PVNH1
MCID: PRV019
MIFTS: 36

Periventricular Nodular Heterotopia 1 (PVNH1)

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

Aliases & Classifications for Periventricular Nodular Heterotopia 1

MalaCards integrated aliases for Periventricular Nodular Heterotopia 1:

Name: Periventricular Nodular Heterotopia 1 56 73 29 6
Heterotopia, Periventricular, Ehlers-Danlos Variant 56 71
Pvnh1 56 73
Nhbp 56 73
Periventricular Nodular Heterotopia 4, Formerly; Pvnh4, Formerly 56
Nodular Heterotopia, Bilateral Periventricular; Nhbp; Bpnh 56
Periventricular Heterotopia Ehlers-Danlos Variant 73
Heterotopia, Periventricular, X-Linked Dominant 56
Periventricular Nodular Heterotopia 4, Formerly 56
Nodular Heterotopia, Bilateral Periventricular 56
Nodular Heterotopia Bilateral Periventricular 73
Periventricular Heterotopia X-Linked Dominant 73
Periventricular Nodular Heterotopia 4 73
Periventricular Heterotopia, X-Linked 71
Heterotopia, Periventricular, Type 1 39
Heterotopia, Periventricular, 1 56
Heterotopia, Familial Nodular 56
Familial Nodular Heterotopia 73
Pvnh4, Formerly 56
Pvnh4 73
Bpnh 73

Characteristics:

OMIM:

56
Inheritance:
x-linked dominant

Miscellaneous:
prenatal or perinatal lethality in hemizygous males
often confused with tuberous sclerosis
otopalatodigital syndrome type i (opd1, ) is an allelic disorder
otopalatodigital syndrome type ii (opd2, ) is an allelic disorder
frontometaphyseal dysplasia (fmd, ) is an allelic disorder
melnick-needles syndrome (mns, ) is an allelic disorder


HPO:

31
periventricular nodular heterotopia 1:
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 56 300049
OMIM Phenotypic Series 56 PS300049
MeSH 43 D054091
UMLS 71 C1845235 C1848213

Summaries for Periventricular Nodular Heterotopia 1

OMIM : 56 Periventricular nodular heterotopia is a disorder of neuronal migration in which neurons fail to migrate appropriately from the ventricular zone to the cortex during development, resulting in the formation of nodular brain tissue lining the ventricles. Most affected individuals with the X-linked form are female, while hemizygous males tend to die in utero. Affected females usually present with epilepsy, but have normal intelligence. Additional features include defects of the cardiovascular system, such as patent ductus arteriosus, bicuspid aortic valve, and dilation of the sinuses of Valsalva or the thoracic aorta (summary by Fox et al., 1998). Several patients with PVNH and mutations in the FLNA gene have been reported with a spectrum of connective tissue abnormalities characterized by combinations of vascular, cardiac, cutaneous, and joint-related symptoms (summary by Reinstein et al., 2013). (300049)

MalaCards based summary : Periventricular Nodular Heterotopia 1, also known as heterotopia, periventricular, ehlers-danlos variant, is related to periventricular nodular heterotopia and flna-related periventricular nodular heterotopia. An important gene associated with Periventricular Nodular Heterotopia 1 is FLNA (Filamin A). Affiliated tissues include cortex and brain, and related phenotypes are seizures and intellectual disability, mild

UniProtKB/Swiss-Prot : 73 Periventricular nodular heterotopia 1: A developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH1 is an X-linked dominant form. Heterozygous females have normal intelligence but suffer from seizures and various manifestations outside the central nervous system, especially related to the vascular system. Hemizygous affected males die in the prenatal or perinatal period.

Related Diseases for Periventricular Nodular Heterotopia 1

Graphical network of the top 20 diseases related to Periventricular Nodular Heterotopia 1:



Diseases related to Periventricular Nodular Heterotopia 1

Symptoms & Phenotypes for Periventricular Nodular Heterotopia 1

Human phenotypes related to Periventricular Nodular Heterotopia 1:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 intellectual disability, mild 31 HP:0001256
3 patent ductus arteriosus 31 HP:0001643
4 bicuspid aortic valve 31 HP:0001647
5 abnormality of neuronal migration 31 HP:0002269
6 stroke 31 HP:0001297
7 abnormality of the coagulation cascade 31 HP:0003256
8 gray matter heterotopia 31 HP:0002282

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Vascular:
patent ductus arteriosus
dilation of the sinuses of valsalva
dilation of the thoracic aorta

Neurologic Central Nervous System:
mental retardation, mild (in some patients)
seizures, refractory to treatment
imaging shows noncalcified subependymal periventricular heterotopic nodules of gray matter
strokes due to coagulopathy
neuronal migration disorder

Cardiovascular Heart:
bicuspid aortic valve

Hematology:
coagulopathy

Clinical features from OMIM:

300049

Drugs & Therapeutics for Periventricular Nodular Heterotopia 1

Search Clinical Trials , NIH Clinical Center for Periventricular Nodular Heterotopia 1

Genetic Tests for Periventricular Nodular Heterotopia 1

Genetic tests related to Periventricular Nodular Heterotopia 1:

# Genetic test Affiliating Genes
1 Periventricular Nodular Heterotopia 1 29 FLNA

Anatomical Context for Periventricular Nodular Heterotopia 1

MalaCards organs/tissues related to Periventricular Nodular Heterotopia 1:

40
Cortex, Brain

Publications for Periventricular Nodular Heterotopia 1

Articles related to Periventricular Nodular Heterotopia 1:

(show all 40)
# Title Authors PMID Year
1
Novel cardiac findings in periventricular nodular heterotopia. 56 6
20014127 2010
2
Filamin A mutation is one cause of FG syndrome. 6 56
17632775 2007
3
A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. 56 6
16299064 2006
4
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. 6 56
15994863 2006
5
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. 6 56
15668422 2005
6
Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. 6 56
11914408 2002
7
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. 6 56
9883725 1998
8
Periventricular heterotopia and epilepsy. 6 56
8290091 1994
9
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A. 56
23032111 2013
10
Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia. 56
15459826 2004
11
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. 56
15249610 2004
12
A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts. 56
14988809 2004
13
Functional imaging in PNH caused by a new FilaminA mutation. 56
14718723 2004
14
FLNA-Related Periventricular Nodular Heterotopia 6
20301392 2002
15
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. 6
11532987 2001
16
X-linked subcortical laminar heterotopia and lissencephaly: a new family. 56
9810565 1998
17
Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation. 56
9710025 1998
18
Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia. 56
9311743 1997
19
Ehlers-Danlos syndrome with subependymal periventricular heterotopias. 56
8780115 1996
20
Familial bilateral periventricular nodular heterotopia mimics tuberous sclerosis. 56
8787433 1996
21
Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development. 56
8562093 1996
22
Xq-Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq- karyotype. 56
7874166 1994
23
Subependymal heterotopia: a distinct neuronal migration disorder associated with epilepsy. 56
7931380 1994
24
Hereditary nodular heterotopia accompanied by mega cisterna magna. 56
8213918 1993
25
Familial periventricular nodular heterotopia. 56
8214353 1993
26
Corpus callosum agenesis in two male infants of a heterozygotic triplet pregnancy. 56
7505592 1993
27
Corpus callosum agenesis, spastic quadriparesis and irregular lining of the lateral ventricles on CT-scan. A distinct X-linked mental retardation syndrome? 56
2081003 1990
28
RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. 6
3658675 1987
29
Ehlers-Danlos syndrome with abnormal collagen fibrils, sinus of Valsalva aneurysms, myocardial infarction, panacinar emphysema and cerebral heterotopias. 56
7315850 1981
30
Impact of urbanization factors on mortality due to unintentional injuries using panel data regression model and spatial-temporal analysis. 61
31838677 2019
31
Photothermal/pH Dual-Responsive Drug Delivery System of Amino-Terminated HBP-Modified rGO and the Chemo-Photothermal Therapy on Tumor Cells. 61
30470923 2018
32
ECG parameters to predict left ventricular electrical delay. 61
30177325 2018
33
Association of night-time home blood pressure with night-time ambulatory blood pressure and target-organ damage: a systematic review and meta-analysis. 61
27930440 2017
34
[Field observation on the effect of low-sodium and high-potassium salt substitute on blood pressure in the rural community-based population in China]. 61
22340870 2011
35
Prevention of carbon nanohorn agglomeration using a conjugate composed of comb-shaped polyethylene glycol and a peptide aptamer. 61
19718797 2009
36
Seminal plasma non-heparin binding proteins (NHBP) reduce the cryoinjury to buffalo cauda epididymal spermatozoa induced by heparin binding proteins (HBP). 61
17433582 2008
37
Dispersion of cisplatin-loaded carbon nanohorns with a conjugate comprised of an artificial peptide aptamer and polyethylene glycol. 61
17685580 2007
38
Conversion of a monodispersed globular protein into an amyloid-like filament by appending an artificial peptide at the N-terminal. 61
17293372 2007
39
The presence of contractile reserve has no predictive value for the evolution of left ventricular function following atrio-ventricular node ablation in patients with permanent atrial fibrillation. 61
15975852 2005
40
The effects of acute hypercortisolemia on beta-hydroxybutyrate and glycerol metabolism during insulin deficiency. 61
7908656 1994

Variations for Periventricular Nodular Heterotopia 1

ClinVar genetic disease variations for Periventricular Nodular Heterotopia 1:

6 (show top 50) (show all 462) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FLNA NM_001110556.2(FLNA):c.373+1G>ASNV Pathogenic 11750 rs863223296 X:153599240-153599240 X:154370872-154370872
2 FLNA NM_001110556.2(FLNA):c.287_291del (p.Arg96fs)deletion Pathogenic 11751 rs863223297 X:153599323-153599327 X:154370955-154370959
3 FLNA NM_001110556.2(FLNA):c.1966C>T (p.Leu656Phe)SNV Pathogenic 11752 rs137853311 X:153592950-153592950 X:154364582-154364582
4 FLNA NM_001110556.2(FLNA):c.6915C>G (p.Tyr2305Ter)SNV Pathogenic 11753 rs781910090 X:153580057-153580057 X:154351689-154351689
5 FLNA NM_001110556.2(FLNA):c.245A>T (p.Glu82Val)SNV Pathogenic 11754 rs28935169 X:153599369-153599369 X:154371001-154371001
6 FLNA NM_001110556.2(FLNA):c.2762del (p.Arg921fs)deletion Pathogenic 11763 rs1569551736 X:153590411-153590411 X:154362043-154362043
7 FLNA NM_001110556.2(FLNA):c.4147del (p.Ala1383fs)deletion Pathogenic 11764 rs863223299 X:153587770-153587770 X:154359402-154359402
8 FLNA NM_001110556.2(FLNA):c.116C>G (p.Ala39Gly)SNV Pathogenic 11765 rs137853313 X:153599498-153599498 X:154371130-154371130
9 FLNA NM_001110556.2(FLNA):c.383C>T (p.Ala128Val)SNV Pathogenic 11767 rs137853315 X:153596449-153596449 X:154368081-154368081
10 FLNA NM_001110556.2(FLNA):c.1923C>T (p.Gly641=)SNV Pathogenic 11770 rs80338841 X:153592993-153592993 X:154364625-154364625
11 FLNA NM_001110556.2(FLNA):c.544C>T (p.Gln182Ter)SNV Pathogenic 11747 rs137853310 X:153596288-153596288 X:154367920-154367920
12 FLNA NM_001110556.2(FLNA):c.720+2T>CSNV Pathogenic 11748 rs863223295 X:153596007-153596007 X:154367639-154367639
13 FLNA NM_001110556.2(FLNA):c.7896G>A (p.Trp2632Ter)SNV Pathogenic 29928 rs398122812 X:153577265-153577265 X:154348897-154348897
14 FLNA NM_001110556.2(FLNA):c.4446_4447dup (p.Leu1483fs)duplication Pathogenic 93761 rs398123620 X:153587378-153587379 X:154359010-154359011
15 FLNA NM_001110556.2(FLNA):c.2565+1G>CSNV Pathogenic 190187 rs786205186 X:153590785-153590785 X:154362417-154362417
16 FLNA NM_001110556.2(FLNA):c.6635_6638del (p.Val2212fs)deletion Pathogenic 190179 rs786205178 X:153580680-153580683 X:154352312-154352315
17 FLNA NM_001110556.2(FLNA):c.6355_6356del (p.Lys2119fs)deletion Pathogenic 190202 rs786205201 X:153581163-153581164 X:154352795-154352796
18 FLNA NM_001110556.2(FLNA):c.1829-2A>GSNV Pathogenic 190184 rs786205183 X:153593089-153593089 X:154364721-154364721
19 FLNA NM_001110556.2(FLNA):c.1430-1G>TSNV Pathogenic 190178 rs786205177 X:153593855-153593855 X:154365487-154365487
20 FLNA NM_001110556.2(FLNA):c.4450C>T (p.Gln1484Ter)SNV Pathogenic 369957 rs1057516198 X:153587376-153587376 X:154359008-154359008
21 FLNA NC_000023.10:g.(?_153576900)_(153599729_?)deldeletion Pathogenic 417354 X:153576900-153599729
22 FLNA NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu)SNV Pathogenic 405445 rs1060500716 X:153588495-153588495 X:154360127-154360127
23 FLNA NM_001110556.2(FLNA):c.6724C>T (p.Arg2242Ter)SNV Pathogenic 405446 rs1060500717 X:153580594-153580594 X:154352226-154352226
24 FLNA NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs)deletion Pathogenic 405447 rs1060500718 X:153581697-153581698 X:154353329-154353330
25 FLNA NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs)deletion Pathogenic 464997 rs1557177086 X:153585895-153585907 X:154357527-154357539
26 FLNA NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer)duplication Pathogenic 465027 rs1557179357 X:153594987-153594996 X:154366619-154366628
27 FLNA NM_001110556.2(FLNA):c.82A>G (p.Met28Val)SNV Pathogenic 488068 rs1557180226 X:153599532-153599532 X:154371164-154371164
28 FLNA NM_001110556.2(FLNA):c.2280+389T>ASNV Pathogenic 488069 rs1557178535 X:153592001-153592001 X:154363633-154363633
29 FLNA NM_001110556.2(FLNA):c.1065G>A (p.Lys355=)SNV Pathogenic 488067 rs1557179325 X:153594930-153594930 X:154366562-154366562
30 FLNA NM_001110556.2(FLNA):c.3814del (p.Arg1272fs)deletion Pathogenic 533585 rs1557177636 X:153588265-153588265 X:154359897-154359897
31 FLNA NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter)SNV Pathogenic 533562 rs1557177738 X:153588634-153588634 X:154360266-154360266
32 FLNA NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter)SNV Pathogenic 574177 rs1557177623 X:153588214-153588214 X:154359846-154359846
33 FLNA NM_001110556.2(FLNA):c.5643del (p.Asn1881fs)deletion Pathogenic 575768 rs1569551502 X:153582326-153582326 X:154353958-154353958
34 FLNA NM_001110556.2(FLNA):c.2565+1G>ASNV Pathogenic 575118 X:153590785-153590785 X:154362417-154362417
35 FLNA NM_001110556.2(FLNA):c.5879dup (p.Met1960fs)duplication Pathogenic 647567 X:153581807-153581807 X:154353439-154353439
36 FLNA NM_001110556.2(FLNA):c.2452del (p.Ala818fs)deletion Pathogenic 659278 X:153590899-153590899 X:154362531-154362531
37 FLNA NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs)deletion Pathogenic 652215 X:153577288-153577289 X:154348923-154348924
38 FLNA NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs)indel Pathogenic 662513 X:153588859-153588867 X:154360491-154360499
39 FLNA NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter)SNV Pathogenic/Likely pathogenic 580826 rs1569551861 X:153596053-153596053 X:154367685-154367685
40 FLNA NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu)SNV Pathogenic/Likely pathogenic 11761 rs137853312 X:153588606-153588606 X:154360238-154360238
41 FLNA NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg)SNV Pathogenic/Likely pathogenic 209154 rs797045044 X:153586596-153586596 X:154358228-154358228
42 FLNA NM_001110556.2(FLNA):c.137del (p.Gln46fs)deletion Likely pathogenic 190182 rs786205181 X:153599477-153599477 X:154371109-154371109
43 FLNA NM_001110556.2(FLNA):c.1061_1065del (p.His354fs)deletion Likely pathogenic 190181 rs786205180 X:153594930-153594934 X:154366562-154366566
44 FLNA NM_001110556.2(FLNA):c.1045G>T (p.Glu349Ter)SNV Likely pathogenic 190180 rs370490152 X:153594950-153594950 X:154366582-154366582
45 FLNA NM_001110556.2(FLNA):c.987+1G>ASNV Likely pathogenic 190205 rs786205204 X:153595099-153595099 X:154366731-154366731
46 FLNA NM_001110556.2(FLNA):c.732dup (p.Glu245fs)duplication Likely pathogenic 190204 rs786205203 X:153595901-153595901 X:154367533-154367533
47 FLNA NM_001110556.2(FLNA):c.1722T>A (p.Cys574Ter)SNV Likely pathogenic 190183 rs786205182 X:153593295-153593295 X:154364927-154364927
48 FLNA NM_001110556.2(FLNA):c.5019_5020TG[1] (p.Val1674fs)short repeat Likely pathogenic 190200 rs786205199 X:153583388-153583389 X:154355020-154355021
49 FLNA NM_001110556.2(FLNA):c.4943del (p.Thr1648fs)deletion Likely pathogenic 190199 rs786205198 X:153585804-153585804 X:154357436-154357436
50 FLNA NM_001110556.2(FLNA):c.4935C>A (p.Cys1645Ter)SNV Likely pathogenic 190198 rs786205197 X:153585812-153585812 X:154357444-154357444

UniProtKB/Swiss-Prot genetic disease variations for Periventricular Nodular Heterotopia 1:

73
# Symbol AA change Variation ID SNP ID
1 FLNA p.Leu656Phe VAR_012834 rs137853311
2 FLNA p.Glu82Val VAR_015699 rs28935169
3 FLNA p.Ala39Gly VAR_022734 rs137853313
4 FLNA p.Met102Val VAR_031305
5 FLNA p.Ala128Val VAR_031306 rs137853315
6 FLNA p.Ser149Phe VAR_031307

Expression for Periventricular Nodular Heterotopia 1

Search GEO for disease gene expression data for Periventricular Nodular Heterotopia 1.

Pathways for Periventricular Nodular Heterotopia 1

GO Terms for Periventricular Nodular Heterotopia 1

Sources for Periventricular Nodular Heterotopia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....