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:
- no = non-consanguineous parents
- yes = consanguineous parents
- likely = consanguinity likely
- ? = unknown
- - = not applicable
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))
- Kosovo
- (Kosovo)
- 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. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at 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.

 Individual ID
|

 ID_report
|

 Reference
|
 Remarks
|

 Gender
|

 Consanguinity
|

 Country
|

 Population
|

 Age at death
|

 VIP
|

 Data_av
|

 Treatment
|

 Disease
|

 Phenotype details
|

 Variants
|

 Panel size
|

 Owner
|
00080921 |
- |
PubMed: Trujillano 2017 |
unaffected non-carrier parents |
- |
- |
- |
- |
- |
- |
- |
- |
OI3 |
Osteogenesis imperfecta, type III (OMIM:259420) |
1 |
1 |
Daniel Trujillano |
00104012 |
Vogelaar-512A |
PubMed: Vogelaar 2017, Journal: Vogelaar 2017 |
54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer |
- |
- |
- |
- |
- |
- |
- |
- |
cancer, gastric |
diffuse-type or intestinal-type gastric cancer |
1 |
1 |
Marjolijn JL Ligtenberg |
00105906 |
27380894-Fam1PatV7 |
PubMed: Lindert 2016, Journal: Lindert 2016 |
5-generation family, 12 affecteds, unaffected heterozygous carrier females, PatV7 |
M |
no |
Thailand |
AsianO |
- |
- |
- |
- |
OI |
osteogenesis imperfecta, fractures beginning during gestation, shortstature, white sclerae, variable scoliosis and pectal deformity,, striking tibial anterior angulation and generalized osteopenia |
1 |
12 |
Cecilia Giunta |
00131877 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
OI1 |
- |
1 |
1 |
Gemeinschaftspraxis für Humangenetik Dresden |
00132061 |
1 |
- |
- |
M |
yes |
Brazil |
- |
- |
- |
- |
- |
OI2 |
- |
1 |
1 |
Karina Silveira |
00132062 |
2 |
- |
- |
F |
no |
Brazil |
- |
- |
- |
- |
- |
OI3 |
- |
1 |
1 |
Karina Silveira |
00132063 |
3 |
- |
- |
F |
? |
Brazil |
- |
- |
- |
- |
- |
OI3 |
- |
1 |
1 |
Karina Silveira |
00132773 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Gemeinschaftspraxis für Humangenetik Dresden |
00265729 |
Family3-P7 |
- |
- |
F |
? |
Switzerland |
- |
19y |
- |
- |
- |
EDS |
- |
1 |
1 |
Lucia Micale |
00265732 |
Family6-P10 |
- |
family, 2 affected |
M |
- |
- |
- |
- |
- |
- |
- |
EDS |
long face, mild facial asymmetry, mild left esotropia, blue sclerae, soft and doughy skin all over the body, mild skin hyperextensibility of the limbs, hypermobility of the fingers and knees (Beighton score 6/8), accentuated dorsal kyphosis, flatfeet with extreme pronation of the hindfoot, genua valga, bilateral hallux valgus, and underdevelopment of the leg muscles |
1 |
2 |
Lucia Micale |
00265733 |
Family6-P11 |
- |
- |
M |
- |
- |
- |
30y |
- |
- |
- |
EDS |
- |
1 |
1 |
Lucia Micale |
00265738 |
Family10-P16 |
- |
- |
- |
- |
Italy |
- |
- |
- |
- |
- |
EDS |
- |
1 |
1 |
Lucia Micale |
00265739 |
Family1-P1 |
- |
- |
M |
- |
Italy |
- |
- |
- |
- |
- |
EDS |
EDS-related features. OI-related features were limited to mildly reduced bone mass, occasional fractures and short stature |
1 |
1 |
Lucia Micale |
00265740 |
Family2-P6 |
- |
- |
F |
- |
Switzerland |
- |
- |
- |
- |
- |
EDS |
- |
1 |
1 |
Lucia Micale |
00265741 |
Family11-P17 |
- |
- |
- |
- |
Canada |
- |
- |
- |
- |
- |
EDS |
- |
1 |
1 |
Lucia Micale |
00294516 |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
Mohammed Faruq |
00294517 |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
Mohammed Faruq |
00294518 |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
- |
- |
- |
? |
- |
1 |
5 |
Mohammed Faruq |
00299938 |
- |
PubMed: Higuchi 2021, Journal: Higuchi 2021 |
- |
F |
- |
Japan |
Japanese |
- |
- |
- |
- |
OI1 |
mild; blue sclera (HP:0000592); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) |
1 |
2 |
Yousuke Higuchi |
00299939 |
- |
PubMed: Higuchi 2021, Journal: Higuchi 2021 |
- |
M |
- |
Japan |
Japanese |
- |
- |
- |
- |
OI1 |
mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) |
1 |
1 |
Yousuke Higuchi |
00299961 |
- |
PubMed: Higuchi 2021, Journal: Higuchi 2021 |
- |
M |
- |
Japan |
Japanese |
- |
- |
- |
- |
OI |
moderate/severe; blue sclera (HP:0000592); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) |
1 |
1 |
Yousuke Higuchi |
00299962 |
- |
PubMed: Higuchi 2021, Journal: Higuchi 2021 |
- |
M |
- |
Japan |
Japanese |
- |
- |
- |
- |
OI |
moderate/severe; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) |
1 |
1 |
Yousuke Higuchi |
00299963 |
- |
PubMed: Higuchi 2021, Journal: Higuchi 2021 |
- |
M |
- |
Japan |
Japanese |
- |
- |
- |
- |
OI |
moderate/severe; blue sclera (HP:0000592); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) |
1 |
1 |
Yousuke Higuchi |
00299964 |
- |
PubMed: Higuchi 2021, Journal: Higuchi 2021 |
- |
M |
- |
Japan |
Japanese |
- |
- |
- |
- |
OI |
moderate/severe; deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) |
1 |
1 |
Yousuke Higuchi |
00299965 |
- |
PubMed: Higuchi 2021, Journal: Higuchi 2021 |
- |
M |
- |
Japan |
Japanese |
- |
- |
- |
- |
OI |
moderate/severe; blue sclera (HP:0000592); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) |
1 |
1 |
Yousuke Higuchi |
00299966 |
- |
PubMed: Higuchi 2021, Journal: Higuchi 2021 |
- |
M |
- |
Japan |
Japanese |
- |
- |
- |
- |
OI |
moderate/severe; blue sclera (HP:0000592); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) |
1 |
1 |
Yousuke Higuchi |
00299967 |
- |
PubMed: Higuchi 2021, Journal: Higuchi 2021 |
- |
F |
- |
Japan |
Japanese |
- |
- |
- |
- |
OI |
moderate/severe; no blue sclera (-HP:0000592); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) |
1 |
1 |
Yousuke Higuchi |
00299968 |
- |
PubMed: Higuchi 2021, Journal: Higuchi 2021 |
- |
F |
- |
Japan |
Japanese |
- |
- |
- |
- |
OI |
moderate/severe; deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) |
1 |
1 |
Yousuke Higuchi |
00299969 |
- |
PubMed: Higuchi 2021, Journal: Higuchi 2021 |
- |
M |
- |
Japan |
Japanese |
- |
- |
- |
- |
OI |
moderate/severe; deformities lower extremity; |
1 |
1 |
Yousuke Higuchi |
00299970 |
- |
PubMed: Higuchi 2021, Journal: Higuchi 2021 |
- |
F |
- |
Japan |
Japanese |
- |
- |
- |
- |
OI |
moderate/severe; deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) |
1 |
1 |
Yousuke Higuchi |
00299971 |
- |
PubMed: Higuchi 2021, Journal: Higuchi 2021 |
- |
M |
- |
Japan |
Japanese |
- |
- |
- |
- |
OI |
moderate/severe; deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) |
1 |
1 |
Yousuke Higuchi |
00299972 |
- |
PubMed: Higuchi 2021, Journal: Higuchi 2021 |
- |
F |
- |
Japan |
Japanese |
- |
- |
- |
- |
OI |
moderate/severe; no blue sclera (-HP:0000592); deformities lower extremity; no recurrent fractures (-HP:0002757); bone fragility (-HP:0002659) |
1 |
1 |
Yousuke Higuchi |
00299973 |
- |
PubMed: Higuchi 2021, Journal: Higuchi 2021 |
- |
F |
- |
Japan |
Japanese |
- |
- |
- |
- |
OI |
moderate/severe; deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) |
1 |
1 |
Yousuke Higuchi |
00299974 |
- |
PubMed: Higuchi 2021, Journal: Higuchi 2021 |
- |
M |
- |
Japan |
Japanese |
- |
- |
- |
- |
OI |
moderate/severe; no blue sclera (-HP:0000592); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) |
1 |
1 |
Yousuke Higuchi |
00299975 |
- |
PubMed: Higuchi 2021, Journal: Higuchi 2021 |
- |
F |
- |
Japan |
Japanese |
- |
- |
- |
- |
OI |
moderate/severe; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) |
1 |
1 |
Yousuke Higuchi |
00299976 |
- |
PubMed: Higuchi 2021, Journal: Higuchi 2021 |
- |
F |
- |
Japan |
Japanese |
- |
- |
- |
- |
OI |
moderate/severe; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) |
1 |
1 |
Yousuke Higuchi |
00299977 |
- |
PubMed: Higuchi 2021, Journal: Higuchi 2021 |
- |
F |
- |
Japan |
Japanese |
- |
- |
- |
- |
OI |
moderate/severe; deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) |
1 |
1 |
Yousuke Higuchi |
00299978 |
- |
PubMed: Higuchi 2021, Journal: Higuchi 2021 |
- |
F |
- |
Japan |
Japanese |
- |
- |
- |
- |
OI |
moderate/severe; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) |
1 |
1 |
Yousuke Higuchi |
00299979 |
- |
PubMed: Higuchi 2021, Journal: Higuchi 2021 |
- |
M |
- |
Japan |
Japanese |
- |
- |
- |
- |
OI |
moderate/severe; deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) |
1 |
1 |
Yousuke Higuchi |
00299980 |
- |
PubMed: Higuchi 2021, Journal: Higuchi 2021 |
- |
F |
- |
Japan |
Japanese |
- |
- |
- |
- |
OI |
moderate/severe; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) |
1 |
1 |
Yousuke Higuchi |
00300364 |
Fam18 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
- |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00300365 |
Fam19 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
- |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00300366 |
Fam20 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
- |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00300367 |
Fam21 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
- |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00300368 |
Fam22 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
- |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00300369 |
Fam23 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
- |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00300370 |
Fam24 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
- |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00300371 |
Fam25 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
- |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00300372 |
Fam26 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
- |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00300373 |
Fam27 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
- |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00300405 |
Fam58 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
F |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00300406 |
Fam59 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
M |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00300407 |
Fam60 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
M |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00300408 |
Fam61 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
F |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00300409 |
Fam62 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
M |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00300410 |
Fam63 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
F |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00300411 |
Fam64 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
F |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00300412 |
Fam65 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
M |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00300413 |
Fam66 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
F |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00300414 |
Fam67 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
M |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00300415 |
Fam68 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
F |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00300416 |
Fam69 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
M |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00300417 |
Fam70 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
M |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00300418 |
Fam71 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
M |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00300419 |
Fam72 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
F |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00300420 |
Fam73 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
M |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00300421 |
Fam74 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
F |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00300422 |
Fam75 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
F |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00300423 |
Fam76 |
PubMed: Liu 2017 |
analysis 101 unrelated OI families |
M |
- |
China |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Johan den Dunnen |
00306112 |
OI-pat1 |
- |
- |
M |
no |
India |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Ashis Kumar |
00320168 |
- |
- |
- |
? |
- |
- |
- |
- |
- |
- |
- |
? |
Skeletal dysplasia (HP:0002652) |
1 |
1 |
IMGAG |
00320567 |
UA08 |
PubMed: Zhytnik 2019 |
- |
- |
- |
Ukraine |
- |
- |
- |
- |
- |
OI, OI4 |
- |
1 |
1 |
Lidiia Zhytnik |
00320574 |
UA85 |
PubMed: Zhytnik 2019 |
- |
- |
- |
Ukraine |
- |
- |
- |
- |
- |
OI, OI1 |
- |
1 |
1 |
Lidiia Zhytnik |
00322824 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
OI, OI4 |
- |
1 |
1 |
Isabel Mandy Nesbitt |
00322826 |
- |
PubMed: Schwarze et al., 2004 |
Both mutations result in null alleles. |
- |
- |
- |
- |
- |
- |
- |
- |
EDS |
- |
2 |
1 |
Peter Byers |
00322827 |
- |
PubMed: Zhuang et al., 1996 PubMed: Yoneyama et al., 2004 PubMed: Chan et al., 2008 PubMed: Bodian et al., 2009 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
Raymond Dalgleish |
00322829 |
- |
- |
Complete sequencing of COL1A1 and COL1A2, no other changes detected |
- |
- |
- |
- |
- |
- |
- |
- |
OI |
- |
1 |
1 |
Isabel Mandy Nesbitt |
00322830 |
- |
Morlino et al., submitted 2019 |
Father of affected individual AN_005716. |
- |
- |
- |
- |
- |
- |
- |
- |
EDS |
Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap, |
1 |
1 |
Marina Colombi, Marco Ritelli |
00322831 |
- |
- |
- |
- |
- |
- |
Brazilian |
- |
- |
- |
- |
OI, OI1 |
Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta), |
1 |
1 |
Lilia D'Souza-Li |
00322832 |
- |
PubMed: Giunta and Steinmann, 2008 |
The deletion causes skipping of exon 6. The patient's daughter also harbours the same mutation. |
- |
- |
- |
- |
- |
- |
- |
- |
EDS, EDSARTH2 |
- |
1 |
1 |
Raymond Dalgleish |
00322833 |
- |
PubMed: Byers et al., 1997 |
The mutation in this patient in terms of genomic coordinates is g.11990_12072del |
- |
- |
- |
- |
- |
- |
- |
- |
EDS, EDSARTH2 |
- |
1 |
1 |
Peter Byers |
00322834 |
- |
PubMed: Byers et al., 1997 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
EDS, EDSARTH2 |
- |
1 |
1 |
Peter Byers |
00322835 |
- |
PubMed: Marini et al., 2007 (Marini, Cabral and Pals, personal communication) |
- |
- |
- |
- |
- |
- |
- |
- |
- |
EDS, EDSARTH2 |
- |
1 |
1 |
Raymond Dalgleish |
00322836 |
- |
PubMed: Klaassens et al., 2011 |
The mutation results in use of a cryptic splice site 15 bases into exon 6, resulting in the loss of the first 5 amino acids. |
- |
- |
- |
white |
- |
- |
- |
- |
EDS, EDSARTH2 |
- |
1 |
1 |
Raymond Dalgleish |
00322837 |
- |
PubMed: Byers et al., 1997 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
EDS, EDSARTH2 |
- |
1 |
1 |
Peter Byers |
00322838 |
- |
PubMed: Chiodo et al., 1992 |
The mutation acivates a cryptic splice acceptor in exon 6 resulting in the loss of the first 5 amino acids encoded by that exon. |
- |
- |
- |
- |
- |
- |
- |
- |
EDS, EDSARTH2 |
Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap, |
1 |
1 |
Raymond Dalgleish |
00322839 |
- |
PubMed: Strobel et al., 1992 PubMed: Yoneyama et al., 2004 PubMed: Chan et al., 2008 PubMed: Bodian et al., 2009 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
Raymond Dalgleish |
00322840 |
- |
PubMed: Byers et al., 1997 |
Skips exon 6. |
- |
- |
- |
- |
- |
- |
- |
- |
EDS, EDSARTH2 |
- |
1 |
1 |
Peter Byers |
00322841 |
- |
PubMed: Weil et al., 1989b |
Skips exon 6. The mutation was demonstrated to be temperature-sensitive in this patient. |
- |
- |
- |
- |
- |
- |
- |
- |
EDS, EDSARTH2 |
- |
1 |
1 |
Raymond Dalgleish |
00322842 |
- |
PubMed: Weil et al., 1990 |
Skips exon 6. |
- |
- |
- |
- |
- |
- |
- |
- |
EDS, EDSARTH2 |
- |
1 |
1 |
Raymond Dalgleish |
00322843 |
- |
PubMed: Vasan et al., 1991 |
Skips exon 6.The technique used was S1 nuclease. |
- |
- |
- |
- |
- |
- |
- |
- |
EDS, EDSARTH2 |
- |
1 |
1 |
Raymond Dalgleish |
00322844 |
- |
PubMed: Nicholls et al., 1991 |
Skips exon 6. |
- |
- |
- |
- |
- |
- |
- |
- |
EDS, EDSARTH2 |
- |
1 |
1 |
Raymond Dalgleish |
00322845 |
- |
PubMed: Watson et al., 1992 |
Skips exon 6. The clinical details of the proband and members of her family were previously described by {PMID3621666:Viljoen et al., 1987}. |
- |
- |
- |
- |
- |
- |
- |
- |
EDS, EDSARTH2 |
- |
1 |
1 |
Peter Byers |
00322846 |
- |
PubMed: Lehmann et al., 1994 |
Skips exon 6. |
- |
- |
- |
- |
- |
- |
- |
- |
EDS, EDSARTH2 |
- |
1 |
1 |
Raymond Dalgleish |
00322847 |
- |
PubMed: Giunta et al., 1999 |
Skips exon 6. |
- |
- |
- |
- |
- |
- |
- |
- |
EDS, EDSARTH2 |
- |
1 |
1 |
Raymond Dalgleish |
00322848 |
- |
PubMed: Klaassens et al., 2011 |
- |
- |
- |
- |
white |
- |
- |
- |
- |
EDS, EDSARTH2 |
- |
1 |
1 |
Raymond Dalgleish |
00322849 |
- |
PubMed: Byers et al., 1997 |
Skips exon 6. |
- |
- |
- |
- |
- |
- |
- |
- |
EDS, EDSARTH2 |
- |
1 |
1 |
Peter Byers |
00322850 |
- |
PubMed: Byers et al., 1997 |
Skips exon 6. |
- |
- |
- |
- |
- |
- |
- |
- |
EDS, EDSARTH2 |
- |
1 |
1 |
Peter Byers |
00322851 |
- |
PubMed: Nicholls et al., 2000 |
Skips exon 6. The proband's mother is somatically mosaic for the same mutation. |
- |
- |
- |
- |
- |
- |
- |
- |
EDS, EDSARTH2 |
- |
1 |
1 |
Raymond Dalgleish |
00322852 |
- |
PubMed: Klaassens et al., 2011 |
The patient's father has mild symptoms of EDS but somatic mosaicism was not demonstrated by mutation analysis of blood, fibroblast and saliva DNA. |
- |
- |
- |
white |
- |
- |
- |
- |
EDS, EDSARTH2 |
- |
1 |
1 |
Raymond Dalgleish |