LIS2
MCID: LSS006
MIFTS: 54

Lissencephaly 2 (LIS2)

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

Aliases & Classifications for Lissencephaly 2

MalaCards integrated aliases for Lissencephaly 2:

Name: Lissencephaly 2 57 12 20 72 13
Norman-Roberts Syndrome 57 12 73 72 29 6 15
Lissencephaly Syndrome, Norman-Roberts Type 57 12 58 70
Lis2 57 20 72
Lissencephaly Syndrome Norman-Roberts Type 20 72
Norman Roberts Lissencephaly Syndrome 20 44
Lissencephaly with Cerebellar Hypoplasia 72
Norman-Roberts Lissencephaly Syndrome 73
Cobblestone Lissencephaly 70
Microlissencephaly Type a 58
Type Ii Lissencephaly 29
Lissencephaly, Type 2 39
Lch 72

Characteristics:

Orphanet epidemiological data:

58
lissencephaly syndrome, norman-roberts type
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
lissencephaly 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Lissencephaly 2

GARD : 20 Lissencephaly 2 is an inherited condition characterized by classical lissencephaly in association with certain abnormalities of the skull and facial (craniofacial) region, such as a low, sloping forehead; abnormal prominence of the back portion of the head (occiput); a broad, prominent nasal bridge; and widely set eyes (ocular hypertelorism). Additional symptoms and findings typically include severe or profound intellectual disability, seizures, abnormally increased muscle tone ( hypertonia ), exaggerated reflexes (hyperreflexia), and severe growth failure. This condition is inherited in an autosomal recessive fashion. Mutations in the RELN gene have been identified in some affected individuals.

MalaCards based summary : Lissencephaly 2, also known as norman-roberts syndrome, is related to lissencephaly, x-linked, 2 and congenital muscular dystrophy-dystroglycanopathy type a. An important gene associated with Lissencephaly 2 is RELN (Reelin), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Reelin Pathway (Cajal-Retzius cells). Affiliated tissues include brain, cerebellum and spleen, and related phenotypes are intellectual disability and hypertelorism

Disease Ontology : 12 A lissencephaly that has material basis in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22.

UniProtKB/Swiss-Prot : 72 Lissencephaly 2: A classic type lissencephaly associated with ataxia, mental retardation, seizures and abnormalities of the cerebellum, hippocampus and brainstem.

Wikipedia : 73 Norman-Roberts syndrome, is a rare form of microlissencephaly caused by a mutation in the RELN gene. A... more...

More information from OMIM: 257320 PS607432

Related Diseases for Lissencephaly 2

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

(show top 50) (show all 158)
# Related Disease Score Top Affiliating Genes
1 lissencephaly, x-linked, 2 32.6 LOC109610631 ARX
2 congenital muscular dystrophy-dystroglycanopathy type a 31.7 RNU4ATAC FKTN
3 lissencephaly with cerebellar hypoplasia 31.1 VLDLR RELN PAFAH1B1 LRP8 ARX
4 autosomal dominant epilepsy with auditory features 30.4 RELN LOC101927870
5 pachygyria 30.4 TUBA1A PAFAH1B1
6 tubulinopathy 30.3 TUBB2B TUBA1A
7 lissencephaly 1 30.2 RELN PAFAH1B1
8 neuronal migration disorders 29.7 TUBA1A RELN PAFAH1B1 LOC101927870 ARX
9 microlissencephaly 29.7 TUBB2B TUBA1A NDE1
10 muscular dystrophy-dystroglycanopathy , type a, 4 29.4 RNU4ATAC FKTN
11 walker-warburg syndrome 29.3 TUBG1 TUBB2B TUBA1A PAFAH1B1 FKTN
12 cerebellar hypoplasia 29.1 VLDLR TUBA1A RELN PAFAH1B1 LRP8
13 microcephaly 28.7 VLDLR TUBG1 TUBA1A RNU4ATAC NDE1 FKTN
14 miller-dieker lissencephaly syndrome 28.2 VLDLR TUBG1 TUBB2B TUBA1A RELN PAFAH1B1
15 lissencephaly 27.0 VLDLR TUBG1 TUBB2B TUBA1A RELN PAFAH1B1
16 langerhans cell histiocytosis 11.7
17 leydig cell hypoplasia 11.5
18 lissencephaly with cerebellar hypoplasia type f 11.3
19 lissencephaly with cerebellar hypoplasia type e 11.3
20 lissencephaly with cerebellar hypoplasia type b 11.3
21 lissencephaly with cerebellar hypoplasia type a 11.3
22 lissencephaly with cerebellar hypoplasia type d 11.3
23 lissencephaly with cerebellar hypoplasia type c 11.3
24 lissencephaly 5 11.3
25 muscular dystrophy-dystroglycanopathy , type a, 1 11.2
26 histiocytosis 11.1
27 letterer-siwe disease 11.1
28 leydig cell hypoplasia, type i 10.9
29 hashimoto-pritzker syndrome 10.9
30 roberts-sc phocomelia syndrome 10.5
31 basal encephalocele 10.3 LOC109610631 ARX
32 diabetes insipidus 10.3
33 muscular dystrophy 10.3
34 mental retardation, x-linked, with or without seizures, arx-related 10.2 LOC109610631 ARX
35 lissencephaly, x-linked, 1 10.2 PAFAH1B1 ARX
36 epilepsy, familial temporal lobe, 7 10.2 RELN LOC101927870
37 muscular dystrophy, congenital, lmna-related 10.2
38 partington x-linked mental retardation syndrome 10.2 LOC109610631 ARX
39 infancy electroclinical syndrome 10.1 PAFAH1B1 ARX
40 hypomelanosis of ito 10.1 TUBA1A PAFAH1B1
41 corpus callosum, agenesis of 10.1
42 heart septal defect 10.1
43 atrial heart septal defect 10.1
44 colpocephaly 10.1
45 hypertonia 10.1
46 tubulinopathy-associated dysgyria 10.1 TUBB2B TUBA1A
47 aicardi syndrome 10.1 TUBB2B ARX
48 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
49 polymicrogyria 10.1
50 paralytic squint 10.1 TUBB2B TUBA1A

Graphical network of the top 20 diseases related to Lissencephaly 2:



Diseases related to Lissencephaly 2

Symptoms & Phenotypes for Lissencephaly 2

Human phenotypes related to Lissencephaly 2:

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
4 congenital microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0011451
5 4-layered lissencephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006818
6 microlissencephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0045028
7 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
8 prominent occiput 58 31 frequent (33%) Frequent (79-30%) HP:0000269
9 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
10 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
11 microretrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000308
12 severe global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011344
13 profound global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0012736
14 wide nose 58 31 frequent (33%) Frequent (79-30%) HP:0000445
15 sloping forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000340
16 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
17 narrow forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000341
18 abnormal muscle tone 58 31 frequent (33%) Frequent (79-30%) HP:0003808
19 small forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000350
20 seizure 31 frequent (33%) HP:0001250
21 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
22 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
23 cerebral calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514
24 dolichocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000268
25 adducted thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0001181
26 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
27 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
28 rocker bottom foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001838
29 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
30 abnormal retinal morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000479
31 patent foramen ovale 58 31 occasional (7.5%) Occasional (29-5%) HP:0001655
32 hypoplastic spleen 58 31 occasional (7.5%) Occasional (29-5%) HP:0006270
33 global developmental delay 31 very rare (1%) HP:0001263
34 hypotonia 31 very rare (1%) HP:0001252
35 seizures 58 Frequent (79-30%)
36 microcephaly 31 HP:0000252
37 lymphedema 31 HP:0001004
38 atrial septal defect 58 Occasional (29-5%)
39 prominent nasal bridge 31 HP:0000426
40 cerebellar hypoplasia 31 HP:0001321
41 abnormality of neuronal migration 58 Occasional (29-5%)
42 abnormality of calvarial morphology 58 Frequent (79-30%)
43 generalized-onset seizure 31 HP:0002197
44 hypoplasia of the pons 31 HP:0012110
45 thick cerebral cortex 31 HP:0006891

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
H E E N T:
microcephaly
prominent nasal bridge
low, sloping forehead

Lab:
normal chromosomes

Neuro:
thick cerebral cortex
lissencephaly, type i

Clinical features from OMIM®:

257320 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Lissencephaly 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.65 ARX FKTN LRP8 NDE1 PAFAH1B1 RELN
2 nervous system MP:0003631 9.28 ARX FKTN LRP8 NDE1 PAFAH1B1 RELN

Drugs & Therapeutics for Lissencephaly 2

Search Clinical Trials , NIH Clinical Center for Lissencephaly 2

Cochrane evidence based reviews: norman roberts lissencephaly syndrome

Genetic Tests for Lissencephaly 2

Genetic tests related to Lissencephaly 2:

# Genetic test Affiliating Genes
1 Norman-Roberts Syndrome 29 RELN
2 Type Ii Lissencephaly 29

Anatomical Context for Lissencephaly 2

MalaCards organs/tissues related to Lissencephaly 2:

40
Brain, Cerebellum, Spleen, Cortex, Pons

Publications for Lissencephaly 2

Articles related to Lissencephaly 2:

(show all 17)
# Title Authors PMID Year
1
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. 57 6
10973257 2000
2
A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema. 6 57
7682675 1993
3
Report of two Turkish infants with Norman-Roberts syndrome. 61 57
15083694 2004
4
Norman-Roberts syndrome: clinical and molecular studies. 61 57
8368261 1993
5
Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly. 61 57
6476009 1984
6
Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. 57
17431900 2007
7
Lissencephaly. 57
175907 1976
8
The Reeler Mouse: A Translational Model of Human Neurological Conditions, or Simply a Good Tool for Better Understanding Neurodevelopment? 61
31805691 2019
9
Endoscopic-Assisted (Through a Mini Craniotomy) Corpus Callosotomy Combined With Anterior, Hippocampal, and Posterior Commissurotomy in Lennox-Gastaut Syndrome: A Pilot Study to Establish Its Safety and Efficacy. 61
26474092 2016
10
Endoscopic epilepsy surgery: Emergence of a new procedure. 61
26238894 2015
11
A case of Norman-Roberts syndrome identified from postnatal diagnosis of microlissencephaly. 61
25927602 2015
12
Sonographic assessment of normal and abnormal patterns of fetal cerebral lamination. 61
22610990 2012
13
Clinical and neuroimaging profile of congenital brain malformations in children with spastic cerebral palsy. 61
18467267 2008
14
Norman-Roberts syndrome: characterization of the phenotype in early fetal life. 61
17367103 2007
15
Norman-Roberts syndrome: prenatal diagnosis and autopsy findings. 61
10861718 2000
16
The MR evaluation of pachygyria and associated syndromes. 61
1999213 1991
17
Norman-Roberts syndrome. 61
3377013 1988

Variations for Lissencephaly 2

ClinVar genetic disease variations for Lissencephaly 2:

6 (show top 50) (show all 1106)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RELN RELN, IVS37AS, G-A, -1 SNV Pathogenic 9084 GRCh37:
GRCh38:
2 RELN RELN, 148-BP DEL Deletion Pathogenic 9085 GRCh37:
GRCh38:
3 RELN NM_005045.4(RELN):c.5193C>A (p.Tyr1731Ter) SNV Pathogenic 130110 rs587780435 GRCh37: 7:103205742-103205742
GRCh38: 7:103565295-103565295
4 RELN NM_005045.4(RELN):c.5195_5208dup (p.Ile1737fs) Duplication Pathogenic 130111 rs587780436 GRCh37: 7:103205726-103205727
GRCh38: 7:103565279-103565280
5 RELN NM_005045.4(RELN):c.7490+1G>A SNV Pathogenic 130112 rs587780437 GRCh37: 7:103163837-103163837
GRCh38: 7:103523390-103523390
6 RELN NM_005045.4(RELN):c.329dup (p.Gly111fs) Duplication Pathogenic 212035 rs797045912 GRCh37: 7:103557529-103557530
GRCh38: 7:103917082-103917083
7 RELN NM_005045.4(RELN):c.5587C>T (p.Gln1863Ter) SNV Pathogenic 212041 rs797045915 GRCh37: 7:103198439-103198439
GRCh38: 7:103557992-103557992
8 RELN NM_005045.4(RELN):c.5969+1G>A SNV Pathogenic 225550 rs869320767 GRCh37: 7:103194106-103194106
GRCh38: 7:103553659-103553659
9 RELN NM_005045.4(RELN):c.3485dup (p.Ile1163fs) Duplication Pathogenic 840300 GRCh37: 7:103236956-103236957
GRCh38: 7:103596509-103596510
10 RELN NM_005045.4(RELN):c.3215del (p.Asp1072fs) Deletion Pathogenic 856842 GRCh37: 7:103243869-103243869
GRCh38: 7:103603422-103603422
11 RELN NM_005045.4(RELN):c.2086dup (p.Ser696fs) Duplication Pathogenic 859187 GRCh37: 7:103276898-103276899
GRCh38: 7:103636451-103636452
12 RELN NM_005045.4(RELN):c.6202_6203del (p.Leu2068fs) Deletion Pathogenic 955573 GRCh37: 7:103191613-103191614
GRCh38: 7:103551166-103551167
13 RELN , LOC101927870 NM_005045.4(RELN):c.9841del (p.Ala3281fs) Deletion Likely pathogenic 800880 rs1586472959 GRCh37: 7:103126786-103126786
GRCh38: 7:103486339-103486339
14 RELN NC_000007.14:g.(?_103589576)_(103610827_?)dup Duplication Likely pathogenic 831042 GRCh37: 7:103230023-103251274
GRCh38:
15 RELN NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu) SNV Conflicting interpretations of pathogenicity 130126 rs115913736 GRCh37: 7:103205779-103205779
GRCh38: 7:103565332-103565332
16 RELN NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) SNV Conflicting interpretations of pathogenicity 167582 rs41275239 GRCh37: 7:103197603-103197603
GRCh38: 7:103557156-103557156
17 RELN NM_005045.4(RELN):c.6193G>A (p.Val2065Ile) SNV Uncertain significance 167580 rs201627577 GRCh37: 7:103191623-103191623
GRCh38: 7:103551176-103551176
18 RELN NM_005045.4(RELN):c.2446C>T (p.Leu816Phe) SNV Uncertain significance 95216 rs144653976 GRCh37: 7:103275891-103275891
GRCh38: 7:103635444-103635444
19 RELN NM_005045.4(RELN):c.6925G>A (p.Asp2309Asn) SNV Uncertain significance 167579 rs138978280 GRCh37: 7:103180649-103180649
GRCh38: 7:103540202-103540202
20 RELN NM_005045.4(RELN):c.139G>A (p.Glu47Lys) SNV Uncertain significance 95211 rs139648092 GRCh37: 7:103629665-103629665
GRCh38: 7:103989218-103989218
21 RELN NM_005045.4(RELN):c.5711C>T (p.Thr1904Met) SNV Uncertain significance 95223 rs114190729 GRCh37: 7:103197510-103197510
GRCh38: 7:103557063-103557063
22 RELN , LOC101927870 NM_005045.4(RELN):c.10016T>C (p.Met3339Thr) SNV Uncertain significance 167574 rs150638029 GRCh37: 7:103124265-103124265
GRCh38: 7:103483818-103483818
23 RELN NM_005045.4(RELN):c.4337A>G (p.Asn1446Ser) SNV Uncertain significance 95220 rs115577014 GRCh37: 7:103214713-103214713
GRCh38: 7:103574266-103574266
24 RELN NM_005045.4(RELN):c.2446C>T (p.Leu816Phe) SNV Uncertain significance 95216 rs144653976 GRCh37: 7:103275891-103275891
GRCh38: 7:103635444-103635444
25 RELN NM_005045.4(RELN):c.139G>A (p.Glu47Lys) SNV Uncertain significance 95211 rs139648092 GRCh37: 7:103629665-103629665
GRCh38: 7:103989218-103989218
26 RELN NM_005045.4(RELN):c.6925G>A (p.Asp2309Asn) SNV Uncertain significance 167579 rs138978280 GRCh37: 7:103180649-103180649
GRCh38: 7:103540202-103540202
27 RELN NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln) SNV Uncertain significance 95226 rs200010849 GRCh37: 7:103183202-103183202
GRCh38: 7:103542755-103542755
28 RELN NM_005045.4(RELN):c.6193G>A (p.Val2065Ile) SNV Uncertain significance 167580 rs201627577 GRCh37: 7:103191623-103191623
GRCh38: 7:103551176-103551176
29 RELN NM_005045.4(RELN):c.5711C>T (p.Thr1904Met) SNV Uncertain significance 95223 rs114190729 GRCh37: 7:103197510-103197510
GRCh38: 7:103557063-103557063
30 RELN , LOC101927870 NM_005045.4(RELN):c.9329G>A (p.Arg3110Gln) SNV Uncertain significance 167576 rs368572382 GRCh37: 7:103136210-103136210
GRCh38: 7:103495763-103495763
31 RELN NM_005045.4(RELN):c.877G>A (p.Asp293Asn) SNV Uncertain significance 393143 rs200289289 GRCh37: 7:103341382-103341382
GRCh38: 7:103700935-103700935
32 RELN NM_005045.4(RELN):c.7114G>A (p.Val2372Met) SNV Uncertain significance 130140 rs114344654 GRCh37: 7:103179591-103179591
GRCh38: 7:103539144-103539144
33 RELN NM_005045.4(RELN):c.5643G>A (p.Leu1881=) SNV Uncertain significance 95222 rs141387255 GRCh37: 7:103197578-103197578
GRCh38: 7:103557131-103557131
34 RELN NM_005045.4(RELN):c.1948A>T (p.Ile650Phe) SNV Uncertain significance 547025 rs371652596 GRCh37: 7:103290775-103290775
GRCh38: 7:103650328-103650328
35 RELN NM_005045.4(RELN):c.139G>A (p.Glu47Lys) SNV Uncertain significance 95211 rs139648092 GRCh37: 7:103629665-103629665
GRCh38: 7:103989218-103989218
36 RELN NM_005045.4(RELN):c.7147G>A (p.Ala2383Thr) SNV Uncertain significance 475983 rs978248682 GRCh37: 7:103179558-103179558
GRCh38: 7:103539111-103539111
37 RELN NM_005045.4(RELN):c.7634C>T (p.Ala2545Val) SNV Uncertain significance 287125 rs116634494 GRCh37: 7:103162503-103162503
GRCh38: 7:103522056-103522056
38 RELN NM_005045.4(RELN):c.4337A>G (p.Asn1446Ser) SNV Uncertain significance 95220 rs115577014 GRCh37: 7:103214713-103214713
GRCh38: 7:103574266-103574266
39 RELN NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln) SNV Uncertain significance 95226 rs200010849 GRCh37: 7:103183202-103183202
GRCh38: 7:103542755-103542755
40 RELN NM_005045.4(RELN):c.2376T>C (p.Gly792=) SNV Uncertain significance 95215 rs398124191 GRCh37: 7:103275961-103275961
GRCh38: 7:103635514-103635514
41 RELN NM_005045.4(RELN):c.5547T>C (p.Leu1849=) SNV Uncertain significance 388016 rs766701326 GRCh37: 7:103198479-103198479
GRCh38: 7:103558032-103558032
42 RELN NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) SNV Uncertain significance 208481 rs201044262 GRCh37: 7:103281044-103281044
GRCh38: 7:103640597-103640597
43 RELN NM_005045.4(RELN):c.7114G>A (p.Val2372Met) SNV Uncertain significance 130140 rs114344654 GRCh37: 7:103179591-103179591
GRCh38: 7:103539144-103539144
44 RELN NM_005045.4(RELN):c.1231C>A (p.Leu411Ile) SNV Uncertain significance 235530 rs144978163 GRCh37: 7:103322621-103322621
GRCh38: 7:103682174-103682174
45 RELN NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) SNV Uncertain significance 208481 rs201044262 GRCh37: 7:103281044-103281044
GRCh38: 7:103640597-103640597
46 RELN NM_005045.4(RELN):c.2125A>G (p.Met709Val) SNV Uncertain significance 194853 rs114577182 GRCh37: 7:103276860-103276860
GRCh38: 7:103636413-103636413
47 RELN NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) SNV Uncertain significance 208481 rs201044262 GRCh37: 7:103281044-103281044
GRCh38: 7:103640597-103640597
48 RELN NM_005045.4(RELN):c.1231C>A (p.Leu411Ile) SNV Uncertain significance 235530 rs144978163 GRCh37: 7:103322621-103322621
GRCh38: 7:103682174-103682174
49 RELN , LOC101927870 NM_005045.4(RELN):c.8843+3A>C SNV Uncertain significance 197969 rs200124755 GRCh37: 7:103138521-103138521
GRCh38: 7:103498074-103498074
50 RELN NM_005045.4(RELN):c.1948A>T (p.Ile650Phe) SNV Uncertain significance 547025 rs371652596 GRCh37: 7:103290775-103290775
GRCh38: 7:103650328-103650328

Expression for Lissencephaly 2

Search GEO for disease gene expression data for Lissencephaly 2.

Pathways for Lissencephaly 2

Pathways related to Lissencephaly 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.4 TUBG1 TUBA1A PAFAH1B1 NDE1
2 11.5 VLDLR RELN LRP8
3 11.5 VLDLR RELN LRP8
4
Show member pathways
11.37 TUBG1 TUBB2B TUBA1A
5 10.75 VLDLR RELN PAFAH1B1 LRP8
6 10.39 VLDLR RELN PAFAH1B1 LRP8

GO Terms for Lissencephaly 2

Cellular components related to Lissencephaly 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 spindle GO:0005819 9.5 TUBG1 PAFAH1B1 NDE1
2 microtubule cytoskeleton GO:0015630 9.33 TUBB2B TUBA1A PAFAH1B1
3 microtubule associated complex GO:0005875 9.26 PAFAH1B1 LRP8
4 cytoplasmic microtubule GO:0005881 9.13 TUBG1 TUBA1A PAFAH1B1
5 microtubule GO:0005874 9.02 TUBG1 TUBB2B TUBA1A PAFAH1B1 NDE1

Biological processes related to Lissencephaly 2 according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.93 VLDLR TUBB2B PAFAH1B1 NDE1 FKTN ARX
2 axon guidance GO:0007411 9.82 VLDLR RELN ARX
3 microtubule cytoskeleton organization GO:0000226 9.81 TUBG1 TUBB2B TUBA1A PAFAH1B1
4 mitotic cell cycle GO:0000278 9.8 TUBG1 TUBB2B TUBA1A
5 G2/M transition of mitotic cell cycle GO:0000086 9.8 TUBG1 TUBA1A PAFAH1B1 NDE1
6 modulation of chemical synaptic transmission GO:0050804 9.75 TUBB2B RELN LRP8
7 forebrain development GO:0030900 9.74 RELN NDE1 ARX
8 hippocampus development GO:0021766 9.73 RELN PAFAH1B1 LRP8
9 ciliary basal body-plasma membrane docking GO:0097711 9.73 TUBG1 TUBA1A PAFAH1B1 NDE1
10 positive regulation of protein kinase activity GO:0045860 9.71 VLDLR RELN LRP8
11 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.71 TUBG1 TUBA1A PAFAH1B1 NDE1
12 cerebral cortex development GO:0021987 9.67 RELN PAFAH1B1 NDE1 LRP8
13 positive regulation of protein tyrosine kinase activity GO:0061098 9.65 RELN LRP8
14 positive regulation of dendritic spine morphogenesis GO:0061003 9.65 RELN PAFAH1B1 LRP8
15 dendrite morphogenesis GO:0048813 9.64 VLDLR LRP8
16 negative regulation of JNK cascade GO:0046329 9.63 PAFAH1B1 FKTN
17 establishment of mitotic spindle orientation GO:0000132 9.63 PAFAH1B1 NDE1
18 positive regulation of CREB transcription factor activity GO:0032793 9.62 RELN LRP8
19 microtubule nucleation GO:0007020 9.61 TUBG1 NDE1
20 vesicle transport along microtubule GO:0047496 9.61 PAFAH1B1 NDE1
21 positive regulation of dendrite development GO:1900006 9.6 VLDLR LRP8
22 neuroblast proliferation GO:0007405 9.59 PAFAH1B1 NDE1
23 microtubule organizing center organization GO:0031023 9.58 PAFAH1B1 NDE1
24 regulation of microtubule motor activity GO:2000574 9.55 PAFAH1B1 NDE1
25 cerebral cortex tangential migration GO:0021800 9.52 RELN ARX
26 layer formation in cerebral cortex GO:0021819 9.5 RELN PAFAH1B1 LRP8
27 microtubule-based process GO:0007017 9.46 TUBG1 TUBB2B TUBA1A PAFAH1B1
28 ventral spinal cord development GO:0021517 9.43 VLDLR RELN LRP8
29 neuron migration GO:0001764 9.35 TUBB2B RELN PAFAH1B1 NDE1 ARX
30 reelin-mediated signaling pathway GO:0038026 8.92 VLDLR RELN PAFAH1B1 LRP8

Molecular functions related to Lissencephaly 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apolipoprotein binding GO:0034185 9.37 VLDLR LRP8
2 structural constituent of cytoskeleton GO:0005200 9.33 TUBG1 TUBB2B TUBA1A
3 cargo receptor activity GO:0038024 9.32 VLDLR LRP8
4 low-density lipoprotein particle receptor activity GO:0005041 9.26 VLDLR LRP8
5 very-low-density lipoprotein particle receptor activity GO:0030229 8.96 VLDLR LRP8
6 reelin receptor activity GO:0038025 8.62 VLDLR LRP8

Sources for Lissencephaly 2

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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