MCID: CHR271
MIFTS: 15

Chromosome 9q Deletion

Categories: Rare diseases

Aliases & Classifications for Chromosome 9q Deletion

MalaCards integrated aliases for Chromosome 9q Deletion:

Name: Chromosome 9q Deletion 54
Partial Monosomy 9q 54
9q Deletion 54
9q Monosomy 54
Deletion 9q 54
Monosomy 9q 54

Classifications:



Summaries for Chromosome 9q Deletion

NIH Rare Diseases : 54 Chromosome 9q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 9. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 9q deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 9q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 9. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.

MalaCards based summary : Chromosome 9q Deletion, also known as partial monosomy 9q, is related to kleefstra syndrome and leukemia. An important gene associated with Chromosome 9q Deletion is EHMT1 (Euchromatic Histone Lysine Methyltransferase 1). Affiliated tissues include testes and myeloid.

Related Diseases for Chromosome 9q Deletion

Diseases related to Chromosome 9q Deletion via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 kleefstra syndrome 11.7
2 leukemia 10.3
3 leukemia, acute myeloid 10.1
4 myeloid leukemia 10.1
5 infantile myofibromatosis 10.1
6 chromosomal triplication 10.1
7 lymphoma, hodgkin, classic 9.9
8 lymphoma, non-hodgkin, familial 9.9
9 leukemia, chronic myeloid 9.9
10 myelodysplastic syndrome 9.9
11 acute leukemia 9.9
12 lymphoma 9.9
13 sarcoma 9.9
14 myeloid sarcoma 9.9
15 splenomegaly 9.9
16 trisomy 22 9.9
17 autosomal dominant disease 9.7 EHMT1 PTCH1

Graphical network of the top 20 diseases related to Chromosome 9q Deletion:



Diseases related to Chromosome 9q Deletion

Symptoms & Phenotypes for Chromosome 9q Deletion

Drugs & Therapeutics for Chromosome 9q Deletion

Search Clinical Trials , NIH Clinical Center for Chromosome 9q Deletion

Genetic Tests for Chromosome 9q Deletion

Anatomical Context for Chromosome 9q Deletion

MalaCards organs/tissues related to Chromosome 9q Deletion:

42
Testes, Myeloid

Publications for Chromosome 9q Deletion

Articles related to Chromosome 9q Deletion:

# Title Authors Year
1
NBCCS secondary to an interstitial chromosome 9q deletion. ( 15347344 )
2004

Variations for Chromosome 9q Deletion

Copy number variations for Chromosome 9q Deletion from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 39192 10 111746097 111885313 Deletion ADD3 9q deletion syndrome
2 248683 9 136600000 140273252 Deletion EHMT 9q deletion syndrome
3 249302 9 139596351 139604758 Deletion ZMYND19 9q deletion syndrome
4 249305 9 139619916 139629633 Deletion ARRDC1 9q deletion syndrome
5 249311 9 139629609 139633070 Deletion C9orf37 9q deletion syndrome
6 249315 9 139633264 139850399 Deletion EHMT1 9q deletion syndrome
7 249342 9 139892061 140136452 Deletion CACNA1B 9q deletion syndrome

Expression for Chromosome 9q Deletion

Search GEO for disease gene expression data for Chromosome 9q Deletion.

Pathways for Chromosome 9q Deletion

GO Terms for Chromosome 9q Deletion

Biological processes related to Chromosome 9q Deletion according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 8.8 EHMT1 NR1I3 PTCH1

Sources for Chromosome 9q Deletion

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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