MCID: CHR393
MIFTS: 22

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 58 12 30 15 74
Chromosome 19p13.13 Duplication Syndrome 58 13 74
19p13.3 Microduplication Syndrome 60
19p13.13 Microdeletion Syndrome 60
Monosomy 19p13.13 60
Del(19)(p13.13) 60
Dup(19)(p13.13) 60

Characteristics:

Orphanet epidemiological data:

60
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 alacrima, achalasia, and mental retardation syndrome. An important gene associated with Chromosome 19p13.13 Deletion Syndrome is DEL19P13.13 (Chromosome 19p13.13 Deletion Syndrome). Related phenotypes are macrocephaly and frontal bossing

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 11.5
2 alacrima, achalasia, and mental retardation syndrome 10.2

Symptoms & Phenotypes for Chromosome 19p13.13 Deletion Syndrome

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

33 (show all 23)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 HP:0000256
2 frontal bossing 33 HP:0002007
3 nystagmus 33 HP:0000639
4 seizures 33 HP:0001250
5 constipation 33 HP:0002019
6 self-injurious behavior 33 HP:0100716
7 global developmental delay 33 HP:0001263
8 delayed speech and language development 33 HP:0000750
9 microcephaly 33 HP:0000252
10 optic atrophy 33 HP:0000648
11 vomiting 33 HP:0002013
12 intellectual disability, severe 33 HP:0010864
13 abdominal pain 33 HP:0002027
14 feeding difficulties 33 HP:0011968
15 strabismus 33 HP:0000486
16 inverted nipples 33 HP:0003186
17 ventriculomegaly 33 HP:0002119
18 optic nerve hypoplasia 33 HP:0000609
19 downslanted palpebral fissures 33 HP:0000494
20 diarrhea 33 HP:0002014
21 sloping forehead 33 HP:0000340
22 overgrowth 33 HP:0001548
23 arnold-chiari type i malformation 33 HP:0007099

Clinical features from OMIM:

613638

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 30

Anatomical Context for Chromosome 19p13.13 Deletion Syndrome

Publications for Chromosome 19p13.13 Deletion Syndrome

Articles related to Chromosome 19p13.13 Deletion Syndrome:

# Title Authors Year
1
Intellectual disability and overgrowth-A new case of 19p13.13 microdeletion syndrome with digital abnormalities. ( 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
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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