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LIS2
MCID: LSS006
MIFTS: 38

Lissencephaly 2 (LIS2)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Lissencephaly 2

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MalaCards integrated aliases for Lissencephaly 2:

Name: Lissencephaly 2 57 12 53 75 29 13 6
Norman-Roberts Syndrome 57 12 76 75 15
Lissencephaly Syndrome, Norman-Roberts Type 57 12 59 73
Lis2 57 53 75
Lissencephaly Syndrome Norman-Roberts Type 53 75
Norman Roberts Lissencephaly Syndrome 53 44
Lissencephaly with Cerebellar Hypoplasia 75
Normanroberts Lissencephaly Syndrome 76
Microlissencephaly Type a 59
Cobblestone Lissencephaly 73
Type Ii Lissencephaly 29
Lissencephaly, Type 2 40
Lch 75

Characteristics:

Orphanet epidemiological data:

59
lissencephaly syndrome, norman-roberts type
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
lissencephaly 2:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Cardiovascular diseases Skin diseases Mental diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare circulatory system diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 57 257320
Disease Ontology 12 DOID:0060902
Orphanet 59 ORPHA89844
ICD10 via Orphanet 34 Q04.3
MESH via Orphanet 45 C537848
UMLS via Orphanet 74 C0796089
SNOMED-CT via HPO 69 258211005 271611007 253147000
Sources

Summaries for Lissencephaly 2

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NIH Rare Diseases : 53 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.

MalaCards based summary : Lissencephaly 2, also known as norman-roberts syndrome, is related to lissencephaly with cerebellar hypoplasia and lissencephaly. An important gene associated with Lissencephaly 2 is RELN (Reelin). Affiliated tissues include eye, cerebellum and skin, and related phenotypes are microcephaly and prominent nasal bridge

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

UniProtKB/Swiss-Prot : 75 Lissencephaly 2: A classic type lissencephaly associated with ataxia, mental retardation, seizures and abnormalities of the cerebellum, hippocampus and brainstem.

Wikipedia : 76 Lissencephaly 2, more commonly called Norman�??Roberts syndrome, is a rare form of microlissencephaly... more...

Description from OMIM: 257320
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Related Diseases for Lissencephaly 2

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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:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 lissencephaly with cerebellar hypoplasia 31.5 ARX RELN
2 lissencephaly 29.8 ARX NDE1 RELN
3 lissencephaly with cerebellar hypoplasia type f 12.3
4 lissencephaly with cerebellar hypoplasia type e 12.3
5 lissencephaly with cerebellar hypoplasia type b 12.3
6 lissencephaly with cerebellar hypoplasia type a 12.3
7 lissencephaly with cerebellar hypoplasia type d 12.3
8 lissencephaly with cerebellar hypoplasia type c 12.3
9 langerhans cell histiocytosis 12.3
10 leydig cell hypoplasia 12.0
11 x-linked lissencephaly with abnormal genitalia 11.3
12 lissencephaly 5 11.2
13 letterer-siwe disease 11.2
14 muscular dystrophy-dystroglycanopathy , type a, 1 11.1
15 fukuyama type muscular dystrophy 11.1
16 congenital muscular alpha-dystroglycanopathy with brain and eye anomalies 11.1
17 leydig cell hypoplasia, type i 11.0
18 hashimoto-pritzker syndrome 11.0
19 histiocytosis 10.7
20 roberts syndrome 10.6
21 microlissencephaly 10.2
22 diabetes insipidus 10.2
23 lissencephaly 1 10.1
24 renal cell carcinoma, nonpapillary 9.9
25 cerebellar hypoplasia 9.9
26 hemangioma 9.9
27 hemophagocytic lymphohistiocytosis 9.9
28 morbid obesity 9.9
29 capillary hemangioma 9.9
30 central nervous system disease 9.9
31 nervous system disease 9.9
32 evans' syndrome 9.9
33 hypopituitarism 9.9
34 pyogenic granuloma 9.9
35 hydranencephaly 9.9 ARX NDE1
36 neuronal migration disorders 9.9 ARX RELN
37 congenital nervous system abnormality 9.8 NDE1 RELN
38 epilepsy, familial temporal lobe, 7 9.7 LOC101927870 LOC105375435 RELN

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



Diseases related to Lissencephaly 2
Sources

Symptoms & Phenotypes for Lissencephaly 2

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Symptoms via clinical synopsis from OMIM:

57
H E E N T:
microcephaly
prominent nasal bridge
low, sloping forehead

Lab:
normal chromosomes

Neuro:
thick cerebral cortex
lissencephaly, type i


Clinical features from OMIM:

257320

Human phenotypes related to Lissencephaly 2:

32
# 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
Sources

Drugs & Therapeutics for Lissencephaly 2

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Search Clinical Trials , NIH Clinical Center for Lissencephaly 2

Cochrane evidence based reviews: norman roberts lissencephaly syndrome

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Genetic Tests for Lissencephaly 2

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Genetic tests related to Lissencephaly 2:

# Genetic test Affiliating Genes
1 Lissencephaly 2 29 RELN
2 Type Ii Lissencephaly 29
Sources

Anatomical Context for Lissencephaly 2

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MalaCards organs/tissues related to Lissencephaly 2:

41
Eye, Cerebellum, Skin, Brain, Cortex, Temporal Lobe
Sources

Publications for Lissencephaly 2

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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
Sources

Variations for Lissencephaly 2

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ClinVar genetic disease variations for Lissencephaly 2:

6 (show top 50) (show all 562)
# 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.10074A> G (p.Ala3358=) single nucleotide variant Benign rs1062831 GRCh37 Chromosome 7, 103124207: 103124207
4 RELN NM_005045.3(RELN): c.10074A> G (p.Ala3358=) single nucleotide variant Benign rs1062831 GRCh38 Chromosome 7, 103483760: 103483760
5 RELN NM_005045.3(RELN): c.1290-3dupT duplication Benign/Likely benign rs146986040 GRCh37 Chromosome 7, 103301977: 103301977
6 RELN NM_005045.3(RELN): c.1290-3dupT duplication Benign/Likely benign rs146986040 GRCh38 Chromosome 7, 103661530: 103661530
7 RELN NM_005045.3(RELN): c.139G> A (p.Glu47Lys) single nucleotide variant Uncertain significance rs139648092 GRCh37 Chromosome 7, 103629665: 103629665
8 RELN NM_005045.3(RELN): c.139G> A (p.Glu47Lys) single nucleotide variant Uncertain significance rs139648092 GRCh38 Chromosome 7, 103989218: 103989218
9 RELN NM_005045.3(RELN): c.1596G> A (p.Gln532=) single nucleotide variant Benign/Likely benign rs41276154 GRCh37 Chromosome 7, 103293165: 103293165
10 RELN NM_005045.3(RELN): c.1596G> A (p.Gln532=) single nucleotide variant Benign/Likely benign rs41276154 GRCh38 Chromosome 7, 103652718: 103652718
11 RELN NM_005045.3(RELN): c.1799C> T (p.Ser600Phe) single nucleotide variant Benign rs78008536 GRCh37 Chromosome 7, 103292201: 103292201
12 RELN NM_005045.3(RELN): c.1799C> T (p.Ser600Phe) single nucleotide variant Benign rs78008536 GRCh38 Chromosome 7, 103651754: 103651754
13 RELN NM_005045.3(RELN): c.2376T> C (p.Gly792=) single nucleotide variant Conflicting interpretations of pathogenicity rs398124191 GRCh37 Chromosome 7, 103275961: 103275961
14 RELN NM_005045.3(RELN): c.2376T> C (p.Gly792=) single nucleotide variant Conflicting interpretations of pathogenicity rs398124191 GRCh38 Chromosome 7, 103635514: 103635514
15 RELN NM_005045.3(RELN): c.26A> C (p.Gln9Pro) single nucleotide variant Benign/Likely benign rs115165703 GRCh37 Chromosome 7, 103629778: 103629778
16 RELN NM_005045.3(RELN): c.26A> C (p.Gln9Pro) single nucleotide variant Benign/Likely benign rs115165703 GRCh38 Chromosome 7, 103989331: 103989331
17 RELN NM_005045.3(RELN): c.3651C> G (p.Ile1217Met) single nucleotide variant Conflicting interpretations of pathogenicity rs56342240 GRCh37 Chromosome 7, 103234828: 103234828
18 RELN NM_005045.3(RELN): c.3651C> G (p.Ile1217Met) single nucleotide variant Conflicting interpretations of pathogenicity rs56342240 GRCh38 Chromosome 7, 103594381: 103594381
19 RELN NM_005045.3(RELN): c.3839G> A (p.Gly1280Glu) single nucleotide variant Benign/Likely benign rs55689103 GRCh37 Chromosome 7, 103234202: 103234202
20 RELN NM_005045.3(RELN): c.3839G> A (p.Gly1280Glu) single nucleotide variant Benign/Likely benign rs55689103 GRCh38 Chromosome 7, 103593755: 103593755
21 RELN NM_005045.3(RELN): c.4337A> G (p.Asn1446Ser) single nucleotide variant Uncertain significance rs115577014 GRCh37 Chromosome 7, 103214713: 103214713
22 RELN NM_005045.3(RELN): c.4337A> G (p.Asn1446Ser) single nucleotide variant Uncertain significance rs115577014 GRCh38 Chromosome 7, 103574266: 103574266
23 RELN NM_005045.3(RELN): c.474-7T> C single nucleotide variant Conflicting interpretations of pathogenicity rs55693709 GRCh37 Chromosome 7, 103417081: 103417081
24 RELN NM_005045.3(RELN): c.474-7T> C single nucleotide variant Conflicting interpretations of pathogenicity rs55693709 GRCh38 Chromosome 7, 103776634: 103776634
25 RELN NM_005045.3(RELN): c.5643G> A (p.Leu1881=) single nucleotide variant Conflicting interpretations of pathogenicity rs141387255 GRCh37 Chromosome 7, 103197578: 103197578
26 RELN NM_005045.3(RELN): c.5643G> A (p.Leu1881=) single nucleotide variant Conflicting interpretations of pathogenicity rs141387255 GRCh38 Chromosome 7, 103557131: 103557131
27 RELN NM_005045.3(RELN): c.5711C> T (p.Thr1904Met) single nucleotide variant Uncertain significance rs114190729 GRCh37 Chromosome 7, 103197510: 103197510
28 RELN NM_005045.3(RELN): c.5711C> T (p.Thr1904Met) single nucleotide variant Uncertain significance rs114190729 GRCh38 Chromosome 7, 103557063: 103557063
29 RELN NM_005045.3(RELN): c.578-3T> C single nucleotide variant Benign rs607755 GRCh37 Chromosome 7, 103389954: 103389954
30 RELN NM_005045.3(RELN): c.578-3T> C single nucleotide variant Benign rs607755 GRCh38 Chromosome 7, 103749507: 103749507
31 RELN NM_005045.3(RELN): c.6084C> T (p.Gly2028=) single nucleotide variant Conflicting interpretations of pathogenicity rs114019779 GRCh37 Chromosome 7, 103191732: 103191732
32 RELN NM_005045.3(RELN): c.6084C> T (p.Gly2028=) single nucleotide variant Conflicting interpretations of pathogenicity rs114019779 GRCh38 Chromosome 7, 103551285: 103551285
33 RELN NM_005045.3(RELN): c.6647G> A (p.Arg2216Gln) single nucleotide variant Uncertain significance rs200010849 GRCh37 Chromosome 7, 103183202: 103183202
34 RELN NM_005045.3(RELN): c.6647G> A (p.Arg2216Gln) single nucleotide variant Uncertain significance rs200010849 GRCh38 Chromosome 7, 103542755: 103542755
35 RELN NM_005045.3(RELN): c.7110T> C (p.Val2370=) single nucleotide variant Benign/Likely benign rs362746 GRCh37 Chromosome 7, 103179595: 103179595
36 RELN NM_005045.3(RELN): c.7110T> C (p.Val2370=) single nucleotide variant Benign/Likely benign rs362746 GRCh38 Chromosome 7, 103539148: 103539148
37 RELN NM_005045.3(RELN): c.7438G> A (p.Gly2480Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs150236371 GRCh37 Chromosome 7, 103163890: 103163890
38 RELN NM_005045.3(RELN): c.7438G> A (p.Gly2480Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs150236371 GRCh38 Chromosome 7, 103523443: 103523443
39 RELN NM_005045.3(RELN): c.8046T> C (p.His2682=) single nucleotide variant Benign rs2229864 GRCh37 Chromosome 7, 103155705: 103155705
40 RELN NM_005045.3(RELN): c.8046T> C (p.His2682=) single nucleotide variant Benign rs2229864 GRCh38 Chromosome 7, 103515258: 103515258
41 RELN NM_005045.3(RELN): c.8136A> G (p.Leu2712=) single nucleotide variant Benign/Likely benign rs3808039 GRCh37 Chromosome 7, 103151436: 103151436
42 RELN NM_005045.3(RELN): c.8136A> G (p.Leu2712=) single nucleotide variant Benign/Likely benign rs3808039 GRCh38 Chromosome 7, 103510989: 103510989
43 RELN NM_005045.3(RELN): c.8508C> T (p.Phe2836=) single nucleotide variant Benign/Likely benign rs2229862 GRCh37 Chromosome 7, 103141351: 103141351
44 RELN NM_005045.3(RELN): c.8508C> T (p.Phe2836=) single nucleotide variant Benign/Likely benign rs2229862 GRCh38 Chromosome 7, 103500904: 103500904
45 RELN NM_005045.3(RELN): c.8843+7G> C single nucleotide variant Benign rs2711885 GRCh37 Chromosome 7, 103138517: 103138517
46 RELN NM_005045.3(RELN): c.8843+7G> C single nucleotide variant Benign rs2711885 GRCh38 Chromosome 7, 103498070: 103498070
47 RELN NM_005045.3(RELN): c.9340A> G (p.Ile3114Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149613347 GRCh37 Chromosome 7, 103136199: 103136199
48 RELN NM_005045.3(RELN): c.9340A> G (p.Ile3114Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149613347 GRCh38 Chromosome 7, 103495752: 103495752
49 RELN NM_005045.3(RELN): c.9370-13_9370-8delATGTTT deletion Benign rs141397961 GRCh37 Chromosome 7, 103132481: 103132486
50 RELN NM_005045.3(RELN): c.9370-13_9370-8delATGTTT deletion Benign rs141397961 GRCh38 Chromosome 7, 103492034: 103492039
Sources

Expression for Lissencephaly 2

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Search GEO for disease gene expression data for Lissencephaly 2.
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Pathways for Lissencephaly 2

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GO Terms for Lissencephaly 2

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Biological processes related to Lissencephaly 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.58 ARX NDE1 RELN
2 axon guidance GO:0007411 9.37 ARX RELN
3 neuron migration GO:0001764 9.33 ARX NDE1 RELN
4 cell migration GO:0016477 9.32 NDE1 RELN
5 cerebral cortex development GO:0021987 9.26 NDE1 RELN
6 cerebral cortex tangential migration GO:0021800 8.96 ARX RELN
7 forebrain development GO:0030900 8.8 ARX NDE1 RELN
Sources

Sources for Lissencephaly 2

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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