LIS9
MCID: LSS040
MIFTS: 32
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Lissencephaly 9 with Complex Brainstem Malformation (LIS9)
Categories:
Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Lissencephaly 9 with Complex Brainstem Malformation:Characteristics:Inheritance:
Lissencephaly 9 with Complex Brainstem Malformation:
Autosomal dominant 57
Posterior-Predominant Lissencephaly-Broad Flat Pons and Medulla-Midline Crossing Defects Syndrome:
Autosomal dominant 58
Prevelance:
Posterior-Predominant Lissencephaly-Broad Flat Pons and Medulla-Midline Crossing Defects Syndrome:
<1/1000000 (Worldwide) 58
Age Of Onset:
Posterior-Predominant Lissencephaly-Broad Flat Pons and Medulla-Midline Crossing Defects Syndrome:
Infancy 58
Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Mental diseases
Orphanet: 58
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OMIM®: 57 Lissencephaly-9 with complex brainstem malformation (LIS9) 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) (Updated 08-Dec-2022) MalaCards based summary: Lissencephaly 9 with Complex Brainstem Malformation, also known as lis9, is related to motility-related diarrhea. An important gene associated with Lissencephaly 9 with Complex Brainstem Malformation is MACF1 (Microtubule Actin Crosslinking Factor 1). Affiliated tissues include pons, cortex and brain, and related phenotypes are involuntary movements and microcephaly UniProtKB/Swiss-Prot: 73 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. Disease Ontology: 11 A lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that has material basis in heterozygous mutation in MACF1 on chromosome 1p34.3. |
Diseases related to Lissencephaly 9 with Complex Brainstem Malformation via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Lissencephaly 9 with Complex Brainstem Malformation:58 30 (show all 29)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:618325 (Updated 08-Dec-2022) |
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Organs/tissues related to Lissencephaly 9 with Complex Brainstem Malformation:
MalaCards :
Pons,
Cortex,
Brain,
Cerebellum
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Articles related to Lissencephaly 9 with Complex Brainstem Malformation:
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ClinVar genetic disease variations for Lissencephaly 9 with Complex Brainstem Malformation:5 (show all 48)
UniProtKB/Swiss-Prot genetic disease variations for Lissencephaly 9 with Complex Brainstem Malformation:73
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Search
GEO
for disease gene expression data for Lissencephaly 9 with Complex Brainstem Malformation.
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