MCID: CHR393
MIFTS: 25

Chromosome 19p13.13 Deletion Syndrome

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Chromosome 19p13.13 Deletion Syndrome

MalaCards integrated aliases for Chromosome 19p13.13 Deletion Syndrome:

Name: Chromosome 19p13.13 Deletion Syndrome 57 12 29 13 15 70
Chromosome 19p13.13 Duplication Syndrome 57 70
19p13.13 Microdeletion Syndrome 58
Monosomy 19p13.13 58
Del(19)(p13.13) 58

Characteristics:

Orphanet epidemiological data:

58
19p13.13 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Chromosome 19p13.13 Deletion Syndrome

Disease Ontology : 12 A chromosomal deletion syndrome that has material basis in a chromosome 19p13.13 deletion and that is characterized by an unusually large head size, tall stature, and intellectual disability that is usually moderate in severity.

MalaCards based summary : Chromosome 19p13.13 Deletion Syndrome, also known as chromosome 19p13.13 duplication syndrome, is related to 19p13.13 deletion syndrome and strabismus. An important gene associated with Chromosome 19p13.13 Deletion Syndrome is DEL19P13.13 (Chromosome 19p13.13 Deletion Syndrome). Affiliated tissues include eye, and related phenotypes are macrocephaly and nystagmus

More information from OMIM: 613638

Related Diseases for Chromosome 19p13.13 Deletion Syndrome

Diseases related to Chromosome 19p13.13 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 19p13.13 deletion syndrome 11.5
2 strabismus 10.1
3 ataxia and polyneuropathy, adult-onset 10.1
4 alacrima, achalasia, and mental retardation syndrome 10.1
5 mechanical strabismus 10.1
6 hypotonia 10.1
7 overgrowth syndrome 10.1

Graphical network of the top 20 diseases related to Chromosome 19p13.13 Deletion Syndrome:



Diseases related to Chromosome 19p13.13 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 19p13.13 Deletion Syndrome

Human phenotypes related to Chromosome 19p13.13 Deletion Syndrome:

58 31 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 Very frequent (99-80%) HP:0000256
2 nystagmus 58 31 Occasional (29-5%) HP:0000639
3 global developmental delay 58 31 Frequent (79-30%) HP:0001263
4 optic atrophy 58 31 Occasional (29-5%) HP:0000648
5 vomiting 58 31 Occasional (29-5%) HP:0002013
6 strabismus 58 31 Frequent (79-30%) HP:0000486
7 abdominal pain 58 31 Occasional (29-5%) HP:0002027
8 downslanted palpebral fissures 58 31 Frequent (79-30%) HP:0000494
9 feeding difficulties 58 31 Occasional (29-5%) HP:0011968
10 diarrhea 58 31 Occasional (29-5%) HP:0002014
11 optic nerve hypoplasia 58 31 Occasional (29-5%) HP:0000609
12 arnold-chiari type i malformation 58 31 Occasional (29-5%) HP:0007099
13 intellectual disability 58 Frequent (79-30%)
14 seizures 58 Occasional (29-5%)
15 frontal bossing 31 HP:0002007
16 constipation 31 HP:0002019
17 high palate 58 Occasional (29-5%)
18 self-injurious behavior 31 HP:0100716
19 macroglossia 58 Occasional (29-5%)
20 depressed nasal bridge 58 Occasional (29-5%)
21 hypertelorism 58 Occasional (29-5%)
22 macrotia 58 Occasional (29-5%)
23 delayed speech and language development 31 HP:0000750
24 pes planus 58 Occasional (29-5%)
25 abnormal facial shape 58 Very frequent (99-80%)
26 short nose 58 Occasional (29-5%)
27 microcephaly 31 HP:0000252
28 smooth philtrum 58 Occasional (29-5%)
29 anteverted nares 58 Frequent (79-30%)
30 brachycephaly 58 Occasional (29-5%)
31 intellectual disability, severe 31 HP:0010864
32 prominent forehead 58 Very frequent (99-80%)
33 attention deficit hyperactivity disorder 58 Frequent (79-30%)
34 low-set ears 58 Occasional (29-5%)
35 epicanthus 58 Occasional (29-5%)
36 pectus excavatum 58 Frequent (79-30%)
37 inverted nipples 31 HP:0003186
38 dolichocephaly 58 Occasional (29-5%)
39 narrow mouth 58 Occasional (29-5%)
40 sandal gap 58 Occasional (29-5%)
41 thin upper lip vermilion 58 Occasional (29-5%)
42 long face 58 Frequent (79-30%)
43 deeply set eye 58 Occasional (29-5%)
44 ventriculomegaly 31 HP:0002119
45 malar flattening 58 Occasional (29-5%)
46 increased nuchal translucency 58 Occasional (29-5%)
47 long eyelashes 58 Occasional (29-5%)
48 sloping forehead 31 HP:0000340
49 deep plantar creases 58 Occasional (29-5%)
50 cafe-au-lait spot 58 Occasional (29-5%)

Clinical features from OMIM®:

613638 (Updated 20-May-2021)

Drugs & Therapeutics for Chromosome 19p13.13 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 19p13.13 Deletion Syndrome

Genetic Tests for Chromosome 19p13.13 Deletion Syndrome

Genetic tests related to Chromosome 19p13.13 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 19p13.13 Deletion Syndrome 29

Anatomical Context for Chromosome 19p13.13 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 19p13.13 Deletion Syndrome:

40
Eye

Publications for Chromosome 19p13.13 Deletion Syndrome

Articles related to Chromosome 19p13.13 Deletion Syndrome:

# Title Authors PMID Year
1
A novel microdeletion/microduplication syndrome of 19p13.13. 57
20613546 2010
2
A new case of syndromic craniosynostosis with cryptic 19p13.2-p13.13 deletion. 57
19842200 2009
3
Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms. 57
19874387 2009
4
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies. 57
19215039 2009
5
DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation. 57
17339581 2007
6
Interstitial duplication 19p. 57
7573129 1995
7
MAST1 modulates neuronal differentiation and cell cycle exit via P27 in neuroblastoma cells. 61
32291963 2020
8
Intellectual disability and overgrowth-A new case of 19p13.13 microdeletion syndrome with digital abnormalities. 61
26338046 2015

Variations for Chromosome 19p13.13 Deletion Syndrome

Expression for Chromosome 19p13.13 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 19p13.13 Deletion Syndrome.

Pathways for Chromosome 19p13.13 Deletion Syndrome

GO Terms for Chromosome 19p13.13 Deletion Syndrome

Sources for Chromosome 19p13.13 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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