Disease #01169 (ATS3A (Alport syndrome, type 3A, autosomal dominant), OMIM:104200)

Official abbreviation	ATS3A
Name	Alport syndrome, type 3A, autosomal dominant
OMIM ID	104200
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	49
Phenotype entries for this disease	53
Associated with 1 gene	COL4A3
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2024-02-15 12:42:26 +01:00 (CET)

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:

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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space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
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!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
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
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

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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49 entries on 1 page. Showing entries 1 - 49.

Legend

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
00091302	-	PubMed: Longo 2002	-	M	-	Italy	-	-	-	-	-	ATS3A	Micro-haematuria, proteinuria.; no hearing loss; no ocular phenotype;	COL4A3	COL4A3	1	1	Judy Savige
00091348	-	PubMed: Van der Loop (2000) Kidney Int 58, 1870	-	-	-	United Kingdom (Great Britain)	Irish	-	-	-	-	ATS3A	Micro-haematuria, proteinuria; 35y renal failure; hearing loss; renal failure;	COL4A3	COL4A3	1	1	Judy Savige
00091396	-	PubMed: Pescucci 2004	-	M	-	Italy	-	-	-	-	-	ATS3A	Micro-haematuria, proteinuria. CRF.; hearing loss; glomerulus abnormal;	COL4A3	COL4A3	1	1	Judy Savige
00091410	-	PubMed: Longo 2002	-	F	-	Italy	-	-	-	-	-	ATS3A	Micro-haematuria, proteinuria, normal renal function; glomerulus abnormal	COL4A3	COL4A3	1	1	Judy Savige
00091416	-	PubMed: Pescucci 2004	-	M	-	Italy	-	-	-	-	-	ATS3A	45y renal failure; no hearing loss; no ocular phenotype; renal failure; glomerulus abnormal	COL4A3	COL4A3	1	1	Judy Savige
00091917	-	PubMed: Marcocci 2009	-	F	-	-	-	-	-	-	-	ATS3A	Micro-haehoturia/Proteinuria. ; glomerulus abnormal	COL4A4	COL4A4	1	1	Judy Savige
00091918	-	PubMed: Marcocci 2009	-	M	-	-	-	-	-	-	-	ATS3A	Micro-haehoturia/Proteinuria. ; glomerulus abnormal	COL4A4	COL4A4	1	1	Judy Savige
00091920	-	PubMed: Marcocci 2009	-	F	-	-	-	-	-	-	-	ATS3A	micro-haematuria	COL4A4	COL4A4	1	1	Judy Savige
00091921	-	PubMed: Marcocci 2009	-	F	-	-	-	-	-	-	-	ATS3A	Micro-haematuria ,proteinuria renal failure. ; renal failure	COL4A4	COL4A4	1	1	Judy Savige
00091924	-	PubMed: Longo 2002	-	M	-	Italy	-	-	-	-	-	ATS3A	Micro-haematuria proteinuria, non-progressive CRF; glomerulus abnormal	COL4A4	COL4A4	18	1	Judy Savige
00091928	-	PubMed: Pescucci 2004	-	M	-	-	-	-	-	-	-	ATS3A	Micro-haematuria, macro-haematuria, bilateral hypoacusis, normal renal function. ; hearing loss; glomerulus abnormal	COL4A4	COL4A4	1	1	Judy Savige
00091932	-	PubMed: Marcocci 2009	-	M	-	-	-	-	-	-	-	ATS3A	Micro-haematuria, proteinuria. ; 60y renal failure; renal failure	COL4A4	COL4A4	1	1	Judy Savige
00091933	-	PubMed: Marcocci 2009	-	M	-	-	-	-	-	-	-	ATS3A	Micro-haematuria, proteinuria.; glomerulus abnormal	COL4A4	COL4A4	1	1	Judy Savige
00091938	-	PubMed: Pescucci 2004	Family history of renal impairment.	F	-	-	-	-	-	-	-	ATS3A	Micro-haematuria. ; no hearing loss; no ocular phenotype; glomerulus abnormal	COL4A4	COL4A4	1	1	Judy Savige
00091939	-	PubMed: Ciccarese 2001	-	F	-	Italy	Sardinian	-	-	-	-	ATS3A	Micro-haematuria. (family has hyperchol-esterolemia); 29y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal	COL4A4	COL4A4	2	1	Judy Savige
00091940	-	PubMed: Marcocci 2009	-	F	-	-	-	-	-	-	-	ATS3A	Micro/Macro-haematuria, proteinuria. ; glomerulus abnormal	COL4A4	COL4A4	1	1	Judy Savige
00091942	-	PubMed: Marcocci 2009	-	M	-	-	-	-	-	-	-	ATS3A	Microhaematuria, proteinuria. ; 45y renal failure; ocular changes; renal failure, lomerulus abnormal	COL4A4	COL4A4	1	1	Judy Savige
00091943	-	PubMed: Marcocci 2009	-	F	-	-	-	-	-	-	-	ATS3A	Microhaematuria, proteinuria. ; 60y renal failure; renal failure	COL4A4	COL4A4	1	1	Judy Savige
00091968	-	PubMed: Marcocci 2009	-	-	-	-	-	-	-	-	-	ATS3A	-	COL4A4	COL4A4	1	1	Judy Savige
00091975	-	PubMed: Marcocci 2009	-	-	-	-	-	-	-	-	-	ATS3A	-	COL4A4	COL4A4	1	5	Judy Savige
00091983	-	PubMed: Marcocci 2009	-	-	-	-	-	-	-	-	-	ATS3A	-	COL4A4	COL4A4	1	1	Judy Savige
00091991	-	PubMed: Marcocci 2009	-	-	-	-	-	-	-	-	-	ATS3A	-	COL4A4	COL4A4	1	3	Judy Savige
00092003	-	PubMed: Marcocci 2009	-	-	-	-	-	-	-	-	-	ATS3A	-	COL4A4	COL4A4	1	6	Judy Savige
00092009	-	PubMed: Marcocci 2009	-	-	-	-	-	-	-	-	-	ATS3A	-	COL4A4	COL4A4	1	8	Judy Savige
00092012	-	PubMed: Marcocci 2009	-	-	-	-	-	-	-	-	-	ATS3A	-	COL4A4	COL4A4	1	8	Judy Savige
00092014	-	PubMed: Marcocci 2009	-	-	-	-	-	-	-	-	-	ATS3A	-	COL4A4	COL4A4	1	8	Judy Savige
00092016	-	PubMed: Marcocci 2009	-	-	-	-	-	-	-	-	-	ATS3A	-	COL4A4	COL4A4	1	8	Judy Savige
00092020	-	PubMed: Marcocci 2009	-	-	-	-	-	-	-	-	-	ATS3A	-	COL4A4	COL4A4	1	8	Judy Savige
00092027	-	PubMed: Marcocci 2009	-	-	-	-	-	-	-	-	-	ATS3A	-	COL4A4	COL4A4	1	8	Judy Savige
00092037	-	PubMed: Marcocci 2009	-	-	-	-	-	-	-	-	-	ATS3A	-	COL4A4	COL4A4	1	8	Judy Savige
00153698	-	PubMed: Rosado 2015, Journal: Rosado 2015	Hematuria at age of 2, proteinuria and CKD at 32, hearing loss at 46. Son had hematuria and proteinuria at 6, and hearing loss and anterior lenticonus at 9, CKD at 19	F	-	Spain	Spanish	-	-	-	-	ATS3A	hearing loss (HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)	COL4A3	COL4A3	1	1	Judy Savige
00153790	-	PubMed: Imafuku 2017, Journal: Imafuku 2017	Hematuria and proteinuria at 6	M	-	Japan	-	-	-	-	-	ATS3A	GBM pathology thinning, splitting, lamellation; 42y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093)	COL4A3	COL4A3	1	1	Judy Savige
00153826	-	PubMed: Rosado 2015, Journal: Rosado 2015	-	F	-	Spain	white	-	-	-	-	ATS3A	41y-hearing loss (HP:0000365); ocular changes; 31y-renal failure (HP:0000083), 42y-retinopathy; hematuria (HP:0000790); proteinuria (HP:0000093)	COL4A3	COL4A3	1	1	Judy Savige
00153845	-	PubMed: Moriniere 2014, Journal: Moriniere 2014	-	-	-	France	-	-	-	-	-	ATS3A	hematuria (HP:0000790)	COL4A4	COL4A3, COL4A4	1	1	Judy Savige
00153847	-	PubMed: Rosado 2014	Haematuria at age 30, proteinuria at 40. Her father diagnosed with ESRF at 75, with high tone hearing loss at 79	M	-	Spain	-	-	-	-	-	ATS3A	no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)	COL4A4	COL4A4	1	1	Judy Savige
00153866	-	PubMed: Imafuku 2017, Journal: Imafuku 2017	Haematuria at 31, proteinuria at 31. Another affected female aged 30, haematuria at 12, proteinuria at 29, no ESRD	M	-	Japan	-	-	-	-	-	ATS3A	GBM pathology thinning, lamellation; 58y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093)	COL4A4	COL4A4	1	1	Judy Savige
00153944	-	PubMed: Deng 2016, Journal: Deng 2016	most consistent with AD inheritance. This family had a milder phenotype than in Alport syndrome. Ten patients (II:1, II:3, II:5, II:7, III:7, III:9, III:10, III:12, III:14 and III:15) with this mutation had adult onset Alport syndrome . Two (II:5 and II:7) of the 10 patients progressed to ESRD at 60 and 56 yr of age. There were two currently asymptomatic male members (IV:4 and IV:5) with the heterozygous p.Gly1072Glufs*69 mutation, aged 11 and eight years old. The main clinical manifestation was haematuria, present in all patients. Proteinuria was present in four of 10 patients, and chronic kidney disease in two	M	-	China	Chinese	-	-	-	-	ATS3A	no hearing loss (-HP:0000365); no ocular changes; GBM pathology Irregularly thickened and splitting; hematuria (HP:0000790); no proteinuria (-HP:0000093)	COL4A4	COL4A4	1	1	Judy Savige
00153945	-	PubMed: Deng 2016, Journal: Deng 2016	10 patients with this mutation had adult onset Alport syndrome. Two of the 10 progressed to ESRD at 60 and 56 yr of age. There were two currently asymptomatic male members (IV:4 and IV:5) with the heterozygous p.Gly1072Glufs*69 mutation aged 11 and 8. None of the 12 had a hearing loss or maculopathy.	M	-	China	Chinese	-	-	-	-	ATS3A	no hearing loss (-HP:0000365); no ocular changes; GBM pathology Irregularly thickened and splitting; hematuria (HP:0000790); no proteinuria (-HP:0000093)	COL4A4	COL4A4	1	1	Judy Savige
00153963	-	PubMed: Guo 2017, Journal: Guo 201	Proband's 45-year-old uncle and 26-year-old sister have glomerular haematuriaand proteinuria, with renal impairment. They also had a mild sensorineural hearing loss. The father had undergone dialysis since the age of 60 and died of kidney failure at 62	M	-	China	Chinese	-	-	-	-	ATS3A	hearing loss (HP:0000365); GBM pathology Irregular thickening, thinning and splitting; hematuria (HP:0000790); proteinuria (HP:0000093)	COL4A4	COL4A4	2	1	Judy Savige
00153967	-	PubMed: Rosado 2014	Hearing loss at age of 6, haematuria and proteinuria at 28, macular flecks at 48. Her mother and brother had CKD	F	-	Spain	-	-	-	-	-	ATS3A	hearing loss (HP:0000365); ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)	COL4A4	COL4A4	1	1	Judy Savige
00402991	13330344	-	-	F	-	-	-	-	-	-	-	ATS3A	-	-	COL4A3	1	1	Jasmina Comic
00402992	12200453	-	-	F	-	-	-	-	-	-	-	ATS3A	-	-	COL4A3	1	1	Jasmina Comic
00402994	10480239	-	-	M	-	-	-	-	-	-	-	ATS3A	-	-	COL4A3	1	1	Jasmina Comic
00402996	12010178	-	-	F	-	-	-	-	-	-	-	ATS3A	HP:0000006	-	COL4A4	1	1	Jasmina Comic
00402997	11060199	-	-	M	-	-	-	-	-	-	-	ATS3A	HP:0000006	-	COL4A4	1	1	Jasmina Comic
00402998	12290513	-	-	M	-	-	-	-	-	-	-	ATS3A	HP:0000006	-	COL4A4	1	1	Jasmina Comic
00402999	11050418	-	-	F	-	-	-	-	-	-	-	ATS3A	HP:0000006	-	COL4A4	1	1	Jasmina Comic
00403012	10170136	-	-	M	-	-	-	-	-	-	-	ATS3A	HP:0000006	-	COL4A4	1	1	Jasmina Comic
00435127	-	-	-	F	no	Algeria	-	-	-	-	-	ATS3A	-	COL4A4	COL4A4	1	2	Thomas Robert

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Global Variome shared LOVD

HDAC9 (histone deacetylase 9)