MCID: FLN007
MIFTS: 14

Flna-Related Periventricular Nodular Heterotopia

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Flna-Related Periventricular Nodular Heterotopia

MalaCards integrated aliases for Flna-Related Periventricular Nodular Heterotopia:

Name: Flna-Related Periventricular Nodular Heterotopia 23
Bilateral Periventricular Nodular Heterotopia 50 24
Periventricular Heterotopia, X-Linked 24 69
X-Linked Periventricular Heterotopia 23 50
Heterotopia Periventricular X-Linked Dominant 50
Nodular Heterotopia Bilateral Periventricular 50
Periventricular Nodular Heterotopia 1 50
Heterotopia Familial Nodular 50
Pvnh1 50
Bpnh 50
Nhbp 50

Characteristics:

GeneReviews:

23
Penetrance Penetrance is unknown. all individuals with known deleterious loss-of-function flna variants have shown periventricular nodular heterotopia...

Classifications:



Summaries for Flna-Related Periventricular Nodular Heterotopia

NIH Rare Diseases : 50 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. last updated: 4/20/2017

MalaCards based summary : Flna-Related Periventricular Nodular Heterotopia, also known as bilateral periventricular nodular heterotopia, is related to heterotopia, periventricular and epilepsy. An important gene associated with Flna-Related Periventricular Nodular Heterotopia is FLNA (Filamin A). Affiliated tissues include brain.

GeneReviews: NBK1213

Related Diseases for Flna-Related Periventricular Nodular Heterotopia

Diseases in the Periventricular Nodular Heterotopia 6 family:

Periventricular Nodular Heterotopia 7 Periventricular Nodular Heterotopia 3
Flna-Related Periventricular Nodular Heterotopia

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

(show all 11)
id Related Disease Score Top Affiliating Genes
1 heterotopia, periventricular 10.8
2 epilepsy 10.1
3 polymicrogyria 10.1
4 megalencephaly 10.1
5 ehlers-danlos syndrome 10.0
6 muscular atrophy 10.0
7 lissencephaly 9.9
8 tuberous sclerosis 9.9
9 cerebritis 9.9
10 learning disability 9.9
11 amniotic band syndrome 9.9

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

Genetic tests related to Flna-Related Periventricular Nodular Heterotopia:

id Genetic test Affiliating Genes
1 Periventricular Heterotopia, X-Linked 24 FLNA

Anatomical Context for Flna-Related Periventricular Nodular Heterotopia

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

39
Brain

Publications for Flna-Related Periventricular Nodular Heterotopia

Articles related to Flna-Related Periventricular Nodular Heterotopia:

id Title Authors Year
1
Atypical male and female presentations of FLNA-related periventricular nodular heterotopia. ( 22366253 )
2012

Variations for Flna-Related Periventricular Nodular Heterotopia

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

6 (show all 38)
id Gene Variation Type Significance SNP ID Assembly Location
1 FLNA NM_001110556.1(FLNA): c.544C> T (p.Gln182Ter) single nucleotide variant Pathogenic rs137853310 GRCh37 Chromosome X, 153596288: 153596288
2 FLNA NM_001110556.1(FLNA): c.720+2T> C single nucleotide variant Pathogenic rs863223295 GRCh37 Chromosome X, 153596007: 153596007
3 FLNA NM_001110556.1(FLNA): c.373+1G> A single nucleotide variant Pathogenic rs863223296 GRCh38 Chromosome X, 154370872: 154370872
4 FLNA NM_001110556.1(FLNA): c.287_291delGGCCC (p.Arg96Hisfs) deletion Pathogenic rs863223297 GRCh37 Chromosome X, 153599323: 153599327
5 FLNA NM_001110556.1(FLNA): c.1966C> T (p.Leu656Phe) single nucleotide variant Pathogenic rs137853311 GRCh37 Chromosome X, 153592950: 153592950
6 FLNA NM_001110556.1(FLNA): c.6915C> G (p.Tyr2305Ter) single nucleotide variant Pathogenic rs781910090 GRCh37 Chromosome X, 153580057: 153580057
7 FLNA NM_001110556.1(FLNA): c.245A> T (p.Glu82Val) single nucleotide variant Pathogenic rs28935169 GRCh37 Chromosome X, 153599369: 153599369
8 FLNA NM_001110556.1(FLNA): c.760G> A (p.Glu254Lys) single nucleotide variant Pathogenic rs28935470 GRCh37 Chromosome X, 153595873: 153595873
9 FLNA FLNA, 1-BP DEL, 2762G deletion Pathogenic
10 FLNA NM_001110556.1(FLNA): c.4147delG (p.Ala1383Leufs) deletion Pathogenic rs863223299 GRCh38 Chromosome X, 154359402: 154359402
11 FLNA NM_001110556.1(FLNA): c.116C> G (p.Ala39Gly) single nucleotide variant Pathogenic rs137853313 GRCh37 Chromosome X, 153599498: 153599498
12 FLNA NM_001110556.1(FLNA): c.383C> T (p.Ala128Val) single nucleotide variant Pathogenic rs137853315 GRCh37 Chromosome X, 153596449: 153596449
13 FLNA NM_001110556.1(FLNA): c.1923C> T (p.Gly641=) single nucleotide variant Pathogenic rs80338841 GRCh37 Chromosome X, 153592993: 153592993
14 FLNA NM_001110556.1(FLNA): c.7896G> A (p.Trp2632Ter) single nucleotide variant Pathogenic rs398122812 GRCh37 Chromosome X, 153577265: 153577265
15 FLNA NM_001110556.1(FLNA): c.2761C> T (p.Arg921Ter) single nucleotide variant Pathogenic rs398123614 GRCh37 Chromosome X, 153590412: 153590412
16 FLNA NM_001110556.1(FLNA): c.3153dupC (p.Val1052Argfs) duplication Pathogenic rs398123616 GRCh37 Chromosome X, 153589730: 153589730
17 FLNA NM_001110556.1(FLNA): c.42delC (p.Ala15Argfs) deletion Pathogenic rs398123619 GRCh37 Chromosome X, 153599572: 153599572
18 FLNA NM_001110556.1(FLNA): c.4447_4448insAT (p.Leu1483Tyrfs) insertion Pathogenic rs398123620 GRCh37 Chromosome X, 153587378: 153587379
19 FLNA NM_001110556.1(FLNA): c.4543C> T (p.Arg1515Ter) single nucleotide variant Pathogenic rs186214592 GRCh37 Chromosome X, 153586868: 153586868
20 FLNA NM_001110556.1(FLNA): c.5132_5133delTCinsAA (p.Phe1711Ter) indel Pathogenic rs398123621 GRCh37 Chromosome X, 153583277: 153583278
21 FLNA NM_001110556.1(FLNA): c.7153C> T (p.Gln2385Ter) single nucleotide variant Pathogenic rs727503931 GRCh38 Chromosome X, 154350912: 154350912
22 FLNA NM_001110556.1(FLNA): c.7757-1G> C single nucleotide variant Pathogenic rs797044496 GRCh37 Chromosome X, 153577405: 153577405
23 FLNA NM_001456.3(FLNA): c.4777_4778dupAA (p.Thr1594Argfs) duplication Pathogenic rs786200973 GRCh37 Chromosome X, 153585969: 153585970
24 FLNA NM_001110556.1(FLNA): c.6635_6638delTCAG (p.Val2212Alafs) deletion Pathogenic rs786205178 GRCh37 Chromosome X, 153580680: 153580683
25 FLNA NM_001110556.1(FLNA): c.6355_6356delAA (p.Lys2119Valfs) deletion Pathogenic rs786205201 GRCh38 Chromosome X, 154352795: 154352796
26 FLNA NM_001110556.1(FLNA): c.2565+1G> C single nucleotide variant Pathogenic rs786205186 GRCh38 Chromosome X, 154362417: 154362417
27 FLNA NM_001110556.1(FLNA): c.1829-2A> G single nucleotide variant Pathogenic rs786205183 GRCh38 Chromosome X, 154364721: 154364721
28 FLNA NM_001110556.1(FLNA): c.1430-1G> T single nucleotide variant Pathogenic rs786205177 GRCh38 Chromosome X, 154365487: 154365487
29 FLNA NM_001110556.1(FLNA): c.4269_4277delCCTCAACGTinsTGGC (p.Leu1424Glyfs) indel Pathogenic rs797044690 GRCh37 Chromosome X, 153587640: 153587648
30 FLNA NM_001110556.1(FLNA): c.5854delG (p.Val1952Serfs) deletion Pathogenic rs797044724 GRCh37 Chromosome X, 153581928: 153581928
31 FLNA NM_001110556.1(FLNA): c.5278C> T (p.Gln1760Ter) single nucleotide variant Pathogenic rs886044824 GRCh37 Chromosome X, 153583019: 153583019
32 FLNA NM_001110556.1(FLNA): c.2339_2340insAA (p.Lys781Thrfs) insertion Pathogenic rs1057515582 GRCh37 Chromosome X, 153591093: 153591094
33 FLNA NM_001110556.1(FLNA): c.2319_2320insAA (p.Val774Lysfs) insertion Pathogenic rs1057515583 GRCh37 Chromosome X, 153591113: 153591114
34 FLNA NM_001110556.1(FLNA): c.2405-2A> G single nucleotide variant Pathogenic rs886044850 GRCh37 Chromosome X, 153590948: 153590948
35 FLNA NM_001110556.1(FLNA): c.4450C> T (p.Gln1484Ter) single nucleotide variant Pathogenic rs1057516198 GRCh38 Chromosome X, 154359008: 154359008
36 FLNA NC_000023.10: g.(?_153576900)_(153599729_?)del deletion Pathogenic GRCh37 Chromosome X, 153576900: 153599729
37 FLNA NM_001456.3(FLNA): c.6700C> T (p.Arg2234Ter) single nucleotide variant Pathogenic rs1060500717 GRCh38 Chromosome X, 154352226: 154352226
38 FLNA NM_001456.3(FLNA): c.5964_5965delCT (p.Cys1989Phefs) deletion Pathogenic rs1060500718 GRCh38 Chromosome X, 154353329: 154353330

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....