MCID: LSS024
MIFTS: 37

Lissencephaly with Cerebellar Hypoplasia

Categories: Rare diseases, Fetal diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Lissencephaly with Cerebellar Hypoplasia

MalaCards integrated aliases for Lissencephaly with Cerebellar Hypoplasia:

Name: Lissencephaly with Cerebellar Hypoplasia 24
Lissencephaly Syndrome, Norman-Roberts Type 24 69
Lissencephaly 3 24 69
Norman-Roberts Syndrome 24
Lissencephaly 2 24
Lis2 24
Lis3 24
Lch 24

Classifications:



External Ids:

UMLS 69 C1969029

Summaries for Lissencephaly with Cerebellar Hypoplasia

Genetics Home Reference : 24 Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, resulting in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. In addition, the part of the brain that coordinates movement is unusually small and underdeveloped (cerebellar hypoplasia). Other parts of the brain are also often underdeveloped in LCH, including the hippocampus, which plays a role in learning and memory, and the part of the brain that is connected to the spinal cord (the brainstem).

MalaCards based summary : Lissencephaly with Cerebellar Hypoplasia, also known as lissencephaly syndrome, norman-roberts type, is related to cerebellar hypoplasia and lissencephaly, and has symptoms including seizures and ataxia. An important gene associated with Lissencephaly with Cerebellar Hypoplasia is RELN (Reelin), and among its related pathways/superpathways are Neuroscience and Reelin Pathway (Cajal-Retzius cells). Affiliated tissues include brain, spinal cord and cerebellum, and related phenotypes are behavior/neurological and cellular

Related Diseases for Lissencephaly with Cerebellar Hypoplasia

Diseases in the Lissencephaly with Cerebellar Hypoplasia family:

Lissencephaly 7 with Cerebellar Hypoplasia Lissencephaly with Cerebellar Hypoplasia Type B
Lissencephaly with Cerebellar Hypoplasia Type a Lissencephaly with Cerebellar Hypoplasia Type C

Diseases related to Lissencephaly with Cerebellar Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 cerebellar hypoplasia 30.4 DCX PAFAH1B1 RELN VLDLR
2 lissencephaly 28.0 ARX CDK5 DCX LRP8 PAFAH1B1 RELN
3 lissencephaly 3 12.3
4 lissencephaly with cerebellar hypoplasia type f 12.2
5 lissencephaly with cerebellar hypoplasia type e 12.2
6 lissencephaly with cerebellar hypoplasia type b 12.2
7 lissencephaly with cerebellar hypoplasia type a 12.2
8 lissencephaly with cerebellar hypoplasia type d 12.2
9 lissencephaly with cerebellar hypoplasia type c 12.2
10 langerhans cell histiocytosis 12.1
11 leydig cell hypoplasia 11.8
12 lissencephaly 2 11.2
13 chromosome 17p13.3, centromeric, duplication syndrome 10.4 DCX PAFAH1B1
14 subcortical band heterotopia 10.3 DCX PAFAH1B1
15 band heterotopia 10.3 DCX PAFAH1B1
16 lissencephaly 1 10.2 DCX PAFAH1B1 RELN
17 lissencephaly, x-linked, 1 10.0 ARX DCX PAFAH1B1
18 adult hepatocellular carcinoma 10.0 TSC1 TSC2
19 multilocular clear cell renal cell carcinoma 10.0 TSC1 TSC2
20 physical disorder 10.0 DCX PAFAH1B1 TUBA1A
21 subependymal glioma 10.0 TSC1 TSC2
22 kidney angiomyolipoma 10.0 TSC1 TSC2
23 benign ependymoma 10.0 TSC1 TSC2
24 tuberous sclerosis 1 9.9 TSC1 TSC2
25 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.9
26 focal cortical dysplasia, type ii 9.9 TSC1 TSC2
27 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.9 TSC1 TSC2
28 kidney benign neoplasm 9.9 TSC1 TSC2
29 subependymal giant cell astrocytoma 9.9 TSC1 TSC2
30 infantile epileptic encephalopathy 9.9 ARX TSC2
31 corneal dystrophy, fleck 9.8 TSC1 TSC2
32 tuberous sclerosis 2 9.8 TSC1 TSC2
33 congenital nervous system abnormality 9.8 DCX PAFAH1B1 RELN TUBA1A
34 periventricular nodular heterotopia 9.8 DCX PAFAH1B1 RELN TUBA1A
35 miller-dieker lissencephaly syndrome 9.7 PAFAH1B1 TUBA1A
36 tuberous sclerosis 9.7 DCX TSC1 TSC2
37 angiomyolipoma 9.7 TSC1 TSC2
38 autism spectrum disorder 9.6 RELN TSC1 TSC2
39 neuronal migration disorders 9.6 ARX DCX PAFAH1B1 RELN VLDLR
40 pachygyria 9.5 CDK5 DCX PAFAH1B1 RELN TUBA1A
41 autism 9.4 ARX RELN TSC1 TSC2

Graphical network of the top 20 diseases related to Lissencephaly with Cerebellar Hypoplasia:



Diseases related to Lissencephaly with Cerebellar Hypoplasia

Symptoms & Phenotypes for Lissencephaly with Cerebellar Hypoplasia

UMLS symptoms related to Lissencephaly with Cerebellar Hypoplasia:


seizures, ataxia

MGI Mouse Phenotypes related to Lissencephaly with Cerebellar Hypoplasia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 DAB1 DCX LRP8 PAFAH1B1 RELN TSC1
2 cellular MP:0005384 9.97 ARX DAB1 LRP8 PAFAH1B1 RELN TSC1
3 growth/size/body region MP:0005378 9.96 TUBA1A VLDLR ARX DAB1 DCX LRP8
4 mortality/aging MP:0010768 9.85 ARX CDK5 DAB1 DCX LRP8 PAFAH1B1
5 nervous system MP:0003631 9.7 ARX CDK5 DAB1 DCX LRP8 PAFAH1B1
6 reproductive system MP:0005389 9.23 ARX DAB1 DCX LRP8 PAFAH1B1 RELN

Drugs & Therapeutics for Lissencephaly with Cerebellar Hypoplasia

Search Clinical Trials , NIH Clinical Center for Lissencephaly with Cerebellar Hypoplasia

Genetic Tests for Lissencephaly with Cerebellar Hypoplasia

Anatomical Context for Lissencephaly with Cerebellar Hypoplasia

MalaCards organs/tissues related to Lissencephaly with Cerebellar Hypoplasia:

38
Brain, Spinal Cord, Cerebellum

Publications for Lissencephaly with Cerebellar Hypoplasia

Articles related to Lissencephaly with Cerebellar Hypoplasia:

# Title Authors Year
1
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. ( 25560765 )
2015
2
Identification of a 31-bp deletion in the RELN gene causing lissencephaly with cerebellar hypoplasia in sheep. ( 24260534 )
2013
3
Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype. ( 20376468 )
2010
4
Tigroid pattern of the white matter: a previously unrecognized MR finding in lissencephaly with cerebellar hypoplasia. ( 18521588 )
2008
5
Lissencephaly with agenesis of corpus callosum and rudimentary dysplastic cerebellum: a subtype of lissencephaly with cerebellar hypoplasia. ( 14566414 )
2004
6
Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. ( 11748497 )
2001
7
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. ( 10973257 )
2000

Variations for Lissencephaly with Cerebellar Hypoplasia

ClinVar genetic disease variations for Lissencephaly with Cerebellar Hypoplasia:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 RELN RELN, IVS37AS, G-A, -1 single nucleotide variant Pathogenic
2 RELN RELN, 148-BP DEL deletion Pathogenic
3 TUBA1A NM_006009.3(TUBA1A): c.13A> C (p.Ile5Leu) single nucleotide variant Pathogenic rs387906840 GRCh37 Chromosome 12, 49580607: 49580607
4 RELN NM_005045.3(RELN): c.5193C> A (p.Tyr1731Ter) single nucleotide variant Pathogenic rs587780435 GRCh37 Chromosome 7, 103205742: 103205742
5 RELN NM_005045.3(RELN): c.5195_5208dupTTCCACTCTCCACC (p.Ile1737Phefs) duplication Pathogenic rs587780436 GRCh37 Chromosome 7, 103205727: 103205740
6 RELN NM_005045.3(RELN): c.7490+1G> A single nucleotide variant Pathogenic rs587780437 GRCh37 Chromosome 7, 103163837: 103163837
7 TUBA1A NM_006009.3(TUBA1A): c.1205G> T (p.Arg402Leu) single nucleotide variant Pathogenic rs137853044 GRCh38 Chromosome 12, 49185161: 49185161
8 TUBA1A NM_006009.3(TUBA1A): c.1204C> T (p.Arg402Cys) single nucleotide variant Pathogenic rs587784483 GRCh38 Chromosome 12, 49185162: 49185162
9 TUBA1A NM_006009.3(TUBA1A): c.1148C> T (p.Ala383Val) single nucleotide variant Pathogenic/Likely pathogenic rs587784482 GRCh38 Chromosome 12, 49185218: 49185218
10 TUBA1A NM_006009.3(TUBA1A): c.986A> G (p.Asn329Ser) single nucleotide variant Pathogenic rs587784495 GRCh38 Chromosome 12, 49185380: 49185380
11 TUBA1A NM_006009.3(TUBA1A): c.481T> G (p.Tyr161Asp) single nucleotide variant Pathogenic rs587784488 GRCh38 Chromosome 12, 49185885: 49185885
12 TUBA1A NM_006009.3(TUBA1A): c.5G> A (p.Arg2His) single nucleotide variant Pathogenic/Likely pathogenic rs587784491 GRCh38 Chromosome 12, 49186832: 49186832
13 TUBA1A NM_006009.3(TUBA1A): c.790C> T (p.Arg264Cys) single nucleotide variant Pathogenic rs137853043 GRCh37 Chromosome 12, 49579359: 49579359
14 TUBA1A NM_006009.3(TUBA1A): c.1205G> A (p.Arg402His) single nucleotide variant Pathogenic rs137853044 GRCh37 Chromosome 12, 49578944: 49578944
15 TUBA1A NM_006009.3(TUBA1A): c.562A> C (p.Ile188Leu) single nucleotide variant Pathogenic rs137853045 GRCh37 Chromosome 12, 49579587: 49579587
16 TUBA1A NM_006009.3(TUBA1A): c.787C> A (p.Pro263Thr) single nucleotide variant Pathogenic rs137853046 GRCh37 Chromosome 12, 49579362: 49579362
17 TUBA1A NM_006009.3(TUBA1A): c.1256C> T (p.Ser419Leu) single nucleotide variant Pathogenic rs137853047 GRCh37 Chromosome 12, 49578893: 49578893
18 TUBA1A NM_006009.3(TUBA1A): c.1190T> C (p.Leu397Pro) single nucleotide variant Pathogenic rs137853048 GRCh37 Chromosome 12, 49578959: 49578959
19 TUBA1A NM_006009.3(TUBA1A): c.1264C> T (p.Arg422Cys) single nucleotide variant Pathogenic rs137853049 GRCh37 Chromosome 12, 49578885: 49578885
20 TUBA1A NM_006009.3(TUBA1A): c.1265G> A (p.Arg422His) single nucleotide variant Pathogenic rs137853050 GRCh37 Chromosome 12, 49578884: 49578884
21 TUBA1A NM_006009.3(TUBA1A): c.1226T> C (p.Val409Ala) single nucleotide variant Pathogenic/Likely pathogenic rs797045005 GRCh37 Chromosome 12, 49578923: 49578923
22 TUBA1A NM_006009.3(TUBA1A): c.1224C> A (p.Tyr408Ter) single nucleotide variant Pathogenic rs753719501 GRCh37 Chromosome 12, 49578925: 49578925
23 RELN NM_005045.3(RELN): c.5587C> T (p.Gln1863Ter) single nucleotide variant Pathogenic rs797045915 GRCh37 Chromosome 7, 103198439: 103198439
24 RELN NM_005045.3(RELN): c.329dupT (p.Gly111Argfs) duplication Pathogenic rs797045912 GRCh37 Chromosome 7, 103557530: 103557530
25 RELN NM_005045.3(RELN): c.5969+1G> A single nucleotide variant Pathogenic rs869320767 GRCh37 Chromosome 7, 103194106: 103194106
26 TUBA1A NM_006009.3(TUBA1A): c.641G> A (p.Arg214His) single nucleotide variant Pathogenic rs1057517843 GRCh37 Chromosome 12, 49579508: 49579508

Expression for Lissencephaly with Cerebellar Hypoplasia

Search GEO for disease gene expression data for Lissencephaly with Cerebellar Hypoplasia.

Pathways for Lissencephaly with Cerebellar Hypoplasia

GO Terms for Lissencephaly with Cerebellar Hypoplasia

Cellular components related to Lissencephaly with Cerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.8 CDK5 DCX PAFAH1B1 TSC1 TUBA1A
2 perinuclear region of cytoplasm GO:0048471 9.73 DAB1 PAFAH1B1 TSC1 TSC2
3 neuronal cell body GO:0043025 9.56 CDK5 DAB1 LRP8 PAFAH1B1
4 postsynaptic density GO:0014069 9.54 CDK5 DAB1 LRP8
5 growth cone GO:0030426 9.5 CDK5 PAFAH1B1 TSC1
6 microtubule GO:0005874 9.46 CDK5 DCX PAFAH1B1 TUBA1A
7 TSC1-TSC2 complex GO:0033596 8.96 TSC1 TSC2
8 microtubule associated complex GO:0005875 8.8 DCX LRP8 PAFAH1B1

Biological processes related to Lissencephaly with Cerebellar Hypoplasia according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.91 ARX CDK5 DAB1 DCX PAFAH1B1 TSC1
2 brain development GO:0007420 9.84 DAB1 DCX PAFAH1B1 RELN
3 cell migration GO:0016477 9.81 CDK5 PAFAH1B1 RELN
4 axon guidance GO:0007411 9.81 ARX DAB1 RELN VLDLR
5 endocytosis GO:0006897 9.78 LRP8 TSC2 VLDLR
6 positive regulation of protein kinase activity GO:0045860 9.73 CDK5 DAB1 RELN VLDLR
7 forebrain development GO:0030900 9.72 ARX CDK5 RELN
8 neuron migration GO:0001764 9.72 ARX CDK5 DCX PAFAH1B1 RELN
9 microtubule-based process GO:0007017 9.65 PAFAH1B1 TUBA1A
10 dendrite morphogenesis GO:0048813 9.65 CDK5 DCX VLDLR
11 positive regulation of protein tyrosine kinase activity GO:0061098 9.64 LRP8 RELN
12 negative regulation of TOR signaling GO:0032007 9.64 TSC1 TSC2
13 positive regulation of dendritic spine morphogenesis GO:0061003 9.63 LRP8 PAFAH1B1 RELN
14 negative regulation of insulin receptor signaling pathway GO:0046627 9.62 TSC1 TSC2
15 dendrite development GO:0016358 9.62 DAB1 RELN
16 positive regulation of macroautophagy GO:0016239 9.61 TSC1 TSC2
17 axon extension GO:0048675 9.6 CDK5 DCX
18 associative learning GO:0008306 9.59 CDK5 RELN
19 modulation of chemical synaptic transmission GO:0050804 9.58 LRP8 RELN
20 positive regulation of CREB transcription factor activity GO:0032793 9.58 LRP8 RELN
21 ventral spinal cord development GO:0021517 9.58 DAB1 RELN VLDLR
22 protein localization to synapse GO:0035418 9.57 CDK5 RELN
23 positive regulation of dendrite development GO:1900006 9.56 LRP8 VLDLR
24 hippocampus development GO:0021766 9.55 CDK5 DCX PAFAH1B1 RELN TSC1
25 cerebral cortex tangential migration GO:0021800 9.52 ARX RELN
26 lateral motor column neuron migration GO:0097477 9.49 DAB1 RELN
27 reelin-mediated signaling pathway GO:0038026 9.43 LRP8 RELN VLDLR
28 layer formation in cerebral cortex GO:0021819 9.26 CDK5 DCX PAFAH1B1 RELN
29 cerebral cortex development GO:0021987 9.1 CDK5 DAB1 LRP8 PAFAH1B1 RELN TSC1
30 multicellular organism development GO:0007275 10.03 ARX DAB1 DCX PAFAH1B1 RELN

Molecular functions related to Lissencephaly with Cerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 9.5 CDK5 DCX PAFAH1B1
2 apolipoprotein binding GO:0034185 9.26 LRP8 VLDLR
3 low-density lipoprotein receptor activity GO:0005041 9.16 LRP8 VLDLR
4 very-low-density lipoprotein particle receptor activity GO:0030229 8.96 LRP8 VLDLR
5 reelin receptor activity GO:0038025 8.62 LRP8 VLDLR

Sources for Lissencephaly with Cerebellar Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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