MCID: LSS006
MIFTS: 28

Lissencephaly 2 malady

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

Aliases & Classifications for Lissencephaly 2

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Sources:
12diseasecard, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Lissencephaly 2:

Name: Lissencephaly 2 51 47 24 69 26 12
Lissencephaly Syndrome, Norman-Roberts Type 24 53 67
Lis2 47 24 69
Lissencephaly Syndrome Norman-Roberts Type 47 69
Lissencephaly with Cerebellar Hypoplasia 69
 
Norman Roberts Lissencephaly Syndrome 47
Histiocytosis, Langerhans-Cell 67
Microlissencephaly Type a 53
Norman-Roberts Syndrome 69
Lch 69

Characteristics:

Orphanet epidemiological data:

53
lissencephaly syndrome, norman-roberts type:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

63
lissencephaly 2:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 257320
Orphanet53 ORPHA89844
ICD10 via Orphanet30 Q04.3
MESH via Orphanet39 C537848
UMLS via Orphanet68 C0796089
MeSH38 D054082

Summaries for Lissencephaly 2

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NIH Rare Diseases:47 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 lissencephaly 1 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). The drug thalidomide has been mentioned in the context of this disorder. Affiliated tissues include cerebellum, eye and skin.

UniProtKB/Swiss-Prot:69 Lissencephaly 2: A classic type lissencephaly associated with ataxia, mental retardation, seizures and abnormalities of the cerebellum, hippocampus and brainstem.

Description from OMIM:51 257320

Related Diseases for Lissencephaly 2

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Diseases in the Lissencephaly family:

lissencephaly 2 Lissencephaly 5
Lissencephaly 3 Lissencephaly 4
Lissencephaly 1 Dcx-Related Lissencephaly

Diseases related to Lissencephaly 2 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1lissencephaly 111.2
2x-linked lissencephaly with abnormal genitalia10.9
3lissencephaly with cerebellar hypoplasia10.8

Symptoms for Lissencephaly 2

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Symptoms by clinical synopsis from OMIM:

257320

Clinical features from OMIM:

257320

Human phenotypes related to Lissencephaly 2:

 63
id Description HPO Frequency HPO Source Accession
1 microcephaly63 HP:0000252
2 sloping forehead63 HP:0000340
3 prominent nasal bridge63 HP:0000426
4 type i lissencephaly63 HP:0006818
5 thick cerebral cortex63 HP:0006891

Drugs & Therapeutics for Lissencephaly 2

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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 UMLS67/NDF-RT45:

Genetic Tests for Lissencephaly 2

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Genetic tests related to Lissencephaly 2:

id Genetic test Affiliating Genes
1 Lissencephaly 226 24 RELN
2 Type 2 Lissencephaly26
3 Type Ii Lissencephaly26

Anatomical Context for Lissencephaly 2

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MalaCards organs/tissues related to Lissencephaly 2:

35
Cerebellum, Eye, Skin, Cortex, Brain

Animal Models for Lissencephaly 2 or affiliated genes

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Publications for Lissencephaly 2

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Variations for Lissencephaly 2

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Clinvar genetic disease variations for Lissencephaly 2:

5
id Gene Variation Type Significance SNP ID Assembly Location
1RELNNM_005045.3(RELN): c.5969+1G> ASNVPathogenicrs869320767GRCh37Chr 7, 103194106: 103194106
2RELNRELN, IVS37AS, G-A, -1SNVPathogenicChr na, -1: -1
3RELNRELN, 148-BP DELdeletionPathogenicChr na, -1: -1

Expression for genes affiliated with Lissencephaly 2

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Search GEO for disease gene expression data for Lissencephaly 2.

Pathways for genes affiliated with Lissencephaly 2

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GO Terms for genes affiliated with Lissencephaly 2

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Sources for Lissencephaly 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet