Disease #05773 (THC (thrombocytopenia (THC)))

Official abbreviation THC
Name thrombocytopenia (THC)
OMIM ID -
Inheritance -
Individuals reported having this disease 14
Phenotype entries for this disease 14
Associated with 2 genes ANKRD26, THPO
Associated tissues -
Disease features -
Remarks -
Date created 2020-06-14 16:20:41 +02:00 (CEST)
Date last edited N/A


Individuals

14 entries on 1 page. Showing entries 1 - 14.
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00303487 patient PubMed: Takenouchi 2016 2-generation family, 1 affected, unaffected non-carrier parents F no Japan - - - - - THC see paper; ..., birth 39w, weight 2,290 g (−1.8 SD), length 46 cm (−1.5 SD); arched eyebrows, mild ptosis, eversion lateral portio lower eyelid, exotropia, midfacial hypoplasia, short philtrum, thin upper lip, malocclusion; length 135 cm (−4.3 SD), weight 33 kg (−3.0 SD); psychomotor development delayed walk-3y no seizures/no epilepsy; no ataxia; no cerebellar atrophy; ventriculomegaly; platelet count 63,000/μl, platelet size increased hemoglobin 12.5 g/dl; white blood count 2,300/μl; progressive microcephaly; camptodactyly; lymphedema; protein‐losing enteropathy; sensory neural hearing loss; no patent ductus arteriosus; no inguinal hernia CDC42 CDC42 1 1 Johan den Dunnen
00303488 patient PubMed: Takenouchi 2015 2-generation family, 1 affected, unaffected non-carrier parents F - Iran;Japan - - - - - THC see paper; ..., birth 39w, weight 2,980 g (±0.0 SD), length 50 cm (+0.6 SD); arched eyebrows, mild ptosis, eversion lateral portio lower eyelid, exotropia, midfacial hypoplasia, short philtrum, thin upper lip, malocclusion; length 150 cm (−1.5 SD), weight 39 kg (−1.6 SD); psychomotor development delayed walk-4y no seizures/no epilepsy; ataxia; no cerebellar atrophy ventriculomegaly; platelet count 98,000/μl, platelet size increased hemoglobin 13.5 g/dl; white blood count 4,600/μl; progressive microcephaly; camptodactyly; lymphedema; no protein‐losing enteropathy; sensory neural hearing loss; 1y-patent ductus arteriosus surgically ligated inguinal hernia, operated CDC42 CDC42 1 1 Johan den Dunnen
00332334 family PubMed: Al Daama 2013 4-generation family, 10 affected (6F, 4M) F;M - Saudi Arabia - - - - - THC see paper; ..., thrombocytopenia - ANKRD26 1 1 Johan den Dunnen
00332335 FamR/family PubMed: Punzo 2010, PubMed: Pippucci 2011 4-generation family, 19 affected (9F, 10M) F;M no Italy - - - - - THC see paper; ...m ACBD5, ANKRD26 ACBD5, ANKRD26 2 19 Johan den Dunnen
00332336 FamK PubMed: Punzo 2010 family, 4 affected - no Italy - - - - - THC see paper; ...m ACBD5 ACBD5 1 4 Johan den Dunnen
00332337 Fam1 PubMed: Pippucci 2011 4-generation family, 9 affected (4F, 5M) F;M no Italy - - - - - THC see paper; ... ANKRD26 ANKRD26 1 9 Johan den Dunnen
00332338 Fam2 PubMed: Pippucci 2011 4-generation family, 8 affected (6F, 2M) F;M no Italy - - - - - THC see paper; ... ANKRD26 ANKRD26 1 8 Johan den Dunnen
00332339 Fam3 PubMed: Pippucci 2011 3-generation family, 3 affected (F, 2M) F;M no Italy - - - - - THC see paper; ... ANKRD26 ANKRD26 1 3 Johan den Dunnen
00332340 Fam5 PubMed: Pippucci 2011 generation family, 3 affected - no Italy - - - - - THC see paper; ... ANKRD26 ANKRD26 1 3 Johan den Dunnen
00332341 Fam6 PubMed: Pippucci 2011 generation family, 2 affected - no Italy - - - - - THC see paper; ... ANKRD26 ANKRD26 1 2 Johan den Dunnen
00332342 Fam9 PubMed: Pippucci 2011 generation family, 2 affected - no Italy - - - - - THC see paper; ... ANKRD26 ANKRD26 1 2 Johan den Dunnen
00332343 Fam10 PubMed: Pippucci 2011 generation family, 3 affected - no Italy - - - - - THC see paper; ... ANKRD26 ANKRD26 1 3 Johan den Dunnen
00332344 Fam12 PubMed: Pippucci 2011 generation family, 2 affected - no Argentina - - - - - THC see paper; ... ANKRD26 ANKRD26 1 2 Johan den Dunnen
00332346 family PubMed: Drachman 2000, PubMed: Pippucci 2011 large multi-generation family, 15 affected (10F, 5M) F;M no United States - - - - - THC see paper; ... ANKRD26, MASTL ANKRD26, MASTL 2 15 Johan den Dunnen
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