PVNH1
MCID: PRV019
MIFTS: 37

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 57 72 29 6
Heterotopia, Periventricular, Ehlers-Danlos Variant 57 70
Pvnh1 57 72
Nhbp 57 72
Periventricular Nodular Heterotopia 4, Formerly; Pvnh4, Formerly 57
Nodular Heterotopia, Bilateral Periventricular; Nhbp; Bpnh 57
Periventricular Heterotopia Ehlers-Danlos Variant 72
Heterotopia, Periventricular, X-Linked Dominant 57
Periventricular Nodular Heterotopia 4, Formerly 57
Nodular Heterotopia, Bilateral Periventricular 57
Nodular Heterotopia Bilateral Periventricular 72
Periventricular Heterotopia X-Linked Dominant 72
Periventricular Nodular Heterotopia 4 72
Periventricular Heterotopia, X-Linked 70
Heterotopia, Periventricular, Type 1 39
Heterotopia, Periventricular, 1 57
Heterotopia, Familial Nodular 57
Familial Nodular Heterotopia 72
Pvnh4, Formerly 57
Pvnh4 72
Bpnh 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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® 57 300049
OMIM Phenotypic Series 57 PS300049
MeSH 44 D054091
UMLS 70 C1845235 C1848213

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) (Updated 20-May-2021)

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

UniProtKB/Swiss-Prot : 72 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 intellectual disability, mild 31 HP:0001256
2 bicuspid aortic valve 31 HP:0001647
3 patent ductus arteriosus 31 HP:0001643
4 stroke 31 HP:0001297
5 abnormality of neuronal migration 31 HP:0002269
6 gray matter heterotopia 31 HP:0002282
7 abnormality of the coagulation cascade 31 HP:0003256
8 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
bicuspid aortic valve

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

Respiratory Lung:
interstitial lung disease (in some patients)

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

Hematology:
coagulopathy

Clinical features from OMIM®:

300049 (Updated 20-May-2021)

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, Lung, Skin

Publications for Periventricular Nodular Heterotopia 1

Articles related to Periventricular Nodular Heterotopia 1:

(show top 50) (show all 64)
# Title Authors PMID Year
1
Novel cardiac findings in periventricular nodular heterotopia. 6 57
20014127 2010
2
Filamin A mutation is one cause of FG syndrome. 57 6
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. 6 57
16299064 2006
4
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. 6 57
15994863 2006
5
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. 57 6
15668422 2005
6
Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. 57 6
11914408 2002
7
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. 6 57
9883725 1998
8
Periventricular heterotopia and epilepsy. 6 57
8290091 1994
9
A review of filamin A mutations and associated interstitial lung disease. 57
30547349 2019
10
Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings. 6
30561107 2019
11
Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 6
29706646 2018
12
Filamin A (FLNA) mutation-A newcomer to the childhood interstitial lung disease (ChILD) classification. 57
28898549 2017
13
Lung Transplantation for FLNA-Associated Progressive Lung Disease. 57
28457522 2017
14
Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αIIbβ3 Activation. 6
28428218 2017
15
Terminal osseous dysplasia with pigmentary defects; Case and brief review of filamin A-related disorders. 6
26061098 2016
16
A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation. 6
26804200 2016
17
Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R. 6
26686323 2016
18
47 patients with FLNA associated periventricular nodular heterotopia. 6
26471271 2015
19
Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects. 6
26059211 2015
20
Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA. 6
25686753 2015
21
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
22
Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation. 6
25614868 2014
23
Novel no-stop FLNA mutation causes multi-organ involvement in males. 6
23873601 2013
24
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A. 57
23032111 2013
25
Combined cardiological and neurological abnormalities due to filamin A gene mutation. 6
20730588 2011
26
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. 6
20598277 2010
27
A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation. 6
17264970 2007
28
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. 6
16835913 2006
29
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. 6
16684786 2006
30
Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. 6
16596676 2006
31
Periventricular heterotopia: new insights into Ehlers-Danlos syndrome. 6
16303888 2005
32
A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation. 6
15523633 2005
33
Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia. 57
15459826 2004
34
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. 57
15249610 2004
35
Molecular pathology of filamin A: diverse phenotypes, many functions. 6
15194946 2004
36
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. 57
14988809 2004
37
Functional imaging in PNH caused by a new FilaminA mutation. 57
14718723 2004
38
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 6
12612583 2003
39
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. 6
11532987 2001
40
X-linked subcortical laminar heterotopia and lissencephaly: a new family. 57
9810565 1998
41
Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation. 57
9710025 1998
42
Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia. 57
9311743 1997
43
Ehlers-Danlos syndrome with subependymal periventricular heterotopias. 57
8780115 1996
44
Familial bilateral periventricular nodular heterotopia mimics tuberous sclerosis. 57
8787433 1996
45
Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development. 57
8562093 1996
46
Xq-Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq- karyotype. 57
7874166 1994
47
Subependymal heterotopia: a distinct neuronal migration disorder associated with epilepsy. 57
7931380 1994
48
Hereditary nodular heterotopia accompanied by mega cisterna magna. 57
8213918 1993
49
Familial periventricular nodular heterotopia. 57
8214353 1993
50
Corpus callosum agenesis in two male infants of a heterozygotic triplet pregnancy. 57
7505592 1993

Variations for Periventricular Nodular Heterotopia 1

ClinVar genetic disease variations for Periventricular Nodular Heterotopia 1:

6 (show top 50) (show all 781)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLNA NC_000023.10:g.(?_153576900)_(153599729_?)del Deletion Pathogenic 417354 GRCh37: X:153576900-153599729
GRCh38:
2 FLNA NM_001110556.2(FLNA):c.544C>T (p.Gln182Ter) SNV Pathogenic 11747 rs137853310 GRCh37: X:153596288-153596288
GRCh38: X:154367920-154367920
3 FLNA NM_001110556.2(FLNA):c.720+2T>C SNV Pathogenic 11748 rs863223295 GRCh37: X:153596007-153596007
GRCh38: X:154367639-154367639
4 FLNA NM_001110556.2(FLNA):c.623-3C>G SNV Pathogenic 11749 rs398123622 GRCh37: X:153596109-153596109
GRCh38: X:154367741-154367741
5 FLNA NM_001110556.2(FLNA):c.373+1G>A SNV Pathogenic 11750 rs863223296 GRCh37: X:153599240-153599240
GRCh38: X:154370872-154370872
6 FLNA NM_001110556.2(FLNA):c.287_291del (p.Arg96fs) Deletion Pathogenic 11751 rs863223297 GRCh37: X:153599323-153599327
GRCh38: X:154370955-154370959
7 FLNA NM_001110556.2(FLNA):c.1966C>T (p.Leu656Phe) SNV Pathogenic 11752 rs137853311 GRCh37: X:153592950-153592950
GRCh38: X:154364582-154364582
8 FLNA NM_001110556.2(FLNA):c.6915C>G (p.Tyr2305Ter) SNV Pathogenic 11753 rs781910090 GRCh37: X:153580057-153580057
GRCh38: X:154351689-154351689
9 FLNA NM_001110556.2(FLNA):c.245A>T (p.Glu82Val) SNV Pathogenic 11754 rs28935169 GRCh37: X:153599369-153599369
GRCh38: X:154371001-154371001
10 FLNA NM_001110556.2(FLNA):c.2762del (p.Arg921fs) Deletion Pathogenic 11763 rs1569551736 GRCh37: X:153590411-153590411
GRCh38: X:154362043-154362043
11 FLNA NM_001110556.2(FLNA):c.4147del (p.Ala1383fs) Deletion Pathogenic 11764 rs863223299 GRCh37: X:153587770-153587770
GRCh38: X:154359402-154359402
12 FLNA NM_001110556.2(FLNA):c.116C>G (p.Ala39Gly) SNV Pathogenic 11765 rs137853313 GRCh37: X:153599498-153599498
GRCh38: X:154371130-154371130
13 FLNA NM_001110556.2(FLNA):c.383C>T (p.Ala128Val) SNV Pathogenic 11767 rs137853315 GRCh37: X:153596449-153596449
GRCh38: X:154368081-154368081
14 FLNA NM_001110556.2(FLNA):c.1430-1G>T SNV Pathogenic 190178 rs786205177 GRCh37: X:153593855-153593855
GRCh38: X:154365487-154365487
15 FLNA NM_001110556.2(FLNA):c.1829-2A>G SNV Pathogenic 190184 rs786205183 GRCh37: X:153593089-153593089
GRCh38: X:154364721-154364721
16 FLNA NM_001110556.2(FLNA):c.2565+1G>C SNV Pathogenic 190187 rs786205186 GRCh37: X:153590785-153590785
GRCh38: X:154362417-154362417
17 FLNA NM_001110556.2(FLNA):c.4446_4447dup (p.Leu1483fs) Duplication Pathogenic 93761 rs398123620 GRCh37: X:153587378-153587379
GRCh38: X:154359010-154359011
18 FLNA NM_001110556.2(FLNA):c.6355_6356del (p.Lys2119fs) Deletion Pathogenic 190202 rs786205201 GRCh37: X:153581163-153581164
GRCh38: X:154352795-154352796
19 FLNA NM_001110556.2(FLNA):c.82A>G (p.Met28Val) SNV Pathogenic 488068 rs1557180226 GRCh37: X:153599532-153599532
GRCh38: X:154371164-154371164
20 FLNA NM_001110556.2(FLNA):c.1065G>A (p.Lys355=) SNV Pathogenic 488067 rs1557179325 GRCh37: X:153594930-153594930
GRCh38: X:154366562-154366562
21 FLNA NM_001110556.2(FLNA):c.4450C>T (p.Gln1484Ter) SNV Pathogenic 369957 rs1057516198 GRCh37: X:153587376-153587376
GRCh38: X:154359008-154359008
22 FLNA NM_001110556.2(FLNA):c.6724C>T (p.Arg2242Ter) SNV Pathogenic 405446 rs1060500717 GRCh37: X:153580594-153580594
GRCh38: X:154352226-154352226
23 FLNA NM_001110556.2(FLNA):c.138_139dup (p.Asn47fs) Duplication Pathogenic 976300 GRCh37: X:153599474-153599475
GRCh38: X:154371106-154371107
24 FLNA NM_001110556.2(FLNA):c.7021C>T (p.Gln2341Ter) SNV Pathogenic 807601 rs1603358919 GRCh37: X:153579951-153579951
GRCh38: X:154351583-154351583
25 FLNA NM_001110556.2(FLNA):c.5796del (p.Asp1931_Tyr1932insTer) Deletion Pathogenic 1012290 GRCh37: X:153581986-153581986
GRCh38: X:154353618-154353618
26 FLNA NM_001110556.2(FLNA):c.1923C>T (p.Gly641=) SNV Pathogenic 11770 rs80338841 GRCh37: X:153592993-153592993
GRCh38: X:154364625-154364625
27 FLNA NM_001110556.2(FLNA):c.6635_6638del (p.Val2212fs) Deletion Pathogenic 190179 rs786205178 GRCh37: X:153580680-153580683
GRCh38: X:154352312-154352315
28 FLNA NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu) SNV Pathogenic 405445 rs1060500716 GRCh37: X:153588495-153588495
GRCh38: X:154360127-154360127
29 FLNA NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs) Deletion Pathogenic 405447 rs1060500718 GRCh37: X:153581697-153581698
GRCh38: X:154353329-154353330
30 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs) Insertion Pathogenic 453200 rs1557175195 GRCh37: X:153577381-153577382
GRCh38: X:154349013-154349014
31 FLNA NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs) Deletion Pathogenic 464997 rs1557177086 GRCh37: X:153585895-153585907
GRCh38: X:154357527-154357539
32 FLNA NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer) Duplication Pathogenic 465027 rs1557179357 GRCh37: X:153594986-153594987
GRCh38: X:154366618-154366619
33 FLNA NM_001110556.2(FLNA):c.2280+389T>A SNV Pathogenic 488069 rs1557178535 GRCh37: X:153592001-153592001
GRCh38: X:154363633-154363633
34 FLNA NM_001110556.2(FLNA):c.853C>T (p.Arg285Cys) SNV Pathogenic 488066 rs1557179536 GRCh37: X:153595780-153595780
GRCh38: X:154367412-154367412
35 FLNA NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) SNV Pathogenic 11761 rs137853312 GRCh37: X:153588606-153588606
GRCh38: X:154360238-154360238
36 FLNA NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter) SNV Pathogenic 574177 rs1557177623 GRCh37: X:153588214-153588214
GRCh38: X:154359846-154359846
37 FLNA NM_001110556.2(FLNA):c.5643del (p.Asn1881fs) Deletion Pathogenic 575768 rs1569551502 GRCh37: X:153582326-153582326
GRCh38: X:154353958-154353958
38 FLNA NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter) SNV Pathogenic 580826 rs1569551861 GRCh37: X:153596053-153596053
GRCh38: X:154367685-154367685
39 FLNA NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) SNV Pathogenic 209154 rs797045044 GRCh37: X:153586596-153586596
GRCh38: X:154358228-154358228
40 FLNA NM_001110556.2(FLNA):c.5879dup (p.Met1960fs) Duplication Pathogenic 647567 rs1603359464 GRCh37: X:153581806-153581807
GRCh38: X:154353438-154353439
41 FLNA NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs) Indel Pathogenic 662513 rs1603361195 GRCh37: X:153588859-153588867
GRCh38: X:154360491-154360499
42 FLNA NM_001110556.2(FLNA):c.2452del (p.Ala818fs) Deletion Pathogenic 659278 rs1603361851 GRCh37: X:153590899-153590899
GRCh38: X:154362531-154362531
43 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs) Deletion Pathogenic 652215 rs1603358246 GRCh37: X:153577288-153577289
GRCh38: X:154348920-154348921
44 FLNA NM_001110556.2(FLNA):c.2565+1G>A SNV Pathogenic 575118 rs786205186 GRCh37: X:153590785-153590785
GRCh38: X:154362417-154362417
45 FLNA NM_001110556.2(FLNA):c.3814del (p.Arg1272fs) Deletion Pathogenic 533585 rs1557177636 GRCh37: X:153588265-153588265
GRCh38: X:154359897-154359897
46 FLNA NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter) SNV Pathogenic 533562 rs1557177738 GRCh37: X:153588634-153588634
GRCh38: X:154360266-154360266
47 FLNA NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter) SNV Pathogenic 853726 GRCh37: X:153594961-153594961
GRCh38: X:154366593-154366593
48 FLNA NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter) SNV Pathogenic 856285 GRCh37: X:153582022-153582022
GRCh38: X:154353654-154353654
49 FLNA NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter) SNV Pathogenic 864458 GRCh37: X:153594745-153594745
GRCh38: X:154366377-154366377
50 FLNA NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=) SNV Pathogenic 11775 rs387907371 GRCh37: X:153583193-153583193
GRCh38: X:154354825-154354825

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

72
# 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
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20 GARD
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29 GTR
30 HMDB
31 HPO
32 ICD10
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61 PubMed
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69 Tocris
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71 UMLS via Orphanet
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