MCID: LSS006
MIFTS: 31

Lissencephaly 2

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

Aliases & Classifications for Lissencephaly 2

MalaCards integrated aliases for Lissencephaly 2:

Name: Lissencephaly 2 53 12 49 71 28 13
Lissencephaly Syndrome, Norman-Roberts Type 53 12 55 69
Norman-Roberts Syndrome 53 12 72 71
Lis2 53 49 71
Lissencephaly Syndrome Norman-Roberts Type 49 71
Norman Roberts Lissencephaly Syndrome 49 41
Lissencephaly with Cerebellar Hypoplasia 71
Microlissencephaly Type a 55
Cobblestone Lissencephaly 69
Type Ii Lissencephaly 28
Lch 71

Characteristics:

Orphanet epidemiological data:

55
lissencephaly syndrome, norman-roberts type
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
lissencephaly 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 257320
Disease Ontology 12 DOID:0060902
ICD10 32 Q04.3
Orphanet 55 ORPHA89844
MESH via Orphanet 42 C537848
UMLS via Orphanet 70 C0796089
ICD10 via Orphanet 33 Q04.3
SNOMED-CT via HPO 65 258211005 271611007 253147000

Summaries for Lissencephaly 2

NIH Rare Diseases : 49 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 langerhans cell histiocytosis and leydig cell hypoplasia, 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 : 71 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 1
Lissencephaly 3 Lissencephaly 4
Lissencephaly 5 Lissencephaly 8

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

# Related Disease Score Top Affiliating Genes
1 langerhans cell histiocytosis 12.1
2 leydig cell hypoplasia 11.8
3 x-linked lissencephaly with abnormal genitalia 11.1
4 muscular dystrophy-dystroglycanopathy , type a, 1 11.0
5 lissencephaly with cerebellar hypoplasia 10.9
6 lissencephaly 10.2
7 blood group, i system 10.0
8 meningitis 9.8

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



Diseases related to Lissencephaly 2

Symptoms & Phenotypes for Lissencephaly 2

Symptoms via clinical synopsis from OMIM:

53
Neuro:
lissencephaly, type i
thick cerebral cortex

Lab:
normal chromosomes

HEENT:
microcephaly
low, sloping forehead
prominent nasal bridge


Clinical features from OMIM:

257320

Human phenotypes related to Lissencephaly 2:

31
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 HP:0000252
2 prominent nasal bridge 31 HP:0000426
3 sloping forehead 31 HP:0000340
4 thick cerebral cortex 31 HP:0006891
5 type i lissencephaly 31 HP:0006818

Drugs & Therapeutics for Lissencephaly 2

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Lissencephaly 2 28 RELN
2 Type Ii Lissencephaly 28

Anatomical Context for Lissencephaly 2

MalaCards organs/tissues related to Lissencephaly 2:

38
Eye, Cerebellum, Skin, Brain, Cortex

Publications for Lissencephaly 2

Articles related to Lissencephaly 2:

# Title Authors Year
1
A case of Norman-Roberts syndrome identified from postnatal diagnosis of microlissencephaly. ( 25927602 )
2015
2
Norman-Roberts syndrome: characterization of the phenotype in early fetal life. ( 17367103 )
2007
3
Report of two Turkish infants with Norman-Roberts syndrome. ( 15083694 )
2004
4
Norman-Roberts syndrome: prenatal diagnosis and autopsy findings. ( 10861718 )
2000
5
Norman-Roberts syndrome: clinical and molecular studies. ( 8368261 )
1993
6
Norman-Roberts syndrome. ( 3377013 )
1988
7
Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly. ( 6476009 )
1984

Variations for Lissencephaly 2

ClinVar genetic disease variations for Lissencephaly 2:

6
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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