LIS7
MCID: LSS030
MIFTS: 36

Lissencephaly 7 with Cerebellar Hypoplasia (LIS7)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Lissencephaly 7 with Cerebellar Hypoplasia

MalaCards integrated aliases for Lissencephaly 7 with Cerebellar Hypoplasia:

Name: Lissencephaly 7 with Cerebellar Hypoplasia 57 11 28 5 14
Lis7 57 11 73
Lissencephaly, Type 7, with Cerebellar Hypoplasia 38
Lissencephaly 7, with Cerebellar Hypoplasia 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset at birth
death in first days or months of life
one large consanguineous kindred of israeli muslim descent has been reported (last curated may 2015)


Classifications:



Summaries for Lissencephaly 7 with Cerebellar Hypoplasia

OMIM®: 57 Lissencephaly-7 with cerebellar hypoplasia (LIS7) is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (Magen et al., 2015). For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). (616342) (Updated 08-Dec-2022)

MalaCards based summary: Lissencephaly 7 with Cerebellar Hypoplasia, also known as lis7, is related to hypomelanosis of ito and lissencephaly 3. An important gene associated with Lissencephaly 7 with Cerebellar Hypoplasia is CDK5 (Cyclin Dependent Kinase 5), and among its related pathways/superpathways are Neuroscience and COPI-independent Golgi-to-ER retrograde traffic. Affiliated tissues include cortex, skeletal muscle and brain, and related phenotypes are seizure and agenesis of corpus callosum

UniProtKB/Swiss-Prot: 73 A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS7 patients manifest lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy.

Disease Ontology: 11 A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has material basis in homozygous or compound heterozygous mutation in CDK5 on chromosome 7q36.1.

Related Diseases for Lissencephaly 7 with Cerebellar Hypoplasia

Diseases in the Lissencephaly 7 with Cerebellar Hypoplasia family:

Lissencephaly with Cerebellar Hypoplasia Type F Lissencephaly with Cerebellar Hypoplasia Type E
Lissencephaly with Cerebellar Hypoplasia Type B Lissencephaly with Cerebellar Hypoplasia Type a
Lissencephaly with Cerebellar Hypoplasia Type D Lissencephaly with Cerebellar Hypoplasia Type C

Diseases related to Lissencephaly 7 with Cerebellar Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 hypomelanosis of ito 9.9 TUBA1A PAFAH1B1
2 lissencephaly 3 9.9 TUBA1A PAFAH1B1
3 neuronal migration disorders 9.8 TUBA1A RELN
4 lissencephaly, x-linked, 1 9.8 PAFAH1B1 DCX
5 polymicrogyria, bilateral frontoparietal 9.7 TUBA1A RELN
6 chromosome 17p13.3, centromeric, duplication syndrome 9.7 PAFAH1B1 DCX
7 microlissencephaly 9.7 TUBA1A RELN PAFAH1B1
8 tubulinopathy 9.7 TUBA1A RELN PAFAH1B1
9 lissencephaly 2 9.7 TUBA1A RELN PAFAH1B1
10 lissencephaly, x-linked, 2 9.7 TUBA1A RELN PAFAH1B1
11 polymicrogyria, bilateral perisylvian, x-linked 9.4 TUBA1A RELN DCX
12 frontotemporal dementia 9.4 TUBA1A RELN CDK5
13 cerebellar hypoplasia 9.4 RELN PAFAH1B1 DCX CDK5
14 lissencephaly 1 9.3 TUBA1A RELN PAFAH1B1 DCX
15 periventricular nodular heterotopia 9.3 TUBA1A RELN PAFAH1B1 DCX
16 epilepsy 9.1 RELN PAFAH1B1 DCX CDK5
17 lissencephaly 9.1 TUBA1A RELN PAFAH1B1 DCX CDK5
18 miller-dieker lissencephaly syndrome 9.1 TUBA1A RELN PAFAH1B1 DCX CDK5
19 band heterotopia 9.1 TUBA1A RELN PAFAH1B1 DCX CDK5
20 congenital nervous system abnormality 9.0 TUBA1A RELN PAFAH1B1 DCX CDK5
21 lissencephaly 10 9.0 TUBA1A RELN PAFAH1B1 ITK DCX

Graphical network of the top 20 diseases related to Lissencephaly 7 with Cerebellar Hypoplasia:



Diseases related to Lissencephaly 7 with Cerebellar Hypoplasia

Symptoms & Phenotypes for Lissencephaly 7 with Cerebellar Hypoplasia

Human phenotypes related to Lissencephaly 7 with Cerebellar Hypoplasia:

30 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizure 30 Very rare (1%) HP:0001250
2 agenesis of corpus callosum 30 Very rare (1%) HP:0001274
3 full cheeks 30 Very rare (1%) HP:0000293
4 lymphedema 30 Very rare (1%) HP:0001004
5 micrognathia 30 Very rare (1%) HP:0000347
6 downturned corners of mouth 30 Very rare (1%) HP:0002714
7 areflexia 30 Very rare (1%) HP:0001284
8 low anterior hairline 30 Very rare (1%) HP:0000294
9 arthrogryposis multiplex congenita 30 Very rare (1%) HP:0002804
10 cerebellar hypoplasia 30 Very rare (1%) HP:0001321
11 hand clenching 30 Very rare (1%) HP:0001188
12 hirsutism 30 Very rare (1%) HP:0001007
13 eeg with burst suppression 30 Very rare (1%) HP:0010851
14 small forehead 30 Very rare (1%) HP:0000350
15 agyria 30 Very rare (1%) HP:0031882
16 persistent head lag 30 Very rare (1%) HP:0032988
17 short neck 30 HP:0000470
18 global developmental delay 30 HP:0001263
19 microcephaly 30 HP:0000252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Neck:
short neck

Muscle Soft Tissue:
lymphedema
increased internal nuclei
nonspecific myopathic changes seen on muscle biopsy
small round skeletal muscle fibers

Neurologic Central Nervous System:
cerebellar hypoplasia
lissencephaly
agyria
agenesis of the corpus callosum
lack of psychomotor development
more
Respiratory:
shallow breathing

Head And Neck Head:
small head

Head And Neck Mouth:
downslanting corners of the mouth

Head And Neck Face:
full cheeks
micrognathia
short forehead

Neurologic Peripheral Nervous System:
areflexia
decreased pain response

Skin Nails Hair Hair:
hirsutism
low hairline

Skeletal Hands:
clenched hands

Skeletal:
arthrogryposis multiplex

Clinical features from OMIM®:

616342 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Lissencephaly 7 with Cerebellar Hypoplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.23 CDK5 DCX FDX1 ITK LXN PAFAH1B1

Drugs & Therapeutics for Lissencephaly 7 with Cerebellar Hypoplasia

Search Clinical Trials, NIH Clinical Center for Lissencephaly 7 with Cerebellar Hypoplasia

Genetic Tests for Lissencephaly 7 with Cerebellar Hypoplasia

Genetic tests related to Lissencephaly 7 with Cerebellar Hypoplasia:

# Genetic test Affiliating Genes
1 Lissencephaly 7 with Cerebellar Hypoplasia 28 CDK5

Anatomical Context for Lissencephaly 7 with Cerebellar Hypoplasia

Organs/tissues related to Lissencephaly 7 with Cerebellar Hypoplasia:

MalaCards : Cortex, Skeletal Muscle, Brain

Publications for Lissencephaly 7 with Cerebellar Hypoplasia

Articles related to Lissencephaly 7 with Cerebellar Hypoplasia:

# Title Authors PMID Year
1
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. 57 5
25560765 2015
2
Perinatal abrogation of Cdk5 expression in brain results in neuronal migration defects. 57
15067135 2004
3
Isomers of cyclo-heptasulfur and their coordination to Li(+): an ab initio molecular orbital study. 62
16296846 2005

Variations for Lissencephaly 7 with Cerebellar Hypoplasia

ClinVar genetic disease variations for Lissencephaly 7 with Cerebellar Hypoplasia:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDK5 NM_004935.4(CDK5):c.580+1G>A SNV Pathogenic
190117 rs786205164 GRCh37: 7:150752363-150752363
GRCh38: 7:151055276-151055276

Expression for Lissencephaly 7 with Cerebellar Hypoplasia

Search GEO for disease gene expression data for Lissencephaly 7 with Cerebellar Hypoplasia.

Pathways for Lissencephaly 7 with Cerebellar Hypoplasia

Pathways related to Lissencephaly 7 with Cerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.08 PAFAH1B1 DCX CDK5
2
Show member pathways
11.99 TUBA1A PAFAH1B1 CDK5
3 11.92 TUBA1A PAFAH1B1 DCX
4 11.09 RELN PAFAH1B1 CDK5
5 10.58 RELN PAFAH1B1 CDK5
6 10.37 RELN PAFAH1B1 DCX CDK5

GO Terms for Lissencephaly 7 with Cerebellar Hypoplasia

Cellular components related to Lissencephaly 7 with Cerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.56 RELN PAFAH1B1 DCX CDK5
2 microtubule associated complex GO:0005875 9.46 PAFAH1B1 DCX
3 microtubule GO:0005874 9.17 TUBA1A PAFAH1B1 DCX CDK5

Biological processes related to Lissencephaly 7 with Cerebellar Hypoplasia according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 microtubule cytoskeleton organization GO:0000226 9.95 CDK5 PAFAH1B1 TUBA1A
2 microtubule-based process GO:0007017 9.8 TUBA1A PAFAH1B1
3 positive regulation of dendritic spine morphogenesis GO:0061003 9.76 RELN PAFAH1B1
4 protein localization to synapse GO:0035418 9.73 RELN CDK5
5 visual learning GO:0008542 9.72 TUBA1A CDK5
6 axon extension GO:0048675 9.71 DCX CDK5
7 dendrite morphogenesis GO:0048813 9.7 DCX CDK5
8 hippocampus development GO:0021766 9.7 PAFAH1B1 DCX CDK5 RELN
9 associative learning GO:0008306 9.69 RELN CDK5
10 interneuron migration GO:1904936 9.67 RELN PAFAH1B1
11 cerebral cortex development GO:0021987 9.65 CDK5 PAFAH1B1 RELN TUBA1A
12 reelin-mediated signaling pathway GO:0038026 9.62 RELN PAFAH1B1
13 neuron migration GO:0001764 9.61 TUBA1A RELN PAFAH1B1 DCX CDK5
14 glial cell differentiation GO:0010001 9.58 TUBA1A RELN
15 layer formation in cerebral cortex GO:0021819 9.17 RELN PAFAH1B1 DCX CDK5

Molecular functions related to Lissencephaly 7 with Cerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 9.02 PAFAH1B1 DCX CDK5

Sources for Lissencephaly 7 with Cerebellar Hypoplasia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....