MCID: PRX013
MIFTS: 19

Proximal Chromosome 18q Deletion Syndrome

Categories: Muscle diseases, 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 20
Chromosome 18 Deletion Syndrome 43 6
Proximal 18q Deletion Syndrome 20 43
Chromosome 18 Long Arm Deletion Syndrome 43
Deletion of Long Arm of Chromosome 18 70
Chromosome 18, Monosomy 18q 70
Chromosome 18q- Syndrome 43
Chromosome 18q Monosomy 43
Monosomy 18q Syndrome 20
Proximal 18q Deletion 20
18q Deletion Syndrome 43
18q- Syndrome 43
Del Syndrome 43
Proximal 18q- 20
Monosomy 18q 43

Classifications:



External Ids:

UMLS 70 C0432443 C2931249

Summaries for Proximal Chromosome 18q Deletion Syndrome

GARD : 20 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 chromosome 18 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 heart and kidney.

MedlinePlus Genetics : 43 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 113)
# Related Disease Score Top Affiliating Genes
1 chromosome 18q deletion syndrome 11.2
2 distal chromosome 18q deletion syndrome 11.2
3 chromosome 3pter-p25 deletion syndrome 11.1
4 wolf-hirschhorn syndrome 10.9
5 heart septal defect 10.2
6 atrial heart septal defect 10.2
7 thyroiditis 10.2
8 chromosomal triplication 10.1
9 chromosome 18p duplication 10.1
10 chromosome 4p duplication 10.1
11 hashimoto thyroiditis 10.1
12 pernicious anemia 10.1
13 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
14 growth hormone deficiency 10.1
15 cleft lip 10.0
16 ring chromosome 10.0
17 microcephaly 9.9
18 cleft lip/palate 9.9
19 anorectal anomalies 9.9
20 coarctation of aorta 9.9
21 papillomatosis, confluent and reticulated 9.9
22 chromosome 2q35 duplication syndrome 9.9
23 retinitis pigmentosa 11 9.9
24 chromosome 10p duplication 9.9
25 chromosome 10q duplication 9.9
26 chromosome 2q duplication 9.9
27 chromosome 4q duplication 9.9
28 chromosome 5q duplication 9.9
29 chromosome 6p duplication 9.9
30 chromosome 9p duplication 9.9
31 trisomy 1q 9.9
32 complex chromosomal rearrangement 9.9
33 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 9.9
34 progressive familial heart block, type ia 9.9
35 immunoglobulin a deficiency 1 9.9
36 wolff-parkinson-white syndrome 9.9
37 ebstein anomaly 9.9
38 immune deficiency disease 9.9
39 lesch-nyhan syndrome 9.9
40 progressive familial heart block, type ib 9.9
41 aural atresia, congenital 9.9
42 leukemia, acute lymphoblastic 9.9
43 cyanosis, transient neonatal 9.9
44 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
45 orofacial cleft 9.9
46 hypospadias 9.9
47 heart disease 9.9
48 common variable immunodeficiency 9.9
49 plica syndrome 9.9
50 leukemia 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:

40
Heart, Kidney

Publications for Proximal Chromosome 18q Deletion Syndrome

Articles related to Proximal Chromosome 18q Deletion Syndrome:

# Title Authors PMID Year
1
Another patient with chromosome 18 deletion syndrome and juvenile rheumatoid arthritis. 61
15124264 2004
2
Casein kinase II is associated with neurofibrillary tangles but is not an intrinsic component of paired helical filaments. 61
1576530 1992
3
Immunological profile in a chromosome 18 deletion syndrome with IgA deficiency. 61
5391901 1969

Variations for Proximal Chromosome 18q Deletion Syndrome

ClinVar genetic disease variations for Proximal Chromosome 18q Deletion Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 61 genes Deletion Pathogenic 626290 GRCh37: 18:58024137-77996821
GRCh38:

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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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