MCID: LKM073
MIFTS: 10

Leukemia, Acute, X-Linked

Categories: Cancer diseases
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Aliases & Classifications for Leukemia, Acute, X-Linked

MalaCards integrated aliases for Leukemia, Acute, X-Linked:

Name: Leukemia, Acute, X-Linked 57 5

Characteristics:


Inheritance:

? X-linked form 57

Classifications:



External Ids:

OMIM® 57 308960
MedGen 40 C3501854
SNOMED-CT via HPO 69 24072005 91855006

Summaries for Leukemia, Acute, X-Linked

MalaCards based summary: Leukemia, Acute, X-Linked An important gene associated with Leukemia, Acute, X-Linked is JAK1 (Janus Kinase 1). Related phenotype is acute leukemia.

More information from OMIM: 308960

Related Diseases for Leukemia, Acute, X-Linked

Symptoms & Phenotypes for Leukemia, Acute, X-Linked

Human phenotypes related to Leukemia, Acute, X-Linked:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 acute leukemia 30 HP:0002488

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Heme:
acute leukemia
preleukemic blood disease

Clinical features from OMIM®:

308960 (Updated 08-Dec-2022)

Drugs & Therapeutics for Leukemia, Acute, X-Linked

Search Clinical Trials, NIH Clinical Center for Leukemia, Acute, X-Linked

Genetic Tests for Leukemia, Acute, X-Linked

Anatomical Context for Leukemia, Acute, X-Linked

Publications for Leukemia, Acute, X-Linked

Articles related to Leukemia, Acute, X-Linked:

# Title Authors PMID Year
1
Acute lymphoblastic leukemia-associated JAK1 mutants activate the Janus kinase/STAT pathway via interleukin-9 receptor alpha homodimers. 5
19139102 2009
2
Acute leukemia and preleukemia in eight males in a family: an X-linked disorder? 57
453196 1979

Variations for Leukemia, Acute, X-Linked

ClinVar genetic disease variations for Leukemia, Acute, X-Linked:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 JAK1 NM_002227.4(JAK1):c.1972G>T (p.Val658Phe) SNV Likely Pathogenic
376030 rs1057519753 GRCh37: 1:65312347-65312347
GRCh38: 1:64846664-64846664

Expression for Leukemia, Acute, X-Linked

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

Pathways for Leukemia, Acute, X-Linked

GO Terms for Leukemia, Acute, X-Linked

Sources for Leukemia, Acute, X-Linked

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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