Disease #00777

Official abbreviation PVNH-1
Name heterotopia, periventricular, type 1 (PVNH-1)
OMIM ID 300049
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 53
Phenotype entries for this disease 53
Associated with 1 gene FLNA
Associated tissues -
Disease features -
Remarks -


Individuals

53 entries on 1 page. Showing entries 1 - 53.
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00028666 - - 2nd daugther healthy unrelated parents F - Germany - - 0 - - PVNH-1 periventricular heterotopia, type 1/frontometaphyseal dysplasia; delayed closure anterior fontanel, craniofacial anomalies, marked genua valga necessitating surgical corrections; 5y-MRI cranial bilateral PVNHs; no seizures, normal motor/mental development; 8y-radiological FMD FLNA FLNA 3 1 Yu Sun
00028669 - PubMed: Huttenlocher 1994, PubMed: Fox 1998 son of 09883725.Fam1-IV.3 M - (United States) - - 0 - - PVNH-1 death 3d, severe systemic bleeding and organ failure, severe arrest myeloid/erythroid differentiation in bone marrow, lymphoid depletion in thymus FLNA FLNA 1 1 Yu Sun
00028670 - PubMed: Huttenlocher 1994, PubMed: Fox 1998 mother of 09883725.Fam1-IV.2 and IV.3, unaffected parents F - (United States) - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028671 - PubMed: Huttenlocher 1994, PubMed: Fox 1998 daugther of 09883725.Fam1-III.10 F - (United States) - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028672 - PubMed: Huttenlocher 1994, PubMed: Fox 1998 daugther of 09883725.Fam1-III.10 F - (United States) - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028673 - PubMed: Huttenlocher 1994, PubMed: Fox 1998 daugther of 09883725.Fam1-IV.2 F - (United States) - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028674 - PubMed: Huttenlocher 1994, PubMed: Fox 1998 daugther of 09883725.Fam1-IV.3 F - (United States) - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028675 - PubMed: Huttenlocher 1994, PubMed: Fox 1998 daugther of 09883725.Fam1-V.2 F - (United States) - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028676 - PubMed: Fox 1998 mother of 09883725.Fam2-III.1, unaffected parents F - (United States) - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028677 - PubMed: Fox 1998 daugther of 09883725.Fam2-II.2 F - (United States) - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028678 - PubMed: Fox 1998 unaffected parents F - (United States) - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028679 - PubMed: Fox 1998 - F - (United States) - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028680 - PubMed: Fox 1998 - F - (United States) - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028681 - - - M - (United States) - - 0 - - PVNH-1 severe, non-lethal; shortened digits, syndactyly, clinodactyly; immune compromise, recurrent infections; small corpus callosum, hypoplastic cerebellum FLNA FLNA 1 1 Yu Sun
00028684 - PubMed: Masruha 2006 son of I-2 M - - - - 0 - - PVNH-1 Developmental Regression, West Syndrome FLNA FLNA 1 1 Yu Sun
00028685 - PubMed: Masruha 2006 son of I-2, twin of II-4 M - - - - 0 - - PVNH-1 Developmental Regression, West Syndrome FLNA FLNA 1 1 Yu Sun
00028686 - PubMed: Masruha 2006 son of I-2, twin of II-3 M - - - - 0 - - PVNH-1 Developmental Regression, West Syndrome FLNA FLNA 1 1 Yu Sun
00028690 - PubMed: Moro 2002 mother of 1-III:5, unaffected parents; 3 sons died within 1st week, a brother died as a young adult F - Italy - - 0 - - PVNH-1 epilepsy FLNA FLNA 1 1 Yu Sun
00028691 - PubMed: Moro 2002 mother of 1-IV:6 and 1-IV:9, daughter of 1-II:2; 2 sons died at 5mth/day 5, two spontaneous abortions at 5th month, one is male F - Italy - - 0 - - PVNH-1 BPNH, scattered nodules along lateral ventricle wall, slightly vertically oriented posterior hippocampal region, mega cisterna magna, complex partial seizure onset 20y,rare, remission; EEG mild R sided slowing, verbal IQ74/performance IQ97/full-scale IQ81 FLNA FLNA 1 1 Yu Sun
00028692 - PubMed: Moro 2002 elder sister of 1-IV:9, daughter of 1-III:5 F - Italy - - 0 - - PVNH-1 BPNH, scattered nodules along lateral ventricle wall, slightly vertically oriented posterior hippocampal region, mega cisterna magna, complex partial seizure onset at 20yrs,rare,remission; EEG shows mild R sided slowing, verbal IQ/performance IQ/full-scale IQ=74/97/81 FLNA FLNA 1 1 Yu Sun
00028693 - PubMed: Moro 2002 proband of family 1, daughter of 1-III:5, younger sister of 1-IV:6 F - Italy - - 0 - - PVNH-1 NH, scattered nodules along lateral ventricle wall, slightly vertically oriented posterior hippocampal region, mega cisterna magna, complex partial/secondarily generalized seizure onset at 14yrs,once in 4-5 mth,no remission; EEG shows L frontotemporal slow wave, use antiepileptic drugs:carbamazepine,topiramate;verbal IQ/performance IQ/full-scale IQ=70/81/74 FLNA FLNA 1 1 Yu Sun
00028722 - PubMed: Sheen 2001 Has 5 sons, no spontaneous miscarriages history. 2 sons might be affected. F - - - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028723 - PubMed: Sheen 2001 - F - - - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028724 - PubMed: Moro 2002 mother of 2-II:5 F - Italy - - 0 - - PVNH-1 BPNH, mega cisterna magna, complex partial/secondarily generalized seizure onset at 9yrs,rare,no remission;use antiepileptic drugs:phenobarbital;verbal IQ/performance IQ/full-scale IQ=66/85/74 FLNA FLNA 1 1 Yu Sun
00028725 - PubMed: Moro 2002 mother of 2-III:1, daughter of 2-I:3 F - Italy - - 0 - - PVNH-1 BPNH, mega cisterna magna, complex partial/secondarily generalized seizure onset at 30yrs,rare,remission;use antiepileptic drugs:phenobarbital;verbal IQ/performance IQ/full-scale IQ=71/72/70 FLNA FLNA 1 1 Yu Sun
00028726 - PubMed: Moro 2002 proband of the family, daughter of 2-II:5 F - Italy - - 0 - - PVNH-1 BPNH, mega cisterna magna, simple partial/partial secondarily generalized seizure onset at 14yrs,rare,remission;use antiepileptic drugs:phenobarbital;verbal IQ/performance IQ/full-scale IQ=100/69/83 FLNA FLNA 1 1 Yu Sun
00028754 - PubMed: Gerard-Blanluet 2006 mother of 16596669.III6,III7,III8 F - - - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028755 - PubMed: Gerard-Blanluet 2006 twin of III7,son of II6 M - - - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028756 - PubMed: Gerard-Blanluet 2006 twin of III6,son of II6 M - - - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028757 - PubMed: Gerard-Blanluet 2006 daughter of 16596669.II6 F - - - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028835 - PubMed: Simone 2008 daughter of 18427995.mother F - (Brazil) - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028836 - PubMed: Simone 2008 Mother of 18427995.daughter F - (Brazil) - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028837 - PubMed: Sole 2009 - F - France - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028838 - PubMed: Sole 2009 - F - France - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028839 - PubMed: Sole 2009 - F - France - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028840 - PubMed: Sole 2009 - F - France - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028841 - PubMed: Sole 2009 - F - France - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028842 - PubMed: Sole 2009 mother of 19917821.22 F - France - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028843 - PubMed: Sole 2009 daughter of 19917821.21 F - France - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028844 - PubMed: Sole 2009 - F - France - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028845 - PubMed: Sole 2009 - F - France - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028846 - PubMed: Sole 2009 - F - France - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028847 - PubMed: Sole 2009 - F - France - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028848 - PubMed: Sole 2009 mother of 19917821.6 F - France - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028849 - PubMed: Sole 2009 daughter of 19917821.32 F - France - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028850 - PubMed: Sole 2009 mother of 19917821.9 F - France - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028851 - PubMed: Sole 2009 daughter of 19917821.8 F - France - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028854 - PubMed: Sheen 2001 - M - - - - 0 - - PVNH-1 indistinguishable from females have FLN1 mutation. Symmetrical nodules, enlarged cisterna magna behind cerebellum, mild to moderate seizure, no MR FLNA FLNA 1 1 Yu Sun
00028855 - PubMed: Sheen 2001 - M - - - - 0 - - PVNH-1 milder in MRI than females with FLN1 mutations, few heterotopic nodules only in right hemisphere. No MR. Not intractable seizure FLNA FLNA 1 1 Yu Sun
00028864 - PubMed: Hehr 2006 - M - - - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028867 - PubMed: Sheen 2001 - ? - - - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00028868 - PubMed: Sheen 2001 - ? - - - - 0 - - PVNH-1 - FLNA FLNA 1 1 Yu Sun
00046330 - PubMed: Oegema 2013, Journal: Oegema 2013 3-generation family, 4 affected heterozygous carrier females (and 3 affected males) F no Netherlands - - 0 - - PVNH-1 see paper; classical X-linked periventricular nodular heterotopia , ... FLNA FLNA 1 4 Johan den Dunnen
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