Chromosome 13q14 Deletion Syndrome

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OMIM 57 613884 Disease Ontology 12 DOID:0060391 ICD10 33 Q93.5 Orphanet 59 ORPHA1587

ICD10 via Orphanet 34 Q93.5 MedGen 42 C3151302 SNOMED-CT via HPO 69 263681008 28740008 271611007 72239002 194021007 22006008 32958008 95515009 275478007 249321001 11731003 95427009 11934000 128306009 193570009 247053007 204108000 61142002 44593008 162294008 229721007 29164008 62415009 43476002 228156007 247578003 91138005 398151007 398152000 30915001 199612005 22033007 90145001 204043002 237836003 249769001 268251006 34048007 83145004 127002001 19906005 370967009 119292006 25374005 53619000 more UMLS 73 C3151302 C0265451 C2930913

NIH Rare Diseases : ⁵³ 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. Affiliated tissues include testes, heart and eye, and related phenotypes are hypertelorism and low-set ears

OMIM : ⁵⁷ 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 : ⁷⁶ 13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm... more...

Clinical features from OMIM:

613884

Search Clinical Trials , NIH Clinical Center for Chromosome 13q14 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 13q14 Deletion Syndrome.