Disease #03565 (MSLHP (hypertrophy, muscle (MSLHP)), OMIM:614160)

Official abbreviation	MSLHP
Name	hypertrophy, muscle (MSLHP)
OMIM ID	614160
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	-
Individuals reported having this disease	9
Phenotype entries for this disease	9
Associated with 1 gene	MSTN
Associated tissues	-
Disease features	-
Remarks	-

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
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Andorra
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Angola
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Anguilla
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Belarus
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Belgium
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Belize
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Benin
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Bermuda
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Bhutan
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Botswana
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Bouvet Island
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Brazil
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British Indian Ocean Territory
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Brunei Darussalam
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Bulgaria
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Burkina Faso
(Burkina Faso)
Burundi
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Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
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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
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Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
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Cyprus
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Czech Republic
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Denmark
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Dominica
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Ethiopia
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Fiji
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Finland
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France
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Gabon
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Gambia
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Georgia
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Germany
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Ghana
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Gibraltar
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Greece
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Grenada
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Guam
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Guatemala
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Guiana, French
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Guinea
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Guyana
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Italy
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Japan
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Jordan
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Kazakhstan
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Kenya
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Kiribati
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Korea
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Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
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Kuwait
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Kyrgyzstan (Kyrgyz Republic)
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Laos
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Latvia
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Lesotho
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Liberia
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Libya
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Liechtenstein
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Lithuania
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Luxembourg
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Macau
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Macedonia
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Madagascar
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Malawi
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Malaysia
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Maldives
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Mali
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Malta
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Mayotte
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Neutral Zone (Saudia Arabia/Iraq)
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New Zealand
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Oman
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Panama
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Paraguay
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Peru
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Poland
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Polynesia, French
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Portugal
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Puerto Rico
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Qatar
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Reunion
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Romania
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Russia
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Russian Federation
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Rwanda
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S. Georgia and S. Sandwich Isls.
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Saint Kitts and Nevis
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Saint Lucia
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Saint Vincent and The Grenadines
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Samoa
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San Marino
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Sao Tome and Principe
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Saudi Arabia
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Scotland
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Senegal
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Serbia
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Seychelles
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Sierra Leone
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Singapore
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Slovakia (Slovak Republic)
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Slovenia
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Solomon Islands
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Southern Territories, French
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Soviet Union (former)
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Spain
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Sri Lanka
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St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
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Sudan
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Sudan, South
(Sudan, South)
Suriname
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Svalbard and Jan Mayen Islands
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Swaziland
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Sweden
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Switzerland
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Syria
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Taiwan
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Tajikistan
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Tanzania
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Thailand
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Togo
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Tokelau
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Tonga
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Trinidad and Tobago
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Tunisia
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Turkey
(Turkey)
Turkmenistan
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Turks and Caicos Islands
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Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
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Uruguay
(Uruguay)
US Minor Outlying Islands
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Uzbekistan
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Vanuatu
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Vatican City State (Holy See)
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Venezuela
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Viet Nam
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Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
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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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Example	Matches
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9 entries on 1 page. Showing entries 1 - 9.

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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
00210084	15215484.III5	PubMed: Schuelke 2004	mother of 15215484.IV2, 5 unusually strong relatives 4-generation family	F	-	Germany	-	>24y	-	-	-	MSLHP	unusual strength, normal heart	MSTN	MSTN	1	6	Johan den Dunnen
00210085	15215484.IV2	PubMed: Schuelke 2004	son of 15215484.III3	M	-	Germany	-	>4y6m	-	-	-	MSLHP	stimulus-induced myoclonus hours after birth, extraordinarily muscular, normal heart	MSTN	MSTN	2	1	Johan den Dunnen
00210117	-	PubMed: Clop 2006	Texel sheep, Belgian strain	-	-	-	-	-	-	-	-	MSLHP	-	MSTN	MSTN	1	1	Johan den Dunnen
00210118	-	PubMed: McPherron 1997	mouse KO	-	-	-	-	-	-	-	-	MSLHP	significantly larger, large widespread increase skeletal muscle mass (muscle cell hyperplasia and hypertrophy)	MSTN	MSTN	1	1	Johan den Dunnen
00210119	-	PubMed: Grobet 1997	bovine, Belgian blue (BBCB)	-	-	-	-	-	-	-	-	MSLHP	double muscled, 20% increased muscle mass (skeletal muscle hyperplasia)	MSTN	MSTN	1	1	Johan den Dunnen
00210120	-	PubMed: Marchitelli 2003	bovine (Marchigiana breed, Italy)	-	-	-	-	-	-	-	-	MSLHP	double muscled	MSTN	MSTN	1	1	Johan den Dunnen
00210121	-	PubMed: Mosher 2007	dog (whippet breed)	-	-	-	-	-	-	-	-	MSLHP	double muscled	MSTN	MSTN	1	1	Johan den Dunnen
00210122	-	PubMed: Mosher 2007	dog (whippet breed)	-	-	-	-	-	-	-	-	MSLHP	more muscle, significantly faster	MSTN	MSTN	1	1	Johan den Dunnen
00210123	-	PubMed: Szabo 1998	mouse strain Cmpt	-	-	-	-	-	-	-	-	MSLHP	high carcass protein content	MSTN	MSTN	1	1	Johan den Dunnen

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