MCID: THR098
MIFTS: 12

Thrombocythemia, X-Linked

Categories: Blood diseases

Aliases & Classifications for Thrombocythemia, X-Linked

MalaCards integrated aliases for Thrombocythemia, X-Linked:

Name: Thrombocythemia, X-Linked 57 13 73
Thrombocytosis, X-Linked 57
Thcytx 57

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive


HPO:

32
thrombocythemia, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 300331
MedGen 42 C1845888
UMLS 73 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 thrombocytosis

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 9.8

Symptoms & Phenotypes for Thrombocythemia, X-Linked

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
hepatomegaly

Hematology:
thrombocytosis

AbdomenSpleen:
splenomegaly


Clinical features from OMIM:

300331

Human phenotypes related to Thrombocythemia, X-Linked:

32
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 thrombocytosis 32 HP:0001894
3 hepatomegaly 32 HP:0002240

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 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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