MCID: FLN007
MIFTS: 12

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
X-Linked Periventricular Heterotopia 23 49
Bilateral Periventricular Nodular Heterotopia 49
Heterotopia Periventricular X-Linked Dominant 49
Nodular Heterotopia Bilateral Periventricular 49
Periventricular Nodular Heterotopia 1 49
Periventricular Heterotopia, X-Linked 69
Heterotopia Familial Nodular 49
Pvnh1 49
Nhbp 49
Bpnh 49

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 : 49 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 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 brain.

GeneReviews: NBK1213

Related Diseases for Flna-Related Periventricular Nodular Heterotopia

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

# Related Disease Score Top Affiliating Genes
1 periventricular nodular heterotopia 1 11.1
2 periventricular nodular heterotopia 10.2
3 ehlers-danlos syndrome 10.1
4 muscular atrophy 10.1

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:

38
Brain

Publications for Flna-Related Periventricular Nodular Heterotopia

Articles related to Flna-Related Periventricular Nodular Heterotopia:

# 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 45)
# 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.3668C> T (p.Pro1223Leu) single nucleotide variant Pathogenic rs1060500716 GRCh38 Chromosome X, 154360127: 154360127
38 FLNA NM_001456.3(FLNA): c.6700C> T (p.Arg2234Ter) single nucleotide variant Pathogenic rs1060500717 GRCh38 Chromosome X, 154352226: 154352226
39 FLNA NM_001456.3(FLNA): c.5964_5965delCT (p.Cys1989Phefs) deletion Pathogenic rs1060500718 GRCh38 Chromosome X, 154353329: 154353330
40 FLNA NM_001456.3(FLNA): c.4840_4852delGGTCGCTACACCA (p.Gly1614Serfs) deletion Pathogenic GRCh38 Chromosome X, 154357527: 154357539
41 FLNA NM_001110556.1(FLNA): c.999_1008dup (p.Asp337Argfs) duplication Pathogenic GRCh37 Chromosome X, 153594987: 153594996
42 FLNA NM_001110556.1(FLNA): c.2280+389T> A single nucleotide variant Pathogenic GRCh38 Chromosome X, 154363633: 154363633
43 FLNA NM_001110556.1(FLNA): c.1065G> A (p.Lys355=) single nucleotide variant Pathogenic GRCh37 Chromosome X, 153594930: 153594930
44 FLNA NM_001110556.1(FLNA): c.853C> T (p.Arg285Cys) single nucleotide variant Pathogenic GRCh37 Chromosome X, 153595780: 153595780
45 FLNA NM_001110556.1(FLNA): c.82A> G (p.Met28Val) single nucleotide variant Pathogenic GRCh37 Chromosome X, 153599532: 153599532

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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