Disease #00499 (SMA1 (atrophy, muscular, spinal, type 1 (SMA-1, Werdnig-Hoffman disease, severe infantile acute)), OMIM:253300)

Official abbreviation	SMA1
Name	atrophy, muscular, spinal, type 1 (SMA-1, Werdnig-Hoffman disease, severe infantile acute)
OMIM ID	253300
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	34
Phenotype entries for this disease	33
Associated with 1 gene	SMN1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-08-14 20:55:29 +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.

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'
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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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!=""	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
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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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34 entries on 1 page. Showing entries 1 - 34.

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
00116713	-	PubMed: Parsons 1998	-	-	-	United States	-	-	-	-	-	SMA1	-	SMN1	SMN1	2	1	Johan den Dunnen
00116717	-	PubMed: Lefebvre 1995	-	-	-	France	-	-	-	-	-	SMA1	-	SMN1	SMN1	2	1	Johan den Dunnen
00116719	-	PubMed: Sossi 2001	-	F	-	Italy	-	-	-	-	-	SMA1	-	SMN1	SMN1	2	1	Johan den Dunnen
00116722	-	PubMed: Bussaglia 1995, PubMed: Cusco 2003	-	-	-	Spain	-	-	-	-	-	SMA1	-	SMN1	SMN1	2	1	Johan den Dunnen
00116731	-	PubMed: Cusco 2004	-	-	-	Spain	-	-	-	-	-	SMA1	-	SMN1	SMN1	2	1	Johan den Dunnen
00116732	-	PubMed: Cusco 2004	-	-	-	Spain	-	-	-	-	-	SMA1	-	SMN1	SMN1	2	1	Johan den Dunnen
00116742	-	Clermont 1997, PubMed: Wirth 2000	-	-	-	-	-	-	-	-	-	SMA1	-	SMN1	SMN1	2	1	Johan den Dunnen
00116743	-	PubMed: Brahe 1996	-	-	-	-	-	-	-	-	-	SMA1	-	SMN1	SMN1	2	1	Johan den Dunnen
00116747	-	Clermont 1997, PubMed: Wirth 2000	-	-	-	-	-	-	-	-	-	SMA1	-	SMN1	SMN1	2	1	Johan den Dunnen
00116748	-	PubMed: Wirth 1999	2 unrelated cases	-	-	-	-	-	-	-	-	SMA1	-	SMN1	SMN1	2	2	Johan den Dunnen
00116758	-	PubMed: Martin 2002	-	-	-	-	-	-	-	-	-	SMA1	-	SMN1	SMN1	2	1	Johan den Dunnen
00116759	-	PubMed: Lefebvre 1995, PubMed: Wirth 2000	-	-	-	-	-	-	-	-	-	SMA1	-	SMN1	SMN1	2	1	Johan den Dunnen
00116761	-	PubMed: Talbot 1997	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	SMA1	-	SMN1	SMN1	2	1	Johan den Dunnen
00116762	-	PubMed: Wirth 1999	-	-	-	-	-	-	-	-	-	SMA1	-	SMN1	SMN1	2	1	Johan den Dunnen
00116764	-	PubMed: Bai 2014	-	M	-	China	-	-	-	-	-	SMA1	EMG nerve damage	SMN1	SMN1	2	1	Johan den Dunnen
00116766	-	PubMed: Bai 2014	-	F	-	China	-	-	-	-	-	SMA1	EMG nerve damage	SMN1	SMN1	2	1	Johan den Dunnen
00116768	-	PubMed: Bai 2014	-	F	-	China	-	-	-	-	-	SMA1	EMG nerve damage	SMN1	SMN1	2	1	Johan den Dunnen
00116771	-	PubMed: Bai 2014	-	M	-	China	-	-	-	-	-	SMA1	EMG nerve damage	SMN1	SMN1	2	1	Johan den Dunnen
00116773	-	PubMed: Kotani 2007, PubMed: Yamamoto 2013	-	F	-	Japan	-	-	-	-	-	SMA1	-	SMN1	SMN1	2	1	Hisahide Nishio
00116774	-	PubMed: Kotani 2007, PubMed: Yamamoto 2013	-	M	-	Japan	-	-	-	-	-	SMA1	-	SMN1	SMN1	2	1	Hisahide Nishio
00116775	-	PubMed: Yamamoto 2013	-	M	-	Japan	-	>19y	-	-	-	SMA1	referred for respiratory insufficiency and difficulties swallowing	SMN1	SMN1	2	1	Hisahide Nishio
00116781	-	-	The proband has a heterozygous deletion of SMN1 inherited from his father. His single copy of SMN1 contains an inserted Alu element of the Yb8 family, inherited from his mother.	M	no	United Arab Emirates	-	-	-	-	-	SMA1	microcephaly, lagophthalmos, exposure keratopathy, optic disc pallor, cerebral atrophy, small optic nerves, progressive cerebral volume loss	SMN1	SMN1	1	2	Kathleen Vinette
00116782	-	-	-	F	-	China	chinese	<4m	-	-	-	SMA1	-	SMN1	SMN1	1	1	Fang Song
00116783	-	-	-	F	-	Portugal	-	-	-	-	-	SMA1	-	SMN1	SMN1	2	1	Rosário dos Santos
00116784	-	-	-	M	no	China	chinese	-	-	-	-	SMA1	-	SMN1	SMN1	1	1	Fang Song
00116786	-	-	-	M	-	China	chinese	-	-	-	-	SMA1	-	SMN1	SMN1	1	1	Fang Song
00116790	-	-	-	F	no	(China)	-	-	-	-	-	SMA1	-	SMN1	SMN1	1	1	Fang Song
00116791	-	-	-	M	no	(China)	-	20d	-	-	-	SMA1	-	SMN1	SMN1	1	1	Fang Song
00150116	-	-	-	M	-	-	-	-	-	-	-	SMA1	-	SMN1	SMN1	1	1	Laura Alías
00168061	-	-	-	F	no	Greece	white	00y13m	-	-	-	cancer, lung, SMA1	-	SMN1	SMN1	1	1	Kyriaki Kekou
00275685	WH1049	-	-	M	no	Serbia	Serbian	-	-	-	-	SMA1	-	SMN1	SMN1	1	1	Miloš Brkušanin
00305907	23	-	-	F	-	China	-	-	-	-	-	SMA1	-	SMN1	SMN1	1	1	Sha Hong
00306199	97	-	-	M	-	China	-	-	-	-	-	SMA1	-	SMN1	-	-	1	Sha Hong
00417844	206520	-	-	F	no	Italy	-	-	-	-	-	SMA1	Generalized hypotonia, Respiratory insufficiency, Increased variability in muscle fiber diameter, Abnormal muscle fiber protein expression	SMN1	SMN1	2	1	Andreas Laner

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Global Variome shared LOVD

PROKR2 (prokineticin receptor 2)