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 57 75 29 6
Heterotopia, Periventricular 57 13 40
Heterotopia, Periventricular, Ehlers-Danlos Variant 57 73
Pvnh1 57 75
Nhbp 57 75
Periventricular Nodular Heterotopia 4, Formerly; Pvnh4, Formerly 57
Nodular Heterotopia, Bilateral Periventricular; Nhbp; Bpnh 57
Ehlers-Danlos Syndrome with Periventricular Heterotopia 59
Periventricular Heterotopia Ehlers-Danlos Variant 75
Heterotopia, Periventricular, X-Linked Dominant 57
Periventricular Nodular Heterotopia 4, Formerly 57
Nodular Heterotopia, Bilateral Periventricular 57
Nodular Heterotopia Bilateral Periventricular 75
Periventricular Heterotopia X-Linked Dominant 75
Heterotopia, Periventricular, Ed Variant 13
Periventricular Nodular Heterotopia 4 75
Periventricular Heterotopia, X-Linked 73
Eds with Periventricular Heterotopia 59
Heterotopia, Familial Nodular 57
Familial Nodular Heterotopia 75
Pvnh4, Formerly 57
Pvnh4 75
Bpnh 75

Characteristics:

Orphanet epidemiological data:

59
ehlers-danlos syndrome with periventricular heterotopia
Inheritance: X-linked dominant; Age of onset: Childhood;

OMIM:

57
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:

32
periventricular nodular heterotopia 1:
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Periventricular Nodular Heterotopia 1

OMIM : 57 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, is related to periventricular nodular heterotopia and heterotopia, periventricular, associated with chromosome 5p anomalies. 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Periventricular Nodular Heterotopia 1:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
2 gastroesophageal reflux 59 32 hallmark (90%) Very frequent (99-80%) HP:0002020
3 abnormal bleeding 59 32 hallmark (90%) Very frequent (99-80%) HP:0001892
4 hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100790
5 patent ductus arteriosus 59 32 frequent (33%) Frequent (79-30%) HP:0001643
6 thin skin 59 32 frequent (33%) Frequent (79-30%) HP:0000963
7 joint hypermobility 59 32 frequent (33%) Frequent (79-30%) HP:0001382
8 patellar dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002999
9 pyloric stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002021
10 shoulder dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0003834
11 aortic regurgitation 59 32 frequent (33%) Frequent (79-30%) HP:0001659
12 periventricular gray matter heterotopia 59 32 frequent (33%) Frequent (79-30%) HP:0007165
13 seizures 32 HP:0001250
14 intellectual disability, mild 32 HP:0001256
15 abnormality of the heart valves 59 Frequent (79-30%)
16 abnormality of nervous system morphology 59 Frequent (79-30%)
17 bicuspid aortic valve 32 HP:0001647
18 aortic dilatation 59 Occasional (29-5%)
19 abnormality of neuronal migration 32 HP:0002269
20 stroke 32 HP:0001297
21 focal seizures 59 Frequent (79-30%)
22 heterotopia 32 HP:0002282
23 abnormality of the coagulation cascade 32 HP:0003256
24 aortic aneurysm 32 occasional (7.5%) HP:0004942
25 focal-onset seizure 32 frequent (33%) HP:0007359
26 abnormal heart valve morphology 32 frequent (33%) HP:0001654

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:

41
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:

75
# 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 793)
# 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.544C> T (p.Gln182Ter) single nucleotide variant Pathogenic rs137853310 GRCh38 Chromosome X, 154367920: 154367920
3 FLNA NM_001110556.1(FLNA): c.720+2T> C single nucleotide variant Pathogenic rs863223295 GRCh37 Chromosome X, 153596007: 153596007
4 FLNA NM_001110556.1(FLNA): c.720+2T> C single nucleotide variant Pathogenic rs863223295 GRCh38 Chromosome X, 154367639: 154367639
5 FLNA NM_001110556.1(FLNA): c.623-3C> G single nucleotide variant Uncertain significance rs398123622 GRCh37 Chromosome X, 153596109: 153596109
6 FLNA NM_001110556.1(FLNA): c.623-3C> G single nucleotide variant Uncertain significance rs398123622 GRCh38 Chromosome X, 154367741: 154367741
7 FLNA NM_001110556.1(FLNA): c.373+1G> A single nucleotide variant Pathogenic rs863223296 GRCh38 Chromosome X, 154370872: 154370872
8 FLNA NM_001110556.1(FLNA): c.373+1G> A single nucleotide variant Pathogenic rs863223296 GRCh37 Chromosome X, 153599240: 153599240
9 FLNA NM_001110556.1(FLNA): c.287_291delGGCCC (p.Arg96Hisfs) deletion Pathogenic rs863223297 GRCh37 Chromosome X, 153599323: 153599327
10 FLNA NM_001110556.1(FLNA): c.287_291delGGCCC (p.Arg96Hisfs) deletion Pathogenic rs863223297 GRCh38 Chromosome X, 154370955: 154370959
11 FLNA NM_001110556.1(FLNA): c.1966C> T (p.Leu656Phe) single nucleotide variant Pathogenic rs137853311 GRCh37 Chromosome X, 153592950: 153592950
12 FLNA NM_001110556.1(FLNA): c.1966C> T (p.Leu656Phe) single nucleotide variant Pathogenic rs137853311 GRCh38 Chromosome X, 154364582: 154364582
13 FLNA NM_001110556.1(FLNA): c.6915C> G (p.Tyr2305Ter) single nucleotide variant Pathogenic rs781910090 GRCh37 Chromosome X, 153580057: 153580057
14 FLNA NM_001110556.1(FLNA): c.6915C> G (p.Tyr2305Ter) single nucleotide variant Pathogenic rs781910090 GRCh38 Chromosome X, 154351689: 154351689
15 FLNA NM_001110556.1(FLNA): c.245A> T (p.Glu82Val) single nucleotide variant Pathogenic rs28935169 GRCh37 Chromosome X, 153599369: 153599369
16 FLNA NM_001110556.1(FLNA): c.245A> T (p.Glu82Val) single nucleotide variant Pathogenic rs28935169 GRCh38 Chromosome X, 154371001: 154371001
17 FLNA NM_001110556.1(FLNA): c.760G> A (p.Glu254Lys) single nucleotide variant Pathogenic rs28935470 GRCh37 Chromosome X, 153595873: 153595873
18 FLNA NM_001110556.1(FLNA): c.760G> A (p.Glu254Lys) single nucleotide variant Pathogenic rs28935470 GRCh38 Chromosome X, 154367505: 154367505
19 FLNA NM_001110556.1(FLNA): c.3557C> T (p.Ser1186Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137853312 GRCh37 Chromosome X, 153588606: 153588606
20 FLNA NM_001110556.1(FLNA): c.3557C> T (p.Ser1186Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137853312 GRCh38 Chromosome X, 154360238: 154360238
21 FLNA FLNA, 1-BP DEL, 2762G deletion Pathogenic
22 FLNA NM_001110556.1(FLNA): c.4147delG (p.Ala1383Leufs) deletion Pathogenic rs863223299 GRCh38 Chromosome X, 154359402: 154359402
23 FLNA NM_001110556.1(FLNA): c.4147delG (p.Ala1383Leufs) deletion Pathogenic rs863223299 GRCh37 Chromosome X, 153587770: 153587770
24 FLNA NM_001110556.1(FLNA): c.116C> G (p.Ala39Gly) single nucleotide variant Pathogenic rs137853313 GRCh37 Chromosome X, 153599498: 153599498
25 FLNA NM_001110556.1(FLNA): c.116C> G (p.Ala39Gly) single nucleotide variant Pathogenic rs137853313 GRCh38 Chromosome X, 154371130: 154371130
26 FLNA NM_001110556.1(FLNA): c.383C> T (p.Ala128Val) single nucleotide variant Pathogenic rs137853315 GRCh37 Chromosome X, 153596449: 153596449
27 FLNA NM_001110556.1(FLNA): c.383C> T (p.Ala128Val) single nucleotide variant Pathogenic rs137853315 GRCh38 Chromosome X, 154368081: 154368081
28 FLNA NM_001110556.1(FLNA): c.1923C> T (p.Gly641=) single nucleotide variant Pathogenic rs80338841 GRCh37 Chromosome X, 153592993: 153592993
29 FLNA NM_001110556.1(FLNA): c.1923C> T (p.Gly641=) single nucleotide variant Pathogenic rs80338841 GRCh38 Chromosome X, 154364625: 154364625
30 FLNA NM_001110556.1(FLNA): c.586C> T (p.Arg196Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853317 GRCh37 Chromosome X, 153596246: 153596246
31 FLNA NM_001110556.1(FLNA): c.586C> T (p.Arg196Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853317 GRCh38 Chromosome X, 154367878: 154367878
32 FLNA NM_001110556.1(FLNA): c.7896G> A (p.Trp2632Ter) single nucleotide variant Pathogenic rs398122812 GRCh37 Chromosome X, 153577265: 153577265
33 FLNA NM_001110556.1(FLNA): c.7896G> A (p.Trp2632Ter) single nucleotide variant Pathogenic rs398122812 GRCh38 Chromosome X, 154348897: 154348897
34 FLNA NM_001110556.1(FLNA): c.1286C> T (p.Thr429Met) single nucleotide variant Benign/Likely benign rs36051194 GRCh37 Chromosome X, 153594535: 153594535
35 FLNA NM_001110556.1(FLNA): c.1286C> T (p.Thr429Met) single nucleotide variant Benign/Likely benign rs36051194 GRCh38 Chromosome X, 154366167: 154366167
36 FLNA NM_001110556.1(FLNA): c.1429+8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs202181557 GRCh37 Chromosome X, 153594384: 153594384
37 FLNA NM_001110556.1(FLNA): c.1429+8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs202181557 GRCh38 Chromosome X, 154366016: 154366016
38 FLNA NM_001110556.1(FLNA): c.2761C> T (p.Arg921Ter) single nucleotide variant Pathogenic rs398123614 GRCh37 Chromosome X, 153590412: 153590412
39 FLNA NM_001110556.1(FLNA): c.2761C> T (p.Arg921Ter) single nucleotide variant Pathogenic rs398123614 GRCh38 Chromosome X, 154362044: 154362044
40 FLNA NM_001110556.1(FLNA): c.3035C> T (p.Ser1012Leu) single nucleotide variant Benign/Likely benign rs17091204 GRCh37 Chromosome X, 153589848: 153589848
41 FLNA NM_001110556.1(FLNA): c.3035C> T (p.Ser1012Leu) single nucleotide variant Benign/Likely benign rs17091204 GRCh38 Chromosome X, 154361480: 154361480
42 FLNA NM_001456.3(FLNA): c.3147C> T (p.Gly1049=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123615 GRCh37 Chromosome X, 153589736: 153589736
43 FLNA NM_001456.3(FLNA): c.3147C> T (p.Gly1049=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123615 GRCh38 Chromosome X, 154361368: 154361368
44 FLNA NM_001110556.1(FLNA): c.3153dupC (p.Val1052Argfs) duplication Pathogenic rs398123616 GRCh37 Chromosome X, 153589730: 153589730
45 FLNA NM_001110556.1(FLNA): c.3153dupC (p.Val1052Argfs) duplication Pathogenic rs398123616 GRCh38 Chromosome X, 154361362: 154361362
46 FLNA NM_001456.3(FLNA): c.3379G> A (p.Val1127Met) single nucleotide variant Conflicting interpretations of pathogenicity rs398123617 GRCh37 Chromosome X, 153588784: 153588784
47 FLNA NM_001456.3(FLNA): c.3379G> A (p.Val1127Met) single nucleotide variant Conflicting interpretations of pathogenicity rs398123617 GRCh38 Chromosome X, 154360416: 154360416
48 FLNA NM_001456.3(FLNA): c.4263C> T (p.Thr1421=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123618 GRCh37 Chromosome X, 153587654: 153587654
49 FLNA NM_001456.3(FLNA): c.4263C> T (p.Thr1421=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123618 GRCh38 Chromosome X, 154359286: 154359286
50 FLNA NM_001110556.1(FLNA): c.42delC (p.Ala15Argfs) deletion Pathogenic rs398123619 GRCh37 Chromosome X, 153599572: 153599572

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....