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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease thrombocytopenia
Symptom C0021311|infections
Sentences 7
PubMedID- 22929189 The signs of cbl malabsorption are general weakness, slow growth, developmental delays and learning difficulties, dementia, psychological problems, neurodegeneration of the spinal cord, increased rate of infections due to neutropenia, thrombocytopenia, and megaloblastic anemia with lethal consequences if not treated 9.
PubMedID- 21629797 Thrombotic thrombocytopenic purpura (ttp) is an uncommon life-threatening disease characterized by microangiopathic hemolytic anemia and thrombocytopenia, commonly associated with infections, malignancy, drugs, and autoimmune diseases.
PubMedID- 24297458 2010)25m7karyotype/subtelomeric test/frax5q14.3q15 (89,690,573–94,582,832)x1gpr984.8fish/fishde novodelayed psychomotor development, mild id (iq 68), speech delay, muscular hypertonia, epilepsy; dysmorphic features: protruding ears, frontal bossing61344326cm5karyotype/subtelomeric test6q25.1q25.3 (152,487,219–157,341,421)x1arid1b4.8fish/acghde novodelayed psychomotor development, severe id, absent speech, inarticulate, single sounds, heart defect: pfo, and hypothyroidism; dysmorphic features: trigonocephaly, thick eyebrows, long eyelashes, epicanthic folds anteverted nares, prominent alae nasi, long, flat philtrum, thin upper lip, open mouth appearance, protruding tongue, protruding ears, pectus excavatum, square distal finger tips, abnormal palmar crease, left cryptorchidism, left inguinal hernia, hypertrichosis, and fair skin61286327m17–10q24.32 (103,852,046–104,127,504)x1pitx30.27pcrnot matmild id (iq 65), speech development delay, significant behavior abnormalities (abnormal interpersonal relations, aggressiveness, hyperactivity), self-destructive behavior (onychotillomania, trichotillomania, polyembolokoilamania),, sleep disturbances, seizures episode (abnormal eeg), recurrent respiratory tract infections (until 4 years of age), and idiopathic thrombocytopenia (at the age of 10 years); dysmorphic features: long “coarse” face, high forehead, open mouth, synophrys, short, broad nose, thick, everted lower lip, large ear lobule, thickened helix, brachydactyly type a3, hyperextensible interphalangeal joints, clinodactyly of the iv and v fingers, walking on the external borders of both feet, pes planus, family history: father: learning difficulties, proband’s sister: mild id (she has a developmentally delayed son)(derwińska et al.
PubMedID- 20377870 Multiple mechanisms have been proposed for the thrombocytopenia associated with e. canis infections including increased platelet consumption, splenic sequestration and immune-mediated mechanisms associated with increased platelet destruction .
PubMedID- 24489676 This mechanism is relevant to the destruction of platelet in autoimmune thrombocytopenia patients with gram-negative bacteria infections .
PubMedID- 21711538 Immunemediated thrombocytopenia associated with a. vasorum infections has also been reported as a possible cause of bleedings .
PubMedID- 21531882 thrombocytopenia was associated with community-acquired bacteremia, infections caused by methicillin-sensitive s aureus, high-magnitude bacteremia (defined as >4 positive blood cultures >/= 3 separate positive blood culture sets), and endocarditis.

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