MCID: PFH001
MIFTS: 12

Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia

Aliases & Classifications for Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia

MalaCards integrated aliases for Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia:

Name: Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia 24 29
Lis1-Associated Lissencephaly/subcortical Band Heterotopia 24

Summaries for Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia

MalaCards based summary : Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia, also known as lis1-associated lissencephaly/subcortical band heterotopia, is related to miller-dieker lissencephaly syndrome and band heterotopia. An important gene associated with Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia is PAFAH1B1 (Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1). Affiliated tissues include brain and cortex.

GeneReviews: NBK5189

Related Diseases for Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia

Diseases related to Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 miller-dieker lissencephaly syndrome 10.5
2 band heterotopia 10.5
3 lissencephaly 1 10.5
4 alacrima, achalasia, and mental retardation syndrome 10.5
5 lissencephaly 10.5
6 pachygyria 10.5

Graphical network of the top 20 diseases related to Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia:



Diseases related to Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia

Symptoms & Phenotypes for Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia

Drugs & Therapeutics for Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia

Search Clinical Trials , NIH Clinical Center for Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia

Genetic Tests for Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia

Genetic tests related to Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia:

# Genetic test Affiliating Genes
1 Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia 29

Anatomical Context for Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia

MalaCards organs/tissues related to Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia:

41
Brain, Cortex

Publications for Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia

Articles related to Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia:

(show top 50) (show all 68)
# Title Authors PMID Year
1
LIS1 controls mitosis and mitotic spindle organization via the LIS1-NDEL1-dynein complex. 4
24030547 2014
2
Nudel/NudE and Lis1 promote dynein and dynactin interaction in the context of spindle morphogenesis. 4
24025714 2013
3
Lissencephaly-1 promotes the recruitment of dynein and dynactin to transported mRNAs. 4
23918939 2013
4
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. 4
23361065 2013
5
Lis1 acts as a "clutch" between the ATPase and microtubule-binding domains of the dynein motor. 4
22939623 2012
6
Lis1 is an initiation factor for dynein-driven organelle transport. 4
22711696 2012
7
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies. 4
22129557 2012
8
Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalities. 4
21410694 2011
9
Functional dissection of LIS1 and NDEL1 towards understanding the molecular mechanisms of cytoplasmic dynein regulation. 4
21036906 2011
10
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. 4
20466733 2010
11
A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism. 4
19808989 2010
12
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity. 4
19667223 2009
13
Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. 4
19050731 2009
14
High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis. 4
18285425 2008
15
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). 4
17584854 2007
16
Location and type of mutation in the LIS1 gene do not predict phenotypic severity. 4
17664403 2007
17
Expression patterns of LIS1, dynein and their interaction partners dynactin, NudE, NudEL and NudC in human gliomas suggest roles in invasion and proliferation. 4
17221205 2007
18
Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia. 4
17283321 2007
19
Genotypically defined lissencephalies show distinct pathologies. 4
16215456 2005
20
LIS1 RNA interference blocks neural stem cell division, morphogenesis, and motility at multiple stages. 4
16144905 2005
21
Interneuron deficits in patients with the Miller-Dieker syndrome. 4
15739099 2005
22
Genetic malformations of the cerebral cortex and epilepsy. 4
15816977 2005
23
The structure of the N-terminal domain of the product of the lissencephaly gene Lis1 and its functional implications. 4
15274919 2004
24
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. 4
14722918 2004
25
Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature. 4
14681753 2003
26
Interaction of reelin signaling and Lis1 in brain development. 4
14578885 2003
27
Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. 4
14581661 2003
28
Lissencephaly and the molecular basis of neuronal migration. 4
12668601 2003
29
Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. 4
12621583 2003
30
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. 4
12390976 2002
31
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1). 4
11754098 2002
32
Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. 4
11748497 2001
33
LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. 4
11502906 2001
34
Targeted mutagenesis of Lis1 disrupts cortical development and LIS1 homodimerization. 4
11344260 2001
35
Nudf, a fungal homolog of the human LIS1 protein, functions as a dimer in vivo. 4
11134054 2001
36
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. 4
11175293 2001
37
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. 4
11115846 2000
38
LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome. 4
11163258 2000
39
A LIS1/NUDEL/cytoplasmic dynein heavy chain complex in the developing and adult nervous system. 4
11163259 2000
40
NUDEL is a novel Cdk5 substrate that associates with LIS1 and cytoplasmic dynein. 4
11163260 2000
41
Regulation of cytoplasmic dynein behaviour and microtubule organization by mammalian Lis1. 4
11056530 2000
42
A role for the lissencephaly gene LIS1 in mitosis and cytoplasmic dynein function. 4
11056532 2000
43
The LIS1-related NUDF protein of Aspergillus nidulans interacts with the coiled-coil domain of the NUDE/RO11 protein. 4
10931877 2000
44
Hippocampal abnormalities and enhanced excitability in a murine model of human lissencephaly. 4
10729324 2000
45
Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development. 4
10727864 2000
46
Analysis of lissencephaly-causing LIS1 mutations. 4
10583396 1999
47
Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. 4
10441340 1999
48
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. 4
10430413 1999
49
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly. 4
9989616 1999
50
Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. 4
9989615 1999

Variations for Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia

Expression for Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia

Search GEO for disease gene expression data for Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia.

Pathways for Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia

GO Terms for Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia

Sources for Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia

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