Disease #00472 (OAS (oculo-auricular syndrome (OAS)), OMIM:612109)

Official abbreviation	OAS
Name	oculo-auricular syndrome (OAS)
OMIM ID	612109
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	-
Individuals reported having this disease	19
Phenotype entries for this disease	18
Associated with 1 gene	HMX1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-07-24 08:43:38 +02:00 (CEST)
Date last edited	2015-12-07 07:11:25 +01:00 (CET)

Individuals

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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.

How to query this table

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Operator	Column type	Example	Matches
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\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
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^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
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=""	Text	="p.0"	all entries exactly matching 'p.0'
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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
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>=	Numeric	>=23	all entries higher than, or equal to, 23
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Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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19 entries on 1 page. Showing entries 1 - 19.

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How to query

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
00018566	-	-	2 patients (cousins)	M	yes	(Pakistan)	Asian	-	-	-	-	OAS	microphthalmia, microcornea, sclerocornea, posterior embryotoxon, congenital cataract, iris coloboma, uveoretinal coloboma, early-onset retinal dystrophy, dysplastic optic discs, low-set ears, malformation of the external ear cartilage	HMX1	HMX1	1	2	Rachel Gillespie
00404909	EFAV_55	PubMed: Estandia-Ortega 2022	1 patient (Male)	M	no	Mexico	-	-	-	-	none	OAS	Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000403), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452)	EYA1, HOXA2, SALL1, TBX1, TCOF1	TCOF1	1	1	Miriam Erandi Reyna-Fabián
00406527	EFAV_147	PubMed: Estandia-Ortega 2022	4 cases (3F, 1M)	F	no	Mexico	-	-	-	-	none	OAS	Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000403), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452), hemifacial hypoplasia (HPO:0011332)	EYA1, HOXA2, SALL1, TBX1, TCOF1	TCOF1	1	1	Miriam Erandi Reyna-Fabián
00406530	EFAV_035	PubMed: Estandia-Ortega 2022	6 patients (4F, 2M)	F	no	Mexico	-	-	-	-	none	OAS	Microtia (HPO:0008551), stenosis of the external auditory canal (HPO:0000402), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452), facial paralysis (HP:0007209)	EYA1, HOXA2, SALL1, TBX1, TCOF1	TCOF1	1	1	Miriam Erandi Reyna-Fabián
00408464	EFAV_110	PubMed: Estandia-Ortega 2022	4 patients (3F, 1M)	M	no	Mexico	-	-	-	-	none	OAS	Microtia (HPO:0008551), hemifacial hypoplasia (HPO:0011332), facial paralysis (HP:0007209), Vertebral clefting (HP:0008428)	EYA1, HOXA2, SALL1, TBX1, TCOF1	TCOF1	1	1	Miriam Erandi Reyna-Fabián
00408466	EFAV_52	PubMed: Estandia-Ortega 2022	21 patients (16M, 5F)	M	no	Mexico	-	-	-	-	none	OAS	Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000403), ossicular chain abnormality (HPO:004452), conductive hearing impairment (HPO:0000405)	EYA1, HOXA2, SALL1, TBX1, TCOF1	TCOF1	1	1	Miriam Erandi Reyna-Fabián
00408552	EFAV-79	PubMed: Estandia-Ortega 2022	1 patient	F	no	Mexico	-	-	-	-	None	OAS	Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452)	EYA1, HOXA2, SALL1, TBX1, TCOF1	TCOF1	1	1	Miriam Erandi Reyna-Fabián
00408819	EFAV_156	PubMed: Estandia-Ortega 2022	1 patient	M	no	Mexico	-	-	-	-	none	OAS	Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452), Vertebral clefting (HP:0008428)	EYA1, HOXA2, SALL1, TBX1, TCOF1	SALL1	1	1	Miriam Erandi Reyna-Fabián
00408820	EFAV_45	PubMed: Estandia-Ortega 2022	4 patients (4 male)	M	no	Mexico	-	-	-	-	none	OAS	Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), ossicular chain abnormality (HPO:004452), conductive hearing impairment (HPO:0000405), supernumerary ribs (HPO:0005815)	EYA1, HOXA2, SALL1, TBX1, TCOF1	SALL1, TBX1	2	1	Miriam Erandi Reyna-Fabián
00408821	EFAV_107	PubMed: Estandia-Ortega 2022	5 patients (3 male, 2 female)	F	likely	Mexico	-	-	-	-	none	OAS	Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452), Vertebral clefting (HP:0008428)	EYA1, HOXA2, SALL1, TBX1, TCOF1	SALL1	1	1	Miriam Erandi Reyna-Fabián
00408822	EFAV_129	PubMed: Estandia-Ortega 2022	1 patient	M	no	Mexico	-	-	-	-	none	OAS	Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413),conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452), hemifacial hypoplasia (HPO:0011332)	EYA1, HOXA2, SALL1, TBX1, TCOF1	SALL1	1	1	Miriam Erandi Reyna-Fabián
00408823	EFAV_96	PubMed: Estandia-Ortega 2022	1 patient	M	no	Mexico	-	-	-	-	none	OAS	Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452).	EYA1, HOXA2, SALL1, TBX1, TCOF1	SALL1	1	1	Miriam Erandi Reyna-Fabián
00408824	EFAV_96	PubMed: Estandia-Ortega 2022	49 patients (31 male, 18 female)	M	no	Mexico	-	-	-	-	none	OAS	Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452).	EYA1, HOXA2, SALL1, TBX1, TCOF1	SALL1	1	1	Miriam Erandi Reyna-Fabián
00408825	EFAV_135	PubMed: Estandia-Ortega 2022	1 patient	M	no	Mexico	-	-	-	-	none	OAS	Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452), hemifacial hypoplasia (HPO:0011332).	EYA1, HOXA2, SALL1, TBX1, TCOF1	SALL1	1	1	Miriam Erandi Reyna-Fabián
00408827	EFAV_144	PubMed: Estandia-Ortega 2022	1 patient	M	no	Mexico	-	-	-	-	none	OAS	Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452), hemifacial hypoplasia (HPO:0011332).	EYA1, HOXA2, SALL1, TBX1, TCOF1	EYA1	1	1	Miriam Erandi Reyna-Fabián
00408828	EFAV_42	PubMed: Estandia-Ortega 2022	31 patients (19 male, 12 female)	M	no	Mexico	-	-	-	-	none	OAS	Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452), hemifacial hypoplasia (HPO:0011332).	EYA1, HOXA2, SALL1, TBX1, TCOF1	TBX1	1	1	Miriam Erandi Reyna-Fabián
00408832	EFAV_93	PubMed: Estandia-Ortega 2022	1 patient	M	no	Mexico	-	-	-	-	none	OAS	Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), sensorineural hearing impairment (HPO:0000407), ossicular chain abnormality (HPO:004452).	EYA1, HOXA2, SALL1, TBX1, TCOF1	TBX1	1	1	Miriam Erandi Reyna-Fabián
00408988	EFAV_132	PubMed: Estandia-Ortega 2022	1 patient	M	-	Mexico	-	-	-	-	none	OAS	Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452).	EYA1, HOXA2, SALL1, TBX1, TCOF1	TCOF1	1	1	Miriam Erandi Reyna-Fabián
00408989	EFAV_102	PubMed: Estandia-Ortega 2022	41 patients (26 male, 15 female)	F	likely	Mexico	-	-	-	-	none	OAS	Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), conductive hearing impairment (HPO:0000405), sensorineural hearing impairment (HPO:0000407), renal hypoplasia (HPO:0008678)	EYA1, HOXA2, SALL1, TBX1, TCOF1	SALL1	1	1	Miriam Erandi Reyna-Fabián

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Global Variome shared LOVD

SPTB (spectrin, beta, erythrocytic)