MCID: THR110
MIFTS: 21

Thrombocytopenia 6

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

Aliases & Classifications for Thrombocytopenia 6

MalaCards integrated aliases for Thrombocytopenia 6:

Name: Thrombocytopenia 6 57 75 29 6
Thrombocytopenia, Autosomal Dominant, 6 57 75
Thc6 57 75
Hereditary Thrombocytopenia with Early-Onset Myelofibrosis 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
thrombocytopenia 6:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Thrombocytopenia 6

OMIM : 57 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 bone, eye and bone marrow, and related phenotypes are deeply set eye and hypotelorism

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Thrombocytopenia 6:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 deeply set eye 32 HP:0000490
2 hypotelorism 32 HP:0000601
3 osteoporosis 32 occasional (7.5%) HP:0000939
4 thrombocytopenia 32 HP:0001873
5 large forehead 32 HP:0002003
6 spontaneous, recurrent epistaxis 32 HP:0004406
7 myelofibrosis 32 HP:0011974
8 bone marrow hypercellularity 32 HP:0031020

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 29 SRC

Anatomical Context for Thrombocytopenia 6

MalaCards organs/tissues related to Thrombocytopenia 6:

41
Bone, Eye, Bone Marrow

Publications for Thrombocytopenia 6

Variations for Thrombocytopenia 6

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

75
# 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 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
Content
Loading form....