Disease #00469 (HPS (Hermansky-Pudlak syndrome))

Official abbreviation HPS
Name Hermansky-Pudlak syndrome
OMIM ID -
Inheritance -
Individuals reported having this disease 50
Phenotype entries for this disease 50
Associated with 5 genes HPS1, HPS3, HPS4, HPS5, HPS6
Associated tissues -
Disease features -
Remarks -
Date created 2014-07-23 09:19:23 +02:00 (CEST)
Date last edited 2022-01-25 17:51:50 +01:00 (CET)


Individuals

50 entries on 1 page. Showing entries 1 - 50.
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AscendingIndividual ID     
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00019454 - - - - - - - - - - - HPS - HPS5 HPS5 1 1 William (Bill) Oetting
00019457 - - - - - - - - - - - HPS - HPS5 HPS5 1 1 William (Bill) Oetting
00019458 - - - - - - - - - - - HPS - HPS5 HPS5 1 1 William (Bill) Oetting
00019459 - - - - - - - - - - - HPS - HPS5 HPS5 1 1 William (Bill) Oetting
00019460 - - - - - - - - - - - HPS - HPS5 HPS5 1 1 William (Bill) Oetting
00019461 - - - - - - - - - - - HPS - HPS5 HPS5 1 1 William (Bill) Oetting
00019462 - - - - - - - - - - - HPS - HPS5 HPS5 1 1 William (Bill) Oetting
00019463 - - - - - - - - - - - HPS - HPS4 HPS4 1 1 William (Bill) Oetting
00019464 - - - - - - - - - - - HPS - HPS4 HPS4 1 1 William (Bill) Oetting
00019465 family PubMed: Schreyer-Shafir 2006 5-generation family, 20 affected (14F, 6M), unaffected heterozygous carrier parents/relatives F;M - Israel Bedioun - - - - HPS see paper; ... HPS6 HPS6 1 1 William (Bill) Oetting
00019466 patient PubMed: Zhang 2003 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F - Belgium - - - - - HPS see paper; ..., oculocutaneous albinism, frequent prolonged nosebleeds, prolonged bleeding after dental extractions and surgery, no pulmonary or gastrointestinal symptoms, platelet count normal HPS6 HPS6 1 2 William (Bill) Oetting
00019467 HPS51 PubMed: Huizing 2009 - F - Germany;Ireland - - - - - HPS see paper; ... HPS6 HPS6 1 1 William (Bill) Oetting
00019468 HPS115 PubMed: Huizing 2009 - F - Germany;Netherlands - - - - - HPS see paper; ... HPS6 HPS6 2 1 William (Bill) Oetting
00019469 HPS107 PubMed: Huizing 2009 - M - England;Germany;Scotland - - - - - HPS see paper; ... HPS6 HPS6 2 1 William (Bill) Oetting
00019470 HPS178 PubMed: Huizing 2009 affected man and 2 sisters M - Italy - - - - - HPS see paper; ... HPS6 HPS6 2 3 William (Bill) Oetting
00019471 - - - - - Turkey - - - - - HPS - HPS5 HPS5 2 1 William (Bill) Oetting
00019472 - - - - - Germany - - - - - HPS - HPS4 HPS4 2 1 William (Bill) Oetting
00019473 - - - - - Germany - - - - - HPS - HPS4 HPS4 2 1 William (Bill) Oetting
00019474 - - - - - Germany - - - - - HPS - HPS4 HPS4 1 1 William (Bill) Oetting
00019475 - - 3 unrelated families - - Italy - - - - - HPS - HPS4 HPS4 2 3 William (Bill) Oetting
00019476 - - - - - Netherlands - - - - - HPS - HPS4 HPS4 1 1 William (Bill) Oetting
00019477 - - - - - Sri Lanka - - - - - HPS - HPS4 HPS4 2 1 William (Bill) Oetting
00019478 - - - - - - - - - - - HPS - HPS4 HPS4 2 1 William (Bill) Oetting
00019479 - PubMed: Anikster 2001 2-generation family, 5 affecteds (2F, 3M), unaffected heterozygous carrier parents F;M yes Puerto Rico - - - - - HPS see paper; ... HPS3 HPS3 1 5 William (Bill) Oetting
00019480 - PubMed: Huizing 2001 - F no Italy;Puerto Rico - - - - - HPS see paper; ... HPS3 HPS3 1 1 William (Bill) Oetting
00019481 - PubMed: Huizing 2001 - F - United States Jewish-Ashkenazi - - - - HPS see paper; ... HPS3 HPS3 1 1 William (Bill) Oetting
00019482 - PubMed: Huizing 2001 - F - United States Jewish-Ashkenazi - - - - HPS see paper; ... HPS3 HPS3 2 1 William (Bill) Oetting
00019483 - PubMed: Huizing 2001 - F no Germany;Ireland Jewish-Ashkenazi - - - - HPS, JBS;11q see paper; ... HPS3 HPS3 3 1 William (Bill) Oetting
00019484 - PubMed: Huizing 2001 - M - Germany;Switzerland - - - - - HPS see paper; ... HPS3 HPS3 2 1 William (Bill) Oetting
00019485 - PubMed: Huizing 2001 - M - Ireland - - - - - HPS see paper; ... HPS3 HPS3 1 1 William (Bill) Oetting
00019486 - - family, 2 affecteds - - Netherlands white - - - - HPS - AP3B1 AP3B1 2 2 William (Bill) Oetting
00019487 - - - - - - - - - - - HPS - AP3B1 AP3B1 2 1 William (Bill) Oetting
00019488 - - - - - United States American, native, Houma Indian - - - - HPS - AP3B1 AP3B1 2 1 William (Bill) Oetting
00019489 - PubMed: Kotzot 1994 - - - Turkey - - - - - HPS - AP3B1 AP3B1 2 1 William (Bill) Oetting
00019490 - - - - - - - - - - - HPS lethal hemophagocytic lymphohistiocytosis AP3B1 AP3B1 2 1 William (Bill) Oetting
00019491 - - - - - Portugal - - - - - HPS - DTNBP1 DTNBP1 2 1 William (Bill) Oetting
00019492 - - - - - Pakistan - - - - - HPS - BLOC1S3 BLOC1S3 2 1 William (Bill) Oetting
00019493 - - - - - India - - - - - HPS - BLOC1S6 BLOC1S6 2 1 William (Bill) Oetting
00090119 - PubMed: Anikster 2001 3-generation family, 5 affecteds (3F, 2M), unaffected heterozygous carrier parents F;M - Puerto Rico - - - - - HPS see paper; … HPS3 HPS3 1 5 William (Bill) Oetting
00090120 - PubMed: Anikster 2001 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Puerto Rico - - - - - HPS see paper; … HPS3 HPS3 1 2 William (Bill) Oetting
00090121 - PubMed: Anikster 2001 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Puerto Rico - - - - - HPS see paper; … HPS3 HPS3 1 1 William (Bill) Oetting
00090122 - PubMed: Anikster 2001 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Puerto Rico - - - - - HPS see paper; … HPS3 HPS3 1 1 William (Bill) Oetting
00090123 - PubMed: Anikster 2001 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Puerto Rico - - - - - HPS see paper; … HPS3 HPS3 1 1 William (Bill) Oetting
00090124 - PubMed: Huizing 2001 - F - United States Jewish-Ashkenazi - - - - HPS see paper; … HPS3 HPS3 1 1 William (Bill) Oetting
00090125 - PubMed: Huizing 2001 - F - United States Jewish-Ashkenazi - - - - HPS see paper; … HPS3 HPS3 1 1 William (Bill) Oetting
00218606 patient Journal: Jelsig 2016 - - - (Denmark) (European) - - - - HPS HPS BMPR1A BMPR1A 1 1 Karl Heinimann
00218607 patient Journal: Jelsig 2016 - - - (Denmark) (European) - - - - HPS HPS BMPR1A BMPR1A 1 1 Karl Heinimann
00218753 patient Journal: Jelsig 2016 - - - (Denmark) (European) - - - - HPS HPS SMAD4 SMAD4 1 1 Karl Heinimann
00379684 IR_GH_0075 - - F - Korea, South (Republic) - - - - - HPS HP:0032122, HP:0000613, HP:0001123, HP:0000639, HP:0000007, HP:0007443, HP:0007750, HP:0000978 - HPS5 2 1 Jinu Han
00410806 Pat10 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected (incl. Hermansky Pudlak syndrome), unaffected carrier parents M - - - - - - - HPS, NDD 2 sisters also affected with Hermansky-Pudlak syndrome, no complications pregnancy; no neonatal complications; failure to thrive; no truncal overweight; severe intellectual disability/developmental delay; motor delay; speech delay; behavioral disorders; hypotonia; seizures; MRI brain normal; no hearing loss; vision problems; cardiac anomalies; urogenital/kidney anomalies; no scoliosis; no pectus deformity; asymmetric chest; facial features - HPS1, SRSF1 2 1 Johan den Dunnen
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