MCID: CHR393
MIFTS: 20

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 57 12 29 15 73
Chromosome 19p13.13 Duplication Syndrome 57 13 73
19p13.3 Microduplication Syndrome 59
19p13.13 Microdeletion Syndrome 59
Monosomy 19p13.13 59
Del(19)(p13.13) 59
Dup(19)(p13.13) 59

Characteristics:

Orphanet epidemiological data:

59
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. An important gene associated with Chromosome 19p13.13 Deletion Syndrome is DEL19P13.13 (Chromosome 19p13.13 Deletion Syndrome). Related phenotypes are microcephaly and macrocephaly

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:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 macrocephaly 32 HP:0000256
3 sloping forehead 32 HP:0000340
4 strabismus 32 HP:0000486
5 downslanted palpebral fissures 32 HP:0000494
6 optic nerve hypoplasia 32 HP:0000609
7 nystagmus 32 HP:0000639
8 optic atrophy 32 HP:0000648
9 delayed speech and language development 32 HP:0000750
10 seizures 32 HP:0001250
11 global developmental delay 32 HP:0001263
12 overgrowth 32 HP:0001548
13 frontal bossing 32 HP:0002007
14 vomiting 32 HP:0002013
15 diarrhea 32 HP:0002014
16 constipation 32 HP:0002019
17 abdominal pain 32 HP:0002027
18 ventriculomegaly 32 HP:0002119
19 inverted nipples 32 HP:0003186
20 arnold-chiari type i malformation 32 HP:0007099
21 intellectual disability, severe 32 HP:0010864
22 feeding difficulties 32 HP:0011968
23 self-injurious behavior 32 HP:0100716

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

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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