MCID: CHR673
MIFTS: 16

Chromosome 14q32 Duplication Syndrome, 700-Kb

Categories: Fetal diseases, Blood diseases, Rare diseases, Cancer diseases, Genetic 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 59
Myeloproliferative Neoplasms, Familial, Susceptibility to 57
Myeloproliferative Neoplasms, Familial 57
14q32 Duplication Syndrome 59
Trisomy 14q32 59
Dup(14)q(32) 59

Characteristics:

OMIM:

57
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:

32
chromosome 14q32 duplication syndrome, 700-kb:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM 57 616604
Orphanet 59 ORPHA488280
MedGen 42 C4225449

Summaries for Chromosome 14q32 Duplication Syndrome, 700-Kb

MalaCards based summary : Chromosome 14q32 Duplication Syndrome, 700-Kb, is also known as predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication. 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

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

Symptoms via clinical synopsis from OMIM:

57
Hematology:
essential thrombocythemia

Neoplasia:
myeloproliferative neoplasms
myelofibrosis
myeloid leukemia
myelomonocytic leukemia


Clinical features from OMIM:

616604

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

32
# Description HPO Frequency HPO Source Accession
1 myelofibrosis 32 HP:0011974
2 myeloid leukemia 32 HP:0012324

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:

41
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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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