MCID: TFR002
MIFTS: 33

Tafro Syndrome

Categories: Blood diseases, Bone diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Tafro Syndrome

MalaCards integrated aliases for Tafro Syndrome:

Name: Tafro Syndrome 58 6
Thrombocytopenia-Anasarca-Fever-Renal Insufficiency-Organomegaly Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
tafro syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Elderly; Age of death: adult,elderly;

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 M35.8
Orphanet 58 ORPHA457077

Summaries for Tafro Syndrome

MalaCards based summary : Tafro Syndrome, also known as thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome, is related to thrombocytopenia and myelofibrosis. An important gene associated with Tafro Syndrome is MAP2K2 (Mitogen-Activated Protein Kinase Kinase 2), and among its related pathways/superpathways are NF-kappaB Signaling and Chromatin Regulation / Acetylation. Affiliated tissues include endothelial, bone marrow and skeletal muscle, and related phenotypes are cellular and cardiovascular system

Related Diseases for Tafro Syndrome

Diseases related to Tafro Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 thrombocytopenia 10.9
2 myelofibrosis 10.7
3 castleman disease 10.7
4 multicentric castleman disease 10.6
5 proteinuria, chronic benign 10.4
6 glomerulonephritis 10.4
7 lymphoproliferative syndrome 10.4
8 splenomegaly 10.4
9 membranoproliferative glomerulonephritis 10.3
10 thrombotic microangiopathy 10.3
11 hypothyroidism 10.2
12 acute kidney failure 10.2
13 fibrosis of extraocular muscles, congenital, 1 10.2
14 respiratory failure 10.2
15 poems syndrome 10.2
16 human herpesvirus 8 10.1
17 disseminated intravascular coagulation 10.1
18 hemopericardium 10.1
19 pericardial effusion 10.1
20 atrial standstill 1 10.0
21 systemic lupus erythematosus 10.0
22 deficiency anemia 10.0
23 angioimmunoblastic t-cell lymphoma 10.0
24 microcytic anemia 10.0
25 nephrotic syndrome 10.0
26 polyneuropathy 10.0
27 toxic shock syndrome 10.0
28 panniculitis 10.0
29 thrombocytosis 10.0
30 hemangioma 10.0
31 anuria 10.0
32 proliferative glomerulonephritis 10.0
33 glomeruloid hemangioma 10.0
34 kidney disease 10.0
35 peritonitis 10.0
36 lupus erythematosus 10.0
37 amyotrophic lateral sclerosis 1 9.9
38 autoimmune disease 9.9
39 factor viii deficiency 9.9
40 retinal detachment 9.9
41 rheumatoid arthritis 9.9
42 anemia, autoimmune hemolytic 9.9
43 sjogren syndrome 9.9
44 hemophilia a 9.9
45 angioma, tufted 9.9
46 granulomatosis with polyangiitis 9.9
47 aplastic anemia 9.9
48 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.9
49 disease by infectious agent 9.9
50 hemophagocytic lymphohistiocytosis 9.9

Graphical network of the top 20 diseases related to Tafro Syndrome:



Diseases related to Tafro Syndrome

Symptoms & Phenotypes for Tafro Syndrome

MGI Mouse Phenotypes related to Tafro Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 AR ARID2 CXCL10 KMT2B MAP2K2 RUNX1
2 cardiovascular system MP:0005385 9.88 AR ARID2 CXCL10 KMT2B MAP2K2 RUNX1
3 homeostasis/metabolism MP:0005376 9.87 AR ARID2 CXCL10 KMT2B MAP2K2 RUNX1
4 mortality/aging MP:0010768 9.76 AR ARID2 CXCL10 KMT2B MAP2K2 MPEG1
5 immune system MP:0005387 9.73 AR ARID2 CXCL10 MPEG1 RUNX1 TCF3
6 neoplasm MP:0002006 9.26 AR MAP2K2 RUNX1 TCF3
7 normal MP:0002873 9.02 AR KMT2B MAP2K2 RUNX1 TCF3

Drugs & Therapeutics for Tafro Syndrome

Search Clinical Trials , NIH Clinical Center for Tafro Syndrome

Genetic Tests for Tafro Syndrome

Anatomical Context for Tafro Syndrome

MalaCards organs/tissues related to Tafro Syndrome:

40
Endothelial, Bone Marrow, Skeletal Muscle, T Cells

Publications for Tafro Syndrome

Articles related to Tafro Syndrome:

(show top 50) (show all 138)
# Title Authors PMID Year
1
[TAFRO syndrome and cutaneous necrotizing vasculitis]. 61
33218790 2021
2
Treating life-threatening TAFRO syndrome with interleukin-1 inhibition. 61
33608160 2021
3
JAK1/2 Inhibition in Severe TAFRO Syndrome: A Case Report. 61
33428440 2021
4
Sequential change in serum VEGF levels in a case of tocilizumab-resistant TAFRO syndrome treated effectively with rituximab. 61
33269653 2021
5
Optimal treatments for TAFRO syndrome: a retrospective surveillance study in Japan. 61
32970275 2021
6
A severe case of thrombocytopenia, anasarca, fever, renal insufficiency or reticulin fibrosis, and organomegaly syndrome with myocardial and skeletal muscle calcification despite hypocalcemia: a case report. 61
33402219 2021
7
Borderline Case of TAFRO Syndrome and POEMS Syndrome. 61
33328401 2020
8
A Case of Repeated TAFRO Syndrome-Like Symptoms and Retroperitoneal Hemorrhage in a Patient With Sjögren Syndrome. 61
33489586 2020
9
[Treatment of TAFRO syndrome with tocilizumab: a case report]. 61
33445859 2020
10
A pediatric case of tocilizumab-resistant TAFRO syndrome treated successfully with rituximab. 61
32568456 2020
11
Complete Resolution of a Case of TAFRO Syndrome Accompanied by Mediastinal Panniculitis, Adrenal Lesion, and Liver Damage with Hyperbilirubinemia. 61
33191324 2020
12
Tocilizumab for the treatment of TAFRO syndrome: a systematic literature review. 61
32964342 2020
13
Kidney biopsy findings in two patients with TAFRO syndrome: case presentations and review of the literature. 61
33225930 2020
14
An Autopsy Case of TAFRO Syndrome with Type II Respiratory Failure. 61
33048915 2020
15
Development of severe thrombocytopenia with TAFRO syndrome-like features in a patient with rheumatoid arthritis treated with a Janus kinase inhibitor: A case report. 61
33080751 2020
16
Computed tomography findings of early-stage TAFRO syndrome and associated adrenal abnormalities. 61
32440781 2020
17
Disseminated Mycobacterium genavense infection mimicking TAFRO syndrome. 61
32684386 2020
18
Frontline Siltuximab and Rituximab in TAFRO syndrome: A case report. 61
32564425 2020
19
Ascites in the "TAFRO" Syndrome: Does the Squeeze Make the Juice? 61
32617769 2020
20
TAFRO Syndrome 61
32208567 2020
21
The Clinical and Histopathological Feature of Renal Manifestation of TAFRO Syndrome. 61
32775816 2020
22
Recovery from prolonged thrombocytopenia in patients with TAFRO syndrome: case series and literature review. 61
33087016 2020
23
Unexplained cause of thrombocytopenia, fever, anasarca and hypothyroidism: TAFRO syndrome with thrombotic microangiopathy renal histology. 61
32606113 2020
24
Liver cirrhosis in a child associated with Castleman's disease: A case report. 61
32432144 2020
25
Thrombocytopenia, Anasarca, Fever, Reticulin Fibrosis/Renal Failure, and Organomegaly (TAFRO) Syndrome with Bilateral Adrenal Hemorrhage in Two Caucasian Patients. 61
32249274 2020
26
TAFRO Syndrome Presenting with Retroperitoneal Panniculitis-like Computed Tomography Findings at Disease Onset. 61
31839656 2020
27
Genetic basis for iMCD-TAFRO. 61
32051554 2020
28
[A report of six TAFRO syndrome: clinical characteristics, diagnosis and treatment analysis]. 61
32164119 2020
29
Clinical features and treatment of 7 Chinese TAFRO syndromes from 96 de novo Castleman diseases: a 10-year retrospective study. 61
31938902 2020
30
Comparison of the clinical characteristics of TAFRO syndrome and idiopathic multicentric Castleman disease in general internal medicine: a 6-year retrospective study. 61
31211492 2020
31
The Dangers of Immediately Performing a Sensitive and Specific Investigation versus the Dangers of Delaying It: A Cautionary Case of Hodgkin's Lymphoma. 61
33457376 2020
32
Acute Kidney Injury Caused by TAFRO Syndrome in a Chinese Patient: Efficacy of Long-Term Corticosteroids Combined with Bortezomib and Cyclophosphamide. 61
32492687 2020
33
Primary Sjögren's Syndrome Accompanied by Clinical Features of TAFRO Syndrome. 61
33014503 2020
34
[HHV-8-positive Castleman's disease with rapidly progressing multiorgan failure mimicking TAFRO syndrome]. 61
33162447 2020
35
2019 Updated diagnostic criteria and disease severity classification for TAFRO syndrome. 61
31782045 2020
36
Epidemiological analysis of multicentric and unicentric Castleman disease and TAFRO syndrome in Japan. 61
31708515 2019
37
Multicentric Castleman disease with TAFRO syndrome and Sjögren's. 61
31893065 2019
38
Pathological findings of progressive renal involvement in a patient with TAFRO syndrome. 61
31077056 2019
39
Hepatic Campylobacter jejuni infection in patients with Castleman-Kojima disease (idiopathic multicentric Castleman disease with thrombocytopenia, anasarca, fever, reticulin fibrosis, and organomegaly (TAFRO) syndrome). 61
31631463 2019
40
The potential role of follicular helper T cells in idiopathic multicentric Castleman disease with and without TAFRO syndrome. 61
31358479 2019
41
TAFRO syndrome as a cause of glomerular microangiopathy: a case report and literature review. 61
31623576 2019
42
Subclinical Hypothyroidism in TAFRO Syndrome. 61
31178506 2019
43
Is TAFRO syndrome a subtype of idiopathic multicentric Castleman disease? 61
31222819 2019
44
Fatal case of TAFRO syndrome associated with over-immunosuppression: a case report and review of the literature. 61
31579342 2019
45
Clinicopathological features of TAFRO syndrome complicated by acquired hemophilia A and development of cardiopulmonary arrest that were successfully treated with VA-ECMO and tocilizumab. 61
30680669 2019
46
TAFRO Syndrome: A Case of Significant Endocrinopathy in a Caucasian Patient. 61
31453020 2019
47
A case of cerebral infarction in a patient with TAFRO syndrome. 61
30878636 2019
48
Magnetic resonance imaging of bone marrow for TAFRO syndrome. 61
27825275 2019
49
Tufted-angioma-like lesion associated with vascular endothelial growth factor and interleukin-6 in TAFRO syndrome: Is it a common histological feature of multicentric Castleman disease/POEMS syndrome? 61
30632181 2019
50
An extranodal histopathological analysis of idiopathic multicentric Castleman disease with and without TAFRO syndrome. 61
30642741 2019

Variations for Tafro Syndrome

ClinVar genetic disease variations for Tafro Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MAP2K2 NM_030662.3(MAP2K2):c.383C>T (p.Pro128Leu) SNV Pathogenic 666272 rs267607230 GRCh37: 19:4110574-4110574
GRCh38: 19:4110576-4110576
2 RUNX1 NM_001754.4(RUNX1):c.259G>T (p.Gly87Cys) SNV Likely pathogenic 436618 rs561166961 GRCh37: 21:36259232-36259232
GRCh38: 21:34886935-34886935
3 AR NM_000044.6(AR):c.1937C>A (p.Ala646Asp) SNV Uncertain significance 9861 rs1800053 GRCh37: X:66931295-66931295
GRCh38: X:67711453-67711453
4 TCF3 NM_003200.5(TCF3):c.1040A>C (p.Asn347Thr) SNV Uncertain significance 666268 rs1369361815 GRCh37: 19:1621020-1621020
GRCh38: 19:1621021-1621021
5 ARID2 NM_152641.4(ARID2):c.3577A>G (p.Thr1193Ala) SNV Uncertain significance 666269 rs145854622 GRCh37: 12:46245483-46245483
GRCh38: 12:45851700-45851700
6 KMT2B NM_014727.2(KMT2B):c.1108_1109del (p.Glu370fs) Deletion Uncertain significance 666270 rs1599669544 GRCh37: 19:36211356-36211357
GRCh38: 19:35720454-35720455
7 MPEG1 NM_001039396.2(MPEG1):c.661C>A (p.Leu221Ile) SNV Uncertain significance 666271 rs763186541 GRCh37: 11:58979678-58979678
GRCh38: 11:59212205-59212205

Expression for Tafro Syndrome

Search GEO for disease gene expression data for Tafro Syndrome.

Pathways for Tafro Syndrome

Pathways related to Tafro Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.06 TCF3 RUNX1 CXCL10
2 11.84 KMT2B ARID2 AR
3 11.29 TCF3 AR
4 11 TCF3 AR
5 10.78 RUNX1 MAP2K2 AR
6 10.69 MAP2K2 CXCL10
7 10.21 MAP2K2 AR

GO Terms for Tafro Syndrome

Biological processes related to Tafro Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.62 TCF3 RUNX1 CXCL10 AR
2 regulation of transcription, DNA-templated GO:0006355 9.35 TCF3 RUNX1 KMT2B ARID2 AR
3 regulation of megakaryocyte differentiation GO:0045652 9.26 RUNX1 KMT2B
4 regulation of hematopoietic stem cell differentiation GO:1902036 9.16 TCF3 RUNX1
5 positive regulation of transcription, DNA-templated GO:0045893 9.02 TCF3 RUNX1 MAP2K2 KMT2B AR

Molecular functions related to Tafro Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.55 TCF3 RUNX1 KMT2B ARID2 AR
2 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.43 TCF3 RUNX1 AR
3 transcription factor binding GO:0008134 9.13 TCF3 RUNX1 AR
4 transcription regulatory region sequence-specific DNA binding GO:0000976 8.8 TCF3 RUNX1 AR

Sources for Tafro Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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