LIS2
MCID: LSS006
MIFTS: 29

Lissencephaly 2 (LIS2) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Skin diseases, Fetal diseases, Muscle diseases

Aliases & Classifications for Lissencephaly 2

Aliases & Descriptions for Lissencephaly 2:

Name: Lissencephaly 2 54 12 50 24 66 29 29 13
Lissencephaly Syndrome, Norman-Roberts Type 12 24 56 69
Lis2 50 24 66
Lissencephaly Syndrome Norman-Roberts Type 50 66
Norman Roberts Lissencephaly Syndrome 50 42
Norman-Roberts Syndrome 12 66
Lissencephaly with Cerebellar Hypoplasia 66
Microlissencephaly Type a 56
Lch 66

Characteristics:

Orphanet epidemiological data:

56
lissencephaly syndrome, norman-roberts type
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

HPO:

32
lissencephaly 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 257320
Disease Ontology 12 DOID:0060902
ICD10 33 Q04.3
Orphanet 56 ORPHA89844
ICD10 via Orphanet 34 Q04.3
MESH via Orphanet 43 C537848
UMLS via Orphanet 70 C0796089
UMLS 69 C0796089

Summaries for Lissencephaly 2

NIH Rare Diseases : 50 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 letterer-siwe disease and lissencephaly 1, and has symptoms including microcephaly, prominent nasal bridge and sloping forehead. An important gene associated with Lissencephaly 2 is RELN (Reelin). Affiliated tissues include eye, cerebellum and skin.

Disease Ontology : 12 A lissencephaly that has material basis in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22.

UniProtKB/Swiss-Prot : 66 Lissencephaly 2: A classic type lissencephaly associated with ataxia, mental retardation, seizures and abnormalities of the cerebellum, hippocampus and brainstem.

Description from OMIM: 257320

Related Diseases for Lissencephaly 2

Diseases in the Lissencephaly family:

Lissencephaly 2 Lissencephaly 5
Lissencephaly 3 Lissencephaly 4
Lissencephaly 1 Dcx-Related Lissencephaly
Lissencephaly 8

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

id Related Disease Score Top Affiliating Genes
1 letterer-siwe disease 11.7
2 lissencephaly 1 11.2
3 x-linked lissencephaly with abnormal genitalia 10.9
4 lissencephaly with cerebellar hypoplasia 10.8

Symptoms & Phenotypes for Lissencephaly 2

Symptoms by clinical synopsis from OMIM:

257320

Clinical features from OMIM:

257320

Human phenotypes related to Lissencephaly 2:

32
id Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 prominent nasal bridge 32 HP:0000426
3 sloping forehead 32 HP:0000340
4 thick cerebral cortex 32 HP:0006891
5 type i lissencephaly 32 HP:0006818

Drugs & Therapeutics for Lissencephaly 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Lissencephaly 2

Cochrane evidence based reviews: norman roberts lissencephaly syndrome

Genetic Tests for Lissencephaly 2

Genetic tests related to Lissencephaly 2:

id Genetic test Affiliating Genes
1 Lissencephaly 2 29 24 RELN
2 Type Ii Lissencephaly 29

Anatomical Context for Lissencephaly 2

MalaCards organs/tissues related to Lissencephaly 2:

39
Eye, Cerebellum, Skin, Brain, Cortex

Publications for Lissencephaly 2

Variations for Lissencephaly 2

ClinVar genetic disease variations for Lissencephaly 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RELN RELN, IVS37AS, G-A, -1 single nucleotide variant Pathogenic
2 RELN RELN, 148-BP DEL deletion Pathogenic
3 RELN NM_005045.3(RELN): c.5193C> A (p.Tyr1731Ter) single nucleotide variant Pathogenic rs587780435 GRCh37 Chromosome 7, 103205742: 103205742
4 RELN NM_005045.3(RELN): c.5195_5208dupTTCCACTCTCCACC (p.Ile1737Phefs) duplication Pathogenic rs587780436 GRCh37 Chromosome 7, 103205727: 103205740
5 RELN NM_005045.3(RELN): c.7490+1G> A single nucleotide variant Pathogenic rs587780437 GRCh37 Chromosome 7, 103163837: 103163837
6 RELN NM_005045.3(RELN): c.5587C> T (p.Gln1863Ter) single nucleotide variant Pathogenic rs797045915 GRCh37 Chromosome 7, 103198439: 103198439
7 RELN NM_005045.3(RELN): c.329dupT (p.Gly111Argfs) duplication Pathogenic rs797045912 GRCh37 Chromosome 7, 103557530: 103557530
8 RELN NM_005045.3(RELN): c.5969+1G> A single nucleotide variant Pathogenic rs869320767 GRCh37 Chromosome 7, 103194106: 103194106

Expression for Lissencephaly 2

Search GEO for disease gene expression data for Lissencephaly 2.

Pathways for Lissencephaly 2

GO Terms for Lissencephaly 2

Sources for Lissencephaly 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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