MCID: PFH001
MIFTS: 17

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 25 29
Lis1-Associated Lissencephaly/subcortical Band Heterotopia 25 6

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 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 10.4
2 band heterotopia 10.4
3 lissencephaly 1 10.4
4 alacrima, achalasia, and mental retardation syndrome 10.4
5 lissencephaly 10.4
6 pachygyria 10.4

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:

40
Cortex

Publications for Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia

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

(show top 50) (show all 69)
# Title Authors PMID Year
1
Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. 6 25
14581661 2003
2
LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. 25 6
11502906 2001
3
Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. 25 6
9063735 1997
4
Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia. 6
15007136 2004
5
LIS1 controls mitosis and mitotic spindle organization via the LIS1-NDEL1-dynein complex. 25
24030547 2014
6
Nudel/NudE and Lis1 promote dynein and dynactin interaction in the context of spindle morphogenesis. 25
24025714 2013
7
Lissencephaly-1 promotes the recruitment of dynein and dynactin to transported mRNAs. 25
23918939 2013
8
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. 25
23361065 2013
9
Lis1 acts as a "clutch" between the ATPase and microtubule-binding domains of the dynein motor. 25
22939623 2012
10
Lis1 is an initiation factor for dynein-driven organelle transport. 25
22711696 2012
11
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies. 25
22129557 2012
12
Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalities. 25
21410694 2011
13
Functional dissection of LIS1 and NDEL1 towards understanding the molecular mechanisms of cytoplasmic dynein regulation. 25
21036906 2011
14
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. 25
20466733 2010
15
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
16
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity. 25
19667223 2009
17
Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. 25
19050731 2009
18
High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis. 25
18285425 2008
19
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). 25
17584854 2007
20
Location and type of mutation in the LIS1 gene do not predict phenotypic severity. 25
17664403 2007
21
Expression patterns of LIS1, dynein and their interaction partners dynactin, NudE, NudEL and NudC in human gliomas suggest roles in invasion and proliferation. 25
17221205 2007
22
Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia. 25
17283321 2007
23
Genotypically defined lissencephalies show distinct pathologies. 25
16215456 2005
24
LIS1 RNA interference blocks neural stem cell division, morphogenesis, and motility at multiple stages. 25
16144905 2005
25
Interneuron deficits in patients with the Miller-Dieker syndrome. 25
15739099 2005
26
Genetic malformations of the cerebral cortex and epilepsy. 25
15816977 2005
27
The structure of the N-terminal domain of the product of the lissencephaly gene Lis1 and its functional implications. 25
15274919 2004
28
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. 25
14722918 2004
29
Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature. 25
14681753 2003
30
Interaction of reelin signaling and Lis1 in brain development. 25
14578885 2003
31
Lissencephaly and the molecular basis of neuronal migration. 25
12668601 2003
32
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
33
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. 25
12390976 2002
34
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1). 25
11754098 2002
35
Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. 25
11748497 2001
36
Targeted mutagenesis of Lis1 disrupts cortical development and LIS1 homodimerization. 25
11344260 2001
37
Nudf, a fungal homolog of the human LIS1 protein, functions as a dimer in vivo. 25
11134054 2001
38
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. 25
11175293 2001
39
A LIS1/NUDEL/cytoplasmic dynein heavy chain complex in the developing and adult nervous system. 25
11163259 2000
40
NUDEL is a novel Cdk5 substrate that associates with LIS1 and cytoplasmic dynein. 25
11163260 2000
41
LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome. 25
11163258 2000
42
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. 25
11115846 2000
43
A role for the lissencephaly gene LIS1 in mitosis and cytoplasmic dynein function. 25
11056532 2000
44
Regulation of cytoplasmic dynein behaviour and microtubule organization by mammalian Lis1. 25
11056530 2000
45
The LIS1-related NUDF protein of Aspergillus nidulans interacts with the coiled-coil domain of the NUDE/RO11 protein. 25
10931877 2000
46
Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development. 25
10727864 2000
47
Hippocampal abnormalities and enhanced excitability in a murine model of human lissencephaly. 25
10729324 2000
48
Analysis of lissencephaly-causing LIS1 mutations. 25
10583396 1999
49
Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. 25
10441340 1999
50
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. 25
10430413 1999

Variations for Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia

ClinVar genetic disease variations for Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia:

6 (show top 50) (show all 116)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PAFAH1B1 NM_000430.4(PAFAH1B1):c.446A>G (p.His149Arg) SNV Pathogenic 8073 rs121434482 17:2573503-2573503 17:2670209-2670209
2 PAFAH1B1 NM_000430.4(PAFAH1B1):c.817C>T (p.Arg273Ter) SNV Pathogenic 8074 rs121434483 17:2577499-2577499 17:2674205-2674205
3 PAFAH1B1 NM_000430.4(PAFAH1B1):c.991_1002+10del Deletion Pathogenic 8075 rs1567561137 17:2579886-2579907 17:2676592-2676613
4 PAFAH1B1 NM_000430.4(PAFAH1B1):c.949G>C (p.Asp317His) SNV Pathogenic 8077 rs121434485 17:2579847-2579847 17:2676553-2676553
5 PAFAH1B1 NM_000430.4(PAFAH1B1):c.92T>C (p.Phe31Ser) SNV Pathogenic 8078 rs121434486 17:2568725-2568725 17:2665431-2665431
6 PAFAH1B1 NM_000430.4(PAFAH1B1):c.830A>C (p.His277Pro) SNV Pathogenic 8082 rs121434490 17:2577512-2577512 17:2674218-2674218
7 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1002+1G>A SNV Pathogenic 21175 rs113994203 17:2579901-2579901 17:2676607-2676607
8 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1050del (p.Lys351fs) Deletion Pathogenic 21176 rs113994200 17:2583500-2583500 17:2680206-2680206
9 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1050dup (p.Lys351fs) Duplication Pathogenic 21177 rs113994200 17:2583499-2583500 17:2680205-2680206
10 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1009C>T (p.His337Tyr) SNV Pathogenic 159489 rs587784236 17:2583464-2583464 17:2680170-2680170
11 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1024_1031del (p.Arg342fs) Deletion Pathogenic 159490 rs587784237 17:2583479-2583486 17:2680185-2680192
12 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1063del (p.Ser355fs) Deletion Pathogenic 159491 rs587784238 17:2583518-2583518 17:2680224-2680224
13 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1064G>A (p.Ser355Asn) SNV Pathogenic 159492 rs587784239 17:2583519-2583519 17:2680225-2680225
14 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1100del (p.Tyr367fs) Deletion Pathogenic 159493 rs587784240 17:2583555-2583555 17:2680261-2680261
15 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1111C>T (p.Arg371Ter) SNV Pathogenic 159494 rs587784241 17:2583566-2583566 17:2680272-2680272
16 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1135C>T (p.His379Tyr) SNV Pathogenic 159495 rs587784242 17:2583590-2583590 17:2680296-2680296
17 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1159+2T>A SNV Pathogenic 159496 rs587784243 17:2583616-2583616 17:2680322-2680322
18 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1159G>T (p.Asp387Tyr) SNV Pathogenic 159497 rs587784244 17:2583614-2583614 17:2680320-2680320
19 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1165C>T (p.His389Tyr) SNV Pathogenic 159498 rs587784245 17:2585028-2585028 17:2681734-2681734
20 PAFAH1B1 NM_000430.4(PAFAH1B1):c.192+1G>A SNV Pathogenic 159509 rs587784256 17:2569385-2569385 17:2666091-2666091
21 PAFAH1B1 NM_000430.4(PAFAH1B1):c.192+1G>T SNV Pathogenic 159510 rs587784256 17:2569385-2569385 17:2666091-2666091
22 PAFAH1B1 NM_000430.4(PAFAH1B1):c.192G>C (p.Lys64Asn) SNV Pathogenic 159511 rs587784257 17:2569384-2569384 17:2666090-2666090
23 PAFAH1B1 NM_000430.4(PAFAH1B1):c.265C>T (p.Arg89Ter) SNV Pathogenic 159512 rs587784258 17:2570358-2570358 17:2667064-2667064
24 PAFAH1B1 NM_000430.4(PAFAH1B1):c.305dup (p.Tyr102Ter) Duplication Pathogenic 159513 rs587784259 17:2570397-2570398 17:2667103-2667104
25 PAFAH1B1 NM_000430.4(PAFAH1B1):c.33-3C>T SNV Pathogenic 159514 rs587784260 17:2568663-2568663 17:2665369-2665369
26 PAFAH1B1 NM_000430.4(PAFAH1B1):c.371T>A (p.Val124Asp) SNV Pathogenic 159515 rs587784261 17:2570464-2570464 17:2667170-2667170
27 PAFAH1B1 NM_000430.4(PAFAH1B1):c.37C>T (p.Arg13Ter) SNV Pathogenic 159516 rs587784262 17:2568670-2568670 17:2665376-2665376
28 PAFAH1B1 NM_000430.4(PAFAH1B1):c.386A>T (p.Asp129Val) SNV Pathogenic 159517 rs587784263 17:2570479-2570479 17:2667185-2667185
29 PAFAH1B1 NM_000430.4(PAFAH1B1):c.399+1G>A SNV Pathogenic 159519 rs587784264 17:2570493-2570493 17:2667199-2667199
30 PAFAH1B1 NM_000430.4(PAFAH1B1):c.3G>A (p.Met1Ile) SNV Pathogenic 159520 rs587784265 17:2541585-2541585 17:2638291-2638291
31 PAFAH1B1 NM_000430.4(PAFAH1B1):c.405G>A (p.Trp135Ter) SNV Pathogenic 159521 rs587784266 17:2573462-2573462 17:2670168-2670168
32 PAFAH1B1 NM_000430.4(PAFAH1B1):c.430C>T (p.Arg144Ter) SNV Pathogenic 159522 rs587784267 17:2573487-2573487 17:2670193-2670193
33 PAFAH1B1 NM_000430.4(PAFAH1B1):c.453_454CT[1] (p.Ser152fs) Microsatellite Pathogenic 159523 rs587784268 17:2573510-2573511 17:2670216-2670217
34 PAFAH1B1 NM_000430.4(PAFAH1B1):c.460C>T (p.Gln154Ter) SNV Pathogenic 159524 rs587784269 17:2573517-2573517 17:2670223-2670223
35 PAFAH1B1 NM_000430.4(PAFAH1B1):c.162del (p.Lys54fs) Deletion Pathogenic 21180 rs113994198 17:2569347-2569347 17:2666053-2666053
36 PAFAH1B1 NM_000430.4(PAFAH1B1):c.569-10T>C SNV Pathogenic 21182 rs113994202 17:2575939-2575939 17:2672645-2672645
37 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1002+5G>A SNV Pathogenic 159486 rs587784235 17:2579905-2579905 17:2676611-2676611
38 PAFAH1B1 NM_000430.4(PAFAH1B1):c.1233A>C (p.Ter411Cys) SNV Pathogenic 159504 rs587784251 17:2585096-2585096 17:2681802-2681802
39 PAFAH1B1 NM_000430.4(PAFAH1B1):c.136_137del (p.Lys46fs) Deletion Pathogenic 159505 rs587784252 17:2569325-2569326 17:2666031-2666032
40 PAFAH1B1 NM_000430.4(PAFAH1B1):c.152del (p.Leu51fs) Deletion Pathogenic 159506 rs587784253 17:2569341-2569341 17:2666047-2666047
41 PAFAH1B1 NM_000430.4(PAFAH1B1):c.163T>A (p.Trp55Arg) SNV Pathogenic 159507 rs587784254 17:2569355-2569355 17:2666061-2666061
42 PAFAH1B1 NM_000430.4(PAFAH1B1):c.524_528del (p.Lys175fs) Deletion Pathogenic 159526 rs587784270 17:2573579-2573583 17:2670285-2670289
43 PAFAH1B1 NM_000430.4(PAFAH1B1):c.537del (p.Gln180fs) Deletion Pathogenic 159527 rs587784271 17:2573591-2573591 17:2670297-2670297
44 PAFAH1B1 NM_000430.4(PAFAH1B1):c.56T>G (p.Leu19Arg) SNV Pathogenic 159529 rs587784272 17:2568689-2568689 17:2665395-2665395
45 PAFAH1B1 NM_000430.4(PAFAH1B1):c.632C>G (p.Ser211Ter) SNV Pathogenic 159530 rs587784273 17:2576012-2576012 17:2672718-2672718
46 PAFAH1B1 NM_000430.4(PAFAH1B1):c.644_651del (p.Thr215fs) Deletion Pathogenic 159531 rs587784274 17:2576018-2576025 17:2672724-2672731
47 PAFAH1B1 NM_000430.4(PAFAH1B1):c.645_646TA[1] (p.Ile216fs) Microsatellite Pathogenic 159532 rs587784275 17:2576025-2576026 17:2672731-2672732
48 PAFAH1B1 NM_000430.4(PAFAH1B1):c.657G>A (p.Trp219Ter) SNV Pathogenic 159533 rs587784276 17:2576037-2576037 17:2672743-2672743
49 PAFAH1B1 NM_000430.4(PAFAH1B1):c.658del (p.Glu220fs) Deletion Pathogenic 159534 rs587784277 17:2576036-2576036 17:2672742-2672742
50 PAFAH1B1 NM_000430.4(PAFAH1B1):c.664C>T (p.Gln222Ter) SNV Pathogenic 159535 rs587784278 17:2576044-2576044 17:2672750-2672750

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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