Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL
THROMBOTIC MICROANGIOPATHY, FAMILIAL
MICROANGIOPATHIC HEMOLYTIC ANEMIA
UPSHAW FACTOR, DEFICIENCY OF
MICROANGIOPATHIC HEMOLYTIC ANEMIA, CONGENITAL
SCHULMAN-UPSHAW SYNDROME
TTP
USS
upshaw-schulman syndrome
Number of Symptoms 21
OrphanetNr: 93583
OMIM Id: 274150
ICD-10: M31.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
Childhood
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic thrombotic microangiopathy
 -Rare genetic disease
Rare genetic coagulation disorder
 -Rare genetic disease
Thrombotic thrombocytopenic purpura
 -Rare hematologic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

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