MCID: CHR219
MIFTS: 17

Chromosome 19q13.11 Deletion Syndrome

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 19q13.11 Deletion Syndrome

MalaCards integrated aliases for Chromosome 19q13.11 Deletion Syndrome:

Name: Chromosome 19q13.11 Deletion Syndrome 12 52 29 43 15 71
19q13.11 Microdeletion Syndrome 12
Monosomy 19q13.11 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060408
MeSH 43 C567810
UMLS 71 C2751651

Summaries for Chromosome 19q13.11 Deletion Syndrome

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.

Related Diseases for Chromosome 19q13.11 Deletion Syndrome

Diseases related to Chromosome 19q13.11 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 19q13.11 deletion syndrome, distal 12.7
2 chromosome 19q13.11 deletion syndrome, proximal 12.7
3 arthrogryposis multiplex congenita, neurogenic type 9.4 ZNF30 ZNF181
4 brugada syndrome 5 8.9 ZNF599 ZNF302 ZNF30 ZNF181

Symptoms & Phenotypes for Chromosome 19q13.11 Deletion Syndrome

Drugs & Therapeutics for Chromosome 19q13.11 Deletion Syndrome

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

Cochrane evidence based reviews: chromosome 19q13.11 deletion syndrome

Genetic Tests for Chromosome 19q13.11 Deletion Syndrome

Genetic tests related to Chromosome 19q13.11 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 19q13.11 Deletion Syndrome 29

Anatomical Context for Chromosome 19q13.11 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 19q13.11 Deletion Syndrome:

40
Skin

Publications for Chromosome 19q13.11 Deletion Syndrome

Articles related to Chromosome 19q13.11 Deletion Syndrome:

# Title Authors PMID Year
1
Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome. 61
26377242 2015
2
Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients. 61
24243649 2014
3
19q13.11 microdeletion concomitant with ins(2;19)(p25.3;q13.1q13.4)dn in a boy: potential role of UBA2 in the associated phenotype. 61
25516771 2014
4
Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb. 61
19487540 2009

Variations for Chromosome 19q13.11 Deletion Syndrome

Expression for Chromosome 19q13.11 Deletion Syndrome

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

Pathways for Chromosome 19q13.11 Deletion Syndrome

Pathways related to Chromosome 19q13.11 Deletion Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.62 ZNF599 ZNF302 ZNF30 ZNF181

GO Terms for Chromosome 19q13.11 Deletion Syndrome

Cellular components related to Chromosome 19q13.11 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular GO:0005622 8.92 ZNF599 ZNF302 ZNF30 ZNF181

Biological processes related to Chromosome 19q13.11 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 8.92 ZNF599 ZNF302 ZNF30 ZNF181

Sources for Chromosome 19q13.11 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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