MCID: CHR673
MIFTS: 16

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 58
Predisposition to Adult-Onset Myeloproliferative Neoplasm Due to 14q32 Duplication 60
Myeloproliferative Neoplasms, Familial, Susceptibility to 58
Myeloproliferative Neoplasms, Familial 58
14q32 Duplication Syndrome 60
Trisomy 14q32 60
Dup(14)q(32) 60

Characteristics:

OMIM:

58
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:

33
chromosome 14q32 duplication syndrome, 700-kb:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 616604
Orphanet 60 ORPHA488280
MedGen 43 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 chromosomal triplication. 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

Description 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 chromosomal triplication 10.0

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

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

33
# Description HPO Frequency HPO Source Accession
1 myelofibrosis 33 HP:0011974
2 myeloid leukemia 33 HP:0012324

Symptoms via clinical synopsis from OMIM:

58
Neoplasia:
myelofibrosis
myeloid leukemia
myeloproliferative neoplasms
myelomonocytic leukemia

Hematology:
essential thrombocythemia

Clinical features from OMIM:

616604

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:

42
Myeloid

Publications for Chromosome 14q32 Duplication Syndrome, 700-Kb

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

# Title Authors Year
1
Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms. ( 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
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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