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, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Lissencephaly 2:

Name: Lissencephaly 2 52 48 24 70 27 12
Lissencephaly Syndrome, Norman-Roberts Type 24 54 68
Lis2 48 24 70
Lissencephaly Syndrome Norman-Roberts Type 48 70
Lissencephaly with Cerebellar Hypoplasia 70
 
Norman Roberts Lissencephaly Syndrome 48
Histiocytosis, Langerhans-Cell 68
Microlissencephaly Type a 54
Norman-Roberts Syndrome 70
Lch 70

Characteristics:

Orphanet epidemiological data:

54
lissencephaly syndrome, norman-roberts type:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

64
lissencephaly 2:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 257320
Orphanet54 ORPHA89844
ICD10 via Orphanet31 Q04.3
MESH via Orphanet40 C537848
UMLS via Orphanet69 C0796089
MeSH39 D054082

Summaries for Lissencephaly 2

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NIH Rare Diseases:48 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:70 Lissencephaly 2: A classic type lissencephaly associated with ataxia, mental retardation, seizures and abnormalities of the cerebellum, hippocampus and brainstem.

Description from OMIM:52 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 & Phenotypes 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:

 64
id Description HPO Frequency HPO Source Accession
1 microcephaly64 HP:0000252
2 sloping forehead64 HP:0000340
3 prominent nasal bridge64 HP:0000426
4 type i lissencephaly64 HP:0006818
5 thick cerebral cortex64 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 UMLS68/NDF-RT46:

Genetic Tests for Lissencephaly 2

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Genetic tests related to Lissencephaly 2:

id Genetic test Affiliating Genes
1 Lissencephaly 227 24 RELN
2 Type 2 Lissencephaly27
3 Type Ii Lissencephaly27

Anatomical Context for Lissencephaly 2

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MalaCards organs/tissues related to Lissencephaly 2:

36
Cerebellum, Eye, Skin, Cortex, Brain

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet