LIS2
MCID: LSS006
MIFTS: 31

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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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 based summary: Lissencephaly 2, also known as lissencephaly syndrome, norman-roberts type, is related to lissencephaly 1 and lissencephaly with cerebellar hypoplasia, and has symptoms including autosomal recessive inheritance, microcephaly and sloping forehead. An important gene associated with Lissencephaly 2 is RELN (reelin). Affiliated tissues include eye, brain and skin.

Wikipedia:64 Lissencephaly 2, more commonly called Norman?Roberts syndrome, is a rare form of lissencephaly caused by... more...

Description from OMIM:46 257320

Aliases & Classifications for Lissencephaly 2

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Sources:
42NIH Rare Diseases, 21GeneTests, 23GTR, 46OMIM, 48Orphanet, 61UMLS, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Lissencephaly 2, Aliases & Descriptions:

Name: Lissencephaly 2 42 21 23 46
Lissencephaly Syndrome, Norman-Roberts Type 48 61
Norman Roberts Lissencephaly Syndrome 42 61
 
Lissencephaly Syndrome Norman-Roberts Type 42
Microlissencephaly Type a 48
Lis2 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 257320
MESH via Orphanet35 C537848
ICD10 via Orphanet27 Q04.3
UMLS via Orphanet62 C0796089

Related Diseases for Lissencephaly 2

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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
1lissencephaly 110.2
2lissencephaly with cerebellar hypoplasia10.2
3lissencephaly10.1
4x-linked lissencephaly with abnormal genitalia10.0

Symptoms for Lissencephaly 2

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Symptoms by clinical synopsis from OMIM:

257320

Clinical features from OMIM:

257320

HPO human phenotypes related to Lissencephaly 2:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 microcephaly HP:0000252
3 sloping forehead HP:0000340
4 prominent nasal bridge HP:0000426
5 type i lissencephaly HP:0006818
6 thick cerebral cortex HP:0006891

Drugs & Therapeutics for Lissencephaly 2

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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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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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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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Variations for Lissencephaly 2

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Clinvar genetic disease variations for Lissencephaly 2:

7
id Gene Name Type Significance SNP ID Assembly Location
1RELNRELN, IVS37AS, G-A, -1single nucleotide variantPathogenic
2RELNRELN, 148-BP DELdeletionPathogenic

Expression for genes affiliated with Lissencephaly 2

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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
  • Proteins
  • Kits and Assays

Sources for Lissencephaly 2

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet