XLTT
MCID: THR051
MIFTS: 23

Thrombocytopenia with Beta-Thalassemia, X-Linked (XLTT)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Thrombocytopenia with Beta-Thalassemia, X-Linked

MalaCards integrated aliases for Thrombocytopenia with Beta-Thalassemia, X-Linked:

Name: Thrombocytopenia with Beta-Thalassemia, X-Linked 57 75 13 40
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis 57 29 6 73
Xltt 57 59 75
Thrombocytopenia Platelet Dysfunction Hemolysis and Imbalanced Globin Synthesis 75
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
beta-thalassemia-x-linked thrombocytopenia syndrome
Inheritance: X-linked recessive;

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
three unrelated families have been reported (last curated june 2012)


HPO:

32
thrombocytopenia with beta-thalassemia, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Thrombocytopenia with Beta-Thalassemia, X-Linked

UniProtKB/Swiss-Prot : 75 Thrombocytopenia with beta-thalassemia, X-linked: An unusual form of thrombocytopenia associated with beta-thalassemia. Patients have splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and unbalanced (hemo)globin chain synthesis resembling that of beta- thalassemia minor.

MalaCards based summary : Thrombocytopenia with Beta-Thalassemia, X-Linked, also known as thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis, is related to porphyria, congenital erythropoietic, and has symptoms including petechiae of skin An important gene associated with Thrombocytopenia with Beta-Thalassemia, X-Linked is GATA1 (GATA Binding Protein 1). Affiliated tissues include bone, bone marrow and skin, and related phenotypes are splenomegaly and anemia

OMIM : 57 XLTT is an X-linked recessive hematologic disorder characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis (summary by Ciovacco et al., 2008 and Millikan et al., 2011). (314050)

Related Diseases for Thrombocytopenia with Beta-Thalassemia, X-Linked

Diseases related to Thrombocytopenia with Beta-Thalassemia, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 porphyria, congenital erythropoietic 11.1

Symptoms & Phenotypes for Thrombocytopenia with Beta-Thalassemia, X-Linked

Symptoms via clinical synopsis from OMIM:

57
Abdomen Spleen:
splenomegaly

Head And Neck Nose:
epistaxis

Skin Nails Hair Hair:
hirsutism (1 patient)

Hematology:
thrombocytopenia
reticulocytosis
prolonged bleeding time
enlarged platelets
increased alpha/beta globin ratio in reticulocytes
more
Skin Nails Hair Skin:
petechiae
easy bruisability
photosensitivity bullous dermatitis (1 patient)

Laboratory Abnormalities:
decreased uros activity (1 patient)


Clinical features from OMIM:

314050

Human phenotypes related to Thrombocytopenia with Beta-Thalassemia, X-Linked:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
2 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
3 abnormal bleeding 59 32 hallmark (90%) Very frequent (99-80%) HP:0001892
4 thrombocytopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001873
5 abnormal hemoglobin 59 32 hallmark (90%) Very frequent (99-80%) HP:0011902
6 abnormal platelet function 59 32 hallmark (90%) Very frequent (99-80%) HP:0011869
7 hemolytic anemia 32 frequent (33%) HP:0001878
8 reticulocytosis 32 HP:0001923
9 epistaxis 32 HP:0000421
10 bruising susceptibility 32 HP:0000978
11 petechiae 32 HP:0000967
12 prolonged bleeding time 32 HP:0003010
13 hirsutism 32 occasional (7.5%) HP:0001007

UMLS symptoms related to Thrombocytopenia with Beta-Thalassemia, X-Linked:


petechiae of skin

Drugs & Therapeutics for Thrombocytopenia with Beta-Thalassemia, X-Linked

Search Clinical Trials , NIH Clinical Center for Thrombocytopenia with Beta-Thalassemia, X-Linked

Genetic Tests for Thrombocytopenia with Beta-Thalassemia, X-Linked

Genetic tests related to Thrombocytopenia with Beta-Thalassemia, X-Linked:

# Genetic test Affiliating Genes
1 Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis 29 GATA1

Anatomical Context for Thrombocytopenia with Beta-Thalassemia, X-Linked

MalaCards organs/tissues related to Thrombocytopenia with Beta-Thalassemia, X-Linked:

41
Bone, Bone Marrow, Skin

Publications for Thrombocytopenia with Beta-Thalassemia, X-Linked

Variations for Thrombocytopenia with Beta-Thalassemia, X-Linked

UniProtKB/Swiss-Prot genetic disease variations for Thrombocytopenia with Beta-Thalassemia, X-Linked:

75
# Symbol AA change Variation ID SNP ID
1 GATA1 p.Arg216Gln VAR_033114 rs104894809

ClinVar genetic disease variations for Thrombocytopenia with Beta-Thalassemia, X-Linked:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GATA1 NM_002049.3(GATA1): c.647G> A (p.Arg216Gln) single nucleotide variant Pathogenic rs104894809 GRCh37 Chromosome X, 48650778: 48650778
2 GATA1 NM_002049.3(GATA1): c.647G> A (p.Arg216Gln) single nucleotide variant Pathogenic rs104894809 GRCh38 Chromosome X, 48792371: 48792371
3 GATA1 NM_002049.3(GATA1): c.646C> T (p.Arg216Trp) single nucleotide variant Pathogenic rs387907207 GRCh37 Chromosome X, 48650777: 48650777
4 GATA1 NM_002049.3(GATA1): c.646C> T (p.Arg216Trp) single nucleotide variant Pathogenic rs387907207 GRCh38 Chromosome X, 48792370: 48792370

Expression for Thrombocytopenia with Beta-Thalassemia, X-Linked

Search GEO for disease gene expression data for Thrombocytopenia with Beta-Thalassemia, X-Linked.

Pathways for Thrombocytopenia with Beta-Thalassemia, X-Linked

GO Terms for Thrombocytopenia with Beta-Thalassemia, X-Linked

Sources for Thrombocytopenia with Beta-Thalassemia, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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