Thrombotic thrombocytopenic purpura

General Information (adopted from Orphanet):

Synonyms, Signs: THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL
UPSHAW-SCHULMAN SYNDROME
THROMBOTIC MICROANGIOPATHY, FAMILIAL
MICROANGIOPATHIC HEMOLYTIC ANEMIA
UPSHAW FACTOR, DEFICIENCY OF
MICROANGIOPATHIC HEMOLYTIC ANEMIA, CONGENITAL
SCHULMAN-UPSHAW SYNDROME
TTP
USS
Moschcowitz disease
Number of Symptoms 27
OrphanetNr: 54057
OMIM Id: 274150
ICD-10: D69.4
UMLs: C0034155
MeSH: D011697
MedDRA: 10043648
Snomed: 78129009

Prevalence, inheritance and age of onset:

Prevalence: 25.5 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
Multifactorial
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare thrombotic disorder due to a platelet anomaly
 -Rare hematologic disease
Thrombotic microangiopathy
 -Rare renal disease

Symptom Information: Sort by abundance 

1
(HPO:0000093) Proteinuria 169 / 7739
2
(HPO:0012211) Abnormal renal physiology 23 / 7739
3
(HPO:0005575) Hemolytic-uremic syndrome 11 / 7739
4
(HPO:0002907) Microscopic hematuria 27 / 7739
5
(HPO:0004372) Reduced consciousness/confusion 73 / 7739
6
(HPO:0001289) Confusion 36 / 7739
7
(HPO:0001337) Tremor 200 / 7739
8
(HPO:0006579) Prolonged neonatal jaundice 25 / 7739
9
(HPO:0001873) Thrombocytopenia 224 / 7739
10
(HPO:0001903) Anemia 289 / 7739
11
(HPO:0001923) Reticulocytosis 28 / 7739
12
(HPO:0001937) Microangiopathic hemolytic anemia 12 / 7739
13
(HPO:0001981) Schistocytosis 7 / 7739
14
(HPO:0001945) Fever 218 / 7739
15
(HPO:0002151) Increased serum lactate 92 / 7739
16
(HPO:0003259) Elevated serum creatinine 31 / 7739
17
(HPO:0003138) Increased blood urea nitrogen 14 / 7739
18
(HPO:0002098) Respiratory distress Rare [HPO:skoehler] 75 / 7739
19
(HPO:0001425) Heterogeneous 132 / 7739
20
(OMIM) Fluctuating neurologic signs 2 / 7739
21
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
22
(OMIM) Focal neurologic signs 2 / 7739
23
(OMIM) Decreased serum haptoglobin 3 / 7739
24
(OMIM) Increased serum lactate dehydrogenase (LDH) 3 / 7739
25
(MedDRA:10001052) Acute respiratory distress syndrome 3 / 7739
26
(MedDRA:10043645) Thrombotic microangiopathy 11 / 7739
27
(OMIM) Ultra large von Willebrand factor (UL-vWF) in plasma 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The classic pentad of TTP includes hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and nonfocal neurologic findings, decreased renal function, and fever. Congenital TTP, also known as Schulman-Upshaw syndrome, is characterized by neonatal onset, response to fresh ...
Clinical Description OMIM Upshaw (1978) described a female with congenital deficiency of a factor in normal plasma that reverses microangiopathic hemolysis and thrombocytopenia, indicating a factor important to platelet and red cell survival. The proband, an only child of unrelated parents, ...
Molecular genetics OMIM By analysis of genomic DNA from patients with familial TTP, Levy et al. (2001) identified 12 mutations in the ADAMTS13 gene (604134.0001-604134.0012), accounting for 14 of the 15 disease alleles studied. Levy et al. (2001) demonstrated that deficiency ...