THAMY
MCID: THR112
MIFTS: 15

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 57 75 6
Thamy 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
thrombocytopenia, anemia, and myelofibrosis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Thrombocytopenia, Anemia, and Myelofibrosis

UniProtKB/Swiss-Prot : 75 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 and 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Thrombocytopenia, Anemia, and Myelofibrosis:

32
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 occasional (7.5%) HP:0001744
2 anemia 32 HP:0001903
3 thrombocytopenia 32 HP:0001873
4 myelofibrosis 32 HP:0011974
5 anisopoikilocytosis 32 HP:0004823

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:

41
Bone, Bone Marrow

Publications for Thrombocytopenia, Anemia, and Myelofibrosis

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
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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