BPNH
MCID: FLN007
MIFTS: 28

Flna-Related Periventricular Nodular Heterotopia (BPNH)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Flna-Related Periventricular Nodular Heterotopia

MalaCards integrated aliases for Flna-Related Periventricular Nodular Heterotopia:

Name: Flna-Related Periventricular Nodular Heterotopia 25
X-Linked Periventricular Heterotopia 25 20 6
Bilateral Periventricular Nodular Heterotopia 20
Heterotopia Periventricular X-Linked Dominant 20
Nodular Heterotopia Bilateral Periventricular 20
Periventricular Nodular Heterotopia 1 20
Periventricular Heterotopia, X-Linked 70
Heterotopia Familial Nodular 20
Pvnh1 20
Nhbp 20
Bpnh 20

Characteristics:

GeneReviews:

25
Penetrance Penetrance is unknown. all individuals with known deleterious loss-of-function flna variants have shown periventricular nodular heterotopia.

Classifications:



External Ids:

UMLS 70 C1848213

Summaries for Flna-Related Periventricular Nodular Heterotopia

GARD : 20 X-linked periventricular heterotopia or FLNA -related periventricular nodular heterotopia is a genetic disorder in which nerve cells in the brain do not migrate properly during early fetal development (a neuronal migration disorder ). It is characterized by the presence of clumps of neurons near the brain's ventricles. Most people with this disorder are female, as it can be lethal in males. Symptoms typically begin with seizures in the teenage years. Intelligence is usually normal, but mild intellectual disability (including difficulty with reading and spelling) may occur. People with this condition also appear to be at increased risk for stroke and other vascular or coagulation (clotting) problems. Some people also have hyperflexible joints and vascular anomalies, which also occur in Ehlers-Danlos syndrome (EDS). X-linked periventricular heterotopia is caused by mutations in the FLNA gene and is inherited in an X-linked dominant manner. Treatment depends on the symptoms in each person and typically includes anti-seizure medications. EDS with periventricular heterotopia, previously considered a variant of EDS, is now considered to be the same as X-linked periventricular heterotopia type 1 (PVNH1) and is not included as an EDS subtype under the 2017 classification of EDS.

MalaCards based summary : Flna-Related Periventricular Nodular Heterotopia, also known as x-linked periventricular heterotopia, is related to periventricular nodular heterotopia 1 and periventricular nodular heterotopia. An important gene associated with Flna-Related Periventricular Nodular Heterotopia is FLNA (Filamin A). Affiliated tissues include temporal lobe and cortex.

GeneReviews: NBK1213

Related Diseases for Flna-Related Periventricular Nodular Heterotopia

Diseases in the Periventricular Nodular Heterotopia family:

Periventricular Nodular Heterotopia 1 Periventricular Nodular Heterotopia 3
Periventricular Nodular Heterotopia 6 Periventricular Nodular Heterotopia 7
Periventricular Nodular Heterotopia 8 Periventricular Nodular Heterotopia 9
Flna-Related Periventricular Nodular Heterotopia

Diseases related to Flna-Related Periventricular Nodular Heterotopia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 periventricular nodular heterotopia 1 32.4 LOC107988032 FLNA
2 periventricular nodular heterotopia 30.3 LOC107988032 FLNA
3 periventricular nodular heterotopia 8 10.9
4 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.4
5 epilepsy 10.4
6 polymicrogyria 10.4
7 chromosome 2q35 duplication syndrome 10.3
8 macrocephaly/megalencephaly syndrome, autosomal recessive 10.3
9 cerebellar hypoplasia 10.3
10 megalencephaly 10.3
11 alacrima, achalasia, and mental retardation syndrome 10.3
12 seizure disorder 10.3
13 ehlers-danlos syndrome 10.3
14 hypermobile ehlers-danlos syndrome 10.3
15 frontonasal dysplasia 1 10.2
16 septooptic dysplasia 10.2
17 anencephaly 10.2
18 constricting bands, congenital 10.2
19 dandy-walker syndrome 10.2
20 miller-dieker lissencephaly syndrome 10.2
21 multiple pterygium syndrome, escobar variant 10.2
22 lissencephaly 1 10.2
23 west syndrome 10.2
24 lissencephaly 10.2
25 microcephaly 10.2
26 hydrocephalus 10.2
27 tuberous sclerosis 10.2
28 thrombocytopenia 10.2
29 hypogonadism 10.2
30 craniosynostosis 10.2
31 temporal lobe epilepsy 10.2
32 cataract 10.2
33 learning disability 10.2
34 chromosomal triplication 10.2
35 febrile seizures 10.2
36 neuronal migration disorders 10.2
37 cerebral cortical dysplasia 10.2
38 hypermobility syndrome 10.1
39 muscular atrophy 10.1
40 x-linked otopalatodigital spectrum disorders 10.1
41 intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked 9.8 LOC107988032 FLNA
42 fg syndrome 2 9.8 LOC107988032 FLNA
43 terminal osseous dysplasia 9.8 LOC107988032 FLNA
44 frontometaphyseal dysplasia 1 9.7 LOC107988032 FLNA
45 frontometaphyseal dysplasia 9.7 LOC107988032 FLNA
46 otopalatodigital syndrome, type ii 9.7 LOC107988032 FLNA
47 cardiac valvular dysplasia, x-linked 9.7 LOC107988032 FLNA
48 oto-palatal-digital syndrome 9.7 LOC107988032 FLNA
49 melnick-needles syndrome 9.6 LOC107988032 FLNA
50 blood group, i system 9.6 LOC107988032 FLNA

Graphical network of the top 20 diseases related to Flna-Related Periventricular Nodular Heterotopia:



Diseases related to Flna-Related Periventricular Nodular Heterotopia

Symptoms & Phenotypes for Flna-Related Periventricular Nodular Heterotopia

Drugs & Therapeutics for Flna-Related Periventricular Nodular Heterotopia

Search Clinical Trials , NIH Clinical Center for Flna-Related Periventricular Nodular Heterotopia

Genetic Tests for Flna-Related Periventricular Nodular Heterotopia

Anatomical Context for Flna-Related Periventricular Nodular Heterotopia

MalaCards organs/tissues related to Flna-Related Periventricular Nodular Heterotopia:

40
Temporal Lobe, Cortex

Publications for Flna-Related Periventricular Nodular Heterotopia

Articles related to Flna-Related Periventricular Nodular Heterotopia:

(show top 50) (show all 73)
# Title Authors PMID Year
1
Novel no-stop FLNA mutation causes multi-organ involvement in males. 6 25
23873601 2013
2
Combined cardiological and neurological abnormalities due to filamin A gene mutation. 6 25
20730588 2011
3
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. 6 25
16684786 2006
4
A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. 25 6
16299064 2006
5
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. 6 25
15668422 2005
6
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 25 6
12612583 2003
7
Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. 25 6
11914408 2002
8
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. 6 25
11532987 2001
9
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. 6 25
9883725 1998
10
Periventricular heterotopia and epilepsy. 25 6
8290091 1994
11
Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings. 6
30561107 2019
12
Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 6
29706646 2018
13
Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αIIbβ3 Activation. 6
28428218 2017
14
Terminal osseous dysplasia with pigmentary defects; Case and brief review of filamin A-related disorders. 6
26061098 2016
15
A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation. 6
26804200 2016
16
Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R. 6
26686323 2016
17
47 patients with FLNA associated periventricular nodular heterotopia. 6
26471271 2015
18
Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects. 6
26059211 2015
19
Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA. 6
25686753 2015
20
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. 6
25741868 2015
21
Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation. 6
25614868 2014
22
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A. 61 25
23032111 2013
23
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. 6
20598277 2010
24
Novel cardiac findings in periventricular nodular heterotopia. 6
20014127 2010
25
Filamin A mutation is one cause of FG syndrome. 6
17632775 2007
26
A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation. 6
17264970 2007
27
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. 6
16835913 2006
28
Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. 6
16596676 2006
29
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. 6
15994863 2006
30
Periventricular heterotopia: new insights into Ehlers-Danlos syndrome. 6
16303888 2005
31
A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation. 6
15523633 2005
32
Molecular pathology of filamin A: diverse phenotypes, many functions. 6
15194946 2004
33
RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. 6
3658675 1987
34
Filamin A mutation may be associated with diffuse lung disease mimicking bronchopulmonary dysplasia in premature newborns. 25
25053830 2014
35
Somatic mutations in cerebral cortical malformations. 25
25140959 2014
36
Screening of TGFBR1, TGFBR2, and FLNA in familial mitral valve prolapse. 25
24243761 2014
37
FLNA genomic rearrangements cause periventricular nodular heterotopia. 25
22238415 2012
38
Familial cardiac valvulopathy due to filamin A mutation. 25
21815255 2011
39
Lung disease associated with periventricular nodular heterotopia and an FLNA mutation. 25
20888935 2011
40
Allelic diversity in human developmental neurogenetics: insights into biology and disease. 25
20955932 2010
41
Movement disorder and neuronal migration disorder due to ARFGEF2 mutation. 25
19384555 2009
42
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. 25
19073947 2009
43
Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia. 25
18996916 2009
44
A structural basis for reading fluency: white matter defects in a genetic brain malformation. 25
18056578 2007
45
Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis. 25
17172441 2006
46
Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia. 25
16835933 2006
47
Periventricular heterotopia in fragile X syndrome. 25
16924033 2006
48
Filamin a, periventricular nodular heterotopia, and West syndrome. 25
16822260 2006
49
Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males. 25
16596669 2006
50
Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males. 25
16417552 2006

Variations for Flna-Related Periventricular Nodular Heterotopia

ClinVar genetic disease variations for Flna-Related Periventricular Nodular Heterotopia:

6 (show top 50) (show all 781)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLNA NC_000023.10:g.(?_153576900)_(153599729_?)del Deletion Pathogenic 417354 GRCh37: X:153576900-153599729
GRCh38:
2 FLNA NM_001110556.2(FLNA):c.544C>T (p.Gln182Ter) SNV Pathogenic 11747 rs137853310 GRCh37: X:153596288-153596288
GRCh38: X:154367920-154367920
3 FLNA NM_001110556.2(FLNA):c.720+2T>C SNV Pathogenic 11748 rs863223295 GRCh37: X:153596007-153596007
GRCh38: X:154367639-154367639
4 FLNA NM_001110556.2(FLNA):c.623-3C>G SNV Pathogenic 11749 rs398123622 GRCh37: X:153596109-153596109
GRCh38: X:154367741-154367741
5 FLNA NM_001110556.2(FLNA):c.373+1G>A SNV Pathogenic 11750 rs863223296 GRCh37: X:153599240-153599240
GRCh38: X:154370872-154370872
6 FLNA NM_001110556.2(FLNA):c.287_291del (p.Arg96fs) Deletion Pathogenic 11751 rs863223297 GRCh37: X:153599323-153599327
GRCh38: X:154370955-154370959
7 FLNA NM_001110556.2(FLNA):c.1966C>T (p.Leu656Phe) SNV Pathogenic 11752 rs137853311 GRCh37: X:153592950-153592950
GRCh38: X:154364582-154364582
8 FLNA NM_001110556.2(FLNA):c.6915C>G (p.Tyr2305Ter) SNV Pathogenic 11753 rs781910090 GRCh37: X:153580057-153580057
GRCh38: X:154351689-154351689
9 FLNA NM_001110556.2(FLNA):c.245A>T (p.Glu82Val) SNV Pathogenic 11754 rs28935169 GRCh37: X:153599369-153599369
GRCh38: X:154371001-154371001
10 FLNA NM_001110556.2(FLNA):c.2762del (p.Arg921fs) Deletion Pathogenic 11763 rs1569551736 GRCh37: X:153590411-153590411
GRCh38: X:154362043-154362043
11 FLNA NM_001110556.2(FLNA):c.4147del (p.Ala1383fs) Deletion Pathogenic 11764 rs863223299 GRCh37: X:153587770-153587770
GRCh38: X:154359402-154359402
12 FLNA NM_001110556.2(FLNA):c.116C>G (p.Ala39Gly) SNV Pathogenic 11765 rs137853313 GRCh37: X:153599498-153599498
GRCh38: X:154371130-154371130
13 FLNA NM_001110556.2(FLNA):c.383C>T (p.Ala128Val) SNV Pathogenic 11767 rs137853315 GRCh37: X:153596449-153596449
GRCh38: X:154368081-154368081
14 FLNA NM_001110556.2(FLNA):c.1430-1G>T SNV Pathogenic 190178 rs786205177 GRCh37: X:153593855-153593855
GRCh38: X:154365487-154365487
15 FLNA NM_001110556.2(FLNA):c.1829-2A>G SNV Pathogenic 190184 rs786205183 GRCh37: X:153593089-153593089
GRCh38: X:154364721-154364721
16 FLNA NM_001110556.2(FLNA):c.2565+1G>C SNV Pathogenic 190187 rs786205186 GRCh37: X:153590785-153590785
GRCh38: X:154362417-154362417
17 FLNA NM_001110556.2(FLNA):c.4446_4447dup (p.Leu1483fs) Duplication Pathogenic 93761 rs398123620 GRCh37: X:153587378-153587379
GRCh38: X:154359010-154359011
18 FLNA NM_001110556.2(FLNA):c.6355_6356del (p.Lys2119fs) Deletion Pathogenic 190202 rs786205201 GRCh37: X:153581163-153581164
GRCh38: X:154352795-154352796
19 FLNA NM_001110556.2(FLNA):c.82A>G (p.Met28Val) SNV Pathogenic 488068 rs1557180226 GRCh37: X:153599532-153599532
GRCh38: X:154371164-154371164
20 FLNA NM_001110556.2(FLNA):c.1065G>A (p.Lys355=) SNV Pathogenic 488067 rs1557179325 GRCh37: X:153594930-153594930
GRCh38: X:154366562-154366562
21 FLNA NM_001110556.2(FLNA):c.4450C>T (p.Gln1484Ter) SNV Pathogenic 369957 rs1057516198 GRCh37: X:153587376-153587376
GRCh38: X:154359008-154359008
22 FLNA NM_001110556.2(FLNA):c.6724C>T (p.Arg2242Ter) SNV Pathogenic 405446 rs1060500717 GRCh37: X:153580594-153580594
GRCh38: X:154352226-154352226
23 FLNA NM_001110556.2(FLNA):c.138_139dup (p.Asn47fs) Duplication Pathogenic 976300 GRCh37: X:153599474-153599475
GRCh38: X:154371106-154371107
24 FLNA NM_001110556.2(FLNA):c.7021C>T (p.Gln2341Ter) SNV Pathogenic 807601 rs1603358919 GRCh37: X:153579951-153579951
GRCh38: X:154351583-154351583
25 FLNA NM_001110556.2(FLNA):c.5796del (p.Asp1931_Tyr1932insTer) Deletion Pathogenic 1012290 GRCh37: X:153581986-153581986
GRCh38: X:154353618-154353618
26 FLNA NM_001110556.2(FLNA):c.1923C>T (p.Gly641=) SNV Pathogenic 11770 rs80338841 GRCh37: X:153592993-153592993
GRCh38: X:154364625-154364625
27 FLNA NM_001110556.2(FLNA):c.6635_6638del (p.Val2212fs) Deletion Pathogenic 190179 rs786205178 GRCh37: X:153580680-153580683
GRCh38: X:154352312-154352315
28 FLNA NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu) SNV Pathogenic 405445 rs1060500716 GRCh37: X:153588495-153588495
GRCh38: X:154360127-154360127
29 FLNA NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs) Deletion Pathogenic 405447 rs1060500718 GRCh37: X:153581697-153581698
GRCh38: X:154353329-154353330
30 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs) Insertion Pathogenic 453200 rs1557175195 GRCh37: X:153577381-153577382
GRCh38: X:154349013-154349014
31 FLNA NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs) Deletion Pathogenic 464997 rs1557177086 GRCh37: X:153585895-153585907
GRCh38: X:154357527-154357539
32 FLNA NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer) Duplication Pathogenic 465027 rs1557179357 GRCh37: X:153594986-153594987
GRCh38: X:154366618-154366619
33 FLNA NM_001110556.2(FLNA):c.2280+389T>A SNV Pathogenic 488069 rs1557178535 GRCh37: X:153592001-153592001
GRCh38: X:154363633-154363633
34 FLNA NM_001110556.2(FLNA):c.853C>T (p.Arg285Cys) SNV Pathogenic 488066 rs1557179536 GRCh37: X:153595780-153595780
GRCh38: X:154367412-154367412
35 FLNA NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter) SNV Pathogenic 533562 rs1557177738 GRCh37: X:153588634-153588634
GRCh38: X:154360266-154360266
36 FLNA NM_001110556.2(FLNA):c.3814del (p.Arg1272fs) Deletion Pathogenic 533585 rs1557177636 GRCh37: X:153588265-153588265
GRCh38: X:154359897-154359897
37 FLNA NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) SNV Pathogenic 11761 rs137853312 GRCh37: X:153588606-153588606
GRCh38: X:154360238-154360238
38 FLNA NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter) SNV Pathogenic 574177 rs1557177623 GRCh37: X:153588214-153588214
GRCh38: X:154359846-154359846
39 FLNA NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter) SNV Pathogenic 580826 rs1569551861 GRCh37: X:153596053-153596053
GRCh38: X:154367685-154367685
40 FLNA NM_001110556.2(FLNA):c.5643del (p.Asn1881fs) Deletion Pathogenic 575768 rs1569551502 GRCh37: X:153582326-153582326
GRCh38: X:154353958-154353958
41 FLNA NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) SNV Pathogenic 209154 rs797045044 GRCh37: X:153586596-153586596
GRCh38: X:154358228-154358228
42 FLNA NM_001110556.2(FLNA):c.5879dup (p.Met1960fs) Duplication Pathogenic 647567 rs1603359464 GRCh37: X:153581806-153581807
GRCh38: X:154353438-154353439
43 FLNA NM_001110556.2(FLNA):c.2565+1G>A SNV Pathogenic 575118 rs786205186 GRCh37: X:153590785-153590785
GRCh38: X:154362417-154362417
44 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs) Deletion Pathogenic 652215 rs1603358246 GRCh37: X:153577288-153577289
GRCh38: X:154348920-154348921
45 FLNA NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs) Indel Pathogenic 662513 rs1603361195 GRCh37: X:153588859-153588867
GRCh38: X:154360491-154360499
46 FLNA NM_001110556.2(FLNA):c.2452del (p.Ala818fs) Deletion Pathogenic 659278 rs1603361851 GRCh37: X:153590899-153590899
GRCh38: X:154362531-154362531
47 FLNA NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter) SNV Pathogenic 853726 GRCh37: X:153594961-153594961
GRCh38: X:154366593-154366593
48 FLNA NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter) SNV Pathogenic 856285 GRCh37: X:153582022-153582022
GRCh38: X:154353654-154353654
49 FLNA NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter) SNV Pathogenic 864458 GRCh37: X:153594745-153594745
GRCh38: X:154366377-154366377
50 FLNA NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=) SNV Pathogenic 11775 rs387907371 GRCh37: X:153583193-153583193
GRCh38: X:154354825-154354825

Expression for Flna-Related Periventricular Nodular Heterotopia

Search GEO for disease gene expression data for Flna-Related Periventricular Nodular Heterotopia.

Pathways for Flna-Related Periventricular Nodular Heterotopia

GO Terms for Flna-Related Periventricular Nodular Heterotopia

Sources for Flna-Related Periventricular Nodular Heterotopia

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