MCID: PRT237
MIFTS: 15

Partial Deletion of the Long Arm of Chromosome 16

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Partial Deletion of the Long Arm of Chromosome 16

MalaCards integrated aliases for Partial Deletion of the Long Arm of Chromosome 16:

Name: Partial Deletion of the Long Arm of Chromosome 16 59
Partial Monosomy of the Long Arm of Chromosome 16 59
Partial Deletion of Chromosome 16q 59
Partial Monosomy of Chromosome 16q 59

Classifications:



External Ids:

ICD10 via Orphanet 34 Q93.5
Orphanet 59 ORPHA262128

Summaries for Partial Deletion of the Long Arm of Chromosome 16

MalaCards based summary : Partial Deletion of the Long Arm of Chromosome 16, also known as partial monosomy of the long arm of chromosome 16, is related to acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) and myeloid leukemia. An important gene associated with Partial Deletion of the Long Arm of Chromosome 16 is CBFB (Core-Binding Factor Subunit Beta). Affiliated tissues include bone and bone marrow, and related phenotypes are digestive/alimentary and respiratory system

Related Diseases for Partial Deletion of the Long Arm of Chromosome 16

Diseases related to Partial Deletion of the Long Arm of Chromosome 16 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 29.2 MYH11 CBFB
2 myeloid leukemia 28.9 MYH11 CBFB
3 hypereosinophilic syndrome 10.3
4 chromosome 16q22 deletion syndrome 10.2
5 lymphocytic leukemia 10.1
6 acute myeloblastic leukemia without maturation 10.1
7 leukemia, acute myeloid 9.5 MYH11 CBFB

Graphical network of the top 20 diseases related to Partial Deletion of the Long Arm of Chromosome 16:



Diseases related to Partial Deletion of the Long Arm of Chromosome 16

Symptoms & Phenotypes for Partial Deletion of the Long Arm of Chromosome 16

MGI Mouse Phenotypes related to Partial Deletion of the Long Arm of Chromosome 16:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 8.96 CBFB MYH11
2 respiratory system MP:0005388 8.62 CBFB MYH11

Drugs & Therapeutics for Partial Deletion of the Long Arm of Chromosome 16

Search Clinical Trials , NIH Clinical Center for Partial Deletion of the Long Arm of Chromosome 16

Genetic Tests for Partial Deletion of the Long Arm of Chromosome 16

Anatomical Context for Partial Deletion of the Long Arm of Chromosome 16

MalaCards organs/tissues related to Partial Deletion of the Long Arm of Chromosome 16:

41
Bone, Bone Marrow

Publications for Partial Deletion of the Long Arm of Chromosome 16

Articles related to Partial Deletion of the Long Arm of Chromosome 16:

# Title Authors PMID Year
1
Case of chronic eosinophilic leukemia with deletion of chromosome 16 and hepatitis C. 38
16916138 2006
2
CBFB/MYH11 fusion transcripts in a case of acute myelogenous leukemia (M1) with partial deletion of the long arm of chromosome 16. 38
8739792 1996
3
[Syndrome of partial monosomy of the long arm of chromosome 16]. 38
3822708 1986
4
Association of partial deletion of the long arm of chromosome 16 and bone marrow eosinophilia in acute non-lymphocytic leukemia. 38
6576818 1983
5
Partial deletion of the long arm of chromosome 16 and bone marrow eosinophilia in acute nonlymphocytic leukemia: a new association. 38
6831056 1983
6
Partial monosomy of the long arm of chromosome 16: a distinct clinical entity? 38
429002 1979
7
Partial monosomy of the long arm of chromosome 16 in a malformed newborn: karyotype 46,XX,del(16))q21). 38
914282 1977

Variations for Partial Deletion of the Long Arm of Chromosome 16

Expression for Partial Deletion of the Long Arm of Chromosome 16

Search GEO for disease gene expression data for Partial Deletion of the Long Arm of Chromosome 16.

Pathways for Partial Deletion of the Long Arm of Chromosome 16

GO Terms for Partial Deletion of the Long Arm of Chromosome 16

Sources for Partial Deletion of the Long Arm of Chromosome 16

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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