SBH
MCID: LSS005
MIFTS: 53

Lissencephaly 1 (SBH)

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

Aliases & Classifications for Lissencephaly 1

MalaCards integrated aliases for Lissencephaly 1:

Name: Lissencephaly 1 58 54 76 30 13 6
Lis1 58 54 26 76
Ils 58 54 26
Lissencephaly Sequence, Isolated 58 56
Subcortical Laminar Heterotopia 58 76
Subcortical Band Heterotopia 76 74
Classical Lissencephaly 26 74
Lissencephaly, Classic 58 26
Classic Lissencephaly 54 76
Double Cortex 76 74
Lissencephaly Sequence, Isolated; Ils 58
Lissencephaly Due to Lis1 Mutation 60
Lissencephaly Sequence Isolated 54
Isolated Lissencephaly Sequence 26
Pafah1b1-Related Lissencephaly 60
Lissencephaly Syndrome Type 1 77
Lissencephaly Classic 54
Lissencephaly, Type 1 41
Lissencephaly Type 1 26
Type 1 Lissencephaly 26
Type I Lissencephaly 74
Lissencephaly-1 76
Sclh 76
Sbh 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
de novo mutation


HPO:

33
lissencephaly 1:
Onset and clinical course variable expressivity
Inheritance sporadic


Classifications:



Summaries for Lissencephaly 1

OMIM : 58 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)

MalaCards based summary : Lissencephaly 1, also known as lis1, is related to band heterotopia and lissencephaly, x-linked, 1. 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. Affiliated tissues include brain, cortex and t cells, and related phenotypes are intellectual disability and seizures

Genetics Home Reference : 26 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.

UniProtKB/Swiss-Prot : 76 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 : 77 Lissencephaly is a set of rare brain disorders where the whole or parts of the surface of the brain... more...

Related Diseases for Lissencephaly 1

Diseases in the Lissencephaly family:

Lissencephaly 2 Lissencephaly 1
Lissencephaly 3 Lissencephaly 4
Lissencephaly 5 Lissencephaly 8

Diseases related to Lissencephaly 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 465)
# Related Disease Score Top Affiliating Genes
1 band heterotopia 31.9 DCX PAFAH1B1 RELN
2 lissencephaly, x-linked, 1 30.4 DCX PAFAH1B1
3 periventricular nodular heterotopia 29.8 DCX PAFAH1B1 RELN
4 lissencephaly 29.7 DCX GID8 PAFAH1B1 RELN
5 schizophrenia 28.7 DISC1 FEZ1 PAFAH1B1 RELN
6 pafah1b1-associated lissencephaly/subcortical band heterotopia 12.6
7 congenital disorder of glycosylation, type il 12.5
8 isolated lissencephaly type 1 without known genetic defects 12.1
9 miller-dieker lissencephaly syndrome 11.7
10 chromosome 17p13.1 deletion syndrome 11.5
11 cortical dysplasia, complex, with other brain malformations 3 11.4
12 cortical dysplasia, complex, with other brain malformations 4 11.4
13 x-linked lissencephaly with abnormal genitalia 11.2
14 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 11.1
15 lissencephaly 2 11.1
16 lissencephaly, x-linked, 2 11.0
17 lissencephaly 4 11.0
18 lissencephaly 5 11.0
19 lissencephaly 6 with microcephaly 11.0
20 lissencephaly 7 with cerebellar hypoplasia 11.0
21 lissencephaly 8 11.0
22 lissencephaly 9 with complex brainstem malformation 11.0
23 arthritis 10.2
24 rheumatoid arthritis 10.2
25 chromosome 17p13.3, centromeric, duplication syndrome 10.1 DCX PAFAH1B1
26 leukemia 10.1
27 pachygyria 10.1
28 glioblastoma 10.1
29 breast cancer 10.1
30 asthma 10.1
31 chromosome 2q35 duplication syndrome 10.1
32 baraitser-winter syndrome 10.1
33 adenocarcinoma 10.1
34 pelger-huet anomaly 10.0
35 platelet-activating factor acetylhydrolase deficiency 10.0 PAFAH1B1 PLA2G7
36 hepatitis 10.0
37 pancreas adenocarcinoma 10.0
38 hepatocellular carcinoma 10.0
39 autism 10.0
40 leukemia, acute myeloid 10.0
41 bipolar disorder 10.0
42 male infertility 10.0
43 familial adenomatous polyposis 10.0
44 epilepsy 10.0
45 infertility 10.0
46 myeloid leukemia 10.0
47 alzheimer disease 10.0
48 systemic lupus erythematosus 10.0
49 lung cancer 10.0
50 osteoarthritis 10.0

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:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 seizures 33 HP:0001250
3 global developmental delay 33 HP:0001263
4 ventriculomegaly 33 HP:0002119
5 cerebellar hypoplasia 33 HP:0001321
6 pachygyria 33 HP:0001302
7 spastic tetraparesis 33 HP:0001285
8 postnatal microcephaly 33 HP:0005484
9 muscular hypotonia of the trunk 33 HP:0008936
10 abnormality of the cerebral white matter 33 HP:0002500
11 perivascular spaces 33 HP:0012520
12 hypoplasia of the brainstem 33 HP:0002365
13 agyria 33 HP:0031882
14 gray matter heterotopia 33 HP:0002282

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
cerebellar hypoplasia
pachygyria
enlarged ventricles
mental retardation
seizures, refractory
more
Head And Neck Head:
microcephaly, postnatal

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Clinical features from OMIM:

607432

MGI Mouse Phenotypes related to Lissencephaly 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.1 BICD1 DCX DISC1 FEZ1 PAFAH1B1 RELN

Drugs & Therapeutics for Lissencephaly 1

Search Clinical Trials , NIH Clinical Center for Lissencephaly 1

Genetic Tests for Lissencephaly 1

Genetic tests related to Lissencephaly 1:

# Genetic test Affiliating Genes
1 Lissencephaly 1 30 PAFAH1B1

Anatomical Context for Lissencephaly 1

MalaCards organs/tissues related to Lissencephaly 1:

42
Brain, Cortex, T Cells, Lung, Liver, B Cells, Bone

Publications for Lissencephaly 1

Articles related to Lissencephaly 1:

(show top 50) (show all 225)
# Title Authors Year
1
Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation. ( 30144370 )
2018
2
1H, 13C and 15N chemical shift assignment of lissencephaly-1 homology (LisH) domain homodimer of human two-hybrid-associated protein 1 with RanBPM (Twa1). ( 29067546 )
2018
3
Hepatic loss of Lissencephaly 1 (Lis1) induces fatty liver and accelerates liver tumorigenesis in mice. ( 29475944 )
2018
4
NudCD1 affects renal cell carcinoma through regulating LIS1/Dynein signaling pathway. ( 29511446 )
2018
5
Mature Hippocampal Neurons Require LIS1 for Synaptic Integrity: Implications for Cognition. ( 29150182 )
2018
6
An Essential Postdevelopmental Role for Lis1 in Mice. ( 29404402 )
2018
7
Lis1 dysfunction leads to traction force reduction and cytoskeletal disorganization during cell migration. ( 29470990 )
2018
8
The LIS1/NDE1 Complex Is Essential for FGF Signaling by Regulating FGF Receptor Intracellular Trafficking. ( 29562183 )
2018
9
LINC complex-Lis1 interplay controls MT1-MMP matrix digest-on-demand response for confined tumor cell migration. ( 29934494 )
2018
10
A novel recurrent LIS1 splice site mutation in classic lissencephaly. ( 27891766 )
2017
11
Lissencephaly-1 is a context-dependent regulator of the human dynein complex. ( 28406398 )
2017
12
Differential effects of the dynein-regulatory factor Lissencephaly-1 on processive dynein-dynactin motility. ( 28576829 )
2017
13
Preferential Association of Lissencephaly-1 Gene Expression with CD133+ Glioblastoma Cells. ( 28607604 )
2017
14
Lissencephaly-1 dependent axonal retrograde transport of L1-type CAM Neuroglian in the adult drosophila central nervous system. ( 28837701 )
2017
15
The functional polymorphisms of LIS1 are associated with acute myeloid leukemia risk in a Han Chinese population. ( 28076835 )
2017
16
Lis1 Regulates Germinal Center B Cell Antigen Acquisition and Affinity Maturation. ( 28446568 )
2017
17
Developmental downregulation of LIS1 expression limits axonal extension and allows axon pruning. ( 28630356 )
2017
18
Lis1 Has Two Opposing Modes of Regulating Cytoplasmic Dynein. ( 28886386 )
2017
19
LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs. ( 26494205 )
2016
20
Reducing Lissencephaly-1 levels augments mitochondrial transport and has a protective effect in adult Drosophila neurons. ( 26598558 )
2016
21
The Microtubule-Associated Protein Lis1 Regulates T Lymphocyte Homeostasis and Differentiation. ( 27029586 )
2016
22
Load-induced enhancement of Dynein force production by LIS1-NudE in vivo and in vitro. ( 27489054 )
2016
23
N-Acetyl-D-Glucosamine Kinase Interacts with Dynein-Lis1-NudE1 Complex and Regulates Cell Division. ( 27646688 )
2016
24
LIS1 Regulates Osteoclastogenesis through Modulation of M-SCF and RANKL Signaling Pathways and CDC42. ( 27994513 )
2016
25
A de novo microdeletion involving PAFAH1B (LIS1) related to lissencephaly phenotype. ( 26958590 )
2015
26
DBZ regulates cortical cell positioning and neurite development by sustaining the anterograde transport of Lis1 and DISC1 through control of Ndel1 dual-phosphorylation. ( 25698733 )
2015
27
Stress-Induced CDK5 Activation Disrupts Axonal Transport via Lis1/Ndel1/Dynein. ( 26166569 )
2015
28
Two microtubule-plus-end binding proteins LIS1-1 and LIS1-2, homologues of human LIS1 in Neurospora crassa. ( 26231681 )
2015
29
Lis1 restricts the conformational changes in cytoplasmic dynein on microtubules. ( 26371280 )
2015
30
The dynein cortical anchor Num1 activates dynein motility by relieving Pac1/LIS1-mediated inhibition. ( 26483554 )
2015
31
LIS1 controls mitosis and mitotic spindle organization via the LIS1-NDEL1-dynein complex. ( 24030547 )
2014
32
Lis1 regulates asymmetric division in hematopoietic stem cells and in leukemia. ( 24487275 )
2014
33
miRNA expression analysis in cortical dysplasia: regulation of mTOR and LIS1 pathway. ( 24560344 )
2014
34
Stem cell fate regulation by dynein motor protein Lis1. ( 24569235 )
2014
35
miR-139-5p modulates cortical neuronal migration by targeting Lis1 in a rat model of focal cortical dysplasia. ( 24647639 )
2014
36
Lis1 is required for the expansion of hematopoietic stem cells in the fetal liver. ( 24853954 )
2014
37
Lis1 regulates dynein by sterically blocking its mechanochemical cycle. ( 25380312 )
2014
38
A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly. ( 23633430 )
2013
39
Lissencephaly-1 promotes the recruitment of dynein and dynactin to transported mRNAs. ( 23918939 )
2013
40
Nudel/NudE and Lis1 promote dynein and dynactin interaction in the context of spindle morphogenesis. ( 24025714 )
2013
41
LIS1 and DCX: Implications for Brain Development and Human Disease in Relation to Microtubules. ( 24278775 )
2013
42
ALLN rescues an in vitro excitatory synaptic transmission deficit in Lis1 mutant mice. ( 23100132 )
2013
43
Lis1 controls dynamics of neuronal filopodia and spines to impact synaptogenesis and social behaviour. ( 23483716 )
2013
44
Lis1 mediates planar polarity of auditory hair cells through regulation of microtubule organization. ( 23533177 )
2013
45
Distinct functions of nuclear distribution proteins LIS1, Ndel1 and NudCL in regulating axonal mitochondrial transport. ( 23551859 )
2013
46
Spatially dependent dynamic MAPK modulation by the Nde1-Lis1-Brap complex patterns mammalian CNS. ( 23673330 )
2013
47
Rab6a releases LIS1 from a dynein idling complex and activates dynein for retrograde movement. ( 23783758 )
2013
48
LIS1 functions in normal development and disease. ( 23973156 )
2013
49
Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary. ( 22408144 )
2012
50
A Lissencephaly-1 homologue is essential for mitotic progression in the planarian Schmidtea mediterranea. ( 22411224 )
2012

Variations for Lissencephaly 1

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

76
# 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

ClinVar genetic disease variations for Lissencephaly 1:

6 (show top 50) (show all 220)
# Gene Variation Type Significance SNP ID Assembly Location
1 PAFAH1B1 NM_000430.3(PAFAH1B1): c.446A> G (p.His149Arg) single nucleotide variant Pathogenic rs121434482 GRCh37 Chromosome 17, 2573503: 2573503
2 PAFAH1B1 NM_000430.3(PAFAH1B1): c.446A> G (p.His149Arg) single nucleotide variant Pathogenic rs121434482 GRCh38 Chromosome 17, 2670209: 2670209
3 PAFAH1B1 NM_000430.3(PAFAH1B1): c.817C> T (p.Arg273Ter) single nucleotide variant Pathogenic rs121434483 GRCh37 Chromosome 17, 2577499: 2577499
4 PAFAH1B1 NM_000430.3(PAFAH1B1): c.817C> T (p.Arg273Ter) single nucleotide variant Pathogenic rs121434483 GRCh38 Chromosome 17, 2674205: 2674205
5 PAFAH1B1 NM_000430.3(PAFAH1B1): c.991_1002+10del deletion Pathogenic GRCh37 Chromosome 17, 2579889: 2579910
6 PAFAH1B1 NM_000430.3(PAFAH1B1): c.991_1002+10del deletion Pathogenic GRCh38 Chromosome 17, 2676595: 2676616
7 PAFAH1B1 NM_000430.3(PAFAH1B1): c.949G> C (p.Asp317His) single nucleotide variant Pathogenic rs121434485 GRCh37 Chromosome 17, 2579847: 2579847
8 PAFAH1B1 NM_000430.3(PAFAH1B1): c.949G> C (p.Asp317His) single nucleotide variant Pathogenic rs121434485 GRCh38 Chromosome 17, 2676553: 2676553
9 PAFAH1B1 NM_000430.3(PAFAH1B1): c.92T> C (p.Phe31Ser) single nucleotide variant Pathogenic rs121434486 GRCh37 Chromosome 17, 2568725: 2568725
10 PAFAH1B1 NM_000430.3(PAFAH1B1): c.92T> C (p.Phe31Ser) single nucleotide variant Pathogenic rs121434486 GRCh38 Chromosome 17, 2665431: 2665431
11 PAFAH1B1 NM_000430.3(PAFAH1B1): c.484G> A (p.Gly162Ser) single nucleotide variant Pathogenic rs121434487 GRCh37 Chromosome 17, 2573541: 2573541
12 PAFAH1B1 NM_000430.3(PAFAH1B1): c.484G> A (p.Gly162Ser) single nucleotide variant Pathogenic rs121434487 GRCh38 Chromosome 17, 2670247: 2670247
13 PAFAH1B1 NM_000430.3(PAFAH1B1): c.22C> T (p.Arg8Ter) single nucleotide variant Pathogenic rs121434489 GRCh37 Chromosome 17, 2541604: 2541604
14 PAFAH1B1 NM_000430.3(PAFAH1B1): c.22C> T (p.Arg8Ter) single nucleotide variant Pathogenic rs121434489 GRCh38 Chromosome 17, 2638310: 2638310
15 PAFAH1B1 NM_000430.3(PAFAH1B1): c.830A> C (p.His277Pro) single nucleotide variant Pathogenic rs121434490 GRCh37 Chromosome 17, 2577512: 2577512
16 PAFAH1B1 NM_000430.3(PAFAH1B1): c.830A> C (p.His277Pro) single nucleotide variant Pathogenic rs121434490 GRCh38 Chromosome 17, 2674218: 2674218
17 PAFAH1B1 NM_000430.3(PAFAH1B1): c.1002+1G> A single nucleotide variant Pathogenic rs113994203 GRCh37 Chromosome 17, 2579901: 2579901
18 PAFAH1B1 NM_000430.3(PAFAH1B1): c.1002+1G> A single nucleotide variant Pathogenic rs113994203 GRCh38 Chromosome 17, 2676607: 2676607
19 PAFAH1B1 NM_000430.3(PAFAH1B1): c.1050delG (p.Lys351Serfs) deletion Pathogenic rs113994200 GRCh37 Chromosome 17, 2583505: 2583505
20 PAFAH1B1 NM_000430.3(PAFAH1B1): c.1050delG (p.Lys351Serfs) deletion Pathogenic rs113994200 GRCh38 Chromosome 17, 2680211: 2680211
21 PAFAH1B1 NM_000430.3(PAFAH1B1): c.1050dupG (p.Lys351Glufs) duplication Pathogenic rs113994200 GRCh37 Chromosome 17, 2583505: 2583505
22 PAFAH1B1 NM_000430.3(PAFAH1B1): c.1050dupG (p.Lys351Glufs) duplication Pathogenic rs113994200 GRCh38 Chromosome 17, 2680211: 2680211
23 PAFAH1B1 NM_000430.3(PAFAH1B1): c.162delA (p.Lys54Asnfs) deletion Pathogenic rs113994198 GRCh37 Chromosome 17, 2569354: 2569354
24 PAFAH1B1 NM_000430.3(PAFAH1B1): c.162delA (p.Lys54Asnfs) deletion Pathogenic rs113994198 GRCh38 Chromosome 17, 2666060: 2666060
25 PAFAH1B1 NM_000430.3(PAFAH1B1): c.162dupA (p.Trp55Metfs) duplication Pathogenic rs113994198 GRCh37 Chromosome 17, 2569354: 2569354
26 PAFAH1B1 NM_000430.3(PAFAH1B1): c.162dupA (p.Trp55Metfs) duplication Pathogenic rs113994198 GRCh38 Chromosome 17, 2666060: 2666060
27 PAFAH1B1 NM_000430.3(PAFAH1B1): c.569-10T> C single nucleotide variant Pathogenic/Likely pathogenic rs113994202 GRCh37 Chromosome 17, 2575939: 2575939
28 PAFAH1B1 NM_000430.3(PAFAH1B1): c.569-10T> C single nucleotide variant Pathogenic/Likely pathogenic rs113994202 GRCh38 Chromosome 17, 2672645: 2672645
29 PAFAH1B1 NM_000430.3(PAFAH1B1): c.*17C> T single nucleotide variant Benign rs6628 GRCh37 Chromosome 17, 2585113: 2585113
30 PAFAH1B1 NM_000430.3(PAFAH1B1): c.*17C> T single nucleotide variant Benign rs6628 GRCh38 Chromosome 17, 2681819: 2681819
31 PAFAH1B1 NM_000430.3(PAFAH1B1): c.*3G> T single nucleotide variant Benign rs113994197 GRCh37 Chromosome 17, 2585099: 2585099
32 PAFAH1B1 NM_000430.3(PAFAH1B1): c.*3G> T single nucleotide variant Benign rs113994197 GRCh38 Chromosome 17, 2681805: 2681805
33 PAFAH1B1 NM_000430.3(PAFAH1B1): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs587784265 GRCh37 Chromosome 17, 2541585: 2541585
34 PAFAH1B1 NM_000430.3(PAFAH1B1): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs587784265 GRCh38 Chromosome 17, 2638291: 2638291
35 PAFAH1B1 NM_000430.3(PAFAH1B1): c.33-3C> T single nucleotide variant Pathogenic rs587784260 GRCh37 Chromosome 17, 2568663: 2568663
36 PAFAH1B1 NM_000430.3(PAFAH1B1): c.33-3C> T single nucleotide variant Pathogenic rs587784260 GRCh38 Chromosome 17, 2665369: 2665369
37 PAFAH1B1 NM_000430.3(PAFAH1B1): c.37C> T (p.Arg13Ter) single nucleotide variant Pathogenic rs587784262 GRCh37 Chromosome 17, 2568670: 2568670
38 PAFAH1B1 NM_000430.3(PAFAH1B1): c.37C> T (p.Arg13Ter) single nucleotide variant Pathogenic rs587784262 GRCh38 Chromosome 17, 2665376: 2665376
39 PAFAH1B1 NM_000430.3(PAFAH1B1): c.56T> G (p.Leu19Arg) single nucleotide variant Pathogenic rs587784272 GRCh37 Chromosome 17, 2568689: 2568689
40 PAFAH1B1 NM_000430.3(PAFAH1B1): c.56T> G (p.Leu19Arg) single nucleotide variant Pathogenic rs587784272 GRCh38 Chromosome 17, 2665395: 2665395
41 PAFAH1B1 NM_000430.3(PAFAH1B1): c.72T> G (p.Tyr24Ter) single nucleotide variant Pathogenic rs587784285 GRCh37 Chromosome 17, 2568705: 2568705
42 PAFAH1B1 NM_000430.3(PAFAH1B1): c.72T> G (p.Tyr24Ter) single nucleotide variant Pathogenic rs587784285 GRCh38 Chromosome 17, 2665411: 2665411
43 PAFAH1B1 NM_000430.3(PAFAH1B1): c.84T> G (p.Tyr28Ter) single nucleotide variant Pathogenic rs369259961 GRCh37 Chromosome 17, 2568717: 2568717
44 PAFAH1B1 NM_000430.3(PAFAH1B1): c.84T> G (p.Tyr28Ter) single nucleotide variant Pathogenic rs369259961 GRCh38 Chromosome 17, 2665423: 2665423
45 PAFAH1B1 NM_000430.3(PAFAH1B1): c.121G> A (p.Glu41Lys) single nucleotide variant Likely pathogenic rs587784250 GRCh37 Chromosome 17, 2569313: 2569313
46 PAFAH1B1 NM_000430.3(PAFAH1B1): c.121G> A (p.Glu41Lys) single nucleotide variant Likely pathogenic rs587784250 GRCh38 Chromosome 17, 2666019: 2666019
47 PAFAH1B1 NM_000430.3(PAFAH1B1): c.136_137del (p.Lys46Valfs) deletion Pathogenic rs587784252 GRCh37 Chromosome 17, 2569328: 2569329
48 PAFAH1B1 NM_000430.3(PAFAH1B1): c.136_137del (p.Lys46Valfs) deletion Pathogenic rs587784252 GRCh38 Chromosome 17, 2666034: 2666035
49 PAFAH1B1 NM_000430.3(PAFAH1B1): c.152del (p.Leu51Trpfs) deletion Pathogenic rs587784253 GRCh37 Chromosome 17, 2569344: 2569344
50 PAFAH1B1 NM_000430.3(PAFAH1B1): c.152del (p.Leu51Trpfs) deletion Pathogenic rs587784253 GRCh38 Chromosome 17, 2666050: 2666050

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 DCX FEZ1 PAFAH1B1
2 11.92 DCX FEZ1 PAFAH1B1
3 10.62 PAFAH1B1 RELN
4 10.42 DCX PAFAH1B1 PLA2G7 RELN
5 10.4 BICD1 PAFAH1B1

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 cytoskeleton GO:0005856 9.55 BICD1 DCX DISC1 FEZ1 PAFAH1B1
2 microtubule organizing center GO:0005815 9.54 DISC1 FEZ1 PAFAH1B1
3 cytoplasmic microtubule GO:0005881 9.32 BICD1 PAFAH1B1
4 microtubule associated complex GO:0005875 9.26 DCX PAFAH1B1
5 centrosome GO:0005813 9.26 BICD1 DISC1 FEZ1 PAFAH1B1
6 microtubule GO:0005874 8.92 DCX DISC1 FEZ1 PAFAH1B1

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

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.78 DCX DISC1 PAFAH1B1 RELN
2 nervous system development GO:0007399 9.62 DCX DISC1 FEZ1 PAFAH1B1
3 brain development GO:0007420 9.61 DCX PAFAH1B1 RELN
4 cerebral cortex development GO:0021987 9.46 PAFAH1B1 RELN
5 neuron migration GO:0001764 9.46 DCX DISC1 PAFAH1B1 RELN
6 regulation of microtubule cytoskeleton organization GO:0070507 9.4 BICD1 PAFAH1B1
7 positive regulation of dendritic spine morphogenesis GO:0061003 9.37 PAFAH1B1 RELN
8 platelet activating factor metabolic process GO:0046469 9.26 PAFAH1B1 PLA2G7
9 layer formation in cerebral cortex GO:0021819 9.13 DCX PAFAH1B1 RELN
10 hippocampus development GO:0021766 8.92 DCX FEZ1 PAFAH1B1 RELN

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 BICD1 PAFAH1B1
2 dynein complex binding GO:0070840 8.96 BICD1 PAFAH1B1
3 dynactin binding GO:0034452 8.62 BICD1 PAFAH1B1

Sources for Lissencephaly 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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70 SNOMED-CT via HPO
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72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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