MCID: LSS030
MIFTS: 21

Lissencephaly 7 with Cerebellar Hypoplasia

Categories: Genetic diseases, Neuronal diseases, Fetal 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 57 29 6
Lis7 57 75
Lissencephaly, Type 7, with Cerebellar Hypoplasia 40
Lissencephaly 7, with Cerebellar Hypoplasia 75

Characteristics:

OMIM:

57
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:

32
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 : 75 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 : 57 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:

57
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

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

Head And Neck Head:
small head

Respiratory:
shallow breathing


Clinical features from OMIM:

616342

Human phenotypes related to Lissencephaly 7 with Cerebellar Hypoplasia:

32 (show all 13)
# 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:

# 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:

41
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
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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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