MCID: CHR219
MIFTS: 14

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 54 30 13 45 15 74
19q13.11 Microdeletion Syndrome 12
Monosomy 19q13.11 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060408
MeSH 45 C567810
UMLS 74 C2751651

Summaries for Chromosome 19q13.11 Deletion Syndrome

NIH Rare Diseases : 54 Chromosome 19q13.11 deletionsyndrome 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.

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 12.6
2 chromosome 19q13.11 deletion syndrome, proximal 12.6

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 30

Anatomical Context for Chromosome 19q13.11 Deletion Syndrome

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

42
Skin

Publications for Chromosome 19q13.11 Deletion Syndrome

Articles related to Chromosome 19q13.11 Deletion Syndrome:

# Title Authors Year
1
Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb. ( 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

GO Terms for Chromosome 19q13.11 Deletion Syndrome

Sources for Chromosome 19q13.11 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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