LIS2
MCID: LSS006
MIFTS: 30

Lissencephaly 2 (LIS2) malady

Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Skin diseases, Fetal diseases, Muscle diseases categories
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Summaries for Lissencephaly 2

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Sources:
43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: 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:65 Lissencephaly 2, more commonly called Norman?Roberts syndrome, is a rare form of lissencephaly caused by... more...

Description from OMIM:47 257320

Aliases & Classifications for Lissencephaly 2

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Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 63UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
lissencephaly syndrome, norman-roberts type:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

lissencephaly 2 43 20 22 47
lissencephaly syndrome, norman-roberts type 49 62
lissencephaly syndrome norman-roberts type 43
norman roberts lissencephaly syndrome 43
microlissencephaly type a 49
lis2 43


External Ids:

UMLS via Orphanet63 C0796089
OMIM47 257320
MESH via Orphanet36 C537848
ICD10 via Orphanet26 Q04.3

Related Diseases for Lissencephaly 2

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17GeneCards, 18GeneDecks
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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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47OMIM
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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:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Lissencephaly 2

Search NIH Clinical Center for Lissencephaly 2

Genetic Tests for Lissencephaly 2

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20GeneTests, 22GTR
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Genetic tests related to Lissencephaly 2:

id Genetic test Affiliating Genes
1 Lissencephaly 220 22 RELN

Anatomical Context for Lissencephaly 2

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33MalaCards
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MalaCards organs/tissues related to Lissencephaly 2:

33
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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Sources:
2BioGPS, 15Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet