MCID: LSS006
MIFTS: 35

Lissencephaly 2 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Skin diseases, Fetal diseases, Muscle diseases

Aliases & Classifications for Lissencephaly 2

About this section
Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Lissencephaly 2:

Name: Lissencephaly 2 50 46 23 68 25 12
Lissencephaly Syndrome, Norman-Roberts Type 23 52 66
Lis2 46 23 68
Lissencephaly Syndrome Norman-Roberts Type 46 68
Lissencephaly with Cerebellar Hypoplasia 68
 
Norman Roberts Lissencephaly Syndrome 46
Microlissencephaly Type a 52
Norman-Roberts Syndrome 68
Lch 68

Characteristics:

Orphanet epidemiological data:

52
lissencephaly syndrome, norman-roberts type:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

62
lissencephaly 2:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 257320
Orphanet52 ORPHA89844
ICD10 via Orphanet29 Q04.3
MESH via Orphanet38 C537848
UMLS via Orphanet67 C0796089
MeSH37 D054082

Summaries for Lissencephaly 2

About this section
NIH Rare Diseases:46 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. last updated: 1/24/2012

MalaCards based summary: Lissencephaly 2, also known as lissencephaly syndrome, norman-roberts type, is related to langerhans-cell histiocytosis and x-linked lissencephaly with abnormal genitalia, and has symptoms including microcephaly, sloping forehead and prominent nasal bridge. An important gene associated with Lissencephaly 2 is RELN (Reelin), and among its related pathways are Lissencephaly gene (LIS1) in neuronal migration and development and Reelin signaling pathway. Affiliated tissues include cerebellum, eye and skin.

UniProtKB/Swiss-Prot:68 Lissencephaly 2: A classic type lissencephaly associated with ataxia, mental retardation, seizures and abnormalities of the cerebellum, hippocampus and brainstem.

Description from OMIM:50 257320

Related Diseases for Lissencephaly 2

About this section

Graphical network of diseases related to Lissencephaly 2:



Diseases related to lissencephaly 2

Symptoms for Lissencephaly 2

About this section

Symptoms by clinical synopsis from OMIM:

257320

Clinical features from OMIM:

257320

HPO human phenotypes related to Lissencephaly 2:

id Description Frequency HPO Source Accession
1 microcephaly HP:0000252
2 sloping forehead HP:0000340
3 prominent nasal bridge HP:0000426
4 type i lissencephaly HP:0006818
5 thick cerebral cortex HP:0006891

Drugs & Therapeutics for Lissencephaly 2

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402

Search NIH Clinical Center for Lissencephaly 2

Genetic Tests for Lissencephaly 2

About this section

Genetic tests related to Lissencephaly 2:

id Genetic test Affiliating Genes
1 Lissencephaly 225 23 RELN
2 Type 2 Lissencephaly25
3 Type Ii Lissencephaly25

Anatomical Context for Lissencephaly 2

About this section

MalaCards organs/tissues related to Lissencephaly 2:

34
Cerebellum, Eye, Skin, Cortex, Brain

Animal Models for Lissencephaly 2 or affiliated genes

About this section

Publications for Lissencephaly 2

About this section

Variations for Lissencephaly 2

About this section

Clinvar genetic disease variations for Lissencephaly 2:

5
id Gene Variation Type Significance SNP ID Assembly Location
1RELNNM_005045.3(RELN): c.5969+1G> Asingle nucleotide variantPathogenicrs869320767GRCh37Chr 7, 103194106: 103194106
2RELNRELN, IVS37AS, G-A, -1single nucleotide variantPathogenic
3RELNRELN, 148-BP DELdeletionPathogenic

Expression for genes affiliated with Lissencephaly 2

About this section
Search GEO for disease gene expression data for Lissencephaly 2.

Pathways for genes affiliated with Lissencephaly 2

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.1PAFAH1B1, RELN
29.1PAFAH1B1, RELN

GO Terms for genes affiliated with Lissencephaly 2

About this section

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of dendritic spine morphogenesisGO:00610039.6PAFAH1B1, RELN
2cerebral cortex developmentGO:00219879.5PAFAH1B1, RELN
3layer formation in cerebral cortexGO:00218199.5PAFAH1B1, RELN
4hippocampus developmentGO:00217669.2PAFAH1B1, RELN
5neuron migrationGO:00017649.1PAFAH1B1, RELN
6brain developmentGO:00074209.0PAFAH1B1, RELN
7cell migrationGO:00164778.8PAFAH1B1, RELN

Sources for Lissencephaly 2

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet