MCID: LSS006
MIFTS: 32

Lissencephaly 2 malady

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

Aliases & Classifications for Lissencephaly 2

About this section
Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 67UniProtKB/Swiss-Prot, 24GTR, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Lissencephaly 2:

Name: Lissencephaly 2 49 11 45 22 67 24
Lissencephaly Syndrome, Norman-Roberts Type 22 51 65
Lis2 45 22 67
Lissencephaly Syndrome Norman-Roberts Type 45 67
Lissencephaly with Cerebellar Hypoplasia 67
 
Norman Roberts Lissencephaly Syndrome 45
Histiocytosis, Langerhans-Cell 65
Microlissencephaly Type a 51
Norman-Roberts Syndrome 67
Lch 67

Characteristics:

Orphanet epidemiological data:

51
lissencephaly syndrome, norman-roberts type:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

61
lissencephaly 2:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 257320
Orphanet51 89844
ICD10 via Orphanet28 Q04.3
MESH via Orphanet37 C537848
UMLS via Orphanet66 C0796089
MeSH36 D054082
UMLS65 C0796089

Summaries for Lissencephaly 2

About this section
NIH Rare Diseases:45 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 thick cerebral cortex, type i lissencephaly 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. The drug thalidomide has been mentioned in the context of this disorder. Affiliated tissues include eye, cerebellum and brain.

UniProtKB/Swiss-Prot:67 Lissencephaly 2: A classic type lissencephaly associated with ataxia, mental retardation, seizures and abnormalities of the cerebellum, hippocampus and brainstem.

Description from OMIM:49 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 thick cerebral cortex HP:0006891
2 type i lissencephaly HP:0006818
3 prominent nasal bridge HP:0000426
4 sloping forehead HP:0000340
5 microcephaly HP:0000252

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

Inferred drug relations via UMLS65/NDF-RT43:

Genetic Tests for Lissencephaly 2

About this section

Genetic tests related to Lissencephaly 2:

id Genetic test Affiliating Genes
1 Lissencephaly 222 RELN

Anatomical Context for Lissencephaly 2

About this section

MalaCards organs/tissues related to Lissencephaly 2:

33
Eye, Cerebellum, Brain, Cortex, Skin, Temporal lobe

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
1RELNNG_011877.1: g.440858G> Asingle nucleotide variantPathogenicGRCh37Chr 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:

idNameGO IDScoreTop Affiliating Genes
1layer formation in cerebral cortexGO:00218199.1PAFAH1B1, RELN
2positive regulation of dendritic spine morphogenesisGO:00610038.8PAFAH1B1, RELN

Sources for Lissencephaly 2

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet