0030424 9.63 PAFAH1B1 FEZ1 DISC1
4 microtubule organizing center GO:0005815 9.61 PAFAH1B1 FEZ1 DISC1
5 centrosome GO:0005813 9.46 PAFAH1B1 FEZ1 DISC1 BICD1
6 cytoplasmic microtubule GO:0005881 9.4 PAFAH1B1 BICD1
7 kinesin complex GO:0005871 9.37 PAFAH1B1 DISC1
8 microtubule associated complex GO:0005875 9.32 PAFAH1B1 DCX
9 microtubule GO:0005874 9.26 PAFAH1B1 FEZ1 DISC1 DCX
10 central region of growth cone GO:0090724 8.62 PAFAH1B1 DISC1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.83 RELN PAFAH1B1 DISC1 DCX
2 nervous system development GO:0007399 9.71 PAFAH1B1 FEZ1 DISC1 DCX
3 brain development GO:0007420 9.67 RELN PAFAH1B1 DCX
4 positive regulation of neuron projection development GO:0010976 9.54 RELN FEZ1 DISC1
5 cerebral cortex development GO:0021987 9.51 RELN PAFAH1B1
6 positive regulation of axon extension GO:0045773 9.48 PAFAH1B1 DISC1
7 regulation of microtubule cytoskeleton organization GO:0070507 9.46 PAFAH1B1 BICD1
8 neuron migration GO:0001764 9.46 RELN PAFAH1B1 DISC1 DCX
9 positive regulation of dendritic spine morphogenesis GO:0061003 9.43 RELN PAFAH1B1
10 reelin-mediated signaling pathway GO:0038026 9.32 RELN PAFAH1B1
11 platelet activating factor metabolic process GO:0046469 9.26 PLA2G7 PAFAH1B1
12 layer formation in cerebral cortex GO:0021819 9.13 RELN PAFAH1B1 DCX
13 hippocampus development GO:0021766 8.92 RELN PAFAH1B1 FEZ1 DCX

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

# Name GO ID Score Top Affiliating Genes
1 dynein intermediate chain binding GO:0045505 9.16 PAFAH1B1 BICD1
2 dynein complex binding GO:0070840 8.96 PAFAH1B1 BICD1
3 dynactin binding GO:0034452 8.62 PAFAH1B1 BICD1

Sources for Lissencephaly 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....