LCH
MCID: LSS024
MIFTS: 34

Lissencephaly with Cerebellar Hypoplasia (LCH) malady

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

Aliases & Classifications for Lissencephaly with Cerebellar Hypoplasia

Aliases & Descriptions 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 42)
id Related Disease Score Top Affiliating Genes
1 lissencephaly 3 12.2
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 1 11.2
11 lissencephaly 2 11.0
12 leydig cell hypoplasia with pseudohermaphroditism 10.8
13 cerebellar hypoplasia 10.3
14 lissencephaly 10.3
15 deafness and hereditary hearing loss 10.2 DCX PAFAH1B1
16 noonan syndrome 10 10.2 DCX PAFAH1B1
17 right ventricular hypoplasia, isolated 10.2 DCX PAFAH1B1
18 meier-gorlin syndrome 6 10.2 DCX PAFAH1B1
19 superficial spreading melanoma 10.2 DCX PAFAH1B1
20 kcne2-related familial atrial fibrillation 10.1 DCX PAFAH1B1 RELN
21 coloboma of optic nerve 10.1 DCX PAFAH1B1
22 mental retardation, x-linked, syndromic 15 10.0 ARX DCX PAFAH1B1
23 fibrous dysplasia 10.0 DCX PAFAH1B1 TUBA1A
24 lung agenesis 10.0 DCX PAFAH1B1 RELN VLDLR
25 otopalatodigital syndrome, type ii 9.9 DCX PAFAH1B1 RELN TUBA1A
26 melorheostosis with osteopoikilosis 9.9 TSC1 TSC2
27 bartter disease 9.9 DCX RELN TSC2
28 multiple mitochondrial dysfunctions syndrome 1 9.9 TSC1 TSC2
29 renal tubular transport disease 9.9 TSC1 TSC2
30 polycythemia 9.9 TSC1 TSC2
31 pilocytic astrocytoma 9.8 TSC1 TSC2
32 pleomorphic xanthoastrocytoma 9.8 TSC1 TSC2
33 auricular cancer 9.8 TSC1 TSC2
34 palmoplantar keratoderma-sclerodactyly syndrome 9.8 CDK5 DCX PAFAH1B1 RELN TUBA1A
35 focal cortical dysplasia, taylor balloon cell type 9.8 DCX TSC1 TSC2
36 tetanus neonatorum 9.8 DCX TSC1 TSC2
37 gallbladder cancer 9.8 TSC1 TSC2
38 angiodysplasia 9.7 ARX DCX PAFAH1B1 RELN TUBA1A
39 buruli ulcer 9.7 TSC1 TSC2
40 persistent vegetative state 9.6 ARX DCX PAFAH1B1 RELN TUBA1A VLDLR
41 loeys-dietz syndrome 9.1 ARX CDK5 DAB1 DCX LRP8 PAFAH1B1
42 aids - neurological complications 8.6 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 CDK5 DAB1 TSC1 DCX TSC2 LRP8
2 cellular MP:0005384 9.97 RELN DAB1 TSC1 TSC2 LRP8 TUBA1A
3 growth/size/body region MP:0005378 9.96 DAB1 TSC1 DCX TSC2 LRP8 TUBA1A
4 mortality/aging MP:0010768 9.85 CDK5 RELN DAB1 TSC1 DCX TSC2
5 nervous system MP:0003631 9.7 CDK5 DAB1 TSC1 DCX TSC2 LRP8
6 reproductive system MP:0005389 9.23 RELN DAB1 TSC1 DCX TSC2 LRP8

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
Erratum to: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. ( 25609191 )
2015
2
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. ( 25560765 )
2015
3
Identification of a 31-bp deletion in the RELN gene causing lissencephaly with cerebellar hypoplasia in sheep. ( 24260534 )
2013
4
Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype. ( 20376468 )
2010
5
Tigroid pattern of the white matter: a previously unrecognized MR finding in lissencephaly with cerebellar hypoplasia. ( 18521588 )
2008
6
Lissencephaly with agenesis of corpus callosum and rudimentary dysplastic cerebellum: a subtype of lissencephaly with cerebellar hypoplasia. ( 14566414 )
2004
7
Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. ( 11748497 )
2001
8
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 24)
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 GRCh38 Chromosome 12, 49185161: 49185161
16 TUBA1A NM_006009.3(TUBA1A): c.1204C> T (p.Arg402Cys) single nucleotide variant Pathogenic rs587784483 GRCh37 Chromosome 12, 49578945: 49578945
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 GRCh38 Chromosome 12, 49185885: 49185885
19 TUBA1A NM_006009.3(TUBA1A): c.5G> A (p.Arg2His) single nucleotide variant Pathogenic/Likely pathogenic rs587784491 GRCh37 Chromosome 12, 49580615: 49580615
20 TUBA1A NM_006009.3(TUBA1A): c.1226T> C (p.Val409Ala) single nucleotide variant 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

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 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 negative regulation of TOR signaling GO:0032007 9.64 TSC1 TSC2
12 negative regulation of insulin receptor signaling pathway GO:0046627 9.63 TSC1 TSC2
13 positive regulation of dendritic spine morphogenesis GO:0061003 9.63 LRP8 PAFAH1B1 RELN
14 positive regulation of protein tyrosine kinase activity GO:0061098 9.62 LRP8 RELN
15 associative learning GO:0008306 9.62 CDK5 RELN
16 dendrite development GO:0016358 9.61 DAB1 RELN
17 positive regulation of macroautophagy GO:0016239 9.61 TSC1 TSC2
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 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 10.04 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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