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MCID: CHR219
MIFTS: 14
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Chromosome 19q13.11 Deletion Syndrome
Categories:
Genetic diseases, Rare diseases
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MalaCards integrated aliases for Chromosome 19q13.11 Deletion Syndrome:
Classifications:External Ids:
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NIH Rare Diseases
:
53
Chromosome 19q13.11 deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on chromosome 19 at a location designated q13.11. People affected by this condition may have poor growth, severe feeding difficulties shortly after birth, developmental delay, learning disabilities, microcephaly (an unusually small head), hypospadias, and skin abnormalities. To date, all cases of chromosome 19q13.11 deletion syndrome appear to be sporadic and diagnosed in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.
MalaCards based summary : Chromosome 19q13.11 Deletion Syndrome, also known as 19q13.11 microdeletion syndrome, is related to chromosome 19q13.11 deletion syndrome, distal and chromosome 19q13.11 deletion syndrome, proximal. An important gene associated with Chromosome 19q13.11 Deletion Syndrome is UBA2 (Ubiquitin Like Modifier Activating Enzyme 2). Affiliated tissues include skin. |
Diseases related to Chromosome 19q13.11 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
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Cochrane evidence based reviews: chromosome 19q13.11 deletion syndrome |
Genetic tests related to Chromosome 19q13.11 Deletion Syndrome:
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MalaCards organs/tissues related to Chromosome 19q13.11 Deletion Syndrome:41
Skin
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Articles related to Chromosome 19q13.11 Deletion Syndrome:
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Genes related to Chromosome 19q13.11 Deletion Syndrome (0 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Chromosome 19q13.11 Deletion Syndrome.
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