PVNH1
MCID: PRV019
MIFTS: 31

Periventricular Nodular Heterotopia 1 (PVNH1)

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Periventricular Nodular Heterotopia 1

MalaCards integrated aliases for Periventricular Nodular Heterotopia 1:

Name: Periventricular Nodular Heterotopia 1 58 76 30 6
Heterotopia, Periventricular, Ehlers-Danlos Variant 58 74
Pvnh1 58 76
Nhbp 58 76
Periventricular Nodular Heterotopia 4, Formerly; Pvnh4, Formerly 58
Nodular Heterotopia, Bilateral Periventricular; Nhbp; Bpnh 58
Ehlers-Danlos Syndrome with Periventricular Heterotopia 60
Periventricular Heterotopia Ehlers-Danlos Variant 76
Heterotopia, Periventricular, X-Linked Dominant 58
Periventricular Nodular Heterotopia 4, Formerly 58
Nodular Heterotopia, Bilateral Periventricular 58
Nodular Heterotopia Bilateral Periventricular 76
Periventricular Heterotopia X-Linked Dominant 76
Heterotopia, Periventricular, Ed Variant 13
Periventricular Nodular Heterotopia 4 76
Periventricular Heterotopia, X-Linked 74
Eds with Periventricular Heterotopia 60
Heterotopia, Periventricular, Type 1 41
Heterotopia, Periventricular, 1 58
Heterotopia, Familial Nodular 58
Familial Nodular Heterotopia 76
Pvnh4, Formerly 58
Pvnh4 76
Bpnh 76

Characteristics:

Orphanet epidemiological data:

60
ehlers-danlos syndrome with periventricular heterotopia
Inheritance: X-linked dominant; Age of onset: Childhood;

OMIM:

58
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:

33
periventricular nodular heterotopia 1:
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Periventricular Nodular Heterotopia 1

OMIM : 58 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, brain and skin, and related phenotypes are scoliosis and gastroesophageal reflux

UniProtKB/Swiss-Prot : 76 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:

60 33 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002650
2 gastroesophageal reflux 60 33 hallmark (90%) Very frequent (99-80%) HP:0002020
3 abnormal bleeding 60 33 hallmark (90%) Very frequent (99-80%) HP:0001892
4 hernia 60 33 hallmark (90%) Very frequent (99-80%) HP:0100790
5 pyloric stenosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002021
6 patent ductus arteriosus 60 33 frequent (33%) Frequent (79-30%) HP:0001643
7 thin skin 60 33 frequent (33%) Frequent (79-30%) HP:0000963
8 joint hypermobility 60 33 frequent (33%) Frequent (79-30%) HP:0001382
9 aortic regurgitation 60 33 frequent (33%) Frequent (79-30%) HP:0001659
10 periventricular gray matter heterotopia 60 33 frequent (33%) Frequent (79-30%) HP:0007165
11 focal-onset seizure 33 frequent (33%) HP:0007359
12 abnormal heart valve morphology 33 frequent (33%) HP:0001654
13 patellar dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002999
14 shoulder dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0003834
15 aortic aneurysm 33 occasional (7.5%) HP:0004942
16 seizures 33 HP:0001250
17 intellectual disability, mild 33 HP:0001256
18 abnormality of the heart valves 60 Frequent (79-30%)
19 abnormality of nervous system morphology 60 Frequent (79-30%)
20 bicuspid aortic valve 33 HP:0001647
21 aortic dilatation 60 Occasional (29-5%)
22 abnormality of neuronal migration 33 HP:0002269
23 stroke 33 HP:0001297
24 focal seizures 60 Frequent (79-30%)
25 heterotopia 33 HP:0002282
26 abnormality of the coagulation cascade 33 HP:0003256

Symptoms via clinical synopsis from OMIM:

58
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 30 FLNA

Anatomical Context for Periventricular Nodular Heterotopia 1

MalaCards organs/tissues related to Periventricular Nodular Heterotopia 1:

42
Cortex, Brain, Skin, Heart, Bone

Publications for Periventricular Nodular Heterotopia 1

Variations for Periventricular Nodular Heterotopia 1

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

76
# 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

ClinVar genetic disease variations for Periventricular Nodular Heterotopia 1:

6 (show top 50) (show all 782)
# Gene Variation Type Significance SNP ID Assembly Location
1 FLNA NM_001110556.1(FLNA): c.7153C> T (p.Gln2385Ter) single nucleotide variant Pathogenic rs727503931 GRCh37 Chromosome X, 153579280: 153579280
2 FLNA NM_001110556.1(FLNA): c.7153C> T (p.Gln2385Ter) single nucleotide variant Pathogenic rs727503931 GRCh38 Chromosome X, 154350912: 154350912
3 FLNA NM_001456.3(FLNA): c.7148G> A (p.Arg2383His) single nucleotide variant Uncertain significance rs727503930 GRCh37 Chromosome X, 153578560: 153578560
4 FLNA NM_001456.3(FLNA): c.7148G> A (p.Arg2383His) single nucleotide variant Uncertain significance rs727503930 GRCh38 Chromosome X, 154350192: 154350192
5 FLNA NM_001456.3(FLNA): c.7732+8A> G single nucleotide variant Benign/Likely benign rs201663443 GRCh37 Chromosome X, 153577722: 153577722
6 FLNA NM_001456.3(FLNA): c.7732+8A> G single nucleotide variant Benign/Likely benign rs201663443 GRCh38 Chromosome X, 154349354: 154349354
7 FLNA NM_001456.3(FLNA): c.4777_4778dupAA (p.Thr1594Argfs) duplication Pathogenic rs786200973 GRCh37 Chromosome X, 153585969: 153585970
8 FLNA NM_001456.3(FLNA): c.4777_4778dupAA (p.Thr1594Argfs) duplication Pathogenic rs786200973 GRCh38 Chromosome X, 154357601: 154357602
9 FLNA NM_001456.3(FLNA): c.4179G> A (p.Glu1393=) single nucleotide variant Conflicting interpretations of pathogenicity rs182074603 GRCh37 Chromosome X, 153587738: 153587738
10 FLNA NM_001456.3(FLNA): c.4179G> A (p.Glu1393=) single nucleotide variant Conflicting interpretations of pathogenicity rs182074603 GRCh38 Chromosome X, 154359370: 154359370
11 FLNA NM_001110556.1(FLNA): c.623-20_623-12del deletion Uncertain significance rs786205200 GRCh37 Chromosome X, 153596118: 153596126
12 FLNA NM_001110556.1(FLNA): c.137delA (p.Gln46Argfs) deletion Likely pathogenic rs786205181 GRCh38 Chromosome X, 154371109: 154371109
13 FLNA NM_001110556.1(FLNA): c.6635_6638delTCAG (p.Val2212Alafs) deletion Pathogenic rs786205178 GRCh37 Chromosome X, 153580680: 153580683
14 FLNA NM_001110556.1(FLNA): c.6635_6638delTCAG (p.Val2212Alafs) deletion Pathogenic rs786205178 GRCh38 Chromosome X, 154352312: 154352315
15 FLNA NM_001110556.1(FLNA): c.6580G> T (p.Glu2194Ter) single nucleotide variant Likely pathogenic rs786205202 GRCh38 Chromosome X, 154352370: 154352370
16 FLNA NM_001110556.1(FLNA): c.6580G> T (p.Glu2194Ter) single nucleotide variant Likely pathogenic rs786205202 GRCh37 Chromosome X, 153580738: 153580738
17 FLNA NM_001110556.1(FLNA): c.6355_6356delAA (p.Lys2119Valfs) deletion Pathogenic rs786205201 GRCh38 Chromosome X, 154352795: 154352796
18 FLNA NM_001110556.1(FLNA): c.6355_6356delAA (p.Lys2119Valfs) deletion Pathogenic rs786205201 GRCh37 Chromosome X, 153581163: 153581164
19 FLNA NM_001110556.1(FLNA): c.5021_5022delTG (p.Val1674Glyfs) deletion Likely pathogenic rs786205199 GRCh37 Chromosome X, 153583388: 153583389
20 FLNA NM_001110556.1(FLNA): c.5021_5022delTG (p.Val1674Glyfs) deletion Likely pathogenic rs786205199 GRCh38 Chromosome X, 154355020: 154355021
21 FLNA NM_001110556.1(FLNA): c.4943delC (p.Thr1648Lysfs) deletion Likely pathogenic rs786205198 GRCh38 Chromosome X, 154357436: 154357436
22 FLNA NM_001110556.1(FLNA): c.4943delC (p.Thr1648Lysfs) deletion Likely pathogenic rs786205198 GRCh37 Chromosome X, 153585804: 153585804
23 FLNA NM_001110556.1(FLNA): c.4935C> A (p.Cys1645Ter) single nucleotide variant Likely pathogenic rs786205197 GRCh37 Chromosome X, 153585812: 153585812
24 FLNA NM_001110556.1(FLNA): c.4935C> A (p.Cys1645Ter) single nucleotide variant Likely pathogenic rs786205197 GRCh38 Chromosome X, 154357444: 154357444
25 FLNA NM_001110556.1(FLNA): c.4866C> T (p.Tyr1622=) single nucleotide variant Benign/Likely benign rs200835571 GRCh37 Chromosome X, 153585881: 153585881
26 FLNA NM_001110556.1(FLNA): c.4866C> T (p.Tyr1622=) single nucleotide variant Benign/Likely benign rs200835571 GRCh38 Chromosome X, 154357513: 154357513
27 FLNA NM_001110556.1(FLNA): c.4617_4618delGC (p.Leu1540Alafs) deletion Likely pathogenic rs786205194 GRCh38 Chromosome X, 154358336: 154358337
28 FLNA NM_001110556.1(FLNA): c.4617_4618delGC (p.Leu1540Alafs) deletion Likely pathogenic rs786205194 GRCh37 Chromosome X, 153586704: 153586705
29 FLNA NM_001110556.1(FLNA): c.4451A> G (p.Gln1484Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200130356 GRCh37 Chromosome X, 153587375: 153587375
30 FLNA NM_001110556.1(FLNA): c.4451A> G (p.Gln1484Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200130356 GRCh38 Chromosome X, 154359007: 154359007
31 FLNA NM_001110556.1(FLNA): c.4060G> A (p.Asp1354Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs377390031 GRCh37 Chromosome X, 153587934: 153587934
32 FLNA NM_001110556.1(FLNA): c.137delA (p.Gln46Argfs) deletion Likely pathogenic rs786205181 GRCh37 Chromosome X, 153599477: 153599477
33 FLNA NM_001110556.1(FLNA): c.4060G> A (p.Asp1354Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs377390031 GRCh38 Chromosome X, 154359566: 154359566
34 FLNA NM_001110556.1(FLNA): c.4006delG (p.Asp1336Thrfs) deletion Likely pathogenic rs786205191 GRCh37 Chromosome X, 153587988: 153587988
35 FLNA NM_001110556.1(FLNA): c.4006delG (p.Asp1336Thrfs) deletion Likely pathogenic rs786205191 GRCh38 Chromosome X, 154359620: 154359620
36 FLNA NM_001110556.1(FLNA): c.3980-5_3990dup duplication Likely pathogenic rs786205190 GRCh38 Chromosome X, 154359636: 154359651
37 FLNA NM_001110556.1(FLNA): c.3980-5_3990dup duplication Likely pathogenic rs786205190 GRCh37 Chromosome X, 153588004: 153588019
38 FLNA NM_001110556.1(FLNA): c.3875_3888dup (p.Val1297Thrfs) duplication Likely pathogenic rs786205189 GRCh37 Chromosome X, 153588191: 153588204
39 FLNA NM_001110556.1(FLNA): c.3875_3888dup (p.Val1297Thrfs) duplication Likely pathogenic rs786205189 GRCh38 Chromosome X, 154359823: 154359836
40 FLNA NM_001110556.1(FLNA): c.3529delG (p.Glu1177Argfs) deletion Likely pathogenic rs786205188 GRCh38 Chromosome X, 154360266: 154360266
41 FLNA NM_001110556.1(FLNA): c.3529delG (p.Glu1177Argfs) deletion Likely pathogenic rs786205188 GRCh37 Chromosome X, 153588634: 153588634
42 FLNA NM_001110556.1(FLNA): c.2565+1G> C single nucleotide variant Pathogenic rs786205186 GRCh38 Chromosome X, 154362417: 154362417
43 FLNA NM_001110556.1(FLNA): c.2565+1G> C single nucleotide variant Pathogenic rs786205186 GRCh37 Chromosome X, 153590785: 153590785
44 FLNA NM_001110556.1(FLNA): c.2023-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs372021340 GRCh38 Chromosome X, 154364378: 154364378
45 FLNA NM_001110556.1(FLNA): c.2023-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs372021340 GRCh37 Chromosome X, 153592746: 153592746
46 FLNA NM_001110556.1(FLNA): c.1850C> T (p.Ser617Leu) single nucleotide variant Uncertain significance rs782193139 GRCh38 Chromosome X, 154364698: 154364698
47 FLNA NM_001110556.1(FLNA): c.1850C> T (p.Ser617Leu) single nucleotide variant Uncertain significance rs782193139 GRCh37 Chromosome X, 153593066: 153593066
48 FLNA NM_001110556.1(FLNA): c.1829-2A> G single nucleotide variant Pathogenic rs786205183 GRCh38 Chromosome X, 154364721: 154364721
49 FLNA NM_001110556.1(FLNA): c.1829-2A> G single nucleotide variant Pathogenic rs786205183 GRCh37 Chromosome X, 153593089: 153593089
50 FLNA NM_001110556.1(FLNA): c.1722T> A (p.Cys574Ter) single nucleotide variant Likely pathogenic rs786205182 GRCh38 Chromosome X, 154364927: 154364927

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....