PVNH1
MCID: PRV019
MIFTS: 32

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
Filamin a-Related Eds with Periventricular Nodular Heterotopia 60
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:

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

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, Bone, Heart

Publications for Periventricular Nodular Heterotopia 1

Articles related to Periventricular Nodular Heterotopia 1:

# Title Authors Year
1
Novel cardiac findings in periventricular nodular heterotopia. ( 20014127 )
2010
2
Filamin A mutation is one cause of FG syndrome. ( 17632775 )
2007
3
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. ( 15994863 )
2006
4
A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. ( 16299064 )
2006
5
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. ( 15668422 )
2005
6
Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. ( 11914408 )
2002
7
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. ( 11532987 )
2001
8
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. ( 9883725 )
1998
9
Periventricular heterotopia and epilepsy. ( 8290091 )
1994
10
RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. ( 3658675 )
1987

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 800)
# 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 NM_001110556.2(FLNA): c.2762del (p.Arg921Glnfs) deletion Pathogenic GRCh38 Chromosome X, 154362043: 154362043
22 FLNA NM_001110556.2(FLNA): c.2762del (p.Arg921Glnfs) deletion Pathogenic GRCh37 Chromosome X, 153590411: 153590411
23 FLNA NM_001110556.1(FLNA): c.4147delG (p.Ala1383Leufs) deletion Pathogenic rs863223299 GRCh38 Chromosome X, 154359402: 154359402
24 FLNA NM_001110556.1(FLNA): c.4147delG (p.Ala1383Leufs) deletion Pathogenic rs863223299 GRCh37 Chromosome X, 153587770: 153587770
25 FLNA NM_001110556.1(FLNA): c.116C> G (p.Ala39Gly) single nucleotide variant Pathogenic rs137853313 GRCh37 Chromosome X, 153599498: 153599498
26 FLNA NM_001110556.1(FLNA): c.116C> G (p.Ala39Gly) single nucleotide variant Pathogenic rs137853313 GRCh38 Chromosome X, 154371130: 154371130
27 FLNA NM_001110556.1(FLNA): c.383C> T (p.Ala128Val) single nucleotide variant Pathogenic rs137853315 GRCh37 Chromosome X, 153596449: 153596449
28 FLNA NM_001110556.1(FLNA): c.383C> T (p.Ala128Val) single nucleotide variant Pathogenic rs137853315 GRCh38 Chromosome X, 154368081: 154368081
29 FLNA NM_001110556.1(FLNA): c.1923C> T (p.Gly641=) single nucleotide variant Pathogenic rs80338841 GRCh37 Chromosome X, 153592993: 153592993
30 FLNA NM_001110556.1(FLNA): c.1923C> T (p.Gly641=) single nucleotide variant Pathogenic rs80338841 GRCh38 Chromosome X, 154364625: 154364625
31 FLNA NM_001110556.1(FLNA): c.586C> T (p.Arg196Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853317 GRCh37 Chromosome X, 153596246: 153596246
32 FLNA NM_001110556.1(FLNA): c.586C> T (p.Arg196Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853317 GRCh38 Chromosome X, 154367878: 154367878
33 FLNA NM_001110556.1(FLNA): c.7896G> A (p.Trp2632Ter) single nucleotide variant Pathogenic rs398122812 GRCh37 Chromosome X, 153577265: 153577265
34 FLNA NM_001110556.1(FLNA): c.7896G> A (p.Trp2632Ter) single nucleotide variant Pathogenic rs398122812 GRCh38 Chromosome X, 154348897: 154348897
35 FLNA NM_001110556.1(FLNA): c.1286C> T (p.Thr429Met) single nucleotide variant Benign/Likely benign rs36051194 GRCh37 Chromosome X, 153594535: 153594535
36 FLNA NM_001110556.1(FLNA): c.1286C> T (p.Thr429Met) single nucleotide variant Benign/Likely benign rs36051194 GRCh38 Chromosome X, 154366167: 154366167
37 FLNA NM_001110556.1(FLNA): c.1429+8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs202181557 GRCh37 Chromosome X, 153594384: 153594384
38 FLNA NM_001110556.1(FLNA): c.1429+8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs202181557 GRCh38 Chromosome X, 154366016: 154366016
39 FLNA NM_001110556.1(FLNA): c.2761C> T (p.Arg921Ter) single nucleotide variant Pathogenic rs398123614 GRCh37 Chromosome X, 153590412: 153590412
40 FLNA NM_001110556.1(FLNA): c.2761C> T (p.Arg921Ter) single nucleotide variant Pathogenic rs398123614 GRCh38 Chromosome X, 154362044: 154362044
41 FLNA NM_001110556.1(FLNA): c.3035C> T (p.Ser1012Leu) single nucleotide variant Benign/Likely benign rs17091204 GRCh37 Chromosome X, 153589848: 153589848
42 FLNA NM_001110556.1(FLNA): c.3035C> T (p.Ser1012Leu) single nucleotide variant Benign/Likely benign rs17091204 GRCh38 Chromosome X, 154361480: 154361480
43 FLNA NM_001456.3(FLNA): c.3147C> T (p.Gly1049=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123615 GRCh37 Chromosome X, 153589736: 153589736
44 FLNA NM_001456.3(FLNA): c.3147C> T (p.Gly1049=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123615 GRCh38 Chromosome X, 154361368: 154361368
45 FLNA NM_001110556.1(FLNA): c.3153dupC (p.Val1052Argfs) duplication Pathogenic rs398123616 GRCh37 Chromosome X, 153589730: 153589730
46 FLNA NM_001110556.1(FLNA): c.3153dupC (p.Val1052Argfs) duplication Pathogenic rs398123616 GRCh38 Chromosome X, 154361362: 154361362
47 FLNA NM_001110556.1(FLNA): c.3323G> A (p.Cys1108Tyr) single nucleotide variant Uncertain significance rs371677498 GRCh37 Chromosome X, 153588840: 153588840
48 FLNA NM_001110556.1(FLNA): c.3323G> A (p.Cys1108Tyr) single nucleotide variant Uncertain significance rs371677498 GRCh38 Chromosome X, 154360472: 154360472
49 FLNA NM_001456.3(FLNA): c.3379G> A (p.Val1127Met) single nucleotide variant Conflicting interpretations of pathogenicity rs398123617 GRCh37 Chromosome X, 153588784: 153588784
50 FLNA NM_001456.3(FLNA): c.3379G> A (p.Val1127Met) single nucleotide variant Conflicting interpretations of pathogenicity rs398123617 GRCh38 Chromosome X, 154360416: 154360416

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

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