LIS9
MCID: LSS040
MIFTS: 15

Lissencephaly 9 with Complex Brainstem Malformation (LIS9)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Lissencephaly 9 with Complex Brainstem Malformation

MalaCards integrated aliases for Lissencephaly 9 with Complex Brainstem Malformation:

Name: Lissencephaly 9 with Complex Brainstem Malformation 58 76
Lis9 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation


Classifications:



External Ids:

OMIM 58 618325
MeSH 45 D054082
MedGen 43 CN258209

Summaries for Lissencephaly 9 with Complex Brainstem Malformation

UniProtKB/Swiss-Prot : 76 Lissencephaly 9 with complex brainstem malformation: 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. LIS9 is an autosomal dominant form clinically characterized by global developmental delay apparent since infancy, impaired intellectual development with poor or absent speech, and sometimes abnormal or involuntary movements. Brain imaging shows malformation of the brainstem, in addition to pachygyria and lissencephaly.

MalaCards based summary : Lissencephaly 9 with Complex Brainstem Malformation, is also known as lis9. An important gene associated with Lissencephaly 9 with Complex Brainstem Malformation is MACF1 (Microtubule Actin Crosslinking Factor 1). Affiliated tissues include brain, cortex and pons.

OMIM : 58 Lissencephaly-9 is an autosomal dominant neurologic disorder characterized by global developmental delay apparent since infancy, impaired intellectual development with poor or absent speech, and sometimes abnormal or involuntary movements associated with abnormal brain imaging that typically shows pachygyria, lissencephaly, and malformation of the brainstem consistent with a neuronal migration defect (summary by Dobyns et al., 2018). For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). (618325)

Related Diseases for Lissencephaly 9 with Complex Brainstem Malformation

Symptoms & Phenotypes for Lissencephaly 9 with Complex Brainstem Malformation

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
dysphagia

Head And Neck Eyes:
strabismus
impaired extraocular movements

Muscle Soft Tissue:
hypotonia

Head And Neck Head:
microcephaly (-4 to 5 sd) (in some patients)

Neurologic Central Nervous System:
global developmental delay
thin corpus callosum
brainstem hypoplasia
poor or absent speech
small cerebellum
more
Head And Neck Face:
facial asymmetry

Growth Height:
short stature (in some patients)

Clinical features from OMIM:

618325

Drugs & Therapeutics for Lissencephaly 9 with Complex Brainstem Malformation

Search Clinical Trials , NIH Clinical Center for Lissencephaly 9 with Complex Brainstem Malformation

Genetic Tests for Lissencephaly 9 with Complex Brainstem Malformation

Anatomical Context for Lissencephaly 9 with Complex Brainstem Malformation

MalaCards organs/tissues related to Lissencephaly 9 with Complex Brainstem Malformation:

42
Brain, Cortex, Pons, Cerebellum

Publications for Lissencephaly 9 with Complex Brainstem Malformation

Variations for Lissencephaly 9 with Complex Brainstem Malformation

Expression for Lissencephaly 9 with Complex Brainstem Malformation

Search GEO for disease gene expression data for Lissencephaly 9 with Complex Brainstem Malformation.

Pathways for Lissencephaly 9 with Complex Brainstem Malformation

GO Terms for Lissencephaly 9 with Complex Brainstem Malformation

Sources for Lissencephaly 9 with Complex Brainstem Malformation

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
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43 MedGen
45 MeSH
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47 MGI
50 NCI
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55 NINDS
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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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