THC6
MCID: THR110
MIFTS: 22

Thrombocytopenia 6 (THC6)

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

Aliases & Classifications for Thrombocytopenia 6

MalaCards integrated aliases for Thrombocytopenia 6:

Name: Thrombocytopenia 6 58 76 30 6
Thrombocytopenia, Autosomal Dominant, 6 58 76
Thc6 58 76
Hereditary Thrombocytopenia with Early-Onset Myelofibrosis 60

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
one family has been reported (last curated may 2016)


HPO:

33
thrombocytopenia 6:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Thrombocytopenia 6

OMIM : 58 Thrombocytopenia-6 is an autosomal dominant hematologic disorder characterized by increased bleeding episodes due to reduced platelet count and abnormal platelet morphology resulting from defective megakaryopoiesis. Patients may also have bone abnormalities, including osteoporosis or tooth loss, as well as an increased risk for myelofibrosis (summary by Turro et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see 313900. (616937)

MalaCards based summary : Thrombocytopenia 6, is also known as thrombocytopenia, autosomal dominant, 6. An important gene associated with Thrombocytopenia 6 is SRC (SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase). Affiliated tissues include eye and bone marrow, and related phenotypes are osteoporosis and thrombocytopenia

UniProtKB/Swiss-Prot : 76 Thrombocytopenia 6: A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC6 is an autosomal dominant form. Affected individuals may also have bone abnormalities and an increased risk for myelofibrosis.

Related Diseases for Thrombocytopenia 6

Symptoms & Phenotypes for Thrombocytopenia 6

Human phenotypes related to Thrombocytopenia 6:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 osteoporosis 33 occasional (7.5%) HP:0000939
2 thrombocytopenia 33 HP:0001873
3 deeply set eye 33 HP:0000490
4 large forehead 33 HP:0002003
5 hypotelorism 33 HP:0000601
6 spontaneous, recurrent epistaxis 33 HP:0004406
7 bone marrow hypercellularity 33 HP:0031020
8 myelofibrosis 33 HP:0011974

Symptoms via clinical synopsis from OMIM:

58
Hematology:
thrombocytopenia
enlarged platelets
increased bleeding
some platelets lack alpha-granules
defective megakaryopoiesis
more
Head And Neck Nose:
epistaxis
widely spaced nostrils

Skeletal:
osteoporosis (in some patients)

Head And Neck Face:
large forehead

Head And Neck Eyes:
deep-set eyes
hypotelorism, mild

Head And Neck Teeth:
edentulism, premature

Clinical features from OMIM:

616937

Drugs & Therapeutics for Thrombocytopenia 6

Search Clinical Trials , NIH Clinical Center for Thrombocytopenia 6

Genetic Tests for Thrombocytopenia 6

Genetic tests related to Thrombocytopenia 6:

# Genetic test Affiliating Genes
1 Thrombocytopenia 6 30 SRC

Anatomical Context for Thrombocytopenia 6

MalaCards organs/tissues related to Thrombocytopenia 6:

42
Eye, Bone Marrow

Publications for Thrombocytopenia 6

Articles related to Thrombocytopenia 6:

# Title Authors Year
1
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies. ( 26936507 )
2016
2
Thc6 protein, isolated from Trichoderma harzianum, can induce maize defense response against Curvularia lunata. ( 24771614 )
2015

Variations for Thrombocytopenia 6

UniProtKB/Swiss-Prot genetic disease variations for Thrombocytopenia 6:

76
# Symbol AA change Variation ID SNP ID
1 SRC p.Glu527Lys VAR_076919 rs879255268

ClinVar genetic disease variations for Thrombocytopenia 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SRC NM_198291.2(SRC): c.1579G> A (p.Glu527Lys) single nucleotide variant Pathogenic rs879255268 GRCh37 Chromosome 20, 36031750: 36031750
2 SRC NM_198291.2(SRC): c.1579G> A (p.Glu527Lys) single nucleotide variant Pathogenic rs879255268 GRCh38 Chromosome 20, 37403347: 37403347

Expression for Thrombocytopenia 6

Search GEO for disease gene expression data for Thrombocytopenia 6.

Pathways for Thrombocytopenia 6

GO Terms for Thrombocytopenia 6

Sources for Thrombocytopenia 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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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