Disease #01951 (MPOD (myeloperoxidase deficiency (MPOD)), OMIM:254600)

Official abbreviation MPOD
Name myeloperoxidase deficiency (MPOD)
OMIM ID 254600
Human Phenotype Ontology Project (HPO) HPO
Inheritance AR
Individuals reported having this disease 24
Phenotype entries for this disease 24
Associated with 1 gene MPO
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Individuals

24 entries on 1 page. Showing entries 1 - 24.
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00307289 Pat1 AP PubMed: Marchetti 2004, Journal: Marchetti 2020 - F - Italy - - 0 - - MPOD - MPO MPO 1 1 Johan den Dunnen
00307290 Pat2 AA PubMed: Marchetti 2004, Journal: Marchetti 2020 - F - Italy - - 0 - - MPOD - MPO MPO 2 1 Johan den Dunnen
00307291 Pat3 ZA PubMed: Marchetti 2004, Journal: Marchetti 2020 - F - Italy - - 0 - - MPOD - MPO MPO 1 1 Johan den Dunnen
00307292 Pat4 BM PubMed: Marchetti 2004, Journal: Marchetti 2020 - F - Italy - - 0 - - MPOD - MPO MPO 1 1 Johan den Dunnen
00307293 Pat5 BN PubMed: Marchetti 2004, Journal: Marchetti 2020 - M - Italy - - 0 - - MPOD - MPO MPO 1 1 Johan den Dunnen
00307294 Pat6 CE PubMed: Marchetti 2004, Journal: Marchetti 2020 - F - Italy - - 0 - - MPOD - MPO MPO 1 1 Johan den Dunnen
00307295 Pat7 CM PubMed: Marchetti 2004, Journal: Marchetti 2020 - F - Italy - - 0 - - MPOD - MPO MPO 1 1 Johan den Dunnen
00307296 Pat8 CG PubMed: Marchetti 2004, Journal: Marchetti 2020 - M - Italy - - 0 - - MPOD - MPO MPO 2 1 Johan den Dunnen
00307297 Pat9 CA PubMed: Marchetti 2004, Journal: Marchetti 2020 - M - Italy - - 0 - - MPOD - MPO MPO 1 1 Johan den Dunnen
00307298 Pat10 DD PubMed: Marchetti 2004, Journal: Marchetti 2020 - M - Italy - - 0 - - MPOD - MPO MPO 2 1 Johan den Dunnen
00307299 Pat11 LG PubMed: Marchetti 2004, Journal: Marchetti 2020 - M - Italy - - 0 - - MPOD - MPO MPO 1 1 Johan den Dunnen
00307300 Pat12 MA PubMed: Marchetti 2004, Journal: Marchetti 2020 - F - Italy - - 0 - - MPOD - MPO MPO 1 1 Johan den Dunnen
00307301 Pat13 RM PubMed: Marchetti 2004, Journal: Marchetti 2020 - F - Italy - - 0 - - MPOD - MPO MPO 2 1 Johan den Dunnen
00307302 Pat14 SI PubMed: Marchetti 2004, Journal: Marchetti 2020 - F - Italy - - 0 - - MPOD - MPO MPO 1 1 Johan den Dunnen
00307303 Pat15 VO PubMed: Marchetti 2004, Journal: Marchetti 2020 - F - Italy - - 0 - - MPOD - MPO MPO 2 1 Johan den Dunnen
00307320 FamPatDP PubMed: Romano 1997 2-generation family, affected father/daughter, unaffected mother M - Italy - - 0 - - MPOD absence of peroxidase activity in neutrophils MPO MPO 2 2 Johan den Dunnen
00307321 FamPatMP PubMed: Romano 1997 daughter F - Italy - - 0 - - MPOD complete absence MPO activity in neutrophils MPO MPO 1 1 Johan den Dunnen
00307322 PatLH PubMed: Nauseef 1994 - - - United States - - 0 - - MPOD - MPO MPO 1 1 Johan den Dunnen
00307323 FamSPatBS PubMed: DeLeo 1998 3-generation family, 1 affected, several heterozygous carriers M - United States - - 0 - - MPOD complete myeloperoxidase deficiencysee paper; ..., MPO MPO 1 1 Johan den Dunnen
00307325 patient PubMed: Ohashi 2004 2-generation family, 1 affected, unaffected parents M - Japan - - 0 - - MPOD complete MPO deficiency, signs of obstructive pulmonary disease, although no history of recurrent infections or medication known to interfere with MPO activity present or used MPO MPO 1 1 Johan den Dunnen
00307326 patient PubMed: Kameoka 2004, PubMed: Persad 2006 - F - Japan - - 0 - - MPOD see paper; ... MPO MPO 1 1 Johan den Dunnen
00307327 PatSQ PubMed: Kizaki 1994 - F - United States Hispanic - 0 - - MPOD - MPO MPO 1 1 Johan den Dunnen
00309834 Fam9–274 PubMed: Brandl 2017 3-generation family, 1 affected M - Germany - - 0 - - MPOD see paper; ... IMPG2 IMPG2 1 1 Johan den Dunnen
00309835 Fam8–553 PubMed: Brandl 2017 2-generation family, 2 affected (F, M) F - Germany - - 0 - - MPOD see paper; ... IMPG2 IMPG2 1 2 Johan den Dunnen
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