MCID: 19P003
MIFTS: 14

19p13.3 Microduplication Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for 19p13.3 Microduplication Syndrome

MalaCards integrated aliases for 19p13.3 Microduplication Syndrome:

Name: 19p13.3 Microduplication Syndrome 58
Dup(19)(p13.13) 58

Characteristics:

Orphanet epidemiological data:

58
19p13.3 microduplication syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for 19p13.3 Microduplication Syndrome

MalaCards based summary : 19p13.3 Microduplication Syndrome, is also known as dup(19)(p13.13). An important gene associated with 19p13.3 Microduplication Syndrome is NFIX (Nuclear Factor I X). Related phenotypes are global developmental delay and microcephaly

Related Diseases for 19p13.3 Microduplication Syndrome

Symptoms & Phenotypes for 19p13.3 Microduplication Syndrome

Human phenotypes related to 19p13.3 Microduplication Syndrome:

58 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
3 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
4 thick vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0012471
5 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
6 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
7 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
8 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
9 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
10 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
11 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
12 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
13 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
14 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
15 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
16 prominent nose 58 31 frequent (33%) Frequent (79-30%) HP:0000448
17 long fingers 58 31 frequent (33%) Frequent (79-30%) HP:0100807
18 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
19 microtia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008551
20 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
21 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
22 irritability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000737
23 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
24 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
25 osteoporosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000939
26 inverted nipples 58 31 occasional (7.5%) Occasional (29-5%) HP:0003186
27 kyphoscoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002751
28 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
29 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
30 amblyopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000646
31 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
32 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
33 self-injurious behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0100716
34 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
35 precocious puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000826
36 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
37 underdeveloped nasal alae 58 31 occasional (7.5%) Occasional (29-5%) HP:0000430
38 sloping forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000340
39 posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000358
40 cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002059
41 hyperactivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000752
42 hypermetropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000540
43 horizontal nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000666
44 clinodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0030084
45 unilateral cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0012741
46 episodic vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002572
47 hip subluxation 58 31 occasional (7.5%) Occasional (29-5%) HP:0030043
48 febrile seizure (within the age range of 3 months to 6 years) 31 occasional (7.5%) HP:0002373
49 delayed speech and language development 58 Very frequent (99-80%)
50 abnormal facial shape 58 Very frequent (99-80%)

Drugs & Therapeutics for 19p13.3 Microduplication Syndrome

Search Clinical Trials , NIH Clinical Center for 19p13.3 Microduplication Syndrome

Genetic Tests for 19p13.3 Microduplication Syndrome

Anatomical Context for 19p13.3 Microduplication Syndrome

Publications for 19p13.3 Microduplication Syndrome

Variations for 19p13.3 Microduplication Syndrome

Expression for 19p13.3 Microduplication Syndrome

Search GEO for disease gene expression data for 19p13.3 Microduplication Syndrome.

Pathways for 19p13.3 Microduplication Syndrome

GO Terms for 19p13.3 Microduplication Syndrome

Sources for 19p13.3 Microduplication Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....