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MCID: CHR492
MIFTS: 46
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Chromosome 13q14 Deletion Syndrome
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Chromosome 13q14 Deletion Syndrome:
Characteristics:OMIM:58
Inheritance:
autosomal dominant isolated cases
Miscellaneous:
contiguous gene deletion syndrome most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported HPO:33Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Anatomical: Eye diseases
ICD10:
34
35
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NIH Rare Diseases
:
54
Chromosome 13q deletionis a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 13. 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 13q 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 13q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 13. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.
MalaCards based summary : Chromosome 13q14 Deletion Syndrome, also known as chromosome 13q deletion, is related to anal atresia, hypospadias, and penoscrotal inversion and autism 3. An important gene associated with Chromosome 13q14 Deletion Syndrome is DEL13Q14 (Chromosome 13q14 Deletion Syndrome), and among its related pathways/superpathways is Hematopoietic cell lineage. The drugs ofatumumab and rituximab have been mentioned in the context of this disorder. Affiliated tissues include testes, heart and eye, and related phenotypes are hypertelorism and intellectual disability Disease Ontology : 12 A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has material basis in deletion of the long arm of chromosome 13. OMIM : 58 The chromosome 13q14 deletion syndrome is characterized by retinoblastoma (180200), variable degrees of mental impairment, and characteristic facial features, including high forehead, prominent philtrum, and anteverted earlobes (summary by Caselli et al., 2007). (613884) Wikipedia : 77 13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm... more... |
Human phenotypes related to Chromosome 13q14 Deletion Syndrome:60 33 (show all 42)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:613884 |
Drugs for Chromosome 13q14 Deletion Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 24)
Interventional clinical trials:
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Genetic tests related to Chromosome 13q14 Deletion Syndrome:
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MalaCards organs/tissues related to Chromosome 13q14 Deletion Syndrome:42
Testes,
Heart,
Eye,
B Cells,
Pituitary
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Articles related to Chromosome 13q14 Deletion Syndrome:(show all 11)
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Genes related to Chromosome 13q14 Deletion Syndrome (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Chromosome 13q14 Deletion Syndrome:6
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Search
GEO
for disease gene expression data for Chromosome 13q14 Deletion Syndrome.
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Biological processes related to Chromosome 13q14 Deletion Syndrome according to GeneCards Suite gene sharing:
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