TEC
MCID: TRN030
MIFTS: 34

Transient Erythroblastopenia of Childhood (TEC)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Transient Erythroblastopenia of Childhood

MalaCards integrated aliases for Transient Erythroblastopenia of Childhood:

Name: Transient Erythroblastopenia of Childhood 57 73 20 58 13
Transient Acquired Pure Red Cell Aplasia 58 70 32
Erythroblastopenia, Transient 57 20 54
Tec 57 20
Familial Transient Erythroblastopenia of Childhood 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
transient erythroblastopenia of childhood:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

OMIM® 57 227050
ICD10 32 D60.1
MESH via Orphanet 45 C536980
ICD10 via Orphanet 33 D60.1
UMLS via Orphanet 71 C0238478
Orphanet 58 ORPHA98871
MedGen 41 C0238478
SNOMED-CT via HPO 68 258211005
UMLS 70 C0451688

Summaries for Transient Erythroblastopenia of Childhood

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98871 Definition A rare, benign, red cell aplasia of young children or infants characterized by a normocytic normochromic anaemia with severe reticulocytopenia in otherwise normocellular bone marrow, and a complete spontaneous recovery within 1-2 months after diagnosis. Neutropenia and thrombocytosis may be associated findings at diagnosis, and a history of a preceding viral illness is frequent. No organomegaly is observed.

MalaCards based summary : Transient Erythroblastopenia of Childhood, also known as transient acquired pure red cell aplasia, is related to pure red-cell aplasia and thrombocytosis. An important gene associated with Transient Erythroblastopenia of Childhood is TEC (Tec Protein Tyrosine Kinase), and among its related pathways/superpathways are Tyrosine Kinases / Adaptors and Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include bone marrow, bone and neutrophil, and related phenotype is transient erythroblastopenia.

OMIM® : 57 Transient erythroblastopenia of childhood is a pure red cell aplasia that occurs in a previously healthy child, most commonly between 6 months and 4 years of age. The course is characterized by a complete recovery, usually within 1 to 2 months after diagnosis. In most cases no therapy is necessary, although some children may need red cell transfusion (summary by Gustavsson et al., 2002). (227050) (Updated 20-May-2021)

Wikipedia : 73 Transient erythroblastopenia of childhood (TEC) is a slowly developing anemia of early childhood... more...

Related Diseases for Transient Erythroblastopenia of Childhood

Diseases related to Transient Erythroblastopenia of Childhood via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 121)
# Related Disease Score Top Affiliating Genes
1 pure red-cell aplasia 30.0 RPS19 EPO
2 thrombocytosis 29.7 KITLG EPO
3 aplastic anemia 29.5 RPS19 KITLG EPO
4 diamond-blackfan anemia 29.3 RPS19 KITLG EPO
5 deficiency anemia 29.3 RPS19 KITLG EPO
6 agammaglobulinemia, x-linked 11.1
7 b cell deficiency 11.1
8 immune deficiency disease 11.1
9 bleeding disorder, platelet-type, 11 10.9
10 primary acquired red cell aplasia 10.6
11 chondrosarcoma 10.4
12 candidiasis 10.3
13 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.2
14 neutropenia 10.2
15 hemolytic anemia 10.2
16 chondrosarcoma, extraskeletal myxoid 10.2
17 cytokine deficiency 10.2
18 extraosseous chondrosarcoma 10.2
19 myxoid chondrosarcoma 10.2
20 kala-azar 1 10.1
21 leishmaniasis 10.1
22 visceral leishmaniasis 10.1
23 allergic asthma 10.1
24 breath-holding spells 10.1
25 metabolic acidosis 10.1
26 b-lymphoblastic leukemia/lymphoma 10.1
27 acute leukemia 10.1
28 hereditary spherocytosis 10.1
29 congenital dyserythropoietic anemia 10.1
30 papilledema 10.1
31 thrombocytopenia due to platelet alloimmunization 10.1
32 thrombocytopenia 10.1
33 iron metabolism disease 10.1
34 agammaglobulinemia 10.1
35 transient hypogammaglobulinemia 10.1
36 sideroblastic anemia 10.1
37 aregenerative anemia 10.1
38 dermatitis, atopic 10.1
39 embryonal carcinoma 10.1
40 hashimoto thyroiditis 10.0
41 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
42 helix syndrome 10.0
43 rapidly involuting congenital hemangioma 10.0
44 thyroiditis 10.0
45 alopecia 10.0
46 behcet syndrome 9.9
47 hepatocellular carcinoma 9.9
48 hair whorl 9.9
49 polykaryocytosis inducer 9.9
50 triiodothyronine receptor auxiliary protein 9.9

Graphical network of the top 20 diseases related to Transient Erythroblastopenia of Childhood:



Diseases related to Transient Erythroblastopenia of Childhood

Symptoms & Phenotypes for Transient Erythroblastopenia of Childhood

Human phenotypes related to Transient Erythroblastopenia of Childhood:

31
# Description HPO Frequency HPO Source Accession
1 transient erythroblastopenia 31 HP:0005510

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Heme:
anemia
transient erythroblastopenia

Clinical features from OMIM®:

227050 (Updated 20-May-2021)

Drugs & Therapeutics for Transient Erythroblastopenia of Childhood

Search Clinical Trials , NIH Clinical Center for Transient Erythroblastopenia of Childhood

Genetic Tests for Transient Erythroblastopenia of Childhood

Anatomical Context for Transient Erythroblastopenia of Childhood

MalaCards organs/tissues related to Transient Erythroblastopenia of Childhood:

40
Bone Marrow, Bone, Neutrophil, Thymus, Liver, Lung, Breast

Publications for Transient Erythroblastopenia of Childhood

Articles related to Transient Erythroblastopenia of Childhood:

(show top 50) (show all 100)
# Title Authors PMID Year
1
Familial transient erythroblastopenia of childhood is associated with the chromosome 19q13.2 region but not caused by mutations in coding sequences of the ribosomal protein S19 (RPS19) gene. 57 61
12358933 2002
2
Transient red cell aplasia in siblings: a common environmental or a common hereditary factor? 57 61
9510446 1998
3
Transient erythroblastopenia in siblings. 57
7136690 1982
4
Red cell aplasia in children. 57
453908 1979
5
Transient erythroblastopenia in infancy and childhood. 57
5450690 1970
6
The production of steel factor mRNA in Diamond-Blackfan anaemia long-term cultures and interactions of steel factor with erythropoietin and interleukin-3. 61 54
1282827 1992
7
Comparison of the erythropoietin response in children with aplastic anemia, transient erythroblastopenia, and iron deficiency. 54 61
1552389 1992
8
Dermatological Toxicities of Bruton's Tyrosine Kinase Inhibitors. 61
32613545 2020
9
Transient Erythroblastopenia of Childhood: A Review for the Pediatric Emergency Medicine Physician. 61
30817707 2019
10
Breath-holding spells occur disproportionately more often in children with transient erythroblastopenia. 61
27060698 2016
11
Deformation of erythroblasts in transient erythroblastopenia of childhood caused by HHV-6. 61
28092892 2016
12
Transient erythroblastopenia of childhood is an underdiagnosed and self-limiting disease. 61
24635829 2014
13
Transfusion-dependent anaemia of undetermined origin: a distinctive syndrome in paediatric medical tourism. 61
22892608 2012
14
Concomitant transient erythroblastopenia of childhood with neonatal hepatitis. 61
22335327 2012
15
Ectopic atrial tachycardia in an infant with transient erythroblastopenia of childhood. 61
21730806 2011
16
Transient erythroblastopenia of childhood in siblings: case report and review of the literature. 61
17805047 2007
17
Classic transient erythroblastopenia of childhood with human parvovirus B19 genome detection in the blood and bone marrow. 61
15956889 2005
18
Transient erythroblastopenia of childhood: prospective study of 10 patients with special reference to viral infections. 61
11972099 2002
19
Clinico-haematological profile of pure red cell aplasia in children. 61
12022425 2002
20
[Transient erythroblastopenia in children: assessment of a hospital caseload]. 61
10767984 2000
21
Case of transient erythroblastopenia of childhood with transient hypogammaglobulinemia. 61
10804733 2000
22
Increased erythrocyte deformability in fetal erythropoiesis and in erythrocytes deficient in glucose-6-phosphate dehydrogenase and other glycolytic enzymes. 61
9890617 1999
23
Bone marrow biopsy findings in childhood anemia: prevalence of transient erythroblastopenia of childhood. 61
9674545 1998
24
Unrecognized severe anemia in children presenting with respiratory distress. 61
9672458 1998
25
Transient erythroblastopenia of childhood associated with transient neurologic deficit: report of a case and review of the literature. 61
9633983 1998
26
Clinical value of bone marrow cultures in childhood pure red cell aplasia. 61
9544161 1998
27
[Report of a case of celiac disease associated with transient erythroblastopenia in pediatric age]. 61
9706641 1998
28
[Transient erythroblastopenia in children. Severe anemia with good prognosis]. 61
9411857 1997
29
Transient erythroblastopenia of childhood associated with human herpesvirus type 6, variant B. 61
9260752 1997
30
Breath-holding spells in a patient with transient erythroblastopenia of childhood. 61
9108866 1997
31
Transient erythroblastopenia of childhood (TEC) presenting as leukoerythroblastic anemia. 61
9149751 1997
32
Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort. 61
8826887 1996
33
Polymerase chain reaction amplification of archival material for parvovirus B19 in children with transient erythroblastopenia of childhood. 61
9025846 1996
34
[Transient erythroblastopenia in children; a harmless form of anemia]. 61
8649528 1996
35
Aplastic Anemia, Pediatric Aspects. 61
10388017 1996
36
Glycosylated haemoglobin and transient erythroblastopenia of childhood. 61
8551925 1996
37
Parvovirus: the expanding spectrum of disease. 61
7756792 1995
38
Transient erythroblastopenia of childhood. Prospective study of fifty patients. 61
7978049 1994
39
Transient erythroblastopenia of childhood presenting with shock and metabolic acidosis. 61
7845854 1994
40
Transient erythroblastopenia of childhood in infants < 6 months of age. 61
8037344 1994
41
Transient erythroblastopenia due to human parvovirus B19 infection: a case report of a boy suffering from purpura. 61
8203271 1994
42
Pure red cell anemia with erythropoietic maturation arrest and spontaneous recovery. 61
7985478 1994
43
Transient erythroblastopenia of childhood. Evidence for cell-mediated suppression of erythropoiesis. 61
8214360 1993
44
Transient erythroblastopenia of childhood in Sweden: incidence and findings at the time of diagnosis. 61
8338993 1993
45
Transient erythroblastopenia of childhood presenting with echovirus 11 infection. 61
8518530 1993
46
Parvovirus B19 and transient erythroblastopenia of childhood. 61
8518188 1993
47
A regional experience of red cell aplasia. 61
8482277 1993
48
Mechanism of red blood cell aging: relationship of cell density and cell age. 61
8416296 1993
49
Age dependency of red blood cell deformability and density: studies in transient erythroblastopenia of childhood. 61
8435319 1993
50
Effect of stem cell factor on in vitro erythropoiesis in patients with bone marrow failure syndromes. 61
1281683 1992

Variations for Transient Erythroblastopenia of Childhood

Expression for Transient Erythroblastopenia of Childhood

Search GEO for disease gene expression data for Transient Erythroblastopenia of Childhood.

Pathways for Transient Erythroblastopenia of Childhood

GO Terms for Transient Erythroblastopenia of Childhood

Biological processes related to Transient Erythroblastopenia of Childhood according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.16 TEC KITLG
2 erythrocyte differentiation GO:0030218 8.96 RPS19 EPO
3 positive regulation of Ras protein signal transduction GO:0046579 8.62 KITLG EPO

Sources for Transient Erythroblastopenia of Childhood

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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