Disease #00223 (PHP1A (pseudohypoparathyroidism, type Ia (PHP-1A, Albright hereditary osteodystrophy (AHO))), OMIM:103580)

Official abbreviation	PHP1A
Name	pseudohypoparathyroidism, type Ia (PHP-1A, Albright hereditary osteodystrophy (AHO))
OMIM ID	103580
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant, Isolated Cases (Sporadic)
Individuals reported having this disease	249
Phenotype entries for this disease	333
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 19:11:03 +02:00 (CEST)
Date last edited	2023-01-03 20:49:54 +01:00 (CET)

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

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Gender: gender individual
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rF = raised as female
rM = raised as male

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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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249 entries on 3 pages. Showing entries 1 - 100.

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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
00029366	-	-	2-generation family, affected mother (I.2) and son (II.2)	?	?	United States	-	-	-	-	-	PHP1A	AHO phenotype, testotoxicosis; precocious puberty (HP:0000826);	GNAS	-	1	2	Johan den Dunnen
00029376	-	PubMed: Saphira 1996	-	M	?	(Israel)	-	-	-	-	-	PHP1A	, hypocalcemia; hyperphosphatemia; high PTH; high TSH; GSalpha activity= 50%; intellectual disability (HP:0001249); brachydactyly (HP:000156);	GNAS	-	1	1	Johan den Dunnen
00029419	-	-	mother and daugther	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype	GNAS	-	1	2	Johan den Dunnen
00029420	-	PubMed: Weinstein 1990, PubMed: Kinard 1979	4 sisters	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype	GNAS	-	1	4	Johan den Dunnen
00029423	-	-	-	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype, testotoxicosis; precocious puberty (HP:0000826);	GNAS	-	1	1	Johan den Dunnen
00029424	-	-	-	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype, testotoxicosis; precocious puberty (HP:0000826);	GNAS	-	1	1	Johan den Dunnen
00029427	-	PubMed: Aldred 2000	maternal germ-line mosaicism; loss of function	F	no	Greece	-	-	-	-	1-alpha-hydroxy-D3; calcium supplementation	PHP1A	persistent diarrhoea; pancreatic insufficiency; mild short stature (HP:0003502); dysmorphic face (HP:0001999); obesity (HP:0001513); brachydactyly (HP:000156); hypercalcemia (HP:0003072); high circulating parathyroid hormone (HP:0003165), thyroid-stimulating hormone excess (HP:0002925)	GNAS	-	1	2	Johan den Dunnen
00029431	-	-	-	F	?	-	-	-	-	-	-	PHP1A	AHO phenotype; PHP-1A	GNAS	-	1	1	Ralf Werner
00029436	-	-	-	M	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Nicolas Richard
00029437	-	PubMed: Mantovani 2000	-	F	no	Italy	-	-	-	-	-	PHP1A	PTH resistance, TSH resistance; obesity (HP:0001513); brachydactyly (HP:000156);	GNAS	-	1	1	Francesca Marta Elli
00029438	-	-	-	F	no	Italy	-	-	-	-	-	PHP1A	obesity (HP:0001513); brachydactyly (HP:000156);	GNAS	-	1	2	Francesca Marta Elli
00029439	-	-	-	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype	GNAS	-	1	1	Francesca Marta Elli
00029440	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029441	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029442	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029444	-	-	-	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype	GNAS	-	1	1	Francesca Marta Elli
00029445	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029446	-	PubMed: Mantovani 2000	-	M	no	-	-	-	-	-	-	PHP1A	brachydactyly (HP:000156);	GNAS	-	1	1	Francesca Marta Elli
00029447	-	-	-	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype	GNAS	-	1	1	Francesca Marta Elli
00029448	-	-	-	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype	GNAS	-	1	1	Francesca Marta Elli
00029449	-	-	sister and brother	?	no	Italy	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029450	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029451	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029452	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029453	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029454	-	-	-	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype	GNAS	-	1	1	Francesca Marta Elli
00029455	-	PubMed: De Sanctis 2003	-	M	no	-	-	-	-	-	-	PHP1A	; ectopic ossification (HP:0011986);	GNAS	-	1	1	Francesca Marta Elli
00029456	-	-	-	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype; PHP-1A	GNAS	-	1	1	Francesca Marta Elli
00029457	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029458	-	-	-	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype	GNAS	-	1	1	Francesca Marta Elli
00029459	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029460	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029461	-	-	-	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype	GNAS	-	1	1	Francesca Marta Elli
00029462	-	-	-	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype	GNAS	-	1	1	Francesca Marta Elli
00029463	-	-	-	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype	GNAS	-	1	1	Francesca Marta Elli
00029464	-	-	-	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype	GNAS	-	1	1	Francesca Marta Elli
00029465	-	-	-	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype	GNAS	-	1	1	Francesca Marta Elli
00029466	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029467	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029469	-	-	-	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype	GNAS	-	1	1	Francesca Marta Elli
00029470	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029471	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029472	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029474	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029475	-	-	-	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype	GNAS	-	1	1	Francesca Marta Elli
00029476	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029477	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029478	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029479	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029480	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029481	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029482	-	-	-	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype	GNAS	-	1	1	Francesca Marta Elli
00029483	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029484	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029485	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029486	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029487	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029488	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029489	-	-	-	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype	GNAS	-	1	1	Francesca Marta Elli
00029490	-	-	-	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype	GNAS	-	1	1	Francesca Marta Elli
00029491	-	-	-	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype	GNAS	-	1	1	Francesca Marta Elli
00029493	-	-	-	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype	GNAS	-	1	1	Francesca Marta Elli
00029494	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029495	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029496	-	-	-	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype	GNAS	-	1	1	Francesca Marta Elli
00029498	-	-	-	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype	GNAS	-	1	1	Francesca Marta Elli
00029499	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029500	-	-	-	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype	GNAS	-	1	1	Francesca Marta Elli
00029501	-	-	-	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype	GNAS	-	1	1	Francesca Marta Elli
00029502	-	-	-	?	?	-	-	-	-	-	-	PHP1A	normal stature; no intellectual disability (-HP:0001249); round face (HP:0000311); obesity (HP:0001513); brachydactyly, type E (HP:0005863); ectopic ossification (HP:0011986); hyperphosphatemia (HP:0002905); high circulating parathyroid hormone (HP:0003165), thyroid-stimulating hormone excess (HP:0002925)	GNAS	-	1	1	Francesca Marta Elli
00029504	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029505	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029507	-	-	-	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype	GNAS	-	1	1	Francesca Marta Elli
00029508	-	-	-	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype	GNAS	-	1	1	Francesca Marta Elli
00029509	-	-	-	?	?	-	-	-	-	-	-	PHP1A	AHO phenotype	GNAS	-	1	1	Francesca Marta Elli
00029511	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029512	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029513	-	-	-	?	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	1	Francesca Marta Elli
00029514	-	-	-	F	?	Italy	-	-	-	-	-	PHP1A	short stature (HP:0004322); brachydactyly (HP:000156); ectopic ossification (HP:0011986);	GNAS	-	1	2	Francesca Marta Elli
00029515	-	-	-	M	?	Italy	-	-	-	-	-	PHP1A	short stature (HP:0004322); obesity (HP:0001513); brachydactyly (HP:000156);	GNAS	-	1	2	Francesca Marta Elli
00029516	-	-	-	M	no	Italy	-	-	-	-	-	PHP1A	obesity (HP:0001513); brachydactyly (HP:000156);	GNAS	-	1	3	Francesca Marta Elli
00029517	-	-	-	F	?	Italy	-	-	-	-	-	PHP1A	AHO phenotype; brachydactyly (HP:000156); ectopic ossification (HP:0011986);	GNAS	-	1	3	Francesca Marta Elli
00029518	-	-	-	M	?	Italy	-	-	-	-	-	PHP1A	AHO phenotype, TSH resistance; short stature (HP:0004322); brachydactyly (HP:000156);	GNAS	-	1	2	Francesca Marta Elli
00029519	-	-	-	F	no	Italy	-	-	-	-	-	PHP1A	obesity (HP:0001513); brachydactyly (HP:000156);	GNAS	-	1	2	Francesca Marta Elli
00029520	-	-	-	F	?	Italy	-	-	-	-	-	PHP1A	short stature (HP:0004322); brachydactyly (HP:000156);	GNAS	-	1	2	Francesca Marta Elli
00029521	-	-	-	F	?	Italy	-	-	-	-	-	PHP1A	obesity (HP:0001513); brachydactyly (HP:000156);	GNAS	-	1	15	Francesca Marta Elli
00029522	-	-	-	F	?	Italy	-	-	-	-	-	PHP1A	AHO phenotype; brachydactyly (HP:000156);	GNAS	-	1	16	Francesca Marta Elli
00029523	-	-	-	F	?	Italy	-	-	-	-	-	PHP1A	obesity (HP:0001513); ectopic ossification (HP:0011986);	GNAS	-	1	17	Francesca Marta Elli
00029524	-	-	-	M	?	(Italy)	-	-	-	-	-	PHP1A	-	GNAS	-	1	18	Francesca Marta Elli
00029525	-	-	-	F	?	Italy	-	-	-	-	-	PHP1A	short stature (HP:0004322); obesity (HP:0001513); brachydactyly (HP:000156); ectopic ossification (HP:0011986);	GNAS	-	1	19	Francesca Marta Elli
00029526	-	-	2 sisters	F	no	Israel	-	-	-	-	-	PHP1A	short stature (HP:0004322); obesity (HP:0001513); brachydactyly (HP:000156);	GNAS	-	1	2	Francesca Marta Elli
00029527	-	-	-	F	?	Italy	-	-	-	-	-	PHP1A	short stature (HP:0004322); obesity (HP:0001513); brachydactyly (HP:000156);	GNAS	-	1	2	Francesca Marta Elli
00029528	-	-	-	M	?	Italy	-	-	-	-	-	PHP1A	short stature (HP:0004322); obesity (HP:0001513); brachydactyly (HP:000156);	GNAS	-	1	3	Francesca Marta Elli
00029529	-	-	-	F	?	Italy	-	-	-	-	-	PHP1A	AHO phenotype, TSH resistance; short stature (HP:0004322); brachydactyly (HP:000156); ectopic ossification (HP:0011986);	GNAS	-	1	2	Francesca Marta Elli
00029537	-	PubMed: DeSanctis 2003	-	F	?	-	-	-	-	-	-	PHP1A	-	GNAS	-	1	4	Francesca Marta Elli
00029538	-	PubMed: Elli 2013	-	M	no	-	-	-	-	-	-	PHP1A	round face (HP:0000311); obesity (HP:0001513); brachydactyly (HP:000156);	GNAS	-	1	1	Francesca Marta Elli
00029539	-	PubMed: Elli 2013	-	M	no	(Italy)	-	-	-	-	-	PHP1A	round face (HP:0000311); brachydactyly (HP:000156);	GNAS	-	1	1	Francesca Marta Elli
00029540	-	PubMed: Elli 2013	-	F	no	(Italy)	-	-	-	-	-	PHP1A	round face (HP:0000311); obesity (HP:0001513); ectopic ossification (HP:0011986);	GNAS	-	1	1	Francesca Marta Elli
00029541	-	PubMed: Elli 2013	-	F	no	(Italy)	-	-	-	-	-	PHP1A	round face (HP:0000311); obesity (HP:0001513); ectopic ossification (HP:0011986);	GNAS	-	1	2	Francesca Marta Elli
00029542	-	PubMed: Elli 2013	brother of pt hm5a	M	no	(Italy)	-	-	-	-	-	PHP1A	round face (HP:0000311); obesity (HP:0001513); brachydactyly (HP:000156);	GNAS	-	1	3	Francesca Marta Elli

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Global Variome shared LOVD

TTC37 (tetratricopeptide repeat domain 37)