MCID: THR098
MIFTS: 11

Thrombocythemia, X-Linked

Categories: Blood diseases

Aliases & Classifications for Thrombocythemia, X-Linked

MalaCards integrated aliases for Thrombocythemia, X-Linked:

Name: Thrombocythemia, X-Linked 58 13 74
Thrombocytosis, X-Linked 58
Thcytx 58

Characteristics:

OMIM:

58
Inheritance:
x-linked recessive


HPO:

33
thrombocythemia, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 58 300331
MedGen 43 C1845888
UMLS 74 C1845888

Summaries for Thrombocythemia, X-Linked

MalaCards based summary : Thrombocythemia, X-Linked, also known as thrombocytosis, x-linked, is related to thrombocytopenia. An important gene associated with Thrombocythemia, X-Linked is THCYTX (Thrombocytosis, Familial X-Linked). Related phenotypes are splenomegaly and hepatomegaly

Description from OMIM: 300331

Related Diseases for Thrombocythemia, X-Linked

Diseases related to Thrombocythemia, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 thrombocytopenia 10.0

Symptoms & Phenotypes for Thrombocythemia, X-Linked

Human phenotypes related to Thrombocythemia, X-Linked:

33
# Description HPO Frequency HPO Source Accession
1 splenomegaly 33 HP:0001744
2 hepatomegaly 33 HP:0002240
3 thrombocytosis 33 HP:0001894

Symptoms via clinical synopsis from OMIM:

58
Abdomen Spleen:
splenomegaly

Hematology:
thrombocytosis

Abdomen Liver:
hepatomegaly

Clinical features from OMIM:

300331

Drugs & Therapeutics for Thrombocythemia, X-Linked

Search Clinical Trials , NIH Clinical Center for Thrombocythemia, X-Linked

Genetic Tests for Thrombocythemia, X-Linked

Anatomical Context for Thrombocythemia, X-Linked

Publications for Thrombocythemia, X-Linked

Variations for Thrombocythemia, X-Linked

Expression for Thrombocythemia, X-Linked

Search GEO for disease gene expression data for Thrombocythemia, X-Linked.

Pathways for Thrombocythemia, X-Linked

GO Terms for Thrombocythemia, X-Linked

Sources for Thrombocythemia, X-Linked

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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