MCID: LSS030
MIFTS: 21

Lissencephaly 7 with Cerebellar Hypoplasia

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

Aliases & Classifications for Lissencephaly 7 with Cerebellar Hypoplasia

MalaCards integrated aliases for Lissencephaly 7 with Cerebellar Hypoplasia:

Name: Lissencephaly 7 with Cerebellar Hypoplasia 53 28
Lis7 53 71
Lissencephaly 7, with Cerebellar Hypoplasia 71

Characteristics:

OMIM:

53
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:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Lissencephaly 7 with Cerebellar Hypoplasia

UniProtKB/Swiss-Prot : 71 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, 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 and skeletal muscle.

OMIM : 53 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

Symptoms via clinical synopsis from OMIM:

53
Respiratory:
shallow breathing

Head And Neck Face:
full cheeks
micrognathia
short forehead

Neurologic Central Nervous System:
cerebellar hypoplasia
lissencephaly
agenesis of the corpus callosum
agyria
seizures, intractable
more
Skin Nails Hair Hair:
hirsutism
low hairline

Head And Neck Head:
small head

Head And Neck Mouth:
downslanting corners of the mouth

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

Skeletal Hands:
clenched hands

Skeletal:
arthrogryposis multiplex


Clinical features from OMIM:

616342

Human phenotypes related to Lissencephaly 7 with Cerebellar Hypoplasia:

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

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

Anatomical Context for Lissencephaly 7 with Cerebellar Hypoplasia

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

38
Cortex, Skeletal Muscle

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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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