LIS1
MCID: LSS005
MIFTS: 53

Lissencephaly 1 (LIS1)

Categories: 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 56 52 73 29 13 6
Lis1 56 52 25 73
Classic Lissencephaly 52 58 73
Ils 56 52 25
Lissencephaly Sequence, Isolated 56 54
Subcortical Laminar Heterotopia 56 73
Subcortical Band Heterotopia 73 71
Classical Lissencephaly 25 71
Lissencephaly, Classic 56 25
Lissencephaly Type 1 25 58
Double Cortex 73 71
Lissencephaly Sequence, Isolated; Ils 56
Lissencephaly Due to Lis1 Mutation 58
Lissencephaly Sequence Isolated 52
Isolated Lissencephaly Sequence 25
Pafah1b1-Related Lissencephaly 58
Lissencephaly Syndrome Type 1 74
Lissencephaly Classic 52
Lissencephaly, Type 1 39
Type 1 Lissencephaly 25
Type I Lissencephaly 71
Lissencephaly-1 73
Sclh 73
Sbh 73

Characteristics:

OMIM:

56
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


External Ids:

OMIM 56 607432
OMIM Phenotypic Series 56 PS607432
ICD10 via Orphanet 33 Q04.3
UMLS via Orphanet 72 C0431375 C1843916
UMLS 71 C0431375 C1848201 C2931857 more

Summaries for Lissencephaly 1

Genetics Home Reference : 25 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 miller-dieker lissencephaly syndrome and band heterotopia. 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 lung, and related phenotypes are intellectual disability and seizures

OMIM : 56 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)

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.

Wikipedia : 74 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

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

(show top 50) (show all 933)
# Related Disease Score Top Affiliating Genes
1 miller-dieker lissencephaly syndrome 32.2 RELN PAFAH1B1 DCX
2 band heterotopia 31.8 RELN PAFAH1B1 DCX
3 lissencephaly 2 31.7 RELN PAFAH1B1
4 lissencephaly, x-linked, 1 30.4 PAFAH1B1 DCX
5 chromosome 17p13.3, centromeric, duplication syndrome 30.1 PAFAH1B1 DCX
6 cerebellar hypoplasia 30.0 RELN PAFAH1B1
7 neuronal migration disorders 29.7 RELN PAFAH1B1 DCX
8 periventricular nodular heterotopia 29.5 RELN PAFAH1B1 DCX
9 lissencephaly with cerebellar hypoplasia 29.4 RELN PAFAH1B1 DCX
10 schizophrenia 1 29.4 PAFAH1B1 FEZ1 DISC1
11 pervasive developmental disorder 28.8 RELN PAFAH1B1 DISC1
12 ganglioglioma 28.8 RELN DCX
13 lissencephaly 28.7 RELN PLA2G7 PAFAH1B1 GID8 DCX
14 congenital disorder of glycosylation, type il 12.6
15 isolated lissencephaly type 1 without known genetic defects 12.3
16 chromosome 17p13.1 deletion syndrome 11.6
17 cortical dysplasia, complex, with other brain malformations 3 11.5
18 cortical dysplasia, complex, with other brain malformations 4 11.5
19 lissencephaly 4 11.5
20 x-linked lissencephaly with abnormal genitalia 11.4
21 amyloidosis, primary localized cutaneous, 1 11.2
22 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 11.2
23 lissencephaly, x-linked, 2 11.1
24 lissencephaly 5 11.1
25 lissencephaly 6 with microcephaly 11.1
26 lissencephaly 7 with cerebellar hypoplasia 11.1
27 lissencephaly 8 11.1
28 lissencephaly 9 with complex brainstem malformation 11.1
29 pafah1b1-associated lissencephaly/subcortical band heterotopia 10.7
30 pachygyria 10.4
31 autoimmune disease 10.4
32 cytokine deficiency 10.3
33 dcx-related disorders 10.2
34 pancreatic cancer 10.2
35 hypertelorism 10.2
36 hydrocephalus 10.2
37 periventricular nodular heterotopia 1 10.2
38 status epilepticus 10.2
39 periodontitis 10.2
40 psoriasis 10.2
41 proteasome-associated autoinflammatory syndrome 1 10.2
42 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
43 pustulosis of palm and sole 10.1
44 thymoma, familial 10.1
45 asthma 10.1
46 psoriatic arthritis 10.1
47 thymoma 10.1
48 rheumatoid arthritis 10.1
49 dermatitis, atopic 10.1
50 triiodothyronine receptor auxiliary protein 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:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 seizures 31 HP:0001250
3 global developmental delay 31 HP:0001263
4 hypoplasia of the brainstem 31 HP:0002365
5 ventriculomegaly 31 HP:0002119
6 cerebellar hypoplasia 31 HP:0001321
7 abnormality of the cerebral white matter 31 HP:0002500
8 pachygyria 31 HP:0001302
9 spastic tetraparesis 31 HP:0001285
10 postnatal microcephaly 31 HP:0005484
11 muscular hypotonia of the trunk 31 HP:0008936
12 perivascular spaces 31 HP:0012520
13 agyria 31 HP:0031882
14 subcortical band heterotopia 31 HP:0032409

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Lissencephaly 1:

45
# 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

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 29 PAFAH1B1

Anatomical Context for Lissencephaly 1

MalaCards organs/tissues related to Lissencephaly 1:

40
Brain, Cortex, Lung, Breast, Liver, Bone, T Cells

Publications for Lissencephaly 1

Articles related to Lissencephaly 1:

(show top 50) (show all 549)
# 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. 54 61 56 6
9063735 1997
2
Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. 61 56 6
14581661 2003
3
LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. 61 56 6
11502906 2001
4
Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. 61 56 6
10441340 1999
5
Location and type of mutation in the LIS1 gene do not predict phenotypic severity. 54 61 56
17664403 2007
6
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. 54 61 56
10430413 1999
7
Inhibition of calpain increases LIS1 expression and partially rescues in vivo phenotypes in a mouse model of lissencephaly. 61 56
19734909 2009
8
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity. 61 56
19667223 2009
9
Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. 61 56
19050731 2009
10
PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia 61 6
20301752 2009
11
Midbrain-hindbrain involvement in lissencephalies. 61 56
19020296 2009
12
High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis. 61 56
18285425 2008
13
Genotypically defined lissencephalies show distinct pathologies. 61 56
16215456 2005
14
Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different. 61 56
15057976 2004
15
Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia. 61 6
15007136 2004
16
Lissencephaly and the molecular basis of neuronal migration. 61 56
12668601 2003
17
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. 61 56
12621583 2003
18
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1). 61 56
11754098 2002
19
Targeted mutagenesis of Lis1 disrupts cortical development and LIS1 homodimerization. 61 56
11344260 2001
20
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly. 61 56
9989616 1999
21
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. 61 56
9817918 1998
22
Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality. 61 56
9697693 1998
23
Inverted neurons in agyria. A Golgi study of a case with abnormal chromosome 17. 56
3744365 1986
24
Increased LIS1 expression affects human and mouse brain development. 54 61
19136950 2009
25
Deletion of 17p13 and LIS1 gene mutation in isolated lissencephaly sequence. 54 61
16814084 2006
26
Impaired proliferation and migration in human Miller-Dieker neural precursors. 54 61
16642511 2006
27
Expression of DISC1 binding partners is reduced in schizophrenia and associated with DISC1 SNPs. 54 61
16510495 2006
28
Functional genomics in postmortem human brain: abnormalities in a DISC1 molecular pathway in schizophrenia. 54 61
17117617 2006
29
Neuronal migration in developmental disorders. 54 61
15921227 2005
30
Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat. 54 61
14708103 2004
31
A mosaic genetic screen for genes necessary for Drosophila mushroom body neuronal morphogenesis. 54 61
12571111 2003
32
Neuronal migration. 54 61
11429281 2001
33
Cerebral gyral dysplasias: molecular genetics and cell biology. 54 61
11262729 2001
34
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. 54 61
11115846 2000
35
Impaired learning and motor behavior in heterozygous Pafah1b1 (Lis1) mutant mice. 54 61
10541472 1999
36
Characterization and chromosomal mapping of two pseudogenes of the mouse Pafaha/Lis1 gene: retrointegration hotspots in the mouse genome. 54 61
9729401 1998
37
Abnormal cortical development; towards elucidation of the LIS1 gene product function (review). 54 61
9852306 1998
38
LIS2, gene and pseudogene, homologous to LIS1 (lissencephaly 1), located on the short and long arms of chromosome 2. 54 61
8586424 1995
39
NuMA1 promotes axon initial segment assembly through inhibition of endocytosis. 61
31727776 2020
40
LIS1 regulates cargo-adapter-mediated activation of dynein by overcoming its autoinhibition in vivo. 61
31562232 2019
41
In vivo analysis of human immune responses in immunodeficient rats. 61
31764762 2019
42
Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature. 61
31585183 2019
43
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. 61
31585108 2019
44
Extraciliary roles of the ciliopathy protein JBTS17 in mitosis and neurogenesis. 61
31004438 2019
45
Fighting Cancer Stem Cell Fate by Targeting LIS1 a WD40 Repeat Protein. 61
31750243 2019
46
Structural and Diffusion MRI Analyses With Histological Observations in Patients With Lissencephaly. 61
31355197 2019
47
Interplay of LIS1 and MeCP2: Interactions and Implications With the Neurodevelopmental Disorders Lissencephaly and Rett Syndrome. 61
31474834 2019
48
Regulation of in vivo dynein force production by CDK5 and 14-3-3ε and KIAA0528. 61
30651536 2019
49
Mechanism of floral scent production in Osmanthus fragrans and the production and regulation of its key floral constituents, β-ionone and linalool. 61
31645961 2019
50
Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation. 61
30144370 2018

Variations for Lissencephaly 1

ClinVar genetic disease variations for Lissencephaly 1:

6 (show top 50) (show all 110) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PAFAH1B1 NM_000430.4(PAFAH1B1):c.56T>G (p.Leu19Arg)SNV Pathogenic 159529 rs587784272 17:2568689-2568689 17:2665395-2665395
2 PAFAH1B1 NM_000430.4(PAFAH1B1):c.3G>A (p.Met1Ile)SNV Pathogenic 159520 rs587784265 17:2541585-2541585 17:2638291-2638291
3 PAFAH1B1 NM_000430.4(PAFAH1B1):c.33-3C>TSNV Pathogenic 159514 rs587784260 17:2568663-2568663 17:2665369-2665369
4 PAFAH1B1 NM_000430.4(PAFAH1B1):c.37C>T (p.Arg13Ter)SNV Pathogenic 159516 rs587784262 17:2568670-2568670 17:2665376-2665376
5 PAFAH1B1 NM_000430.4(PAFAH1B1):c.72T>G (p.Tyr24Ter)SNV Pathogenic 159543 rs587784285 17:2568705-2568705 17:2665411-2665411
6 PAFAH1B1 NM_000430.4(PAFAH1B1):c.84T>G (p.Tyr28Ter)SNV Pathogenic 159547 rs369259961 17:2568717-2568717 17:2665423-2665423
7 PAFAH1B1 NM_000430.4(PAFAH1B1):c.136_137del (p.Lys46fs)deletion Pathogenic 159505 rs587784252 17:2569325-2569326 17:2666031-2666032
8 PAFAH1B1 NM_000430.4(PAFAH1B1):c.152del (p.Leu51fs)deletion Pathogenic 159506 rs587784253 17:2569341-2569341 17:2666047-2666047
9 PAFAH1B1 NM_000430.4(PAFAH1B1):c.163T>A (p.Trp55Arg)SNV Pathogenic 159507 rs587784254 17:2569355-2569355 17:2666061-2666061
10 PAFAH1B1 NM_000430.4(PAFAH1B1):c.192G>C (p.Lys64Asn)SNV Pathogenic 159511 rs587784257 17:2569384-2569384 17:2666090-2666090
11 PAFAH1B1 NM_000430.4(PAFAH1B1):c.192+1G>ASNV Pathogenic 159509 rs587784256 17:2569385-2569385 17:2666091-2666091
12 PAFAH1B1 NM_000430.4(PAFAH1B1):c.192+1G>TSNV Pathogenic 159510 rs587784256 17:2569385-2569385 17:2666091-2666091
13 PAFAH1B1 NM_000430.4(PAFAH1B1):c.265C>T (p.Arg89Ter)SNV Pathogenic 159512 rs587784258 17:2570358-2570358 17:2667064-2667064
14 PAFAH1B1 NM_000430.4(PAFAH1B1):c.305dup (p.Tyr102Ter)duplication Pathogenic 159513 rs587784259 17:2570397-2570398 17:2667103-2667104
15 PAFAH1B1 NM_000430.4(PAFAH1B1):c.371T>A (p.Val124Asp)SNV Pathogenic 159515 rs587784261 17:2570464-2570464 17:2667170-2667170
16 PAFAH1B1 NM_000430.4(PAFAH1B1):c.386A>T (p.Asp129Val)SNV Pathogenic 159517 rs587784263 17:2570479-2570479 17:2667185-2667185
17 PAFAH1B1 NM_000430.4(PAFAH1B1):c.399+1G>ASNV Pathogenic 159519 rs587784264 17:2570493-2570493 17:2667199-2667199
18 PAFAH1B1 NM_000430.4(PAFAH1B1):c.405G>A (p.Trp135Ter)SNV Pathogenic 159521 rs587784266 17:2573462-2573462 17:2670168-2670168
19 PAFAH1B1 NM_000430.4(PAFAH1B1):c.430C>T (p.Arg144Ter)SNV Pathogenic 159522 rs587784267 17:2573487-2573487 17:2670193-2670193
20 PAFAH1B1 NM_000430.4(PAFAH1B1):c.453_454CT[1] (p.Ser152fs)short repeat Pathogenic 159523 rs587784268 17:2573510-2573511 17:2670216-2670217
21 PAFAH1B1 NM_000430.4(PAFAH1B1):c.460C>T (p.Gln154Ter)SNV Pathogenic 159524 rs587784269 17:2573517-2573517 17:2670223-2670223
22 PAFAH1B1 NM_000430.4(PAFAH1B1):c.524_528del (p.Lys175fs)deletion Pathogenic 159526 rs587784270 17:2573579-2573583 17:2670285-2670289
23 PAFAH1B1 NM_000430.4(PAFAH1B1):c.537del (p.Gln180fs)deletion Pathogenic 159527 rs587784271 17:2573591-2573591 17:2670297-2670297
24 PAFAH1B1 NM_000430.4(PAFAH1B1):c.632C>G (p.Ser211Ter)SNV Pathogenic 159530 rs587784273 17:2576012-2576012 17:2672718-2672718
25 PAFAH1B1 NM_000430.4(PAFAH1B1):c.644_651del (p.Thr215fs)deletion Pathogenic 159531 rs587784274 17:2576018-2576025 17:2672724-2672731
26 PAFAH1B1 NM_000430.4(PAFAH1B1):c.645_646TA[1] (p.Ile216fs)short repeat Pathogenic 159532 rs587784275 17:2576025-2576026 17:2672731-2672732
27 PAFAH1B1 NM_000430.4(PAFAH1B1):c.657G>A (p.Trp219Ter)SNV Pathogenic 159533 rs587784276 17:2576037-2576037 17:2672743-2672743
28 PAFAH1B1 NM_000430.4(PAFAH1B1):c.658del (p.Glu220fs)deletion Pathogenic 159534 rs587784277 17:2576036-2576036 17:2672742-2672742
29 PAFAH1B1 NM_000430.4(PAFAH1B1):c.664C>T (p.Gln222Ter)SNV Pathogenic 159535 rs587784278 17:2576044-2576044 17:2672750-2672750
30 PAFAH1B1 NM_000430.4(PAFAH1B1):c.671G>A (p.Gly224Asp)SNV Pathogenic 159538 rs587784281 17:2576051-2576051 17:2672757-2672757
31 PAFAH1B1 NM_000430.4(PAFAH1B1):c.675C>G (p.Tyr225Ter)SNV Pathogenic 159539 rs587784282 17:2577357-2577357 17:2674063-2674063
32 PAFAH1B1 NM_000430.4(PAFAH1B1):c.716dup (p.Met239fs)duplication Pathogenic 159542 rs587784284 17:2577397-2577398 17:2674103-2674104
33 PAFAH1B1 NM_000430.4(PAFAH1B1):c.730C>T (p.Gln244Ter)SNV Pathogenic 159544 rs587784286 17:2577412-2577412 17:2674118-2674118
34 PAFAH1B1 NM_000430.4(PAFAH1B1):c.900+1G>ASNV Pathogenic 159549 rs587784290 17:2577583-2577583 17:2674289-2674289
35 PAFAH1B1 NM_000430.4(PAFAH1B1):c.910del (p.Ser304fs)deletion Pathogenic 159551 rs587784292 17:2579802-2579802 17:2676508-2676508
36 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1009C>T (p.His337Tyr)SNV Pathogenic 159489 rs587784236 17:2583464-2583464 17:2680170-2680170
37 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1024_1031del (p.Arg342fs)deletion Pathogenic 159490 rs587784237 17:2583479-2583486 17:2680185-2680192
38 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1063del (p.Ser355fs)deletion Pathogenic 159491 rs587784238 17:2583518-2583518 17:2680224-2680224
39 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1064G>A (p.Ser355Asn)SNV Pathogenic 159492 rs587784239 17:2583519-2583519 17:2680225-2680225
40 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1100del (p.Tyr367fs)deletion Pathogenic 159493 rs587784240 17:2583555-2583555 17:2680261-2680261
41 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1111C>T (p.Arg371Ter)SNV Pathogenic 159494 rs587784241 17:2583566-2583566 17:2680272-2680272
42 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1135C>T (p.His379Tyr)SNV Pathogenic 159495 rs587784242 17:2583590-2583590 17:2680296-2680296
43 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1159G>T (p.Asp387Tyr)SNV Pathogenic 159497 rs587784244 17:2583614-2583614 17:2680320-2680320
44 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1159+2T>ASNV Pathogenic 159496 rs587784243 17:2583616-2583616 17:2680322-2680322
45 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1165C>T (p.His389Tyr)SNV Pathogenic 159498 rs587784245 17:2585028-2585028 17:2681734-2681734
46 PAFAH1B1 NM_000430.4(PAFAH1B1):c.841T>C (p.Cys281Arg)SNV Pathogenic 159546 rs587784288 17:2577523-2577523 17:2674229-2674229
47 PAFAH1B1 NM_000430.4(PAFAH1B1):c.851G>A (p.Trp284Ter)SNV Pathogenic 159548 rs587784289 17:2577533-2577533 17:2674239-2674239
48 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1002+5G>ASNV Pathogenic 159486 rs587784235 17:2579905-2579905 17:2676611-2676611
49 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1196G>C (p.Ser399Thr)SNV Pathogenic 159501 rs587784248 17:2585059-2585059 17:2681765-2681765
50 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1201G>C (p.Asp401His)SNV Pathogenic 159502 rs587784249 17:2585064-2585064 17:2681770-2681770

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

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 microtubule organizing center GO:0005815 9.65 PAFAH1B1 FEZ1 DISC1
2 cytoskeleton GO:0005856 9.65 PAFAH1B1 FEZ1 DISC1 DCX BICD1
3 neuron projection GO:0043005 9.63 RELN PAFAH1B1 DCX
4 axon GO:0030424 9.61 PAFAH1B1 FEZ1 DISC1
5 centrosome GO:0005813 9.46 PAFAH1B1 FEZ1 DISC1 BICD1
6 kinesin complex GO:0005871 9.4 PAFAH1B1 DISC1
7 cytoplasmic microtubule GO:0005881 9.37 PAFAH1B1 BICD1
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 12)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.81 RELN PAFAH1B1 DISC1 DCX
2 nervous system development GO:0007399 9.67 PAFAH1B1 FEZ1 DISC1 DCX
3 brain development GO:0007420 9.65 RELN PAFAH1B1 DCX
4 positive regulation of neuron projection development GO:0010976 9.5 RELN FEZ1 DISC1
5 cerebral cortex development GO:0021987 9.49 RELN PAFAH1B1
6 positive regulation of axon extension GO:0045773 9.46 PAFAH1B1 DISC1
7 neuron migration GO:0001764 9.46 RELN PAFAH1B1 DISC1 DCX
8 regulation of microtubule cytoskeleton organization GO:0070507 9.43 PAFAH1B1 BICD1
9 positive regulation of dendritic spine morphogenesis GO:0061003 9.4 RELN PAFAH1B1
10 platelet activating factor metabolic process GO:0046469 9.26 PLA2G7 PAFAH1B1
11 layer formation in cerebral cortex GO:0021819 9.13 RELN PAFAH1B1 DCX
12 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
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