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MCID: CHR211
MIFTS: 43
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Chromosome 18p Deletion Syndrome
Categories:
Rare diseases, Eye diseases, Fetal diseases, Genetic diseases
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MalaCards integrated aliases for Chromosome 18p Deletion Syndrome:
Characteristics:Orphanet epidemiological data:59
monosomy 18p
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; HPO:32Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Anatomical: Eye diseases
ICD10:
34
External Ids:
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NIH Rare Diseases
:
53
Chromosome 18p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) 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 chromosome 18p deletion 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 18p 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 : Chromosome 18p Deletion Syndrome, also known as de grouchy syndrome, is related to 18p deletion syndrome and holoprosencephaly. An important gene associated with Chromosome 18p Deletion Syndrome is DEL18P (Chromosome 18p Deletion Syndrome), and among its related pathways/superpathways are Differentiation Pathway and Tgif disruption of Shh signaling. Affiliated tissues include testes, skin and heart, and related phenotypes are short neck and pectus excavatum Wikipedia : 76 Distal 18q- is a genetic condition caused by a deletion of genetic material within one of the two copies... more...
Description from OMIM:
146390
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:146390Human phenotypes related to Chromosome 18p Deletion Syndrome:59 32 (show top 50) (show all 52)
GenomeRNAi Phenotypes related to Chromosome 18p Deletion Syndrome according to GeneCards Suite gene sharing:26 (show all 31)
MGI Mouse Phenotypes related to Chromosome 18p Deletion Syndrome:46
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Cochrane evidence based reviews: chromosome 18p deletion syndrome |
MalaCards organs/tissues related to Chromosome 18p Deletion Syndrome:41
Testes,
Skin,
Heart,
Eye
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Articles related to Chromosome 18p Deletion Syndrome:
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- Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Chromosome 18p Deletion Syndrome.
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Biological processes related to Chromosome 18p Deletion Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Chromosome 18p Deletion Syndrome according to GeneCards Suite gene sharing:
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