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
|
 Genes screened
|
 Variants in genes
|

 Variants
|

 Panel size
|

 Owner
|
00116638 |
21426410-Pat2 |
PubMed: Oeffner 2011 |
- |
M |
- |
- |
white |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
congenital ichthyosis, total alopecia, inguinal hernia, short stature, photophobia, thickened dystrophic nails; typical IFAP triad, psychomotor development normal; corneal scars |
MBTPS2 |
MBTPS2 |
1 |
1 |
Emmelien Aten |
00116639 |
23316014-Fam10PatII1 |
PubMed: Bornholdt 2013 |
- |
M |
? |
Sweden |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
Dry skin at birth. Follicular keratosis (inflamed) and hair-loss from 3 mo. of age. Alopecia totalis. Photophobia. Psychomotor development normal. The boy´s maternal uncle reportedly has a similar phenotype but did not wish to be investigated; IFAP syndrome |
MBTPS2 |
MBTPS2 |
1 |
1 |
Karl-Heinz Grzeschik |
00116640 |
23316014-Fam12PatII1 |
PubMed: Bornholdt 2013 |
2-generation family, 2 affected males |
M |
? |
United Kingdom (Great Britain) |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
IFAP triad and follicular hyperkeratosis present from infancy; no hair or eyelashes; corneal ulceration; poor teeth (? caries), poor nails (? chronic fungal infection); mild global developmental delay, generalised seizures, strabismus, macrocephaly (>90th centile) and frontal bossing; IFAP syndrome |
MBTPS2 |
MBTPS2 |
1 |
3 |
Karl-Heinz Grzeschik |
00116641 |
23316014-Fam12PatII2 |
PubMed: Bornholdt 2013 |
affected brother of Fam12PatII1, genotype not analyzed |
M |
? |
United Kingdom (Great Britain) |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
IFAP triad and follicular hyperkeratosis; punctate epithelial erosions of the cornea with corneal vascularisation; poor teeth (? caries), poor nails (? chronic fungal infection); mild global developmental delay; inguinal hernia; IFAP syndrome |
MBTPS2 |
MBTPS2 |
1 |
1 |
Karl-Heinz Grzeschik |
00116642 |
23316014-Fam12PatI1 |
PubMed: Bornholdt 2013 |
mother of Fam12PatII1 and Fam12PatII2, genotype not analyzed |
F |
? |
United Kingdom (Great Britain) |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
Single patch of alopecia; normal skin apart from eczema during childhood); normal eyes (apart from surgically-corrected strabismus); IFAP syndrome |
MBTPS2 |
MBTPS2 |
1 |
1 |
Karl-Heinz Grzeschik |
00116643 |
23316014-Fam7PatII1 |
PubMed: Bornholdt 2013 |
- |
M |
no |
France |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
IFAP triad; IFAP syndrome |
MBTPS2 |
MBTPS2 |
1 |
4 |
Karl-Heinz Grzeschik |
00116644 |
23316014-Fam7PatI1 |
PubMed: Bornholdt 2013 |
- |
F |
? |
France |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
Eczema and psoriasis; severe ichthyosis with palmo-plantar hyperkeratosis; ungual dysplasia; IFAP syndrome |
MBTPS2 |
MBTPS2 |
1 |
1 |
Karl-Heinz Grzeschik |
00116645 |
23316014-Fam7PatI3 |
PubMed: Bornholdt 2013 |
sister of Fam7PatI1 |
F |
? |
France |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
Eczema and psoriasis; severe ichthyosis with palmo-plantar hyperkeratosis; ungual dysplasia; IFAP syndrome |
MBTPS2 |
MBTPS2 |
1 |
1 |
Karl-Heinz Grzeschik |
00116646 |
23316014-Fam7PatII2 |
PubMed: Bornholdt 2013 |
daughter of Fam7PatI3 |
F |
no |
France |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
Keratosis pilaris, mainly affecting the lower limbs; IFAP syndrome |
MBTPS2 |
MBTPS2 |
1 |
1 |
Karl-Heinz Grzeschik |
00116647 |
23316014-Fam8PatII2 |
PubMed: Bornholdt 2013 |
- |
M |
? |
Germany |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
Complete atrichia, pronounced mental retardation, short stature, mild photophobia, scarring of cornea at age 3 y, ichthyotic skin, hyperkeratotic nails, mediastinal germ cell tumor at age 20 y; IFAP syndrome |
MBTPS2 |
MBTPS2 |
1 |
2 |
Karl-Heinz Grzeschik |
00116648 |
23316014-Fam8PatII1 |
PubMed: Bornholdt 2013 |
sister of Fam8PatII2 |
F |
? |
Germany |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
none reported; IFAP syndrome |
MBTPS2 |
MBTPS2 |
1 |
1 |
Karl-Heinz Grzeschik |
00116649 |
23316014-Fam16PatI1 |
PubMed: Bornholdt 2013 |
- |
M |
? |
United States |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
Hispanic male born at 38 weeks, pregnancy complicated by polyhydramnios. At birth diffusely red and dry skin, absent scalp hair, eyebrows, eyelashes; diffuse, spiny, keratotic follicular papules most prominent over scalp and eyebrows. At 4 weeks complete loss of scalp hair, eyebrows and eyelashes; very tiny keratotic spicules all over, most noticeable on forehead; nails normal; no keratoderma; hearing screen normal; ophthalmology exam reported as normal; no mention of photophobia. At 1 year 9 month: photophobia present; immunological abnormalities, mild B cell lymphopenia, poor antibody response. No family history of similar disorders; IFAP syndrome |
MBTPS2 |
MBTPS2 |
1 |
1 |
Karl-Heinz Grzeschik |
00116650 |
23316014-Fam19PatII1 |
PubMed: Bornholdt 2013 |
son of Fam19PatI1 |
M |
? |
France |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
IFAP triad; mental retardation, vertebral anomalies; IFAP syndrome |
MBTPS2 |
MBTPS2 |
1 |
2 |
Karl-Heinz Grzeschik |
00116651 |
23316014-Fam19PatI1 |
PubMed: Bornholdt 2013 |
mother of Fam19PatII1 |
F |
? |
France |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
none reported; IFAP syndrome |
MBTPS2 |
MBTPS2 |
1 |
1 |
Karl-Heinz Grzeschik |
00116652 |
23316014-Fam15PatII1 |
PubMed: Bornholdt 2013 |
brother of Fam15PatII2 |
M |
? |
Lebanon |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
Ichthyosis follicularis; noncicatricial universal alopecia; photophobia, madarosis; corneal vascularisation; hyperkeratotic psoriasis-like lesions; nail dystrophy; inguineal herniae; cryptorchidism, short statue; seizures; psychomotor developmental delay; IFAP syndrome |
MBTPS2 |
MBTPS2 |
1 |
2 |
Karl-Heinz Grzeschik |
00116653 |
23316014-Fam15PatII2 |
PubMed: Bornholdt 2013 |
brother of Fam15PatII1 |
M |
? |
Lebanon |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
Ichthyosis follicularis, noncicatricial universal alopecia, photophobia, madarosis, corneal vascularisation, hyperkeratotic psoriasis-like lesions, nail dystrophy; inguineal herniae; cryptorchidism; short statue; seizures; psychomotor developmental delay; bilateral absence of 4th fingers and camptodactyly; IFAP syndrome |
MBTPS2 |
MBTPS2 |
1 |
1 |
Karl-Heinz Grzeschik |
00116654 |
23316014-Fam9PatII1 |
PubMed: Bornholdt 2013 |
- |
M |
? |
Germany |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
Congenital ichthyosis with dry skin and mild scaling, follicular keratosis of capillitium with mild erythema, primary universal alopecia, no eyebrows, very small eyelashes, pronounced follicular keratoses on knees and over the Achilles tendon, patches of â??psoriasiform skin lesionsâ? on the lower legs (at age of 3 y), generalized hypohidrosis, history of perioral eczema. Histology: Ichthyosis follicularis, atrichia, hyperkeratosis of the sweet gland ducts. Neurology: delayed speech development, EEG normal. ENT: Moderate hearing deficit (> 40 db). Others: Mild syndactyly of the toe, inguinal hernia at the age of 4y; IFAP syndrome |
MBTPS2 |
MBTPS2 |
1 |
3 |
Karl-Heinz Grzeschik |
00116655 |
23316014-Fam9PatI1 |
PubMed: Bornholdt 2013 |
mother of Fam9PatII1 and Fam9PatII2 |
F |
? |
Germany |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
Striate hyperkeratosis along Blaschko lines of both legs and soles with striate hypohidrosis (sweat testing). Histology from affected areas: ichthyosis follicularis; IFAP syndrome |
MBTPS2 |
MBTPS2 |
1 |
1 |
Karl-Heinz Grzeschik |
00116656 |
23316014-Fam9PatII2 |
PubMed: Bornholdt 2013 |
sister of Fam9PatII1 |
F |
? |
Germany |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
Delayed speech development, skin phenotype:none reported; IFAP syndrome |
MBTPS2 |
MBTPS2 |
1 |
1 |
Karl-Heinz Grzeschik |
00116657 |
23316014-Fam13PatI1 |
PubMed: Bornholdt 2013 |
- |
M |
? |
Algeria |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
At 2 years of age: non inflammatory diffuse follicular hyperkeratosis, noncicatricial generalised congenital alopecia, and photophobia; ophthalmologic examination normal; onychodystrophia of third toe of right foot (mycologic examination negative); right cryptorchidism; IFAP syndrome |
MBTPS2 |
MBTPS2 |
1 |
1 |
Karl-Heinz Grzeschik |
00116658 |
23316014-Fam11PatII1 |
PubMed: Bornholdt 2013 |
- |
M |
? |
Syria |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
Dry skin and keratosis follicularis since birth. Hair-loss at 12 mo. of age resulting in almost complete alopecia. Photophobia and corneal ulcers. Psychomotor development normal; IFAP syndrome |
MBTPS2 |
MBTPS2 |
1 |
2 |
Karl-Heinz Grzeschik |
00116659 |
23316014-Fam11PatII2 |
PubMed: Bornholdt 2013 |
brother of Fam11PatII1 |
M |
? |
Syria |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
Dry skin and keratosis follicularis since birth. Hair-loss at 12 mo. of age resulting in almost complete alopecia. Photophobia and corneal ulcers. Psychomotor development normal; IFAP syndrome |
MBTPS2 |
MBTPS2 |
1 |
1 |
Karl-Heinz Grzeschik |
00116660 |
23316014-Fam14PatII1 |
PubMed: Bornholdt 2013 |
- |
M |
? |
Netherlands |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
IFAP; mild psychomotor delay; inguinal hernia; IFAP syndrome |
MBTPS2 |
MBTPS2 |
1 |
2 |
Karl-Heinz Grzeschik |
00116661 |
23316014-Fam14PatI1 |
PubMed: Bornholdt 2013 |
mother of Fam14PatII1 |
F |
? |
Netherlands |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
Normal phenotype, without IFAP related problems; IFAP syndrome |
MBTPS2 |
MBTPS2 |
1 |
1 |
Karl-Heinz Grzeschik |
00116663 |
23316014-Fam17PatI1 |
PubMed: Bornholdt 2013 |
- |
M |
? |
Sri Lanka |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
IFAP triad; reduced sweating, normal nails and teeth, marked ichthyosis over pressure areas, extensor surfaces of limbs, buttock cleft; poor vision, myopia; severe photophobia, corneal scars; hoarse voice with vocal nodules; psychomotor development normal; height and weight <0.4th centile, OFC 9-25th centile; IFAP syndrome |
MBTPS2 |
MBTPS2 |
1 |
1 |
Karl-Heinz Grzeschik |
00116666 |
19361614-Fam1PatII5 |
PubMed: Oeffner 2009 |
Fam1PatII5 |
M |
- |
Germany |
European |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
death 1y; IFAP triad, pronounced photophobia; IFAPS |
MBTPS2 |
MBTPS2 |
1 |
1 |
Emmelien Aten |
00116667 |
19361614-Fam1PatIII1 |
PubMed: Oeffner 2009 |
Fam1PatIII1 |
M |
- |
Germany |
European |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
IFAP triad, eczematous changes shoulders/limbs, frequent skin infections, nail dystrophy, ptosis left upper eyelid; IFAPS |
MBTPS2 |
MBTPS2 |
1 |
1 |
Emmelien Aten |
00116671 |
19361614-Fam2PatII8 |
PubMed: Oeffner 2009 |
Fam2PatII8 |
M |
- |
Australia |
European |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
born with hair, subsequently developed alopecia, dystrophic fingernails; atypical; IFAPS |
MBTPS2 |
MBTPS2 |
1 |
1 |
Emmelien Aten |
00116672 |
19361614-Fam2PatIII1 |
PubMed: Oeffner 2009 |
Fam2PatIII1 |
M |
- |
Australia |
European |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
birth-full head dark hair; 4m-hair shed, no new hair appeared (scalp/eyebrows); 18m-total alopecia, complete absence scalp hair, eyebrows, diminutive eyelashes, dry skin widespread follicular papules, normal teeth, no dysmorphic features, not photophobic, sweat test normal; 10y-prominent generalized follicular ichthyosis, dystrophy fingernails, mild photophobia, astigmatism, recurrent staphylococcal folliculitis, psoriasiform plaques elbows, knees, Achilles tendons; IFAPS |
MBTPS2 |
MBTPS2 |
1 |
1 |
Emmelien Aten |
00116676 |
19361614-Fam2PatIV2 |
PubMed: Oeffner 2009 |
Fam2PatIV2 |
M |
- |
Australia |
European |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
IFAP triad, dystrophic nails, perleche; IFAPS |
MBTPS2 |
MBTPS2 |
1 |
1 |
Emmelien Aten |
00116684 |
19361614-Fam3PatIII3 |
PubMed: Oeffner 2009 |
Fam3PatIII3 |
M |
- |
Germany |
European |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
IFAPS |
MBTPS2 |
MBTPS2 |
1 |
1 |
Emmelien Aten |
00116685 |
19361614-Fam3PatIII4 |
PubMed: Oeffner 2009 |
Fam3PatIII4 |
M |
- |
Germany |
European |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
IFAPS |
MBTPS2 |
MBTPS2 |
1 |
1 |
Emmelien Aten |
00116686 |
19361614-Fam4PatI1 |
PubMed: Oeffner 2009 |
mildly affected mother (dry skin, bald patches scalp) |
M |
- |
Spain |
European |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
IFAP triad with pronounced photophobia, dermatitis arms/legs, corneal pannus; IFAPS |
MBTPS2 |
MBTPS2 |
1 |
1 |
Emmelien Aten |
00116687 |
19361614-Fam5PatI1 |
PubMed: Oeffner 2009, PatIV8 in PubMed: Boente 2000 |
- |
M |
- |
Argentina |
European |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
IFAP triad, hyperkeratosis around joints, perlèche, perianal erythema, plantar keratoderma, subungual hyperkeratoses, periungual erythema and hyperkeratosis, inguinal hernia, cryptorchidism; IFAPS |
MBTPS2 |
MBTPS2 |
1 |
1 |
Emmelien Aten |
00116689 |
19361614-Fam6PatII1 |
PubMed: Oeffner 2009 |
Fam6PatII1 |
M |
- |
Algeria |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
IFAP triad; see paper ... |
MBTPS2 |
MBTPS2 |
1 |
1 |
Emmelien Aten |
00116690 |
19361614-Fam6PatII4 |
PubMed: Oeffner 2009 |
Fam6PatII4 |
M |
- |
Algeria |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
IFAP triad; IFAPS |
MBTPS2 |
MBTPS2 |
1 |
1 |
Emmelien Aten |
00116691 |
- |
PubMed: Ming 2009 |
maternal second cousin of 19361614.Fam2-I.2, mother of 19361614.Fam2-III.1 / .2 |
M |
- |
Australia |
European |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
scalp alopecia; IFAPS |
MBTPS2 |
MBTPS2 |
1 |
1 |
Emmelien Aten |
00116692 |
20545687-FamPatIII1 |
PubMed: Ding 2010 |
3-generation family, carrier mother with 2 affected brothers, PatIII.2 |
M |
- |
China |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
born with full head of hair. dry and rough skin. hypotrochosis at age 9. mild photophobia. mild myopia; IFAP syndrome; no intellectual disability |
MBTPS2 |
MBTPS2 |
1 |
2 |
Emmelien Aten |
00116693 |
20545687-FamPatIII2 |
PubMed: Ding 2010 |
PatIII2 |
M |
- |
China |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
born with full head of hair, later patchy alopecia. photophobia. left inguinal hernia. widespread follicular papules; IFAP syndrome; no intellectual disability |
MBTPS2 |
MBTPS2 |
1 |
1 |
Emmelien Aten |
00116697 |
- |
- |
- |
M |
- |
Japan |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
congenital alopecia. photophobia. seizures. bilateral cryptorchidism. generalized skin dryness. thickened nails. delayed bone age. growth retardation. psychomotor retardation; IFAP syndrome; intellectual disability |
MBTPS2 |
MBTPS2 |
1 |
1 |
Emmelien Aten |
00116699 |
- |
- |
borther of Fam1.b |
M |
- |
United Kingdom (Great Britain) |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
7y-IFAP, corneal scarring, abnormal nails, development delay, growth retardation, head tilt, corneall involvement, brain abnormalities, seizures; IFAPS |
MBTPS2 |
MBTPS2 |
1 |
1 |
Emmelien Aten |
00116700 |
- |
- |
borther of Fam1.a |
M |
- |
United Kingdom (Great Britain) |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
4y-IFAP, corneal scarring, abnormal nails, development delay, growth retardation, head tilt, corneall involvement, brain abnormalities, seizures; IFAPS |
MBTPS2 |
MBTPS2 |
1 |
1 |
Emmelien Aten |
00116701 |
- |
- |
mother has several mild symptoms |
M |
- |
United Kingdom (Great Britain) |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
3y-IFAP, corneal scarring, developmental delay, growth retardation; IFAPS |
MBTPS2 |
MBTPS2 |
1 |
2 |
Emmelien Aten |
00116702 |
- |
- |
- |
M |
- |
United Kingdom (Great Britain) |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
15y-IFAP, developmental delay, head tilt; IFAPS |
MBTPS2 |
MBTPS2 |
1 |
1 |
Emmelien Aten |
00116705 |
- |
PubMed: Tang |
- |
M |
- |
China |
- |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
congenital alopecia, photophobia, absent eyebrows and eyelashes (total atrichia). scaly plaques on scalp, extensor part extremities. spiny keratotic follicular papules abdomen and axillae. impaired vision. delayed bone age. MR; IFAP syndrome; intellectual disability; Ocular_changes |
MBTPS2 |
MBTPS2 |
2 |
1 |
Emmelien Aten |
00116706 |
21426410-Pat3 |
PubMed: Oeffner 2011 |
- |
M |
- |
- |
Jewish-Ashkenazi |
- |
0 |
- |
- |
IFAP syndrome with/without BRESHECK syndrome |
typical IFAP, see paper ... |
MBTPS2 |
MBTPS2 |
1 |
1 |
Johan den Dunnen |