LIS2
MCID: LSS006
MIFTS: 30

Lissencephaly 2 (LIS2) malady

Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Skin diseases, Fetal diseases, Muscle diseases categories

Summaries for Lissencephaly 2

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Sources:
44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Lissencephaly 2Ā 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.Ā mutations in the reln gene have been identified in some affected individuals. last updated: 1/24/2012

MalaCards: Lissencephaly 2, also known as lissencephaly syndrome, norman-roberts type, is related to microlissencephaly i and lissencephaly 1. An important gene associated with Lissencephaly 2 is RELN (reelin). Affiliated tissues include eye, brain and skin.

Wikipedia:66 Lissencephaly 2, more commonly called Norman?Roberts syndrome, is a rare form of lissencephaly caused by... more...

Description from OMIM:48 257320

Aliases & Classifications for Lissencephaly 2

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Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 64UMLS via Orphanet, 37MESH via Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
lissencephaly syndrome, norman-roberts type:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

lissencephaly 2 44 21 23 48
lissencephaly syndrome, norman-roberts type 50 63
lissencephaly syndrome norman-roberts type 44
norman roberts lissencephaly syndrome 44
microlissencephaly type a 50
lis2 44


External Ids:

UMLS via Orphanet64 C0796089
OMIM48 257320
MESH via Orphanet37 C537848
ICD10 via Orphanet27 Q04.3

Related Diseases for Lissencephaly 2

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18GeneCards, 19GeneDecks
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Diseases in the Lissencephaly 1 family:

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

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

idRelated DiseaseScoreTop Affiliating Genes
1microlissencephaly i10.5
2lissencephaly 110.2
3lissencephaly10.0
4massa casaer ceulemans syndrome10.0
5isolated 17-linked lissencephaly10.0
6dcx-related lissencephaly10.0
7lissencephaly with cerebellar hypoplasia10.0
8x-linked lissencephaly with abnormal genitalia10.0

Graphical network of diseases related to Lissencephaly 2:



Diseases related to lissencephaly 2

Symptoms for Lissencephaly 2

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48OMIM
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Symptoms by clinical synopsis from OMIM:

257320

Clinical features from OMIM:

257320

Drugs & Therapeutics for Lissencephaly 2

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Lissencephaly 2

Drug clinical trials:

Search ClinicalTrials for Lissencephaly 2

Search NIH Clinical Center for Lissencephaly 2

Search CenterWatch for Lissencephaly 2

Genetic Tests for Lissencephaly 2

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21GeneTests, 23GTR
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Genetic tests related to Lissencephaly 2:

id Genetic test Affiliating Genes
1 Lissencephaly 221 23 RELN

Anatomical Context for Lissencephaly 2

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34MalaCards
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MalaCards organs/tissues related to Lissencephaly 2:

34
Eye, Brain, Skin

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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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Lissencephaly 2:

1
id Gene Name Type Significance SNP ID Assembly Location
1RELNRELN, IVS37AS, G-A, -1single nucleotide variantPathogenic/card/lissencephaly_2
2RELNRELN, 148-BP DELdeletionPathogenic/card/lissencephaly_2

Expression for genes affiliated with Lissencephaly 2

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Lissencephaly 2

Search GEO for disease gene expression data for Lissencephaly 2.

Pathways for genes affiliated with Lissencephaly 2

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Compounds for genes affiliated with Lissencephaly 2

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GO Terms for genes affiliated with Lissencephaly 2

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Products for genes affiliated with Lissencephaly 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lissencephaly 2

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet