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 54 12 29 69
19p13.3 Microduplication Syndrome 56
19p13.13 Microdeletion Syndrome 56
Monosomy 19p13.13 56
Del(19)(p13.13) 56
Dup(19)(p13.13) 56

Characteristics:

Orphanet epidemiological data:

56
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 19p13.3 microduplication syndrome, is related to 19p13.13 deletion syndrome, and has symptoms including optic atrophy, nystagmus and diarrhea. 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:

id Related Disease Score Top Affiliating Genes
1 19p13.13 deletion syndrome 11.1

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

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....