Disease #00224 (PHP1C (pseudohypoparathyroidism, type Ic (PHP-1C)), OMIM:612462)

Official abbreviation	PHP1C
Name	pseudohypoparathyroidism, type Ic (PHP-1C)
OMIM ID	612462
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant with paternal imprinting
Individuals reported having this disease	6
Phenotype entries for this disease	6
Associated with 1 gene	GNAS
Associated tissues	-
Disease features	round face, full cheeks, depressed nasal bridge; seizure (HP:0001250)no hypotonia (-HP:0001252); no hypotonia (-HP:0001252); short stature (HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); multiple hormone resistance, subcutaneous calcification
Remarks	-
Date created	2013-10-09 19:12:21 +02:00 (CEST)
Date last edited	2023-01-03 20:48:48 +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
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Algeria
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Angola
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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
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Burundi
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Cambodia
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Cameroon
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Canada
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Cape Verde
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Cayman Islands
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Central African Republic
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Central Europe
Chad
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Chile
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China
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Christmas Island
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Cocos (Keeling Islands)
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Colombia
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Comoros
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Congo
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Cook Islands
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Kenya
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Laos
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Latvia
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Panama
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Peru
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Poland
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Polynesia, French
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Romania
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Russian Federation
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Saint Lucia
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Samoa
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San Marino
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Saudi Arabia
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Singapore
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Spain
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Cunha
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St. Pierre and Miquelon
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Sudan
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Suriname
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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
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Turkmenistan
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Turks and Caicos Islands
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Tuvalu
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Uganda
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Ukraine
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United Arab Emirates
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United Kingdom (Great Britain)
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United States
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Uruguay
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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)
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Virgin Islands (US)
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Wales
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Wallis and Futuna Islands
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Western Sahara
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Yemen
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Yugoslavia
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Zaire
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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
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<=	Date	<=2020-06	all entries in or before June, 2020
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6 entries on 1 page. Showing entries 1 - 6.

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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
00029430	-	-	-	M	?	-	-	-	-	-	-	PHP1C	AHO phenotype	GNAS	-	1	1	Ralf Werner
00029432	-	-	-	F	?	-	-	-	-	-	-	PHP1C	AHO phenotype	GNAS	-	1	1	Ralf Werner
00029433	-	-	-	F	?	-	-	-	-	-	-	PHP1C	AHO phenotype	GNAS	-	1	1	Ralf Werner
00029434	-	-	-	M	?	-	-	-	-	-	-	PHP1C	AHO phenotype	GNAS	-	1	1	Ralf Werner
00029435	-	-	-	F	?	-	-	-	-	-	-	PHP1C	AHO phenotype	GNAS	-	1	1	Ralf Werner
00132024	-	-	-	F	-	France	-	-	-	-	Levothyroxine, alfacalcidol, calcium, GH	PHP1C	pseudohypoparathyroidism (HP:0000852), hypothyroidism (HP:0000821); obesity (HP:0001513); delayed puberty (HP:0000853); growth hormone deficiency (HP:0000824)	GNAS	GNAS	1	1	Nicolas Richard

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