THAMY
MCID: THR112
MIFTS: 14

Thrombocytopenia, Anemia, and Myelofibrosis (THAMY)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Thrombocytopenia, Anemia, and Myelofibrosis

MalaCards integrated aliases for Thrombocytopenia, Anemia, and Myelofibrosis:

Name: Thrombocytopenia, Anemia, and Myelofibrosis 58 76 6
Thamy 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
no major bleeding episodes
one consanguineous arab family has been reported (last curated april 2017)


HPO:

33
thrombocytopenia, anemia, and myelofibrosis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Thrombocytopenia, Anemia, and Myelofibrosis

UniProtKB/Swiss-Prot : 76 Thrombocytopenia, anemia, and myelofibrosis: An autosomal recessive disorder characterized by thrombocytopenia, increased number of giant platelets, and anemia manifesting in early childhood. Bone marrow biopsy shows increased number of megakaryocytes and reticular fibrosis consistent with myelofibrosis.

MalaCards based summary : Thrombocytopenia, Anemia, and Myelofibrosis, is also known as thamy. An important gene associated with Thrombocytopenia, Anemia, and Myelofibrosis is MPIG6B (Megakaryocyte And Platelet Inhibitory Receptor G6b). Affiliated tissues include bone marrow, and related phenotypes are splenomegaly and anemia

Description from OMIM: 617441

Related Diseases for Thrombocytopenia, Anemia, and Myelofibrosis

Symptoms & Phenotypes for Thrombocytopenia, Anemia, and Myelofibrosis

Human phenotypes related to Thrombocytopenia, Anemia, and Myelofibrosis:

33
# Description HPO Frequency HPO Source Accession
1 splenomegaly 33 occasional (7.5%) HP:0001744
2 anemia 33 HP:0001903
3 thrombocytopenia 33 HP:0001873
4 myelofibrosis 33 HP:0011974
5 anisopoikilocytosis 33 HP:0004823

Symptoms via clinical synopsis from OMIM:

58
Hematology:
anemia
thrombocytopenia
anisopoikilocytosis
enlarged platelets
bone marrow shows myelofibrosis

Skin Nails Hair Skin:
increased bruising

Abdomen Spleen:
splenomegaly (in some patients)

Clinical features from OMIM:

617441

Drugs & Therapeutics for Thrombocytopenia, Anemia, and Myelofibrosis

Search Clinical Trials , NIH Clinical Center for Thrombocytopenia, Anemia, and Myelofibrosis

Genetic Tests for Thrombocytopenia, Anemia, and Myelofibrosis

Anatomical Context for Thrombocytopenia, Anemia, and Myelofibrosis

MalaCards organs/tissues related to Thrombocytopenia, Anemia, and Myelofibrosis:

42
Bone Marrow

Publications for Thrombocytopenia, Anemia, and Myelofibrosis

Articles related to Thrombocytopenia, Anemia, and Myelofibrosis:

# Title Authors Year
1
Novel G6B gene variant causes familial autosomal recessive thrombocytopenia and anemia. ( 27743390 )
2017

Variations for Thrombocytopenia, Anemia, and Myelofibrosis

ClinVar genetic disease variations for Thrombocytopenia, Anemia, and Myelofibrosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MPIG6B NM_025260.3(MPIG6B): c.324C> A (p.Cys108Ter) single nucleotide variant Pathogenic rs1060505057 GRCh37 Chromosome 6, 31691678: 31691678
2 MPIG6B NM_025260.3(MPIG6B): c.324C> A (p.Cys108Ter) single nucleotide variant Pathogenic rs1060505057 GRCh38 Chromosome 6, 31723901: 31723901

Expression for Thrombocytopenia, Anemia, and Myelofibrosis

Search GEO for disease gene expression data for Thrombocytopenia, Anemia, and Myelofibrosis.

Pathways for Thrombocytopenia, Anemia, and Myelofibrosis

GO Terms for Thrombocytopenia, Anemia, and Myelofibrosis

Sources for Thrombocytopenia, Anemia, and Myelofibrosis

3 CDC
7 CNVD
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10 dbSNP
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17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
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33 HPO
34 ICD10
35 ICD10 via Orphanet
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50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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