LIS7
MCID: LSS030
MIFTS: 18

Lissencephaly 7 with Cerebellar Hypoplasia (LIS7) malady

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

Aliases & Classifications for Lissencephaly 7 with Cerebellar Hypoplasia

Aliases & Descriptions for Lissencephaly 7 with Cerebellar Hypoplasia:

Name: Lissencephaly 7 with Cerebellar Hypoplasia 54
Lissencephaly 7, with Cerebellar Hypoplasia 66 29
Lis7 66

Characteristics:

HPO:

32
lissencephaly 7 with cerebellar hypoplasia:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 54 616342
MedGen 40 CN230161
MeSH 42 D054082

Summaries for Lissencephaly 7 with Cerebellar Hypoplasia

UniProtKB/Swiss-Prot : 66 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, also known as lissencephaly 7, with cerebellar hypoplasia, is related to lissencephaly 1, and has symptoms including short neck, agenesis of corpus callosum and global developmental delay. An important gene associated with Lissencephaly 7 with Cerebellar Hypoplasia is CDK5 (Cyclin Dependent Kinase 5). Affiliated tissues include cortex.

OMIM : 54 Lissencephaly-7 with cerebellar hypoplasia is a severe neurodevelopmental disorder characterized by lack of... (616342) more...

Related Diseases for Lissencephaly 7 with Cerebellar Hypoplasia

Diseases in the Lissencephaly with Cerebellar Hypoplasia family:

Lissencephaly 7 with Cerebellar Hypoplasia Lissencephaly with Cerebellar Hypoplasia Type B
Lissencephaly with Cerebellar Hypoplasia Type a Lissencephaly with Cerebellar Hypoplasia Type C

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

id Related Disease Score Top Affiliating Genes
1 lissencephaly 1 10.8

Symptoms & Phenotypes for Lissencephaly 7 with Cerebellar Hypoplasia

Symptoms by clinical synopsis from OMIM:

616342

Clinical features from OMIM:

616342

Human phenotypes related to Lissencephaly 7 with Cerebellar Hypoplasia:

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 short neck 32 HP:0000470
2 agenesis of corpus callosum 32 HP:0001274
3 global developmental delay 32 HP:0001263
4 microcephaly 32 HP:0000252
5 full cheeks 32 HP:0000293
6 micrognathia 32 HP:0000347
7 lymphedema 32 HP:0001004
8 arthrogryposis multiplex congenita 32 HP:0002804
9 cerebellar hypoplasia 32 HP:0001321
10 areflexia 32 HP:0001284
11 lissencephaly 32 HP:0001339
12 hand clenching 32 HP:0001188
13 hirsutism 32 HP:0001007

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:

id Genetic test Affiliating Genes
1 Lissencephaly 7 with Cerebellar Hypoplasia 29

Anatomical Context for Lissencephaly 7 with Cerebellar Hypoplasia

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

39
Cortex

Publications for Lissencephaly 7 with Cerebellar Hypoplasia

Variations for Lissencephaly 7 with Cerebellar Hypoplasia

ClinVar genetic disease variations for Lissencephaly 7 with Cerebellar Hypoplasia:

6
id 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

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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