MCID: CHR673
MIFTS: 17

Chromosome 14q32 Duplication Syndrome, 700-Kb

Categories: Blood diseases, Cancer diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 14q32 Duplication Syndrome, 700-Kb

MalaCards integrated aliases for Chromosome 14q32 Duplication Syndrome, 700-Kb:

Name: Chromosome 14q32 Duplication Syndrome, 700-Kb 57
Predisposition to Adult-Onset Myeloproliferative Neoplasm Due to 14q32 Duplication 58
Myeloproliferative Neoplasms, Familial, Susceptibility to 57
Myeloproliferative Neoplasms, Familial 57
14q32 Duplication Syndrome 58
Trisomy 14q32 58
Dup(14)q(32) 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in mid-forties
incomplete penetrance (about 80%)
genes involved in duplication include atg2b , gskip , tcl1a , bdkrb1 , bdkrb2 , and ak7


HPO:

31
chromosome 14q32 duplication syndrome, 700-kb:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis
Rare haematological diseases


External Ids:

OMIM® 57 616604
Orphanet 58 ORPHA488280
MedGen 41 C4225449

Summaries for Chromosome 14q32 Duplication Syndrome, 700-Kb

MalaCards based summary : Chromosome 14q32 Duplication Syndrome, 700-Kb, also known as predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication, is related to hypertelorism and corpus callosum, partial agenesis of, x-linked. An important gene associated with Chromosome 14q32 Duplication Syndrome, 700-Kb is DUP14Q32 (Myeloproliferative Neoplasms, Familial, Susceptibility To). Affiliated tissues include myeloid, and related phenotypes are myelofibrosis and myeloid leukemia

More information from OMIM: 616604

Related Diseases for Chromosome 14q32 Duplication Syndrome, 700-Kb

Diseases related to Chromosome 14q32 Duplication Syndrome, 700-Kb via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypertelorism 9.9
2 corpus callosum, partial agenesis of, x-linked 9.9
3 myelomeningocele 9.9
4 ventricular septal defect 9.9
5 chromosomal triplication 9.9
6 chromosome 14q duplication 9.9

Graphical network of the top 20 diseases related to Chromosome 14q32 Duplication Syndrome, 700-Kb:



Diseases related to Chromosome 14q32 Duplication Syndrome, 700-Kb

Symptoms & Phenotypes for Chromosome 14q32 Duplication Syndrome, 700-Kb

Human phenotypes related to Chromosome 14q32 Duplication Syndrome, 700-Kb:

31
# Description HPO Frequency HPO Source Accession
1 myelofibrosis 31 HP:0011974
2 myeloid leukemia 31 HP:0012324

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neoplasia:
myelofibrosis
myeloid leukemia
myeloproliferative neoplasms
myelomonocytic leukemia

Hematology:
essential thrombocythemia

Clinical features from OMIM®:

616604 (Updated 20-May-2021)

Drugs & Therapeutics for Chromosome 14q32 Duplication Syndrome, 700-Kb

Search Clinical Trials , NIH Clinical Center for Chromosome 14q32 Duplication Syndrome, 700-Kb

Genetic Tests for Chromosome 14q32 Duplication Syndrome, 700-Kb

Anatomical Context for Chromosome 14q32 Duplication Syndrome, 700-Kb

MalaCards organs/tissues related to Chromosome 14q32 Duplication Syndrome, 700-Kb:

40
Myeloid

Publications for Chromosome 14q32 Duplication Syndrome, 700-Kb

Articles related to Chromosome 14q32 Duplication Syndrome, 700-Kb:

# Title Authors PMID Year
1
Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies. 57
26280900 2015
2
Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms. 61
12239715 2002

Variations for Chromosome 14q32 Duplication Syndrome, 700-Kb

Expression for Chromosome 14q32 Duplication Syndrome, 700-Kb

Search GEO for disease gene expression data for Chromosome 14q32 Duplication Syndrome, 700-Kb.

Pathways for Chromosome 14q32 Duplication Syndrome, 700-Kb

GO Terms for Chromosome 14q32 Duplication Syndrome, 700-Kb

Sources for Chromosome 14q32 Duplication Syndrome, 700-Kb

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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