LIS2
MCID: LSS006
MIFTS: 29

Lissencephaly 2 (LIS2) malady

Neuronal diseases, Cardiovascular diseases, Skin diseases, Fetal diseases categories

Summaries for Lissencephaly 2

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Sources:
42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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. An important gene associated with Lissencephaly 2 is RELN (reelin). Affiliated tissues include eye, brain and skin.

Wikipedia:63 Lissencephaly 2, more commonly called Norman–Roberts syndrome, is a rare form of lissencephaly caused... more...

Description from OMIM:46 257320

Aliases & Classifications for Lissencephaly 2

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 61UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
lissencephaly syndrome, norman-roberts type:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

lissencephaly 2 42 20 22 46
lissencephaly syndrome, norman-roberts type 48 60
lissencephaly syndrome norman-roberts type 42
norman roberts lissencephaly syndrome 42
microlissencephaly type a 48
lis2 42


External Ids:

UMLS via Orphanet61 C0796089
OMIM46 257320
MESH via Orphanet35 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 i10.4
2lissencephaly10.0
3lissencephaly 110.0
4partial lissencephaly10.0
5lissencephaly with cerebellar hypoplasia10.0
6x-linked lissencephaly with abnormal genitalia10.0

Graphical network of diseases related to Lissencephaly 2:



Diseases related to lissencephaly 2

Clinical Features for Lissencephaly 2

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46OMIM
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Clinical features from OMIM:

257320

Clinical synopsis from OMIM:

257320

Drugs & Therapeutics for Lissencephaly 2

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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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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Sources:
32MalaCards
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MalaCards organs/tissues related to Lissencephaly 2:

32
Eye, Brain, Skin

Animal Models for Lissencephaly 2 or affiliated genes

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Publications for Lissencephaly 2

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Genetic Variations for Lissencephaly 2

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Expression for genes affiliated with Lissencephaly 2

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Sources:
1BioGPS, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet