MCID: PRX013
MIFTS: 17

Proximal Chromosome 18q Deletion Syndrome

Categories: Rare diseases

Aliases & Classifications for Proximal Chromosome 18q Deletion Syndrome

MalaCards integrated aliases for Proximal Chromosome 18q Deletion Syndrome:

Name: Proximal Chromosome 18q Deletion Syndrome 53
Proximal 18q Deletion Syndrome 53 25
Chromosome 18 Long Arm Deletion Syndrome 25
Deletion of Long Arm of Chromosome 18 72
Chromosome 18 Deletion Syndrome 25
Chromosome 18, Monosomy 18q 72
Chromosome 18q- Syndrome 25
Chromosome 18q Monosomy 25
Monosomy 18q Syndrome 53
Proximal 18q Deletion 53
18q Deletion Syndrome 25
18q- Syndrome 25
Del Syndrome 25
Proximal 18q- 53
Monosomy 18q 25

Classifications:



External Ids:

UMLS 72 C0432443 C2931249

Summaries for Proximal Chromosome 18q Deletion Syndrome

NIH Rare Diseases : 53 Proximal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material from the part of the long (q) arm near the center 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 proximal chromosome 18q deletion syndrome include developmental delay, intellectual disability, and distinctive facial features. The might also have seizures, low muscle tone (hypotonia), speech and language delays, obesity, and short stature. 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 a 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 proximal 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 FAQs About Chromosome Disorders.

MalaCards based summary : Proximal Chromosome 18q Deletion Syndrome, also known as proximal 18q deletion syndrome, is related to chromosome 18q deletion syndrome and distal chromosome 18q deletion syndrome, and has symptoms including seizures and tremor. Affiliated tissues include testes and heart.

Genetics Home Reference : 25 Proximal 18q deletion syndrome is a chromosomal condition that occurs when a piece of the long (q) arm of chromosome 18 is missing. The term "proximal" means that the missing piece occurs near the center of the chromosome. Individuals with proximal 18q deletion syndrome have a wide variety of signs and symptoms. Because only a small number of people are known to have this type of deletion, it can be difficult to determine which features should be considered characteristic of the disorder. Most people with proximal 18q deletion syndrome have delayed development of skills such as sitting, crawling, walking, and speaking, and intellectual disability that can range from mild to severe. In particular, vocabulary and the production of speech (expressive language skills) may be delayed. Recurrent seizures (epilepsy) and weak muscle tone (hypotonia) often occur in this disorder. Affected individuals also frequently have behavioral problems such as hyperactivity, aggression, and features of autism spectrum disorder that affect communication and social interaction.

Related Diseases for Proximal Chromosome 18q Deletion Syndrome

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

(show top 50) (show all 111)
# Related Disease Score Top Affiliating Genes
1 chromosome 18q deletion syndrome 11.3
2 distal chromosome 18q deletion syndrome 11.3
3 wolf-hirschhorn syndrome 11.0
4 chromosome 3p deletion 11.0
5 chromosome 3p- syndrome 11.0
6 heart septal defect 10.2
7 chromosome 18p duplication 10.2
8 chromosome 4p duplication 10.2
9 atrial heart septal defect 10.1
10 thyroiditis 10.1
11 chromosomal triplication 10.1
12 hashimoto thyroiditis 10.1
13 pernicious anemia 10.1
14 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
15 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
16 deficiency anemia 10.1
17 growth hormone deficiency 10.1
18 anorectal anomalies 10.0
19 papillomatosis, confluent and reticulated 10.0
20 chromosome 2q35 duplication syndrome 10.0
21 retinitis pigmentosa 11 10.0
22 umbilical hernia 10.0
23 dermatitis 10.0
24 aortic coarctation 10.0
25 chromosome 10p duplication 10.0
26 chromosome 10q duplication 10.0
27 chromosome 2q duplication 10.0
28 chromosome 4q duplication 10.0
29 chromosome 5q duplication 10.0
30 chromosome 6p duplication 10.0
31 chromosome 9p duplication 10.0
32 obsolete: duplication 4q 10.0
33 trisomy 1q 10.0
34 complex chromosomal rearrangement 10.0
35 partial deletion of the long arm of chromosome 18 10.0
36 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.0
37 cleft lip 9.9
38 microcephaly 9.9
39 47,xyy 9.9
40 ring chromosome 9.9
41 progressive familial heart block, type ia 9.9
42 immunoglobulin a deficiency 1 9.9
43 wolff-parkinson-white syndrome 9.9
44 ebstein anomaly 9.9
45 immune deficiency disease 9.9
46 lesch-nyhan syndrome 9.9
47 branchiootic syndrome 1 9.9
48 progressive familial heart block, type ib 9.9
49 aural atresia, congenital 9.9
50 leukemia, acute lymphoblastic 9.9

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



Diseases related to Proximal Chromosome 18q Deletion Syndrome

Symptoms & Phenotypes for Proximal Chromosome 18q Deletion Syndrome

UMLS symptoms related to Proximal Chromosome 18q Deletion Syndrome:


seizures, tremor

Drugs & Therapeutics for Proximal Chromosome 18q Deletion Syndrome

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

Genetic Tests for Proximal Chromosome 18q Deletion Syndrome

Anatomical Context for Proximal Chromosome 18q Deletion Syndrome

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

41
Testes, Heart

Publications for Proximal Chromosome 18q Deletion Syndrome

Articles related to Proximal Chromosome 18q Deletion Syndrome:

# Title Authors PMID Year
1
Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects. 38
31390163 2019

Variations for Proximal Chromosome 18q Deletion Syndrome

Expression for Proximal Chromosome 18q Deletion Syndrome

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

Pathways for Proximal Chromosome 18q Deletion Syndrome

GO Terms for Proximal Chromosome 18q Deletion Syndrome

Sources for Proximal Chromosome 18q Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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