Disease #01723 (ACCPN (agenesis, corpus callosum, with peripheral neuropathy (ACCPN, Andermann syndrome)), OMIM:218000)

Official abbreviation	ACCPN
Name	agenesis, corpus callosum, with peripheral neuropathy (ACCPN, Andermann syndrome)
OMIM ID	218000
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	20
Phenotype entries for this disease	19
Associated with 1 gene	SLC12A6
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

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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.

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Operator	Column type	Example	Matches
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space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
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^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
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=""	Text	=""	all entries with this field empty
=""	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
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Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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20 entries on 1 page. Showing entries 1 - 20.

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
00037087	-	-	-	-	-	Germany	-	-	-	-	-	ACCPN	Andermann syndrome, arthrogryposis	SLC12A6	SLC12A6	1	1	Andreas Laner
00037091	-	-	-	-	-	Germany	-	-	-	-	-	ACCPN	Andermann syndrome	SLC12A6	SLC12A6	1	1	Andreas Laner
00037093	-	-	-	-	-	Germany	-	-	-	-	-	ACCPN	Andermann syndrome, arthrogryposis	SLC12A6	SLC12A6	1	1	Andreas Laner
00037095	-	-	-	-	-	Germany	-	-	-	-	-	ACCPN	Andermann syndrome, arthrogryposis	SLC12A6	SLC12A6	1	1	Andreas Laner
00050080	-	PubMed: Uyanik 2006, Journal: Uyanik 2006	2-generation family, 1 affected, unaffected heterozygous carrier parents (2nd degree)	M	yes	Turkey	-	>10y06m	-	-	-	ACCPN	see paper; Andermann syndrome; hypotonia, areflexia lower extremities, reduced deep tendon reflexes iupper extremities with normal tonus, delayed motor milestones; MRI complete agenesis corpus callosum, disseminated white matter hyperintensities	SLC12A6	SLC12A6	1	1	Johan den Dunnen
00050081	-	PubMed: Uyanik 2006, Journal: Uyanik 2006	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	Turkey	-	>05y	-	-	-	ACCPN	see paper; Andermann syndrome; hypotonia, areflexia upper/lower extremities, delayed motor milestones mental retardation, afebrile seizures, dysmorphic features; MRI complete agenesis corpus callosum, batwing appearance frontal horns, enlargement cisterna magna	SLC12A6	SLC12A6	1	1	Johan den Dunnen
00050083	-	PubMed: Howard 2002, Journal: Howard 2002	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	Canada	French Canadian	-	-	-	-	ACCPN	-	SLC12A6	SLC12A6	2	1	Johan den Dunnen
00050084	-	PubMed: Rudnik-Schoneborn 2009, Journal: Rudnik-Schoneborn 2009	2-generation family, 2 affecteds (sister/brother), unaffected heterozygous carrier parents	-	no	Germany	-	-	-	-	-	ACCPN	see paper; mild Andermann syndrome, ...	SLC12A6	SLC12A6	2	2	Johan den Dunnen
00050085	-	PubMed: Howard 2002, Journal: Howard 2002	2-generation family, 2 affected sibs, unaffected heterozygous carrier parents	-	-	Italy	-	-	-	-	-	ACCPN	-	SLC12A6	SLC12A6	1	2	Johan den Dunnen
00050086	-	PubMed: Uyanik 2006, Journal: Uyanik 2006	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	Germany	-	>03y06m	-	-	-	ACCPN	see paper; feeding difficulties, hypotonia, areflexia upper/lower extremities, delayed motor milestones, mental retardation, seizures, mild dysmorphic feature complete; MRI agenesis of the corpus callosum, enlargement lateral ventricles, deformation gyrus cinguli	SLC12A6	SLC12A6	2	1	Johan den Dunnen
00050087	-	PubMed: Howard 2002, Journal: Howard 2002	80 cases from several families, all parents unaffected heterozygous carriers	-	-	Canada	French Canadian	-	-	-	-	ACCPN	-	SLC12A6	SLC12A6	1	80	Johan den Dunnen
00050088	-	PubMed: Salin-Cantegrel 2007, Journal: Salin-Cantegrel 2007	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	yes	Sudan	-	-	-	-	-	ACCPN	motor and sensory neuropathy and corpus callosum agenesis	SLC12A6	SLC12A6	1	2	Johan den Dunnen
00050089	-	PubMed: Howard 2002, Journal: Howard 2002, PubMed: Salin-Cantegrel 2007, Journal: Salin-Cantegrel 2007	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	yes	Turkey	-	-	-	-	-	ACCPN	-	SLC12A6	SLC12A6	1	2	Johan den Dunnen
00050090	-	PubMed: Salin-Cantegrel 2011, Journal: Salin-Cantegrel 2011	2-generation family, 2 affecteds (brother/sister), unaffected heterozygous carrier parents	-	-	Algeria	-	-	-	-	-	ACCPN	motor and sensory neuropathy and corpus callosum agenesis	SLC12A6	SLC12A6	1	2	Johan den Dunnen
00050092	-	PubMed: Salin-Cantegrel 2007, Journal: Salin-Cantegrel 2007	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	-	South Africa	-	-	-	-	-	ACCPN	motor and sensory neuropathy and corpus callosum agenesis	SLC12A6	SLC12A6	1	2	Johan den Dunnen
00050093	-	PubMed: Salin-Cantegrel 2007, Journal: Salin-Cantegrel 2007	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	-	-	South Africa	-	-	-	-	-	ACCPN	motor and sensory neuropathy and corpus callosum agenesis	SLC12A6	SLC12A6	1	2	Johan den Dunnen
00050094	-	PubMed: Salin-Cantegrel 2007, Journal: Salin-Cantegrel 2007	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	Netherlands	-	-	-	-	-	ACCPN	motor and sensory neuropathy and corpus callosum agenesis	SLC12A6	SLC12A6	1	1	Johan den Dunnen
00050095	-	PubMed: Salin-Cantegrel 2007, Journal: Salin-Cantegrel 2007	2-generation family, 1 affected, unaffected heterozygous carrier parents (2nd degree cousin)	M	yes	Turkey	-	-	-	-	-	ACCPN	motor and sensory neuropathy and corpus callosum agenesis	SLC12A6	SLC12A6	1	1	Johan den Dunnen
00050096	-	PubMed: Salin-Cantegrel 2011, Journal: Salin-Cantegrel 2011	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	Turkey	-	-	-	-	-	ACCPN	motor and sensory neuropathy and corpus callosum agenesis	SLC12A6	SLC12A6	1	1	Johan den Dunnen
00464359	-	-	-	-	-	-	-	-	-	-	-	ACCPN	-	SLC12A6	SLC12A6	2	1	Min Peng

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Global Variome shared LOVD

KPTN (kaptin (actin binding protein))