MCID: PFH002
MIFTS: 10

Pafah1b1-Related Lissencephaly/subcortical Band Heterotopia

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

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

Name: Pafah1b1-Related Lissencephaly/subcortical Band Heterotopia 25
Lis1-Related Lissencephaly/subcortical Band Heterotopia 25

Summaries for Pafah1b1-Related Lissencephaly/subcortical Band Heterotopia

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

GeneReviews: NBK5189

Related Diseases for Pafah1b1-Related Lissencephaly/subcortical Band Heterotopia

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

# Related Disease Score Top Affiliating Genes
1 band heterotopia 10.4
2 alacrima, achalasia, and mental retardation syndrome 10.4
3 west syndrome 10.4
4 aspiration pneumonia 10.4
5 lissencephaly 10.4
6 microcephaly 10.4
7 constipation 10.4
8 dysphagia 10.4
9 hypotonia 10.4
10 spasticity 10.4

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



Diseases related to Pafah1b1-Related Lissencephaly/subcortical Band Heterotopia

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

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

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

Genetic Tests for Pafah1b1-Related Lissencephaly/subcortical Band Heterotopia

Anatomical Context for Pafah1b1-Related Lissencephaly/subcortical Band Heterotopia

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

40
Cortex

Publications for Pafah1b1-Related Lissencephaly/subcortical Band Heterotopia

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

(show all 40)
# Title Authors PMID Year
1
New insights into the mechanism of dynein motor regulation by lissencephaly-1. 25
32692650 2020
2
Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature. 25
31585183 2020
3
Epilepsy in Tubulinopathy: Personal Series and Literature Review. 25
31269740 2019
4
Identification of a novel PAFAH1B1 missense mutation as a cause of mild lissencephaly with basal ganglia calcification. 25
30100227 2019
5
Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation. 25
30144370 2018
6
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. 25
29671837 2018
7
Sensitive quantitative detection of somatic mosaic mutation in "double cortex" syndrome. 25
29258966 2017
8
Lissencephaly: Expanded imaging and clinical classification. 25
28440899 2017
9
An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX. 25
28150386 2017
10
Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders. 25
28953922 2017
11
LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs. 25
26494205 2016
12
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25
25741868 2015
13
The wide spectrum of tubulinopathies: what are the key features for the diagnosis? 25
24860126 2014
14
LIS1 functions in normal development and disease. 25
23973156 2013
15
LIS1 and DCX: Implications for Brain Development and Human Disease in Relation to Microtubules. 25
24278775 2013
16
Diffuse malformations of cortical development. 25
23622213 2013
17
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies. 25
22129557 2012
18
Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalities. 25
21410694 2011
19
A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism. 25
19808989 2010
20
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity. 25
19667223 2009
21
Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. 25
19050731 2009
22
Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. 25
19439424 2009
23
Location and type of mutation in the LIS1 gene do not predict phenotypic severity. 25
17664403 2007
24
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. 25
14722918 2004
25
Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. 25
14581661 2003
26
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. 25
12621583 2003
27
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. 25
12390976 2002
28
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1). 25
11754098 2002
29
LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. 25
11502906 2001
30
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. 25
11115846 2000
31
Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. 25
10441340 1999
32
Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence. 25
11261426 1998
33
Platelet-activating factor receptor stimulation disrupts neuronal migration In vitro. 25
9412509 1998
34
A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. 25
9063734 1997
35
Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. 25
9063735 1997
36
Platelet-activating factor acetylhydrolase expression and activity suggest a link between neuronal migration and platelet-activating factor. 25
8954729 1996
37
Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]. 25
8028668 1994
38
EEG features of cortical dysplasia in children. 25
8232776 1993
39
Clinical and molecular diagnosis of Miller-Dieker syndrome. 25
1671808 1991
40
PAFAH1B1-Related Lissencephaly/Subcortical Band Heterotopia 61
20301752 2009

Variations for Pafah1b1-Related Lissencephaly/subcortical Band Heterotopia

Expression for Pafah1b1-Related Lissencephaly/subcortical Band Heterotopia

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

Pathways for Pafah1b1-Related Lissencephaly/subcortical Band Heterotopia

GO Terms for Pafah1b1-Related Lissencephaly/subcortical Band Heterotopia

Sources for Pafah1b1-Related Lissencephaly/subcortical Band Heterotopia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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