MCID: DST011
MIFTS: 22

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 54
Deletion of Long Arm of Chromosome 18 30 74
Distal 18q Deletion Syndrome 54 26
Chromosome 18 Long Arm Deletion Syndrome 26
Chromosome 18q Deletion Syndrome 26
Chromosome 18, Monosomy 18q 74
Chromosome 18q- Syndrome 26
Chromosome 18q Monosomy 26
Monosomy 18q Syndrome 54
18q Deletion Syndrome 26
De Grouchy Syndrome 26
Distal 18q Deletion 54
18q- Syndrome 26
Del Syndrome 26
Monosomy 18q 26
Distal 18q- 54

Classifications:



External Ids:

Summaries for Distal Chromosome 18q Deletion Syndrome

NIH Rare Diseases : 54 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.

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

Genetics Home Reference : 26 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.

Wikipedia : 77 Distal 18q- is a genetic condition caused by a deletion of genetic material within one of the two copies... more...

Related Diseases for Distal Chromosome 18q Deletion Syndrome

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:


seizures, tremor

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 30

Anatomical Context for Distal Chromosome 18q Deletion Syndrome

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

42
Testes, Skin

Publications for Distal Chromosome 18q Deletion Syndrome

Articles related to Distal Chromosome 18q Deletion Syndrome:

# Title Authors Year
1
Atrial septal defect can be easily missed in chromosome 18q deletion syndrome. ( 30263129 )
2018
2
Skin manifestations of chromosome 18q deletion syndrome. ( 26122027 )
2015
3
Chromosome 18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiency. ( 25403779 )
2014

Variations for Distal Chromosome 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
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
Content
Loading form....