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

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

? = unknown
- = not applicable
no = non-consanguineous parents
yes = consanguineous parents

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. African, white, gypsy, jew (Ashkenazi), Sardinian, etc.

Age/Death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

53 entries on 1 page. Showing entries 1 - 53.

Legend

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age/Death	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00028666	-	-	2nd daugther healthy unrelated parents	F	-	Germany	-	-	-	-	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)	-	-	-	-	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)	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028671	-	PubMed: Huttenlocher 1994, PubMed: Fox 1998	daugther of 09883725.Fam1-III.10	F	-	(United States)	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028672	-	PubMed: Huttenlocher 1994, PubMed: Fox 1998	daugther of 09883725.Fam1-III.10	F	-	(United States)	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028673	-	PubMed: Huttenlocher 1994, PubMed: Fox 1998	daugther of 09883725.Fam1-IV.2	F	-	(United States)	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028674	-	PubMed: Huttenlocher 1994, PubMed: Fox 1998	daugther of 09883725.Fam1-IV.3	F	-	(United States)	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028675	-	PubMed: Huttenlocher 1994, PubMed: Fox 1998	daugther of 09883725.Fam1-V.2	F	-	(United States)	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028676	-	PubMed: Fox 1998	mother of 09883725.Fam2-III.1, unaffected parents	F	-	(United States)	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028677	-	PubMed: Fox 1998	daugther of 09883725.Fam2-II.2	F	-	(United States)	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028678	-	PubMed: Fox 1998	unaffected parents	F	-	(United States)	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028679	-	PubMed: Fox 1998	-	F	-	(United States)	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028680	-	PubMed: Fox 1998	-	F	-	(United States)	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028681	-	-	-	M	-	(United States)	-	-	-	-	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	-	-	-	-	-	-	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	-	-	-	-	-	-	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	-	-	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028723	-	PubMed: Sheen 2001	-	F	-	-	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028724	-	PubMed: Moro 2002	mother of 2-II:5	F	-	Italy	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028755	-	PubMed: Gerard-Blanluet 2006	twin of III7,son of II6	M	-	-	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028756	-	PubMed: Gerard-Blanluet 2006	twin of III6,son of II6	M	-	-	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028757	-	PubMed: Gerard-Blanluet 2006	daughter of 16596669.II6	F	-	-	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028835	-	PubMed: Simone 2008	daughter of 18427995.mother	F	-	(Brazil)	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028836	-	PubMed: Simone 2008	Mother of 18427995.daughter	F	-	(Brazil)	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028837	-	PubMed: Sole 2009	-	F	-	France	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028838	-	PubMed: Sole 2009	-	F	-	France	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028839	-	PubMed: Sole 2009	-	F	-	France	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028840	-	PubMed: Sole 2009	-	F	-	France	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028841	-	PubMed: Sole 2009	-	F	-	France	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028842	-	PubMed: Sole 2009	mother of 19917821.22	F	-	France	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028843	-	PubMed: Sole 2009	daughter of 19917821.21	F	-	France	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028844	-	PubMed: Sole 2009	-	F	-	France	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028845	-	PubMed: Sole 2009	-	F	-	France	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028846	-	PubMed: Sole 2009	-	F	-	France	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028847	-	PubMed: Sole 2009	-	F	-	France	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028848	-	PubMed: Sole 2009	mother of 19917821.6	F	-	France	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028849	-	PubMed: Sole 2009	daughter of 19917821.32	F	-	France	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028850	-	PubMed: Sole 2009	mother of 19917821.9	F	-	France	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028851	-	PubMed: Sole 2009	daughter of 19917821.8	F	-	France	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028854	-	PubMed: Sheen 2001	-	M	-	-	-	-	-	-	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	-	-	-	-	-	-	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	-	-	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028867	-	PubMed: Sheen 2001	-	?	-	-	-	-	-	-	PVNH-1	-	FLNA	FLNA	1	1	Yu Sun
00028868	-	PubMed: Sheen 2001	-	?	-	-	-	-	-	-	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	-	-	-	-	PVNH-1	see paper; classical X-linked periventricular nodular heterotopia , ...	FLNA	FLNA	1	4	Johan den Dunnen

Legend