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 54 29
Lissencephaly 7, with Cerebellar Hypoplasia 71
Lis7 71

Characteristics:

OMIM:

54
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 : 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 lissencephaly 7, with cerebellar hypoplasia, and has symptoms including hirsutism, microcephaly and micrognathia. An important gene associated with Lissencephaly 7 with Cerebellar Hypoplasia is CDK5 (Cyclin Dependent Kinase 5). Affiliated tissues include cortex and skeletal muscle.

OMIM : 54
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:

54

Skin Nails & Hair- Hair:
hirsutism
low hairline

Head And Neck- Face:
micrognathia
full cheeks
short forehead

Neurologic- Peripheral Nervous System:
areflexia
decreased pain response

Skeletal- Hands:
clenched hands

Head And Neck- Head:
small head

Head And Neck- Mouth:
downslanting corners of the mouth

Neurologic- Central Nervous System:
lack of psychomotor development
cerebellar hypoplasia
seizures, intractable
agenesis of the corpus callosum
lissencephaly
more
Head And Neck- Neck:
short neck

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

Respiratory:
shallow breathing

Skeletal:
arthrogryposis multiplex


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

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, 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
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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