MCID: LSS006
MIFTS: 32

Lissencephaly 2 malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases categories

Aliases & Classifications for Lissencephaly 2

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Aliases & Descriptions for Lissencephaly 2:

Name: Lissencephaly 2 49 11 45 22 24 67
Lis2 45 22 67
Lissencephaly Syndrome Norman-Roberts Type 45 67
Norman Roberts Lissencephaly Syndrome 45 22
 
Lissencephaly Syndrome, Norman-Roberts Type 65
Lissencephaly with Cerebellar Hypoplasia 67
Norman-Roberts Syndrome 67
Lch 67


Classifications:



External Ids:

OMIM49 257320
MeSH36 D054082

Summaries for Lissencephaly 2

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NIH Rare Diseases:45 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 lis2, is related to roberts syndrome and langerhans-cell histiocytosis, 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, cerebellum and cortex.

UniProtKB/Swiss-Prot:67 Lissencephaly 2: A classic type lissencephaly associated with ataxia, mental retardation, seizures and abnormalities of the cerebellum, hippocampus and brainstem.

Description from OMIM:49 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
Lissencephaly Due to Tuba1a Mutation Lissencephaly Type 1 Due to Doublecortin Gene Mutation
Lissencephaly Due to Lis1 Mutation

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

(show top 50)    (show all 86)
idRelated DiseaseScoreTop Affiliating Genes
1roberts syndrome10.8
2langerhans-cell histiocytosis10.7
3histiocytosis10.6
4lissencephaly with cerebellar hypoplasia type f10.5
5lissencephaly with cerebellar hypoplasia type b10.5
6microlissencephaly i10.5
7microlissencephaly10.3
8lissencephaly 110.3
9diabetes insipidus10.2
10interstitial lung disease10.2
11lymphatic system disease10.2
12adult pulmonary langerhans cell histiocytosis10.2
13x-linked lissencephaly with abnormal genitalia10.2
14lymphatic system cancer10.2
15children's interstitial lung disease10.2
16lymphatic neoplasm10.2
17cork-handlers' disease10.1
18pituitary gland disease10.1
19leydig cells hypoplasia10.1
20lissencephaly with cerebellar hypoplasia type e10.1
21lissencephaly with cerebellar hypoplasia type a10.1
22lissencephaly with cerebellar hypoplasia10.0
23factor v deficiency9.9
24peters anomaly9.9
25leydig cell hypoplasia with pseudohermaphroditism9.9
26hepatocellular carcinoma9.9
27diabetes mellitus, noninsulin-dependent9.9
28anemia, sideroblastic, pyridoxine-refractory, autosomal recessive9.9
29pituitary hormone deficiency, combined, 19.9
30renal cell carcinoma9.9
31pituitary hormone deficiency, combined, 29.9
32glucocorticoid therapy, response to9.9
33farber lipogranulomatosis9.9
34pituitary hormone deficiency, combined, 39.9
35interstitial lung and liver disease9.9
36mucolipidosis ii alpha/beta9.9
37pituitary hormone deficiency, combined, 69.9
38pick disease9.9
39immunoglobulin a deficiency 29.9
40growth hormone deficiency, isolated, type ii9.9
41diabetes insipidus, neurohypophyseal9.9
42gastric cancer9.9
43hemangioma9.9
44hematopoietic stem cell transplantation9.9
45lissencephaly9.9
46gout9.9
47spastic diplegia9.9
48folic acid deficiency anemia9.9
49secondary syphilis9.9
50blood platelet disease9.9

Graphical network of the top 20 diseases related to Lissencephaly 2:



Diseases related to lissencephaly 2

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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402

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 222 24 RELN

Anatomical Context for Lissencephaly 2

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MalaCards organs/tissues related to Lissencephaly 2:

33
Eye, Cerebellum, Cortex

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:

5
id Gene Variation 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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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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet