MCID: 16Q001
MIFTS: 25
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16q24.3 Microdeletion Syndrome
Categories:
Fetal diseases, Rare diseases
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MalaCards integrated aliases for 16q24.3 Microdeletion Syndrome:
Characteristics:Orphanet epidemiological data:59
16q24.3 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Classifications:
ICD10:
34
External Ids:
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NIH Rare Diseases
:
53
16q24.3 microdeletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated q24.3. Signs and symptoms may include developmental delay, characteristic facial features, seizures and autism spectrum disorder. Chromosome testing of both parents can provide more information on whether or not the microdeletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent has 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 microdeletion. Treatment is based on the signs and symptoms present in each person. To learn more about chromosomal anomalies in general, please visit our GARD webpage on Chromosome Disorders.
MalaCards based summary : 16q24.3 Microdeletion Syndrome, also known as monosomy 16q24.3, is related to kbg syndrome and autism spectrum disorder. An important gene associated with 16q24.3 Microdeletion Syndrome is ANKRD11 (Ankyrin Repeat Domain 11). Affiliated tissues include testes and skin, and related phenotypes are protruding ear and autism |
Diseases related to 16q24.3 Microdeletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to 16q24.3 Microdeletion Syndrome:![]() |
Human phenotypes related to 16q24.3 Microdeletion Syndrome:59 32 (show all 48)
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MalaCards organs/tissues related to 16q24.3 Microdeletion Syndrome:41
Testes,
Skin
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Articles related to 16q24.3 Microdeletion Syndrome:
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ClinVar genetic disease variations for 16q24.3 Microdeletion Syndrome:6 (show all 12)
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Search
GEO
for disease gene expression data for 16q24.3 Microdeletion Syndrome.
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