MCID: LSS024
MIFTS: 34

Lissencephaly with Cerebellar Hypoplasia

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

Aliases & Classifications for Lissencephaly with Cerebellar Hypoplasia

MalaCards integrated aliases for Lissencephaly with Cerebellar Hypoplasia:

Name: Lissencephaly with Cerebellar Hypoplasia 25
Lissencephaly Syndrome, Norman-Roberts Type 25 69
Lissencephaly 3 25 69
Norman-Roberts Syndrome 25
Lissencephaly 2 25
Lis2 25
Lis3 25
Lch 25

Classifications:



Summaries for Lissencephaly with Cerebellar Hypoplasia

Genetics Home Reference : 25 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 lissencephaly 3 and lissencephaly with cerebellar hypoplasia type f, and has symptoms including ataxia and seizures. 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 43)
id Related Disease Score Top Affiliating Genes
1 lissencephaly 3 12.1
2 lissencephaly with cerebellar hypoplasia type f 12.1
3 lissencephaly with cerebellar hypoplasia type e 12.1
4 lissencephaly with cerebellar hypoplasia type b 12.1
5 lissencephaly with cerebellar hypoplasia type a 12.1
6 lissencephaly with cerebellar hypoplasia type d 12.1
7 lissencephaly with cerebellar hypoplasia type c 12.1
8 letterer-siwe disease 11.7
9 leydig cell hypoplasia 11.6
10 lissencephaly 2 11.0
11 subpulmonary stenosis 10.5 DCX PAFAH1B1
12 anemia, sideroblastic, 3, pyridoxine-refractory 10.5 DCX PAFAH1B1
13 coloboma of optic nerve 10.3 DCX PAFAH1B1
14 moved to 155310 10.3 PAFAH1B1 RELN VLDLR
15 cerebellar hypoplasia 10.3
16 lissencephaly 10.3
17 itgb4-related epidermolysis bullosa with pyloric atresia 10.3 DCX PAFAH1B1 RELN
18 tn polyagglutination syndrome, somatic 10.1 ARX DCX PAFAH1B1
19 buschke-ollendorff syndrome 10.1 TSC1 TSC2
20 focal cortical dysplasia, type ii, somatic 10.0 TSC1 TSC2
21 lissencephaly 1 10.0 PAFAH1B1 TUBA1A
22 shwachman-diamond type metaphyseal dysplasia 10.0 DCX PAFAH1B1 TUBA1A
23 clear cell adenocarcinoma 10.0 TSC1 TSC2
24 cauda equina intradural extramedullary astrocytoma 10.0 TSC1 TSC2
25 colloid adenoma 10.0 TSC1 TSC2
26 cauda equina neoplasm 10.0 TSC1 TSC2
27 lymphangioleiomyomatosis 10.0 TSC1 TSC2
28 sensory peripheral neuropathy 9.9 ARX TSC2
29 gallbladder papillomatosis 9.9 TSC1 TSC2
30 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.9 TSC1 TSC2
31 mixed epithelial stromal tumour 9.9 TSC1 TSC2
32 buruli ulcer 9.9 TSC1 TSC2
33 otopalatodigital syndrome, type ii 9.8 DCX PAFAH1B1 RELN TUBA1A
34 tetanus neonatorum 9.7 DCX TSC1 TSC2
35 gangliosidosis gm2 9.6 TSC1 TSC2
36 overuse syndrome 9.5 ARX DCX PAFAH1B1 RELN VLDLR
37 sexual disorder 9.4 RELN TSC1 TSC2
38 painful legs and moving toes syndrome 9.4 CDK5 DCX PAFAH1B1 RELN TUBA1A
39 sternum cancer 9.4 TSC1 TSC2
40 angiodysplasia 9.3 ARX DCX PAFAH1B1 RELN TUBA1A
41 autoimmune-related retinopathy and optic neuropathy 9.1 DCX RELN TSC1 TSC2 VLDLR
42 antley-bixler syndrome 7.8 ARX CDK5 DCX LRP8 PAFAH1B1 RELN
43 recombinant 8 syndrome 6.2 ARX CDK5 DAB1 DCX LRP8 PAFAH1B1

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:


ataxia, seizures

MGI Mouse Phenotypes related to Lissencephaly with Cerebellar Hypoplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 DCX TSC2 LRP8 TUBA1A VLDLR PAFAH1B1
2 cellular MP:0005384 9.97 DAB1 TSC1 TSC2 TUBA1A LRP8 PAFAH1B1
3 growth/size/body region MP:0005378 9.96 DCX TSC2 LRP8 TUBA1A PAFAH1B1 ARX
4 mortality/aging MP:0010768 9.85 DAB1 TSC1 DCX TSC2 LRP8 PAFAH1B1
5 nervous system MP:0003631 9.7 DCX TSC2 LRP8 TUBA1A VLDLR PAFAH1B1
6 reproductive system MP:0005389 9.23 TSC1 DCX TSC2 LRP8 PAFAH1B1 ARX

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:

39
Brain, Spinal Cord, Cerebellum

Publications for Lissencephaly with Cerebellar Hypoplasia

Articles related to Lissencephaly with Cerebellar Hypoplasia:

id 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 25)
id Gene Variation Type Significance SNP ID Assembly Location
1 TUBA1A NM_006009.3(TUBA1A): c.790C> T (p.Arg264Cys) single nucleotide variant Pathogenic rs137853043 GRCh37 Chromosome 12, 49579359: 49579359
2 TUBA1A NM_006009.3(TUBA1A): c.1205G> A (p.Arg402His) single nucleotide variant Pathogenic rs137853044 GRCh37 Chromosome 12, 49578944: 49578944
3 TUBA1A NM_006009.3(TUBA1A): c.562A> C (p.Ile188Leu) single nucleotide variant Pathogenic rs137853045 GRCh37 Chromosome 12, 49579587: 49579587
4 TUBA1A NM_006009.3(TUBA1A): c.787C> A (p.Pro263Thr) single nucleotide variant Pathogenic rs137853046 GRCh37 Chromosome 12, 49579362: 49579362
5 TUBA1A NM_006009.3(TUBA1A): c.1256C> T (p.Ser419Leu) single nucleotide variant Pathogenic rs137853047 GRCh37 Chromosome 12, 49578893: 49578893
6 TUBA1A NM_006009.3(TUBA1A): c.1190T> C (p.Leu397Pro) single nucleotide variant Pathogenic rs137853048 GRCh37 Chromosome 12, 49578959: 49578959
7 TUBA1A NM_006009.3(TUBA1A): c.1264C> T (p.Arg422Cys) single nucleotide variant Pathogenic rs137853049 GRCh37 Chromosome 12, 49578885: 49578885
8 TUBA1A NM_006009.3(TUBA1A): c.1265G> A (p.Arg422His) single nucleotide variant Pathogenic rs137853050 GRCh37 Chromosome 12, 49578884: 49578884
9 RELN RELN, IVS37AS, G-A, -1 single nucleotide variant Pathogenic
10 RELN RELN, 148-BP DEL deletion Pathogenic
11 TUBA1A NM_006009.3(TUBA1A): c.13A> C (p.Ile5Leu) single nucleotide variant Pathogenic rs387906840 GRCh37 Chromosome 12, 49580607: 49580607
12 RELN NM_005045.3(RELN): c.5193C> A (p.Tyr1731Ter) single nucleotide variant Pathogenic rs587780435 GRCh37 Chromosome 7, 103205742: 103205742
13 RELN NM_005045.3(RELN): c.5195_5208dupTTCCACTCTCCACC (p.Ile1737Phefs) duplication Pathogenic rs587780436 GRCh37 Chromosome 7, 103205727: 103205740
14 RELN NM_005045.3(RELN): c.7490+1G> A single nucleotide variant Pathogenic rs587780437 GRCh37 Chromosome 7, 103163837: 103163837
15 TUBA1A NM_006009.3(TUBA1A): c.1205G> T (p.Arg402Leu) single nucleotide variant Pathogenic rs137853044 GRCh37 Chromosome 12, 49578944: 49578944
16 TUBA1A NM_006009.3(TUBA1A): c.1204C> T (p.Arg402Cys) single nucleotide variant Pathogenic rs587784483 GRCh38 Chromosome 12, 49185162: 49185162
17 TUBA1A NM_006009.3(TUBA1A): c.1148C> T (p.Ala383Val) single nucleotide variant Pathogenic/Likely pathogenic rs587784482 GRCh38 Chromosome 12, 49185218: 49185218
18 TUBA1A NM_006009.3(TUBA1A): c.481T> G (p.Tyr161Asp) single nucleotide variant Pathogenic rs587784488 GRCh37 Chromosome 12, 49579668: 49579668
19 TUBA1A NM_006009.3(TUBA1A): c.5G> A (p.Arg2His) single nucleotide variant Pathogenic/Likely pathogenic rs587784491 GRCh38 Chromosome 12, 49186832: 49186832
20 TUBA1A NM_006009.3(TUBA1A): c.1226T> C (p.Val409Ala) single nucleotide variant Pathogenic/Likely pathogenic rs797045005 GRCh37 Chromosome 12, 49578923: 49578923
21 TUBA1A NM_006009.3(TUBA1A): c.1224C> A (p.Tyr408Ter) single nucleotide variant Pathogenic rs753719501 GRCh37 Chromosome 12, 49578925: 49578925
22 RELN NM_005045.3(RELN): c.5587C> T (p.Gln1863Ter) single nucleotide variant Pathogenic rs797045915 GRCh37 Chromosome 7, 103198439: 103198439
23 RELN NM_005045.3(RELN): c.329dupT (p.Gly111Argfs) duplication Pathogenic rs797045912 GRCh37 Chromosome 7, 103557530: 103557530
24 RELN NM_005045.3(RELN): c.5969+1G> A single nucleotide variant Pathogenic rs869320767 GRCh37 Chromosome 7, 103194106: 103194106
25 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:

id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.77 CDK5 DCX PAFAH1B1 TSC1 TUBA1A
2 perinuclear region of cytoplasm GO:0048471 9.71 DAB1 PAFAH1B1 TSC1 TSC2
3 postsynaptic density GO:0014069 9.5 CDK5 DAB1 LRP8
4 neuronal cell body GO:0043025 9.46 CDK5 DAB1 LRP8 PAFAH1B1
5 growth cone GO:0030426 9.43 CDK5 PAFAH1B1 TSC1
6 TSC1-TSC2 complex GO:0033596 8.96 TSC1 TSC2
7 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)
id 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 9.77 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 microtubule-based process GO:0007017 9.65 PAFAH1B1 TUBA1A
9 dendrite morphogenesis GO:0048813 9.65 CDK5 DCX VLDLR
10 neuron migration GO:0001764 9.65 ARX CDK5 DCX PAFAH1B1 RELN
11 positive regulation of protein tyrosine kinase activity GO:0061098 9.64 LRP8 RELN
12 negative regulation of TOR signaling GO:0032007 9.63 TSC1 TSC2
13 positive regulation of dendritic spine morphogenesis GO:0061003 9.63 LRP8 PAFAH1B1 RELN
14 dendrite development GO:0016358 9.62 DAB1 RELN
15 negative regulation of insulin receptor signaling pathway GO:0046627 9.62 TSC1 TSC2
16 positive regulation of macroautophagy GO:0016239 9.61 TSC1 TSC2
17 associative learning GO:0008306 9.61 CDK5 RELN
18 axon extension GO:0048675 9.59 CDK5 DCX
19 modulation of 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 positive regulation of dendrite development GO:1900006 9.57 LRP8 VLDLR
23 protein localization to synapse GO:0035418 9.56 CDK5 RELN
24 hippocampus development GO:0021766 9.55 CDK5 DCX PAFAH1B1 RELN TSC1
25 cerebral cortex tangential migration GO:0021800 9.52 ARX RELN
26 reelin-mediated signaling pathway GO:0038026 9.5 LRP8 RELN VLDLR
27 lateral motor column neuron migration GO:0097477 9.49 DAB1 RELN
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:

id Name GO ID Score Top Affiliating Genes
1 apolipoprotein binding GO:0034185 9.26 LRP8 VLDLR
2 low-density lipoprotein receptor activity GO:0005041 9.16 LRP8 VLDLR
3 very-low-density lipoprotein particle receptor activity GO:0030229 8.96 LRP8 VLDLR
4 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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