MCID: DST011
MIFTS: 21

Distal Chromosome 18q Deletion Syndrome

Categories: Endocrine diseases, Neuronal diseases, 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 53
Deletion of Long Arm of Chromosome 18 29 6 72
Distal 18q Deletion Syndrome 53 25
Chromosome 18 Long Arm Deletion Syndrome 25
Chromosome 18q Deletion Syndrome 25
Chromosome 18, Monosomy 18q 72
Chromosome 18q- Syndrome 25
Chromosome 18q Monosomy 25
Monosomy 18q Syndrome 53
18q Deletion Syndrome 25
De Grouchy Syndrome 25
Distal 18q Deletion 53
18q- Syndrome 25
Del Syndrome 25
Monosomy 18q 25
Distal 18q- 53

Classifications:



External Ids:

UMLS 72 C0432443 C2931249

Summaries for Distal Chromosome 18q Deletion Syndrome

Genetics Home Reference : 25 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. Some common features of distal 18q deletion syndrome include short stature (often due to growth hormone deficiency), weak muscle tone (hypotonia), hearing loss due to ear canals that are narrow (aural stenosis) or absent (aural atresia), and foot abnormalities such as an inward or upward-turning foot (clubfoot) or feet with soles that are rounded outward (rocker-bottom feet). Eye movement disorders and other vision problems, an opening in the roof of the mouth (cleft palate), an underactive thyroid gland (hypothyroidism), heart abnormalities that are present from birth (congenital heart defects), kidney problems, genital abnormalities, and skin problems may also occur in this disorder. Some affected individuals have mild facial differences such as deep-set eyes, a flat or sunken appearance of the middle of the face (midface hypoplasia), a wide mouth, and prominent ears. These features are often not noticeable except in a detailed medical evaluation. Distal 18q deletion syndrome can also affect the nervous system. A common neurological feature of this disorder is impaired myelin production (dysmyelination). Myelin is a fatty substance that insulates nerve cells and promotes the rapid transmission of nerve impulses. The formation of a protective myelin sheath around nerve cells (myelination) normally begins before birth and continues into adulthood. In people with distal 18q deletion syndrome, myelination is often delayed and proceeds more slowly than normal; affected individuals may never have normal adult myelin levels. Most people with distal 18q deletion syndrome have neurological problems, although it is unclear to what extent these problems are related to the dysmyelination. These problems include delayed development, learning disabilities, and intellectual disability that can range from mild to severe. Seizures; hyperactivity; mood disorders such as anxiety, irritability, and depression; and features of autism spectrum disorder that affect communication and social interaction may also occur. Some affected individuals have an unusually small head size (microcephaly).

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

NIH Rare Diseases : 53 Distal chromosome 18q deletion syndrome is 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.

Wikipedia : 75 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

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

(show top 50) (show all 127)
# Related Disease Score Top Affiliating Genes
1 proximal chromosome 18q deletion syndrome 12.7
2 chromosome 18q deletion syndrome 12.7
3 18p deletion syndrome 11.3
4 wolf-hirschhorn syndrome 11.0
5 chromosome 3p deletion 11.0
6 chromosome 3p- syndrome 11.0
7 chromosome 18p duplication 10.2
8 chromosome 4p duplication 10.2
9 epicanthus 10.1
10 aural atresia, congenital 10.1
11 microphthalmia 10.1
12 myopia 10.1
13 48,xyyy 10.1
14 chromosomal triplication 10.1
15 hashimoto thyroiditis 10.1
16 pernicious anemia 10.1
17 deficiency anemia 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 endogenous depression 10.0
38 mood disorder 10.0
39 immune deficiency disease 10.0
40 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
41 alacrima, achalasia, and mental retardation syndrome 10.0
42 heart septal defect 10.0
43 atrial heart septal defect 10.0
44 thyroiditis 10.0
45 diabetes mellitus 10.0
46 cleft lip 9.9
47 microcephaly 9.9
48 47,xyy 9.9
49 ring chromosome 9.9
50 autoimmune disease 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:


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 29

Anatomical Context for Distal Chromosome 18q Deletion Syndrome

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

41
Heart, Skin, Testes, Kidney, Eye, Thyroid

Publications for Distal Chromosome 18q Deletion Syndrome

Articles related to Distal Chromosome 18q Deletion Syndrome:

# Title Authors PMID Year
1
[Genotype and phenotype analysis of a child with partial 18q deletion syndrome]. 38
28777861 2017

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
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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