MCID: CHR219
MIFTS: 26

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 20 29 6 44 15 71
19q13.11 Microdeletion Syndrome 12
Monosomy 19q13.11 12

Classifications:



Summaries for Chromosome 19q13.11 Deletion Syndrome

GARD : 20 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), and among its related pathways/superpathways is Herpes simplex virus 1 infection. Related phenotypes are intellectual disability and failure to thrive

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.

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 32.3 UBA2 DEL19Q13.11
2 chromosome 19q13.11 deletion syndrome, proximal 11.6
3 gm1-gangliosidosis, type iii 9.7 ZNF302 ZNF181
4 tethered spinal cord syndrome 9.6 ZNF599 ZNF181
5 prolidase deficiency 9.3 ZNF599 ZNF30 ZNF181
6 brugada syndrome 5 9.1 ZNF599 ZNF302 ZNF30 ZNF181

Graphical network of the top 20 diseases related to Chromosome 19q13.11 Deletion Syndrome:



Diseases related to Chromosome 19q13.11 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 19q13.11 Deletion Syndrome

Human phenotypes related to Chromosome 19q13.11 Deletion Syndrome:

31 (show all 38)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 hallmark (90%) HP:0001249
2 failure to thrive 31 hallmark (90%) HP:0001508
3 delayed speech and language development 31 hallmark (90%) HP:0000750
4 microcephaly 31 hallmark (90%) HP:0000252
5 intrauterine growth retardation 31 hallmark (90%) HP:0001511
6 cachexia 31 hallmark (90%) HP:0004326
7 clinodactyly of the 5th finger 31 hallmark (90%) HP:0004209
8 hypospadias 31 hallmark (90%) HP:0000047
9 feeding difficulties 31 hallmark (90%) HP:0011968
10 aplasia cutis congenita 31 hallmark (90%) HP:0001057
11 recurrent respiratory infections 31 frequent (33%) HP:0002205
12 cryptorchidism 31 frequent (33%) HP:0000028
13 dry skin 31 frequent (33%) HP:0000958
14 wide intermamillary distance 31 frequent (33%) HP:0006610
15 retrognathia 31 frequent (33%) HP:0000278
16 long face 31 frequent (33%) HP:0000276
17 fine hair 31 frequent (33%) HP:0002213
18 high forehead 31 frequent (33%) HP:0000348
19 finger syndactyly 31 frequent (33%) HP:0006101
20 thin vermilion border 31 frequent (33%) HP:0000233
21 toe syndactyly 31 frequent (33%) HP:0001770
22 toe clinodactyly 31 frequent (33%) HP:0001863
23 underdeveloped nasal alae 31 frequent (33%) HP:0000430
24 sparse lateral eyebrow 31 frequent (33%) HP:0005338
25 nail dysplasia 31 frequent (33%) HP:0002164
26 sparse hair 31 frequent (33%) HP:0008070
27 supernumerary nipple 31 frequent (33%) HP:0002558
28 broad columella 31 frequent (33%) HP:0010761
29 sparse or absent eyelashes 31 frequent (33%) HP:0200102
30 thin skin 31 frequent (33%) HP:0000963
31 hearing impairment 31 occasional (7.5%) HP:0000365
32 cataract 31 occasional (7.5%) HP:0000518
33 congenital hip dislocation 31 occasional (7.5%) HP:0001374
34 wide mouth 31 occasional (7.5%) HP:0000154
35 bifid scrotum 31 occasional (7.5%) HP:0000048
36 ventricular septal defect 31 occasional (7.5%) HP:0001629
37 microcornea 31 occasional (7.5%) HP:0000482
38 single median maxillary incisor 31 occasional (7.5%) HP:0006315

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

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
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
3
Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients. 61
24243649 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

ClinVar genetic disease variations for Chromosome 19q13.11 Deletion Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 UBA2 NM_005499.3(UBA2):c.800T>A (p.Leu267Ter) SNV Pathogenic 977797 19:34941198-34941198 19:34450293-34450293

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

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 by RNA polymerase II GO:0006357 9.26 ZNF599 ZNF302 ZNF30 ZNF181
2 regulation of transcription, DNA-templated GO:0006355 8.92 ZNF599 ZNF302 ZNF30 ZNF181

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.26 ZNF599 ZNF302 ZNF30 ZNF181
2 nucleic acid binding GO:0003676 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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