LIS9
MCID: LSS040
MIFTS: 24

Lissencephaly 9 with Complex Brainstem Malformation (LIS9)

Categories: Genetic diseases, Neuronal diseases, Rare 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 56 73 29 6
Lis9 56 73
Posterior-Predominant Lissencephaly-Broad Flat Pons and Medulla-Midline Crossing Defects Syndrome 58

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation


HPO:

31
lissencephaly 9 with complex brainstem malformation:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Lissencephaly 9 with Complex Brainstem Malformation

UniProtKB/Swiss-Prot : 73 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, pons and cortex, and related phenotypes are microcephaly and short stature

OMIM : 56 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

Human phenotypes related to Lissencephaly 9 with Complex Brainstem Malformation:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 very rare (1%) HP:0000252
2 short stature 31 very rare (1%) HP:0004322
3 involuntary movements 31 very rare (1%) HP:0004305
4 global developmental delay 31 HP:0001263
5 spasticity 31 HP:0001257
6 dysphagia 31 HP:0002015
7 strabismus 31 HP:0000486
8 absent speech 31 HP:0001344
9 facial asymmetry 31 HP:0000324
10 cerebellar hypoplasia 31 HP:0001321
11 pachygyria 31 HP:0001302
12 hypoplasia of the corpus callosum 31 HP:0002079
13 generalized hypotonia 31 HP:0001290
14 hypoplasia of the brainstem 31 HP:0002365
15 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
thin corpus callosum
brainstem hypoplasia
poor or absent speech
small cerebellum
more
Head And Neck Eyes:
strabismus
impaired extraocular movements

Muscle Soft Tissue:
hypotonia

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

Abdomen Gastrointestinal:
dysphagia

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

Genetic tests related to Lissencephaly 9 with Complex Brainstem Malformation:

# Genetic test Affiliating Genes
1 Lissencephaly 9 with Complex Brainstem Malformation 29

Anatomical Context for Lissencephaly 9 with Complex Brainstem Malformation

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

40
Brain, Pons, Cortex, Cerebellum

Publications for Lissencephaly 9 with Complex Brainstem Malformation

Articles related to Lissencephaly 9 with Complex Brainstem Malformation:

# Title Authors PMID Year
1
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. 56 6
30471716 2018
2
Pontine malformation, undecussated pyramidal tracts, and regional polymicrogyria: a new syndrome. 6 56
24507697 2014
3
Duplication in the microtubule-actin cross-linking factor 1 gene causes a novel neuromuscular condition. 56
24899269 2014

Variations for Lissencephaly 9 with Complex Brainstem Malformation

ClinVar genetic disease variations for Lissencephaly 9 with Complex Brainstem Malformation:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MACF1 NM_012090.5(MACF1):c.10617+444_15577-288deldeletion Pathogenic 586952 1:39894403-39933999 1:39428731-39468327
2 MACF1 NM_012090.5(MACF1):c.14116G>C (p.Gly4706Arg)SNV Pathogenic 586953 rs1488808726 1:39916758-39916758 1:39451086-39451086
3 MACF1 NM_012090.5(MACF1):c.15530G>T (p.Cys5177Phe)SNV Pathogenic 586948 rs1557668270 1:39929312-39929312 1:39463640-39463640
4 MACF1 NM_012090.5(MACF1):c.15682G>T (p.Asp5228Tyr)SNV Pathogenic 586949 rs1557670503 1:39934392-39934392 1:39468720-39468720
5 MACF1 NM_012090.5(MACF1):c.15688T>G (p.Cys5230Gly)SNV Pathogenic 586950 rs1557670515 1:39934398-39934398 1:39468726-39468726
6 MACF1 NM_012090.5(MACF1):c.15689G>T (p.Cys5230Phe)SNV Pathogenic 586951 rs1557670520 1:39934399-39934399 1:39468727-39468727
7 MACF1 NM_012090.5(MACF1):c.13928T>C (p.Leu4643Pro)SNV Uncertain significance 828140 1:39914282-39914282 1:39448610-39448610

UniProtKB/Swiss-Prot genetic disease variations for Lissencephaly 9 with Complex Brainstem Malformation:

73
# Symbol AA change Variation ID SNP ID
1 MACF1 p.Cys7135Phe VAR_081967
2 MACF1 p.Asp7186Tyr VAR_081968
3 MACF1 p.Cys7188Phe VAR_081969
4 MACF1 p.Cys7188Gly VAR_081970

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
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10 dbSNP
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61 PubMed
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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