MCID: DST011
MIFTS: 19

Distal Chromosome 18q Deletion Syndrome

Categories: Rare diseases

Aliases & Classifications for Distal Chromosome 18q Deletion Syndrome

MalaCards integrated aliases for Distal Chromosome 18q Deletion Syndrome:

Name: Distal Chromosome 18q Deletion Syndrome 49
Deletion of Long Arm of Chromosome 18 28 69
Distal 18q Deletion Syndrome 49 24
Chromosome 18 Long Arm Deletion Syndrome 24
Chromosome 18q Deletion Syndrome 24
Chromosome 18, Monosomy 18q 69
Chromosome 18q- Syndrome 24
Chromosome 18q Monosomy 24
Monosomy 18q Syndrome 49
18q Deletion Syndrome 24
De Grouchy Syndrome 24
Distal 18q Deletion 49
18q- Syndrome 24
Del Syndrome 24
Monosomy 18q 24
Distal 18q- 49

Classifications:



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Summaries for Distal Chromosome 18q Deletion Syndrome

NIH Rare Diseases : 49 Distal chromosome 18q deletionsyndromeis a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18. 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 distal chromosome 18q deletion syndrome 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 distal 18q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 18. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders. Last updated: 2/17/2016

MalaCards based summary : Distal Chromosome 18q Deletion Syndrome, also known as deletion of long arm of chromosome 18, is related to chromosome 18p deletion syndrome and chromosome 18q deletion syndrome, and has symptoms including tremor and seizures. Affiliated tissues include testes.

Genetics Home Reference : 24 Distal 18q deletion syndrome is a chromosomal condition that occurs when a piece of the long (q) arm of chromosome 18 is missing. The term "distal" means that the missing piece occurs near one end of the chromosome. Distal 18q deletion syndrome can lead to a wide variety of signs and symptoms among affected individuals.

Related Diseases for Distal Chromosome 18q Deletion Syndrome

Diseases related to Distal Chromosome 18q Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 18p deletion syndrome 11.4
2 chromosome 18q deletion syndrome 11.3
3 proximal chromosome 18q deletion syndrome 11.1
4 wolf-hirschhorn syndrome 10.6
5 chromosome 3p deletion 10.6
6 rett syndrome 9.9

Graphical network of the top 20 diseases related to Distal Chromosome 18q Deletion Syndrome:



Diseases related to Distal Chromosome 18q Deletion Syndrome

Symptoms & Phenotypes for Distal Chromosome 18q Deletion Syndrome

UMLS symptoms related to Distal Chromosome 18q Deletion Syndrome:


tremor, seizures

Drugs & Therapeutics for Distal Chromosome 18q Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Distal Chromosome 18q Deletion Syndrome

Genetic Tests for Distal Chromosome 18q Deletion Syndrome

Genetic tests related to Distal Chromosome 18q Deletion Syndrome:

# Genetic test Affiliating Genes
1 Deletion of Long Arm of Chromosome 18 28

Anatomical Context for Distal Chromosome 18q Deletion Syndrome

MalaCards organs/tissues related to Distal Chromosome 18q Deletion Syndrome:

38
Testes

Publications for Distal Chromosome 18q Deletion Syndrome

Articles related to Distal Chromosome 18q Deletion Syndrome:

# Title Authors Year
1
Skin manifestations of chromosome 18q deletion syndrome. ( 26122027 )
2015
2
Chromosome 18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiency. ( 25403779 )
2014

Variations for Distal Chromosome 18q Deletion Syndrome

Copy number variations for Distal Chromosome 18q Deletion Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 119688 18 16100000 76117153 Deletion 18q deletion syndrome

Expression for Distal Chromosome 18q Deletion Syndrome

Search GEO for disease gene expression data for Distal Chromosome 18q Deletion Syndrome.

Pathways for Distal Chromosome 18q Deletion Syndrome

GO Terms for Distal Chromosome 18q Deletion Syndrome

Sources for Distal Chromosome 18q Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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