THAMY
MCID: THR112
MIFTS: 19

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 72 29 6
Thamy 57 72

Characteristics:

OMIM®:

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

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


HPO:

31
thrombocytopenia, anemia, and myelofibrosis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Thrombocytopenia, Anemia, and Myelofibrosis

UniProtKB/Swiss-Prot : 72 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 bone, and related phenotypes are splenomegaly and anemia

More information 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:

31
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 occasional (7.5%) HP:0001744
2 anemia 31 HP:0001903
3 thrombocytopenia 31 HP:0001873
4 myelofibrosis 31 HP:0011974
5 anisopoikilocytosis 31 HP:0004823

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

Genetic tests related to Thrombocytopenia, Anemia, and Myelofibrosis:

# Genetic test Affiliating Genes
1 Thrombocytopenia, Anemia, and Myelofibrosis 29 MPIG6B

Anatomical Context for Thrombocytopenia, Anemia, and Myelofibrosis

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

40
Bone Marrow, Bone

Publications for Thrombocytopenia, Anemia, and Myelofibrosis

Articles related to Thrombocytopenia, Anemia, and Myelofibrosis:

# Title Authors PMID Year
1
Novel G6B gene variant causes familial autosomal recessive thrombocytopenia and anemia. 6
27743390 2017
2
Mice lacking the ITIM-containing receptor G6b-B exhibit macrothrombocytopenia and aberrant platelet function. 57
23112346 2012

Variations for Thrombocytopenia, Anemia, and Myelofibrosis

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MPIG6B NM_025260.3(MPIG6B):c.324C>A (p.Cys108Ter) SNV Pathogenic 417972 rs1060505057 GRCh37: 6:31691678-31691678
GRCh38: 6:31723901-31723901
2 MPIG6B NM_138272.3(MPIG6B):c.149dup (p.Ala52fs) Duplication Pathogenic 993022 GRCh37: 6:31691501-31691502
GRCh38: 6:31723724-31723725
3 MPIG6B NM_138272.3(MPIG6B):c.558C>T (p.Thr186=) SNV Pathogenic 1031438 GRCh37: 6:31692558-31692558
GRCh38: 6:31724781-31724781
4 MPIG6B NM_138272.3(MPIG6B):c.518C>A (p.Pro173Gln) SNV Uncertain significance 1028384 GRCh37: 6:31692381-31692381
GRCh38: 6:31724604-31724604
5 MPIG6B NM_138272.2(MPIG6B):c.248G>A (p.Arg83His) SNV Uncertain significance 828136 rs200855070 GRCh37: 6:31691602-31691602
GRCh38: 6:31723825-31723825

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 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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