MCID: CHR393
MIFTS: 19

Chromosome 19p13.13 Deletion Syndrome

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

Aliases & Classifications for Chromosome 19p13.13 Deletion Syndrome

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

Name: Chromosome 19p13.13 Deletion Syndrome 53 12 28 14 69
Chromosome 19p13.13 Duplication Syndrome 53 13 69
19p13.3 Microduplication Syndrome 55
19p13.13 Microdeletion Syndrome 55
Monosomy 19p13.13 55
Del(19)(p13.13) 55
Dup(19)(p13.13) 55

Characteristics:

Orphanet epidemiological data:

55
19p13.13 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
19p13.3 microduplication syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

Classifications:



Summaries for Chromosome 19p13.13 Deletion Syndrome

MalaCards based summary : Chromosome 19p13.13 Deletion Syndrome, also known as chromosome 19p13.13 duplication syndrome, is related to 19p13.13 deletion syndrome, and has symptoms including constipation, seizures and abdominal pain. An important gene associated with Chromosome 19p13.13 Deletion Syndrome is DEL19P13.13 (Chromosome 19p13.13 Deletion Syndrome).

Description 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 11.3

Symptoms & Phenotypes for Chromosome 19p13.13 Deletion Syndrome

Clinical features from OMIM:

613638

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

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 constipation 31 HP:0002019
2 seizures 31 HP:0001250
3 abdominal pain 31 HP:0002027
4 vomiting 31 HP:0002013
5 diarrhea 31 HP:0002014
6 macrocephaly 31 HP:0000256
7 frontal bossing 31 HP:0002007
8 nystagmus 31 HP:0000639
9 self-injurious behavior 31 HP:0100716
10 global developmental delay 31 HP:0001263
11 delayed speech and language development 31 HP:0000750
12 microcephaly 31 HP:0000252
13 optic atrophy 31 HP:0000648
14 intellectual disability, severe 31 HP:0010864
15 feeding difficulties 31 HP:0011968
16 strabismus 31 HP:0000486
17 inverted nipples 31 HP:0003186
18 ventriculomegaly 31 HP:0002119
19 optic nerve hypoplasia 31 HP:0000609
20 downslanted palpebral fissures 31 HP:0000494
21 sloping forehead 31 HP:0000340
22 overgrowth 31 HP:0001548
23 arnold-chiari type i malformation 31 HP:0007099

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 28

Anatomical Context for Chromosome 19p13.13 Deletion Syndrome

Publications for Chromosome 19p13.13 Deletion Syndrome

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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