LIS7
MCID: LSS030
MIFTS: 22

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 58 30 6
Lis7 58 76
Lissencephaly, Type 7, with Cerebellar Hypoplasia 41
Lissencephaly 7, with Cerebellar Hypoplasia 76

Characteristics:

OMIM:

58
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:

33
lissencephaly 7 with cerebellar hypoplasia:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Lissencephaly 7 with Cerebellar Hypoplasia

UniProtKB/Swiss-Prot : 76 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 and skeletal muscle, and related phenotypes are short neck and agenesis of corpus callosum

OMIM : 58 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:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 short neck 33 HP:0000470
2 agenesis of corpus callosum 33 HP:0001274
3 seizures 33 HP:0001250
4 global developmental delay 33 HP:0001263
5 microcephaly 33 HP:0000252
6 full cheeks 33 HP:0000293
7 micrognathia 33 HP:0000347
8 lymphedema 33 HP:0001004
9 arthrogryposis multiplex congenita 33 HP:0002804
10 cerebellar hypoplasia 33 HP:0001321
11 areflexia 33 HP:0001284
12 hand clenching 33 HP:0001188
13 hirsutism 33 HP:0001007
14 lissencephaly 33 HP:0001339
15 agyria 33 HP:0031882

Symptoms via clinical synopsis from OMIM:

58
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 Peripheral Nervous System:
areflexia
decreased pain response

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 Central Nervous System:
cerebellar hypoplasia
lissencephaly
agenesis of the corpus callosum
lack of psychomotor development
agyria
more
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 30 CDK5

Anatomical Context for Lissencephaly 7 with Cerebellar Hypoplasia

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

42
Cortex, Skeletal Muscle

Publications for Lissencephaly 7 with Cerebellar Hypoplasia

Articles related to Lissencephaly 7 with Cerebellar Hypoplasia:

# Title Authors Year
1
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. ( 25560765 )
2015

Variations for Lissencephaly 7 with Cerebellar Hypoplasia

ClinVar genetic disease variations for Lissencephaly 7 with Cerebellar Hypoplasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CDK5 NM_004935.3(CDK5): c.580+1G> A single nucleotide variant Pathogenic rs786205164 GRCh37 Chromosome 7, 150752363: 150752363
2 CDK5 NM_004935.3(CDK5): c.580+1G> A single nucleotide variant Pathogenic rs786205164 GRCh38 Chromosome 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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