MCID: LSS006
MIFTS: 35

Lissencephaly 2

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

Aliases & Classifications for Lissencephaly 2

MalaCards integrated aliases for Lissencephaly 2:

Name: Lissencephaly 2 57 12 53 75 29 13 6
Lissencephaly Syndrome, Norman-Roberts Type 57 12 59 73
Norman-Roberts Syndrome 57 12 76 75
Lis2 57 53 75
Lissencephaly Syndrome Norman-Roberts Type 53 75
Norman Roberts Lissencephaly Syndrome 53 44
Lissencephaly with Cerebellar Hypoplasia 75
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:



External Ids:

OMIM 57 257320
Disease Ontology 12 DOID:0060902
ICD10 33 Q04.3
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

Summaries for Lissencephaly 2

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 lissencephaly syndrome, norman-roberts type, is related to lissencephaly with cerebellar hypoplasia and lissencephaly. An important gene associated with Lissencephaly 2 is RELN (Reelin). Affiliated tissues include cerebellum, eye and skin, and related phenotypes are microcephaly and sloping forehead

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

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

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

Description from OMIM: 257320

Related Diseases for Lissencephaly 2

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:

57
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:

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

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 29 RELN
2 Type Ii Lissencephaly 29

Anatomical Context for Lissencephaly 2

MalaCards organs/tissues related to Lissencephaly 2:

41
Cerebellum, Eye, Skin, Cortex, Brain

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
(show top 50) (show all 366)
# 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 GRCh38 Chromosome 7, 103565295: 103565295
4 RELN NM_005045.3(RELN): c.5193C> A (p.Tyr1731Ter) single nucleotide variant Pathogenic rs587780435 GRCh37 Chromosome 7, 103205742: 103205742
5 RELN NM_005045.3(RELN): c.5195_5208dupTTCCACTCTCCACC (p.Ile1737Phefs) duplication Pathogenic rs587780436 GRCh37 Chromosome 7, 103205727: 103205740
6 RELN NM_005045.3(RELN): c.5195_5208dupTTCCACTCTCCACC (p.Ile1737Phefs) duplication Pathogenic rs587780436 GRCh38 Chromosome 7, 103565280: 103565293
7 RELN NM_005045.3(RELN): c.7490+1G> A single nucleotide variant Pathogenic rs587780437 GRCh37 Chromosome 7, 103163837: 103163837
8 RELN NM_005045.3(RELN): c.7490+1G> A single nucleotide variant Pathogenic rs587780437 GRCh38 Chromosome 7, 103523390: 103523390
9 RELN NM_005045.3(RELN): c.5923G> A (p.Gly1975Ser) single nucleotide variant Benign/Likely benign rs114807343 GRCh37 Chromosome 7, 103194153: 103194153
10 RELN NM_005045.3(RELN): c.5923G> A (p.Gly1975Ser) single nucleotide variant Benign/Likely benign rs114807343 GRCh38 Chromosome 7, 103553706: 103553706
11 RELN NM_005045.3(RELN): c.6193G> A (p.Val2065Ile) single nucleotide variant Uncertain significance rs201627577 GRCh37 Chromosome 7, 103191623: 103191623
12 RELN NM_005045.3(RELN): c.6193G> A (p.Val2065Ile) single nucleotide variant Uncertain significance rs201627577 GRCh38 Chromosome 7, 103551176: 103551176
13 RELN NM_005045.3(RELN): c.4408G> A (p.Val1470Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs143213152 GRCh37 Chromosome 7, 103214642: 103214642
14 RELN NM_005045.3(RELN): c.4408G> A (p.Val1470Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs143213152 GRCh38 Chromosome 7, 103574195: 103574195
15 RELN NM_005045.3(RELN): c.8944G> A (p.Asp2982Asn) single nucleotide variant Benign rs148509350 GRCh37 Chromosome 7, 103138273: 103138273
16 RELN NM_005045.3(RELN): c.8944G> A (p.Asp2982Asn) single nucleotide variant Benign rs148509350 GRCh38 Chromosome 7, 103497826: 103497826
17 RELN NM_005045.3(RELN): c.5618C> T (p.Thr1873Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs41275239 GRCh37 Chromosome 7, 103197603: 103197603
18 RELN NM_005045.3(RELN): c.5618C> T (p.Thr1873Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs41275239 GRCh38 Chromosome 7, 103557156: 103557156
19 RELN NM_005045.3(RELN): c.8811G> A (p.Ala2937=) single nucleotide variant Benign/Likely benign rs144728023 GRCh37 Chromosome 7, 103138556: 103138556
20 RELN NM_005045.3(RELN): c.8811G> A (p.Ala2937=) single nucleotide variant Benign/Likely benign rs144728023 GRCh38 Chromosome 7, 103498109: 103498109
21 RELN NM_005045.3(RELN): c.5274G> T (p.Ala1758=) single nucleotide variant Conflicting interpretations of pathogenicity rs139102992 GRCh37 Chromosome 7, 103202337: 103202337
22 RELN NM_005045.3(RELN): c.5274G> T (p.Ala1758=) single nucleotide variant Conflicting interpretations of pathogenicity rs139102992 GRCh38 Chromosome 7, 103561890: 103561890
23 RELN NM_005045.3(RELN): c.77C> T (p.Ala26Val) single nucleotide variant Conflicting interpretations of pathogenicity rs144557847 GRCh37 Chromosome 7, 103629727: 103629727
24 RELN NM_005045.3(RELN): c.77C> T (p.Ala26Val) single nucleotide variant Conflicting interpretations of pathogenicity rs144557847 GRCh38 Chromosome 7, 103989280: 103989280
25 RELN NM_005045.3(RELN): c.906C> T (p.Ala302=) single nucleotide variant Benign/Likely benign rs114494558 GRCh37 Chromosome 7, 103338537: 103338537
26 RELN NM_005045.3(RELN): c.906C> T (p.Ala302=) single nucleotide variant Benign/Likely benign rs114494558 GRCh38 Chromosome 7, 103698090: 103698090
27 RELN NM_005045.3(RELN): c.1442-8T> C single nucleotide variant Benign/Likely benign rs181761096 GRCh37 Chromosome 7, 103294660: 103294660
28 RELN NM_005045.3(RELN): c.1442-8T> C single nucleotide variant Benign/Likely benign rs181761096 GRCh38 Chromosome 7, 103654213: 103654213
29 RELN NM_005045.3(RELN): c.1817C> T (p.Thr606Ile) single nucleotide variant Uncertain significance rs540111252 GRCh37 Chromosome 7, 103292183: 103292183
30 RELN NM_005045.3(RELN): c.1817C> T (p.Thr606Ile) single nucleotide variant Uncertain significance rs540111252 GRCh38 Chromosome 7, 103651736: 103651736
31 RELN NM_005045.3(RELN): c.2016G> A (p.Pro672=) single nucleotide variant Conflicting interpretations of pathogenicity rs146749232 GRCh37 Chromosome 7, 103281043: 103281043
32 RELN NM_005045.3(RELN): c.2016G> A (p.Pro672=) single nucleotide variant Conflicting interpretations of pathogenicity rs146749232 GRCh38 Chromosome 7, 103640596: 103640596
33 RELN NM_005045.3(RELN): c.2754A> G (p.Gln918=) single nucleotide variant Conflicting interpretations of pathogenicity rs114620008 GRCh37 Chromosome 7, 103252199: 103252199
34 RELN NM_005045.3(RELN): c.2754A> G (p.Gln918=) single nucleotide variant Conflicting interpretations of pathogenicity rs114620008 GRCh38 Chromosome 7, 103611752: 103611752
35 RELN NM_005045.3(RELN): c.3123C> T (p.Gly1041=) single nucleotide variant Conflicting interpretations of pathogenicity rs41276148 GRCh37 Chromosome 7, 103244816: 103244816
36 RELN NM_005045.3(RELN): c.3123C> T (p.Gly1041=) single nucleotide variant Conflicting interpretations of pathogenicity rs41276148 GRCh38 Chromosome 7, 103604369: 103604369
37 RELN NM_005045.3(RELN): c.5200C> G (p.Leu1734Val) single nucleotide variant Conflicting interpretations of pathogenicity rs362800 GRCh37 Chromosome 7, 103205735: 103205735
38 RELN NM_005045.3(RELN): c.5200C> G (p.Leu1734Val) single nucleotide variant Conflicting interpretations of pathogenicity rs362800 GRCh38 Chromosome 7, 103565288: 103565288
39 RELN NM_005045.3(RELN): c.4937-4delT deletion Benign rs760665053 GRCh37 Chromosome 7, 103206002: 103206002
40 RELN NM_005045.3(RELN): c.4937-4delT deletion Benign rs760665053 GRCh38 Chromosome 7, 103565555: 103565555
41 RELN NM_005045.3(RELN): c.6141C> T (p.Phe2047=) single nucleotide variant Conflicting interpretations of pathogenicity rs79161241 GRCh37 Chromosome 7, 103191675: 103191675
42 RELN NM_005045.3(RELN): c.6141C> T (p.Phe2047=) single nucleotide variant Conflicting interpretations of pathogenicity rs79161241 GRCh38 Chromosome 7, 103551228: 103551228
43 RELN NM_005045.3(RELN): c.6278A> C (p.His2093Pro) single nucleotide variant Uncertain significance rs149152189 GRCh37 Chromosome 7, 103191538: 103191538
44 RELN NM_005045.3(RELN): c.6278A> C (p.His2093Pro) single nucleotide variant Uncertain significance rs149152189 GRCh38 Chromosome 7, 103551091: 103551091
45 RELN NM_005045.3(RELN): c.6520G> A (p.Glu2174Lys) single nucleotide variant Uncertain significance rs146877597 GRCh37 Chromosome 7, 103185574: 103185574
46 RELN NM_005045.3(RELN): c.6520G> A (p.Glu2174Lys) single nucleotide variant Uncertain significance rs146877597 GRCh38 Chromosome 7, 103545127: 103545127
47 RELN NM_005045.3(RELN): c.6553A> T (p.Met2185Leu) single nucleotide variant Likely benign rs114686696 GRCh37 Chromosome 7, 103183296: 103183296
48 RELN NM_005045.3(RELN): c.6553A> T (p.Met2185Leu) single nucleotide variant Likely benign rs114686696 GRCh38 Chromosome 7, 103542849: 103542849
49 RELN NM_005045.3(RELN): c.8843+3A> C single nucleotide variant Uncertain significance rs200124755 GRCh37 Chromosome 7, 103138521: 103138521
50 RELN NM_005045.3(RELN): c.8843+3A> C single nucleotide variant Uncertain significance rs200124755 GRCh38 Chromosome 7, 103498074: 103498074

Expression for Lissencephaly 2

Search GEO for disease gene expression data for Lissencephaly 2.

Pathways for Lissencephaly 2

GO Terms for Lissencephaly 2

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

# Name GO ID Score Top Affiliating Genes
1 axon guidance GO:0007411 9.26 ARX RELN
2 neuron migration GO:0001764 9.16 ARX RELN
3 forebrain development GO:0030900 8.96 ARX RELN
4 cerebral cortex tangential migration GO:0021800 8.62 ARX RELN

Sources for Lissencephaly 2

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
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