MCID: LKM073
MIFTS: 8

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 58 30 6

Characteristics:

OMIM:

58
Inheritance:
? x-linked form


HPO:

33
leukemia, acute, x-linked:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 58 308960
MedGen 43 C3501854
SNOMED-CT via HPO 70 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.

Description 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:

33
# Description HPO Frequency HPO Source Accession
1 acute leukemia 33 HP:0002488

Symptoms via clinical synopsis from OMIM:

58
Heme:
acute leukemia
preleukemic blood disease

Clinical features from OMIM:

308960

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 30

Anatomical Context for Leukemia, Acute, X-Linked

Publications for Leukemia, Acute, X-Linked

Variations for Leukemia, Acute, X-Linked

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 JAK1 NM_002227.3(JAK1): c.1972G> T (p.Val658Phe) single nucleotide variant Likely pathogenic rs1057519753 GRCh38 Chromosome 1, 64846664: 64846664
2 JAK1 NM_002227.3(JAK1): c.1972G> T (p.Val658Phe) single nucleotide variant Likely pathogenic rs1057519753 GRCh37 Chromosome 1, 65312347: 65312347

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
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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