LIS7
MCID: LSS030
MIFTS: 21

Lissencephaly 7 with Cerebellar Hypoplasia (LIS7)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Lissencephaly 7 with Cerebellar Hypoplasia

MalaCards integrated aliases for Lissencephaly 7 with Cerebellar Hypoplasia:

Name: Lissencephaly 7 with Cerebellar Hypoplasia 56 29 6
Lis7 56 73
Lissencephaly, Type 7, with Cerebellar Hypoplasia 39
Lissencephaly 7, with Cerebellar Hypoplasia 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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)


HPO:

31
lissencephaly 7 with cerebellar hypoplasia:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Lissencephaly 7 with Cerebellar Hypoplasia

UniProtKB/Swiss-Prot : 73 Lissencephaly 7, with cerebellar hypoplasia: 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.

MalaCards based summary : Lissencephaly 7 with Cerebellar Hypoplasia, is also known as lis7. An important gene associated with Lissencephaly 7 with Cerebellar Hypoplasia is CDK5 (Cyclin Dependent Kinase 5). Affiliated tissues include cortex, skeletal muscle and brain, and related phenotypes are short neck and agenesis of corpus callosum

OMIM : 56 Lissencephaly-7 with cerebellar hypoplasia is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (summary by Magen et al., 2015). For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). (616342)

Related Diseases for Lissencephaly 7 with Cerebellar Hypoplasia

Symptoms & Phenotypes for Lissencephaly 7 with Cerebellar Hypoplasia

Human phenotypes related to Lissencephaly 7 with Cerebellar Hypoplasia:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 short neck 31 HP:0000470
2 agenesis of corpus callosum 31 HP:0001274
3 seizures 31 HP:0001250
4 global developmental delay 31 HP:0001263
5 micrognathia 31 HP:0000347
6 microcephaly 31 HP:0000252
7 arthrogryposis multiplex congenita 31 HP:0002804
8 full cheeks 31 HP:0000293
9 areflexia 31 HP:0001284
10 lymphedema 31 HP:0001004
11 cerebellar hypoplasia 31 HP:0001321
12 lissencephaly 31 HP:0001339
13 hand clenching 31 HP:0001188
14 hirsutism 31 HP:0001007
15 agyria 31 HP:0031882

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck

Neurologic Peripheral Nervous System:
areflexia
decreased pain response

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:
micrognathia
full cheeks
short forehead

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

Skin Nails Hair Hair:
hirsutism
low hairline

Skeletal Hands:
clenched hands

Skeletal:
arthrogryposis multiplex

Clinical features from OMIM:

616342

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 29 CDK5

Anatomical Context for Lissencephaly 7 with Cerebellar Hypoplasia

MalaCards organs/tissues related to Lissencephaly 7 with Cerebellar Hypoplasia:

40
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. 56 6
25560765 2015
2
Perinatal abrogation of Cdk5 expression in brain results in neuronal migration defects. 56
15067135 2004
3
Isomers of cyclo-heptasulfur and their coordination to Li(+): an ab initio molecular orbital study. 61
16296846 2005

Variations for Lissencephaly 7 with Cerebellar Hypoplasia

ClinVar genetic disease variations for Lissencephaly 7 with Cerebellar Hypoplasia:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CDK5 NM_004935.4(CDK5):c.580+1G>ASNV Pathogenic 190117 rs786205164 7:150752363-150752363 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

GO Terms for Lissencephaly 7 with Cerebellar Hypoplasia

Sources for Lissencephaly 7 with Cerebellar Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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