Disease #02031 (PHA1B (pseudohypoaldosteronism type 1 autosomal recessive (PHA-1B)), OMIM:264350)

Official abbreviation	PHA1B
Name	pseudohypoaldosteronism type 1 autosomal recessive (PHA-1B)
OMIM ID	264350
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	69
Phenotype entries for this disease	64
Associated with 3 genes	SCNN1A, SCNN1B, SCNN1G
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +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
	Text	Arg	all entries containing 'Arg'
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'
!=""	Text	!=""	all entries with this field not empty
!=""	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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69 entries on 1 page. Showing entries 1 - 69.

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
00225643	-	PubMed: Kerem 1999	-	M	?	-	Northern European	-	-	-	-	PHA1B	Renal salt wasting (HP:0000127), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), high plasma renin activity (HP:0000841), hyperaldosteronism (HP:0000859), recurrent respiratory infections (HP:0002205)	SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	1	Susan Tzotzos
00226102	-	PubMed: Welzel 2013	-	M	yes	Turkey	-	00y11m	-	-	-	PHA1B	Hyperbilirubinemia (HP:0002904), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), high plasma renin activity (HP:0000841), hyperaldosteronism (HP:0000859), recurrent respiratory infections (HP:0002205), atopic dermatitis-like rash (HP:0001047)	SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	1	Susan Tzotzos
00226103	-	PubMed: Chang 1996	-	M	yes	Saudi Arabia	-	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:000859)	SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	1	Susan Tzotzos
00226104	-	PubMed: Chang 1996	-	F	yes	Saudi Arabia	-	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859)	SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	1	Susan Tzotzos
00226105	-	PubMed: Chang 1996	-	F	yes	Saudi Arabia	-	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859)	SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	1	Susan Tzotzos
00226106	-	PubMed: Mora-Lopez 2012	-	F	no	Spain	-	-	-	-	-	PHA1B	Elevated sweat choride (HP:0012236), dehydration (HP:0001944), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), high plasma renin activity (HP:0000841), hyperaldosteronism (HP:0000859)	SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	1	Susan Tzotzos
00226108	-	PubMed: Kala Ahluwalia 2014	-	M	no	United States	-	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), dehydration (HP:0001944), metabolic acidosis (HP:0001942), increased plasma renin activity (HP:0000841), elevated plasma aldosterone (HP:0000859), elevated sweat chloride (HP:0012236)	SCNN1A, SCNN1B, SCNN1G	SCNN1A	2	1	Susan Tzotzos
00226109	-	PubMed: Kerem 1999	-	M	no	-	Hispanic	-	-	-	-	PHA1B	Elevated sweat chloride (HP:0012236), recurrent respiratory infections (HP:0002205)	SCNN1A, SCNN1B, SCNN1G	SCNN1A	2	1	Susan Tzotzos
00226122	-	PubMed: Welzel 2013	-	M	yes	Turkey	-	-	-	-	-	PHA1B	Failure to thrive (HP:0001508), dehydration (HP:0001944), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (0000841)	SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	1	Susan Tzotzos
00226123	-	PubMed: Welzel 2013	-	F	yes	Turkey	-	-	-	-	-	PHA1B	Failure thrive (HP:0001508), dehydration (HP:0001944), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:000841)	SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	1	Susan Tzotzos
00226124	-	PubMed: Ekinci 2013	-	F	yes	Korea, South (Republic)	Turkish	-	-	-	-	PHA1B	Failure to thrive (HP:0001508), dehydration (HP:0001944), hyponatremia (HP:0002902); hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), elevated sweat choride (HP:0012236)	SCNN1A	SCNN1A	1	1	Susan Tzotzos
00226125	-	PubMed: Dirlewanger 2011	-	M	yes	Sri Lanka	-	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), renal salt wasting (HP:0000127)	SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	1	Susan Tzotzos
00226137	-	PubMed: Schaedel 1999	-	M	no	Sweden	-	<00y02m	-	-	-	PHA1B	Dehydration (HP:0001944), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841)	-	SCNN1A	2	2	Susan Tzotzos
00226138	-	PubMed: Schaedel 1999	-	M	no	Sweden	-	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hypokalemia (HP:0002153), renal salt wasting (HP:0000127), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), elevated sweat chloride (HP:0012236), recurrent respiratory infections (HP0002205)	SCNN1A, SCNN1B	SCNN1A	2	2	Susan Tzotzos
00226139	-	PubMed: Welzel 2013	-	M	yes	Sudan	-	-	-	-	-	PHA1B	Dehydration (HP:0001944), metabolic acidosis (HP:0001942), tachycardia (HP:0001649), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841)	SCNN1A	SCNN1A	1	1	Susan Tzotzos
00226143	-	PubMed: Wang (2013)	-	F	?	China	-	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942)	NR3C2, SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	1	Susan Tzotzos
00226145	-	PubMed: Silva (2013)	-	M	no	Portugal	-	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942)	SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	1	Susan Tzotzos
00226146	-	PubMed: Edelheit (2005)	-	M	-	Poland	-	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), renal salt wasting (HP:0000127), metabolic acidosis (HP0001942)	SCNN1A, SCNN1B, SCNN1G	SCNN1A	2	1	Susan Tzotzos
00226147	-	PubMed: Wang (2013)	-	F	?	China	-	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841)	SCNN1A, SCNN1B, SCNN1G	SCNN1A	2	1	Susan Tzotzos
00226148	-	PubMed: Saxena (2002)	-	M	-	Pakistan	-	-	-	-	-	PHA1B	Dehydration (HP:0001944), hyponatremia (HP:0002902), renal salt wasting (HP:0000127), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841)	SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	1	Susan Tzotzos
00226149	-	PubMed: Welzel (2013)	-	F	yes	Turkey	-	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), renal salt wasting (HP:0000127)	SCNN1A	SCNN1A	1	1	Susan Tzotzos
00226150	-	PubMed: Edelheit (2005)	-	F	-	Turkey	-	-	-	-	-	PHA1B	-	SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	1	Susan Tzotzos
00226151	-	PubMed: Welzel (2013)	-	F	yes	Turkey	-	-	-	-	-	PHA1B	-	SCNN1A	SCNN1A	1	1	Susan Tzotzos
00226152	-	PubMed: Schaedel (1999)	-	F	no	Sweden	-	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841)	SCNN1A, SCNN1B	SCNN1A	1	1	Susan Tzotzos
00226153	-	PubMed: Schaedel (1999)	-	M	no	Sweden	-	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841)	SCNN1A, SCNN1B	SCNN1A	2	1	Susan Tzotzos
00226164	-	PubMed: Bonny (2002)	-	F	yes	-	-	-	-	-	-	PHA1B	-	SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	2	Susan Tzotzos
00226165	-	PubMed: Bonny (2002)	-	M	yes	-	-	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), renal salt wasting (HP:0000127), recurrent respiratory infections (HP:0002205) with asthma-like symptoms	SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	2	Susan Tzotzos
00226166	-	PubMed: Welzel (2013)	-	M	yes	Turkey	-	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), renal salt wasting (HP:0000127), elevated sweat chloride (HP:0012236), recurrent pulmonary infections (HP0002205), skin rashes (HP:0001047)	SCNN1A	SCNN1A	1	1	Susan Tzotzos
00226168	-	PubMed: Chang (1996)	-	F	yes	Iran	Iran;Jewish	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), recurrent respiratory infections (HP:0002205)	SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	1	Susan Tzotzos
00226169	-	PubMed: Kerem (1999)	-	M	yes	Iran	Iran;Jewish	-	-	-	-	PHA1B	Elevated sweat chloride (HP:0012236), recurrent respiratory infections (HP0002205), tachypnea (HP:0002789)	SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	2	Susan Tzotzos
00226170	-	PubMed: Kerem (1999)	-	M	yes	Iran	Iran;Jewish	-	-	-	-	PHA1B	Elevated sweat chloride (HP:0012236), high concentrations of Cl- and Na+ in saliva and sweat	SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	2	Susan Tzotzos
00226171	-	PubMed: Saxena (2002)	-	M	yes	India	Indian Muslim	-	-	-	-	PHA1B	Dehydration (HP:0001944), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), renal salt wasting (HP:0000127)	SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	1	Susan Tzotzos
00226172	-	PubMed: Belot (2008)	-	F	yes	-	-	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), dehydration (HP:0001944), recurrent respiratory symptoms (HP:0002205)	SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	1	Susan Tzotzos
00226173	-	PubMed: Turan (2018)	-	M	yes	Turkey	-	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841)	SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	2	Susan Tzotzos
00226174	-	PubMed: Turan (2018)	-	?	yes	Turkey	-	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859)	SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	2	Susan Tzotzos
00226175	-	PubMed: Huppmann (2011)	-	M	yes	Tunisia	-	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hyperkalemia (HP:0002513), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), diarrhea (HP:0002014), recurrent respiratory infections (HP:0002205)	SCNN1A	SCNN1A	1	1	Susan Tzotzos
00226176	-	PubMed: Turan (2018)	-	?	yes	Turkey	-	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859)	SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	1	Susan Tzotzos
00226180	-	PubMed: Riepe (2009)	-	F	yes	Somalia	-	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), renal salt wasting (HP:0000127)	SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	1	Susan Tzotzos
00226183	-	PubMed: Nur (2017)	-	F	-	Pakistan	-	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), elevated sweat chloride (HP:0012236), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), tachycardia (HP:0001649), recurrent respiratory infections (HP:0002205)	SCNN1A	SCNN1A	1	2	Susan Tzotzos
00226184	-	PubMed: Nur (2017)	-	F	-	Pakistan	-	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942)	SCNN1A	SCNN1A	1	2	Susan Tzotzos
00226267	-	PubMed: Chang (1996)	-	M	yes	Israel	Arabic	-	-	-	-	PHA1B	Dehydration (HP:0001944), hypotension (HP:0002615), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), hyperaldosteronism (HP:0000859)	SCNN1A, SCNN1B, SCNN1G	SCNN1B	1	1	Susan Tzotzos
00226272	-	PubMed: Kerem (1999)	-	F	?	Israel	Jewish-Ashkenazi	-	-	-	-	PHA1B	Elevated sweat chloride (HP:0012236), renal salt wasting (HP:0000127), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), hyperreninemia (plasma renin activity > 10 ng/mL/h (HP:0000841), hyperaldosteronism (HP:0000859), recurrent respiratory infections (HP:0002205), tachypnea (HP:0002789)	SCNN1A, SCNN1B, SCNN1G	SCNN1B	2	1	Susan Tzotzos
00226273	-	PubMed: Belot (2008)	-	F	yes	-	-	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), renal salt wasting (HP:0000127), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841)	SCNN1A, SCNN1B, SCNN1G	SCNN1B	1	1	Susan Tzotzos
00226275	-	PubMed: Edelheit (2010)	-	F	?	Israel	Jewish-Ashkenazi	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), hyperaldosteronism (HP:0000859), elevated plasma renin activity (HP:0000841), elevated sweat chloride (HP:0012236), renal salt wasting (HP:0000127), seborrheic dermatitis (HP:0007569)	SCNN1A, SCNN1B, SCNN1G	SCNN1B	2	1	Susan Tzotzos
00226276	-	PubMed: Dogan (2012)	-	M	no	Turkey	-	-	-	-	-	PHA1B	-	SCNN1A, SCNN1B, SCNN1G	SCNN1B	1	1	Susan Tzotzos
00226277	-	PubMed: Nobel (2016)	-	F	?	United States	African	-	-	-	-	PHA1B	Hyperkalemia (HP:0002153), muscle pain (HP:0003326), increased plasma renin activity (HP:0000841), hyperaldosteronism (HP0000859), metabolic acidosis (HP:0001942). Serum Na+, lower normal range; serum K+, upper normal range.	SCNN1A, SCNN1B, SCNN1G	SCNN1B	2	1	Susan Tzotzos
00226278	-	PubMed: Saxena (2002)	-	M	yes	Scotland	-	-	-	-	-	PHA1B	-	SCNN1A, SCNN1B, SCNN1G	SCNN1B	1	1	Susan Tzotzos
00226279	-	PubMed: Edelheit (2005)	-	M	yes	Israel	Arabic	-	-	-	-	PHA1B	Hyperkalemia (HP:0002153), hyponatremia (HP:0002902), metabolic acidosis (HP:0001942), renal salt wasting (HP:0000127), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841). Recurrent episodes of vomiting (HP.0002013), hyperkalemia (HP:0002153), salt wasting (HP:0000127), dehydration (HP:0001944) necessitated frequent hospitalisation.	SCNN1A, SCNN1B, SCNN1G	SCNN1B	1	1	Susan Tzotzos
00226300	-	PubMed: Turan (2018)	-	?	yes	Turkey	-	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841)	SCNN1A, SCNN1B, SCNN1G	SCNN1G	1	1	Susan Tzotzos
00226302	-	PubMed: Belot (2008)	-	F	yes	-	-	-	-	-	-	PHA1B	Hyperkalemia (HP:0002153), hyponatremia (HP:0002902), elevated sweat chloride (HP:0012236), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841)	SCNN1A, SCNN1B, SCNN1G	SCNN1G	1	1	Susan Tzotzos
00226303	-	PubMed: Adachi (2001)	-	M	no	Japan	-	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), recurrent respiratory infections (HP:0002205)	SCNN1A, SCNN1B, SCNN1G	SCNN1G	2	1	Susan Tzotzos
00235345	-	PubMed: Cayir (2019)	-	M	yes	Turkey	-	00y06m	-	-	-	PHA1B	Vomiting (HP:0002013), poor feeding (HP:0008872), weight loss (HP:0001824), skin rash (HP:0001047), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), elevated sweat chloride (HP:0012236), tachycardia (HP:0001649), tachypnea (HP:0002789), metabolic acidosis (HP:0001942), renal salt wasting (HP:0000127), hyperaldosteronism (HP:0000859).	SCNN1A, SCNN1B	SCNN1B	2	1	Susan Tzotzos
00235346	-	PubMed: Cayir (2019)	-	F	yes	Turkey	-	-	-	-	-	PHA1B	Vomiting (HP:0002013), poor feeding (HP:0008872), weight loss (HP:0001824), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), elevated sweat chloride (HP:0012236), tachypnea (HP:0002789), hyperaldosteronism (HP:0000859).	SCNN1A, SCNN1B	SCNN1A	1	1	Susan Tzotzos
00235347	-	PubMed: Cayir (2019)	-	F	yes	Turkey	-	00y02m	-	-	-	PHA1B	Vomiting (HP:0002013), poor feeding (HP:0008872), weight loss (HP:0001824), lethargy (HP:0001254), cardiac arrhythmia (HP:0011675), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), hyperaldosteronism (HP:000859).	SCNN1A, SCNN1B	SCNN1A	1	1	Susan Tzotzos
00263408	-	PubMed: Gopal-Kothandapani (2019)	-	M	yes	United Kingdom (Great Britain)	Asian Pakistani	-	-	-	-	PHA1B	Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), elevated sweat chloride (HP:0012236), skin rash (HP:0001047), hyperaldosteronism (HP:0000859), recurrent pharyngitis (HP:0100776)	NR3C2, SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	1	Susan Tzotzos
00305949	49	-	-	M	-	China	-	-	-	-	-	PHA1B	-	SCNN1G	SCNN1G	2	1	Sha Hong
00306136	71	-	-	F	-	China	-	-	-	-	-	PHA1B	-	SCNN1A	SCNN1A	2	1	Sha Hong
00306137	72	-	-	M	-	China	-	-	-	-	-	PHA1B	-	SCNN1A	SCNN1A	1	1	Sha Hong
00329118	-	PubMed: Gopal-Kothandapani 2019	-	M	yes	United Kingdom (Great Britain)	Asian Pakistani	00y01m	-	-	-	PHA1B	HP:0002013, HP:0001824, HP:0008872, HP:0001944, HP:0002902, HP:0002153, HP:0001942, HP:0002205, HP:0000859	NR3C2, SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	1	Susan Tzotzos
00329119	-	PubMed: Gopal-Kothandapani 2019	-	F	yes	United Kingdom (Great Britain)	Asian Pakistani	-	-	-	-	PHA1B	HP:0002013, HP:0001824, HP:0008872, HP:0001944, HP:0002902, HP:0002153, HP:0001942, HP:0002205, HP:0000859	NR3C2, SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	1	Susan Tzotzos
00329151	-	PubMed: Yin, 2019	-	M	-	China	-	-	-	-	-	PHA1B	Nephropathy, HP:0000112	SCNN1A, SCNN1B, SCNN1G	SCNN1G	1	1	Susan Tzotzos
00332560	-	PubMed: Seyhanli 2020	-	F	yes	Turkey	-	-	-	-	-	PHA1B	HP:0008872, HP:0002902, HP:0001944, HP:0002153, HP:0002615, HP:0001047, HP:0002904, HP:0001262, HP:0001942, HP:0000859, HP:0000841	CYP21A2, SCNN1A, SCNN1B, SCNN1G	SCNN1B	1	1	Susan Tzotzos
00333450	-	PubMed: Gopal-Kothandapani, 2019	-	M	yes	United Kingdom (Great Britain)	White white	02y03m	-	-	-	PHA1B	HP:0002902, HP:0002153, HP:0001942, HP:0002013, HP:0001824, HP:0008872, HP:0001944, HP:0031274, HP:0012236, HP:0000859, HP:0001695	NR3C2, SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	1	Susan Tzotzos
00333487	-	PubMed: Gopal-Kothandapani, 2019	-	M	yes	United Kingdom (Great Britain)	Asian Pakistani	-	-	-	-	PHA1B	HP:0002902, HP:0002153, HP:0001942, HP:0002013; HP:0001824, HP:0008872, HP:0001944, HP:0001695, HP:0000859, HP:0000841	NR3C2, SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	1	Susan Tzotzos
00333488	-	PubMed: Gopal-Kothandapani, 2019	-	M	yes	United Kingdom (Great Britain)	Asian Pakistani	-	-	-	-	PHA1B	HP:0002902, HP0002153, HP:0001942, HP:0002205, HP:0002013, HP:0001824, HP:0008872, HP:0001944, HP:0000859	NR3C2, SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	1	Susan Tzotzos
00333489	-	PubMed: Gopal-Kothandapani, 2019	-	F	yes	United Kingdom (Great Britain)	Asian Pakistani	-	-	-	-	PHA1B	HP:0002902, HP:0002153, HP:0001942, HP:0002013, HP:0001824, HP:0008872, HP:0001944, HP:0001047	NR3C2, SCNN1A, SCNN1B, SCNN1G	SCNN1B	1	1	Susan Tzotzos
00371680	-	PubMed: Huneif, 2021	-	F	yes	Saudi Arabia	-	-	-	-	-	PHA1B	Dehydration, HP:0001944; elevated sweat chloride, HP:0012236; feeding difficulties, HP:0008872; raised plasma renin activity, HP:0000841; hyperaldosteronism, HP:0000859; hyperkalemia, HP:0002153; hyponatremia, HP:0002902; metabolic acidosis, HP:0001942; recurrent respiratory infections, HP:0002205; lethargy, HP:0001254; renal salt wasting, HP:0000127; vomiting, HP:0002013; skin rash, HP:0001047	SCNN1A	SCNN1A	1	1	Susan Tzotzos
00377140	-	PubMed: Serra G, 2021	-	M	yes	Italy	-	-	-	-	-	PHA1B	HP:0000952, HP:0008872, HP:0001254, HP:0001649, HP:0002902, HP:0003113, HP:0002153, HP:0001942, HP:0001944, HP:0000859, HP:0012605, HP:0001047	SCNN1A, SCNN1B, SCNN1G	SCNN1A	1	1	Susan Tzotzos
00377141	Pat1	PubMed: Abdalla 2021	-	M	yes	Sudan	-	-	-	-	-	PHA1B	HP:0001945, HP:0002789, HP:0002902, HP:0002153, HP:0001944, HP:0002205, HP:0030828, HP:0012735, HP:0002013, HP:0002014, HP:0001824, HP:0001047, HP:0001942, HP:0000848, HP:0000859, HP:0012236, HP:0003119	SCNN1A, SCNN1B, SCNN1G	SCNN1B	1	1	Susan Tzotzos

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Global Variome shared LOVD

BUB1B (BUB1 mitotic checkpoint serine/threonine kin...)