Disease #01160 (ACRDYS1 (acrodysostosis, with/without hormone resistance), OMIM:101800)

Official abbreviation	ACRDYS1
Name	acrodysostosis, with/without hormone resistance
OMIM ID	101800
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	39
Phenotype entries for this disease	33
Associated with 1 gene	PRKAR1A
Associated tissues	-
Disease features	flat anterior facies, mid-face hypoplasia, hypertelorism, small nose, depressed nasal bridge, short columella, long philtrum, prominent chin; no seizure (-HP:0001250); no hypotonia (-HP:0001252); short stature (HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); severe brachydactyly, skeletal dysplasia, multiple hormone resistance
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2023-01-03 20:04:27 +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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\|	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
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>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
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Example	Matches
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39 entries on 1 page. Showing entries 1 - 39.

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
00079987	-	PubMed: Elli 2016	-	M	no	(Italy)	-	-	-	-	-	ACRDYS1	hypospadias	-	-	1	1	Francesca Marta Elli
00079988	-	PubMed: Elli et al.2016	-	F	no	(Bosnia and Herzegovina)	-	-	-	-	-	ACRDYS1	advanced bone age, caeliac disease, glucose intolerance with insulin resistance, severe peripheral dysostosis	-	PRKAR1A	1	1	Francesca Marta Elli
00079989	-	PubMed: Elli et al.2016	-	M	no	(Italy)	-	-	-	-	-	ACRDYS1	IUGR, neonatal hypoglycemia, enamel dysplasia	-	ALG6, PRKAR1A	2	1	Francesca Marta Elli
00079990	-	PubMed: Elli et al.2016	-	M	no	(Italy)	-	-	-	-	-	ACRDYS1	IUGR, neonatal hypoglycemia, gastroesophageal reflux, dysmorphic spines	-	ALG6, PRKAR1A	2	1	Francesca Marta Elli
00080137	-	PubMed: Muhn et al.2013	-	F	?	-	-	-	-	-	-	ACRDYS1	PTH resistance, TSH resistance, short stature, brachydactily, mental retardation, cone-shaped epiphyses, short neck, cafè-au-lait spots	-	ALG6, PRKAR1A	2	1	Francesca Marta Elli
00080149	-	PubMed: Muhn et al.2013	-	F	?	-	-	-	-	-	-	ACRDYS1	short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, sensorineural hearing loss, short neck	-	ALG6, PRKAR1A	2	1	Francesca Marta Elli
00080150	-	PubMed: Muhn et al.2013	-	F	?	-	-	-	-	-	-	ACRDYS1	TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, cone-shaped epiphyses	-	PRKAR1A	1	1	Francesca Marta Elli
00080151	-	PubMed: Muhn et al.2013	-	M	?	-	-	-	-	-	-	ACRDYS1	PTH resistance, short stature, brachydactily, cone-shaped epiphyses, FSH resistance	-	ALPL	2	1	Francesca Marta Elli
00080152	-	PubMed: Nagasaki et al.2012	-	F	no	(Japan)	-	-	-	-	-	ACRDYS1	PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, IUGR, cone-shaped epiphyses	-	ALPL, BSCL2, PRKAR1A	2	1	Francesca Marta Elli
00080154	-	PubMed: Li et al.2014	-	F	no	(China)	-	-	-	-	-	ACRDYS1	PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily	-	PRKAR1A	1	1	Francesca Marta Elli
00080161	-	PubMed: Kaname et al.2014	-	F	?	-	-	-	-	-	-	ACRDYS1	TSH resistance, short stature, dysmorphic facies, brachydactily, mental retardation	-	-	1	1	Francesca Marta Elli
00080162	-	PubMed: Michot et al.2012	-	F	?	-	-	-	-	-	-	ACRDYS1	PTH resistance, short stature, brachydactily, cone-shaped epiphyses	-	-	1	1	Francesca Marta Elli
00080163	-	PubMed: Michot et al.2012	-	M	?	-	-	-	-	-	-	ACRDYS1	PTH resistance, TSH resistance, brachydactily, cone-shaped epiphyses	-	-	1	1	Francesca Marta Elli
00080164	-	PubMed: Michot et al	-	F	?	-	-	-	-	-	-	ACRDYS1	PTH resistance3, Tsh resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses	-	PRKAR1A	1	1	Francesca Marta Elli
00080165	-	PubMed: Michot et al.2012	-	F	?	-	-	-	-	-	-	ACRDYS1	PTH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses	-	AMPD1, PRKAR1A	2	1	Francesca Marta Elli
00080166	-	PubMed: Michot et al.2012	-	F	?	-	-	-	-	-	-	ACRDYS1	PTH resistance, TSH resistance, short stature, brachydactily, IUGR, cone-shaped epiphyses	-	AMPD1, PRKAR1A	2	1	Francesca Marta Elli
00080167	-	PubMed: Lee et al.2012	-	M	?	-	-	-	-	-	-	ACRDYS1	short stature, dysmorphic facies, brachydactily, mental retardation, moderate mixed hearing loss, congenital hypothyroidism, unilateral undescended testis	-	PRKAR1A	1	1	Francesca Marta Elli
00080168	-	PubMed: Lee et al.2012	-	M	?	-	-	-	-	-	-	ACRDYS1	short stature, dysmorphic facies, brachydactily, mental retardation	-	PRKAR1A	1	1	Francesca Marta Elli
00080174	-	PubMed: Linglart et al.2012	-	F	?	-	-	-	-	-	-	ACRDYS1	PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, IUGR, cone-shaped epiphyses, advanced bone age	-	DPYD, PRKAR1A	2	1	Francesca Marta Elli
00080175	-	PubMed: Linglart et al.2012	-	M	?	-	-	-	-	-	-	ACRDYS1	PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, advanced bone age, +1digit	-	PRKAR1A	1	1	Francesca Marta Elli
00080176	-	PubMed: Linglart et al.2012	-	M	?	-	-	-	-	-	-	ACRDYS1	PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily	-	DPYD, PRKAR1A	2	1	Francesca Marta Elli
00080178	-	PubMed: Linglart et al.2012	-	F	?	-	-	-	-	-	-	ACRDYS1	-	-	-	-	1	Francesca Marta Elli
00080179	-	PubMed: Linglart et al.2012	-	F	?	-	-	-	-	-	-	ACRDYS1	PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, FSH resistance	-	DPYD, PRKAR1A	2	1	Francesca Marta Elli
00080180	-	PubMed: Linglart et al.2012	-	M	?	-	-	-	-	-	-	ACRDYS1	PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advaned bone age	-	DPYD, PRKAR1A	2	1	Francesca Marta Elli
00080691	-	PubMed: Linglart et al.2012	-	M	?	-	-	-	-	-	-	ACRDYS1	PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, SGA	-	DPYD, PRKAR1A	2	1	Francesca Marta Elli
00080692	-	PubMed: Linglart et al.2012	-	F	?	-	-	-	-	-	-	ACRDYS1	PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, FSH resistance	-	DPYD, PRKAR1A	2	1	Francesca Marta Elli
00080693	-	PubMed: Linglart et al.2012	-	M	?	-	-	-	-	-	-	ACRDYS1	PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age	-	DPYD, PRKAR1A	2	1	Francesca Marta Elli
00080694	-	PubMed: Linglart et al.2012	-	F	?	-	-	-	-	-	-	ACRDYS1	PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, FSH resistance	-	DPYD, PRKAR1A	2	1	Francesca Marta Elli
00080695	-	PubMed: Linglart et al.2012	-	F	?	-	-	-	-	-	-	ACRDYS1	PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, FSH resistance	-	DPYD	2	1	Francesca Marta Elli
00080696	-	PubMed: Linglart et al.2012	-	F	?	-	-	-	-	-	-	ACRDYS1	PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, advanced bone age, FSH resistance	-	DPYD, PRKAR1A, SAMHD1	2	1	Francesca Marta Elli
00080697	-	PubMed: Linglart et al.2012	-	M	?	-	-	-	-	-	-	ACRDYS1	PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, SGA	-	DPYD, PRKAR1A	2	1	Francesca Marta Elli
00080698	-	PubMed: Linglart et al.2012	-	F	?	-	-	-	-	-	-	ACRDYS1	PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, SGA	-	DPYD, PRKAR1A	2	1	Francesca Marta Elli
00080699	-	PubMed: Linglart et al.2012	-	M	?	-	-	-	-	-	-	ACRDYS1	PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, SGA	-	DPYD, PRKAR1A	2	1	Francesca Marta Elli
00100341	-	NOT PUBLISHED	-	F	-	Spain	-	-	-	-	-	ACRDYS1	-	PRKAR1A	DPYD	2	1	Arrate Pereda
00100342	-	NOT PUBLISHED	-	F	no	Morocco	-	-	-	-	-	ACRDYS1	-	PRKAR1A	DPYD, PRKAR1A, SAMHD1	2	1	Arrate Pereda
00100381	-	NOT PUBLISHED	-	F	-	(France)	-	-	-	-	-	ACRDYS1	-	PRKAR1A	PRKAR1A	1	1	Caroline Silve
00100383	-	NOT PUBLISHED	-	F	-	(France)	-	-	-	-	-	ACRDYS1	-	PRKAR1A	PRKAR1A	1	1	Caroline Silve
00100384	-	NOT PUBLISHED	-	F	-	(France)	-	-	-	-	-	ACRDYS1	-	PRKAR1A	PRKAR1A	1	1	Caroline Silve
00132070	1	-	-	F	no	Brazil	-	>13y	-	-	-	ACRDYS1	-	ADAMTSL2, FBN1, GNAS, PRKAR1A	PRKAR1A	1	1	Karina Silveira

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Global Variome shared LOVD