Disease #00226

Official abbreviation POH
Name heteroplasia, osseous, progressive (POH)
OMIM ID 166350
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
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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