MCID: LKM073
MIFTS: 11

Leukemia, Acute, X-Linked

Categories: Cancer diseases

Aliases & Classifications for Leukemia, Acute, X-Linked

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

Name: Leukemia, Acute, X-Linked 57 29 6

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
? x-linked form


HPO:

31
leukemia, acute, x-linked:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM® 57 308960
MedGen 41 C3501854
SNOMED-CT via HPO 68 24072005 263934009 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:

31
# Description HPO Frequency HPO Source Accession
1 acute leukemia 31 HP:0002488

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Heme:
acute leukemia
preleukemic blood disease

Clinical features from OMIM®:

308960 (Updated 05-Apr-2021)

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

Genetic tests related to Leukemia, Acute, X-Linked:

# Genetic test Affiliating Genes
1 Leukemia, Acute, ?x-Linked 29

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. 6
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:

6
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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