Chromosome 19q13.11 Deletion Syndrome

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Disease Ontology 12 DOID:0060408 MeSH 43 C567810

UMLS 71 C2751651

NIH Rare Diseases : ⁵² 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 LINC00904 (Long Intergenic Non-Protein Coding RNA 904), and among its related pathways/superpathways is Herpes simplex virus 1 infection. Affiliated tissues include skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Disease Ontology : ¹² A chromosomal deletion syndrome that has material basis in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties.

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-109	9.55	ZNF599
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-126	9.55	ZNF599
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-141	9.55	ZNF599
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-151	9.55	ZNF181
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-153	9.55	ZNF181
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-165	9.55	ZNF599
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-198	9.55	ZNF599
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-202	9.55	ZNF599
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-211	9.55	ZNF599
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-23	9.55	ZNF181
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-24	9.55	ZNF599
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-25	9.55	ZNF599
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-30	9.55	ZNF599
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-36	9.55	ZNF599
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-43	9.55	ZNF599
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-57	9.55	ZNF599
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-67	9.55	ZNF599

Search Clinical Trials , NIH Clinical Center for Chromosome 19q13.11 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 19q13.11 Deletion Syndrome.