Disease #00226

Official abbreviation POH
Name heteroplasia, osseous, progressive (POH)
OMIM ID 166350
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 27
Phenotype entries for this disease 15
Associated with 1 gene GNAS
Associated tissues -
Disease features -
Remarks -


Individuals

27 entries on 1 page. Showing entries 1 - 27.
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00029443 - - - ? ? - - - 0 - - POH - GNAS GNAS 1 1 Francesca Marta Elli
00029468 - - - ? ? - - - 0 - - POH - GNAS GNAS 1 1 Francesca Marta Elli
00029473 - - - ? ? - - - 0 - - POH - GNAS GNAS 1 1 Francesca Marta Elli
00029492 - - - ? ? - - - 0 - - POH - GNAS GNAS 1 1 Francesca Marta Elli
00029497 - - - ? ? - - - 0 - - POH - GNAS GNAS 1 1 Francesca Marta Elli
00029503 - - - ? ? - - - 0 - - POH - GNAS GNAS 1 1 Francesca Marta Elli
00029506 - - - ? ? - - - 0 - - POH - GNAS GNAS 1 1 Francesca Marta Elli
00029510 - - - ? ? - - - 0 - - POH - GNAS GNAS 1 1 Francesca Marta Elli
00029530 - PubMed: Kumagai 2008 - M ? Japan - - 0 - - POH - GNAS GNAS 1 20 Francesca Marta Elli
00029531 - PubMed: Shore 2002 - ? ? - - - 0 - - POH - GNAS GNAS 1 2 Francesca Marta Elli
00029532 - PubMed: Shore 2002 - ? ? - - - 0 - - POH - GNAS GNAS 1 1 Johan den Dunnen
00029533 - PubMed: Yeh 2000 - F ? ? (unknown) - - 0 - - POH congenital heterotopic ossification of dermis and subcutaneous fat that progressed to involve deep skeletal muscles of face/scalp/eyes; no other characteristic AHO features were expressed GNAS GNAS 1 21 Francesca Marta Elli
00029534 - PubMed: Gelfand 2007 - M ? ? (unknown) - - 0 - - POH AHO phenotype; neonatal hypoglycemia, hypocalcemia, hypoxia, bradycardia, length/weight above the 95th percentil; laboratory evaluation at 4m revealed elevated TSH; flat nasal bridge, bilateral short fourth metacarpals with classic knuckle-dimple sign consistent with AHO phenotype GNAS GNAS 1 1 Francesca Marta Elli
00029535 - PubMed: Schimmel 2010 - F no Netherlands Dutch - 0 - - POH diffuse skin ossification, no skeletal malformations GNAS GNAS 1 2 Francesca Marta Elli
00029536 - PubMed: Schimmel 2010 - F no Netherlands Dutch - 0 - - POH normal development until 7y, cutaneous and subcutaneous ossification GNAS GNAS 1 1 Francesca Marta Elli
00081824 - PubMed: Long 2007 - M - (United States) - - 0 - - POH - GNAS GNAS 1 1 Arrate Pereda
00087209 - PubMed: Lebrun 2010 - M - (France) - - 0 - - POH - GNAS GNAS 1 1 Arrate Pereda
00087210 - PubMed: Lebrun 2010 PHP1A POH-like M - (France) - - 0 - - POH - GNAS GNAS 1 1 Arrate Pereda
00087211 - PubMed: Lebrun 2010 - F - (France) - - 0 - - POH - GNAS GNAS 1 1 Arrate Pereda
00087212 - PubMed: Lebrun 2010 - F - (France) - - 0 - - POH - GNAS GNAS 1 1 Arrate Pereda
00087213 - PubMed: Lebrun 2010 - F - (France) - - 0 - - POH - GNAS GNAS 1 1 Arrate Pereda
00087214 - PubMed: Lebrun 2010 - M - (France) - - 0 - - POH - GNAS GNAS 1 1 Arrate Pereda
00087215 - PubMed: Lebrun 2010 - F - (France) - - 0 - - POH - GNAS GNAS 1 1 Arrate Pereda
00087216 - - - M - (France) - - 0 - - POH - GNAS GNAS 1 1 Arrate Pereda
00087217 - PubMed: Lebrun 2010 - M - (France) - - 0 - - POH - GNAS GNAS 1 1 Arrate Pereda
00087218 - PubMed: Lebrun 2010 3-generation family, 5 affecteds (Proband showed POH/PPHP overlap) F;M - (France) - - 0 - - PHP-1A, POH, PPHP - GNAS GNAS 1 5 Arrate Pereda
00088256 - PubMed: Pereda 2015 - M - (Spain) - - 0 - - POH - GNAS GNAS 1 1 Arrate Pereda
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